Hugo_Symbol Entrez_Gene_Id 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 chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AKR1B10 0 genome.wustl.edu 37 7 134221826 134221826 + Silent SNP A A G TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 7 134221826 134221826 A G SNP AKR1B10 ENST00000359579 human ensembl 69_37n +1 known silent c.576 p.T192 0.043 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 28 0 0.00 35 7 16.67 - - - AMHR2 0 genome.wustl.edu 37 12 53825208 53825208 + Missense_Mutation SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 12 53825208 53825208 G A SNP AMHR2 ENST00000257863 human ensembl 69_37n +1 known missense c.1673 p.G558D 0.007 pirsf_Anti-muellerian_hrmn_rcpt_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom - no_errors AMHR2 HGNC ENSG00000135409 28 0 0.00 30 18 37.50 - - - ATAD3B 0 genome.wustl.edu 37 1 1431165 1431165 + Missense_Mutation SNP C C T TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 1 1431165 1431165 C T SNP ATAD3B ENST00000308647 human ensembl 69_37n +1 known missense c.1915 p.P639S 0.003 NULL pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 10 0 0.00 28 8 22.22 - - - ATXN2L 0 genome.wustl.edu 37 16 28844531 28844531 + Missense_Mutation SNP C C T TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 16 28844531 28844531 C T SNP ATXN2L ENST00000395547 human ensembl 69_37n +1 known missense c.1811 p.S604L 0.011 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 20 0 0.00 31 12 27.91 - - - BCO2 0 genome.wustl.edu 37 11 112064318 112064318 + Nonsense_Mutation SNP C C T TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 11 112064318 112064318 C T SNP BCO2 ENST00000357685 human ensembl 69_37n +1 known nonsense c.415 p.R139* 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 50 0 0.00 35 29 44.62 - - - C20orf195 0 genome.wustl.edu 37 20 62187465 62187465 + Missense_Mutation SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 20 62187465 62187465 G A SNP C20orf195 ENST00000370097 human ensembl 69_37n +1 known missense c.449 p.R150Q 0.122 NULL superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 14 0 0.00 7 8 53.33 - - - CCDC141 0 genome.wustl.edu 37 2 179742731 179742731 + Missense_Mutation SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 2 179742731 179742731 G A SNP CCDC141 ENST00000420890 human ensembl 69_37n -1 known missense c.1859 p.T620I 0.567 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 51 0 0.00 24 15 38.46 - - - CDK13 0 genome.wustl.edu 37 7 40027851 40027851 + Missense_Mutation SNP C C T TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 7 40027851 40027851 C T SNP CDK13 ENST00000181839 human ensembl 69_37n +1 known missense c.1865 p.A622V 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK13 HGNC ENSG00000065883 10 0 0.00 11 11 50.00 - - - CLEC18B 0 genome.wustl.edu 37 16 74446108 74446108 + Missense_Mutation SNP C C T TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 16 74446108 74446108 C T SNP CLEC18B ENST00000339953 human ensembl 69_37n -1 known missense c.821 p.R274Q 0.994 smart_EGF-like pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 25 0 0.00 22 5 18.52 - - - COMMD7 0 genome.wustl.edu 37 20 31315779 31315779 + Silent SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 20 31315779 31315779 G A SNP COMMD7 ENST00000278980 human ensembl 69_37n -1 known silent c.162 p.L54 0.975 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC ENSG00000149600 64 0 0.00 38 15 28.30 - - - CRNKL1 0 genome.wustl.edu 37 20 20036596 20036596 + Missense_Mutation SNP T T A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 20 20036596 20036596 T A SNP CRNKL1 ENST00000377340 human ensembl 69_37n -1 known missense c.63 p.K21N 0.006 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 56 0 0.00 24 20 45.45 - - - DUSP16 0 genome.wustl.edu 37 12 12630318 12630318 + Nonsense_Mutation SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 12 12630318 12630318 G A SNP DUSP16 ENST00000228862 human ensembl 69_37n -1 known nonsense c.1447 p.R483* 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 35 0 0.00 27 4 12.90 - - - HMMR 0 genome.wustl.edu 37 5 162891728 162891728 + Splice_Site SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 5 162891728 162891728 G A SNP HMMR ENST00000393915 human ensembl 69_37n +1 known splice_site c.146-1 e3-1 0.992 - - - no_errors HMMR HGNC ENSG00000072571 73 0 0.00 28 18 39.13 - - - LOXHD1 0 genome.wustl.edu 37 18 44057735 44057735 + Silent SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 18 44057735 44057735 G A SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known silent c.6336 p.V2112 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 28 0 0.00 19 12 38.71 - - - MRPS30 0 genome.wustl.edu 37 5 44813385 44813385 + Splice_Site SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 5 44813385 44813385 G A SNP MRPS30 ENST00000507110 human ensembl 69_37n +1 known splice_site c.1030+1 e4+1 1.000 - - - no_errors MRPS30 HGNC ENSG00000112996 23 0 0.00 11 16 59.26 - - - MST1P9 0 genome.wustl.edu 37 1 17083776 17083776 + Missense_Mutation SNP C C A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 1 17083776 17083776 C A SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known missense c.2021 p.R674L 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 17 0 0.00 11 6 35.29 - - - MUC16 0 genome.wustl.edu 37 19 9066614 9066614 + Missense_Mutation SNP C C A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 19 9066614 9066614 C A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.20832 p.E6944D 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 59 0 0.00 46 23 33.33 - - - MYO7B 0 genome.wustl.edu 37 2 128389268 128389268 + Missense_Mutation SNP C C T TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 2 128389268 128389268 C T SNP MYO7B ENST00000389524 human ensembl 69_37n +1 known missense c.5114 p.P1705L 0.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 16 0 0.00 17 5 22.73 - - - OR4D6 0 genome.wustl.edu 37 11 59225033 59225033 + Silent SNP C C A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 11 59225033 59225033 C A SNP OR4D6 ENST00000300127 human ensembl 69_37n +1 known silent c.600 p.I200 0.998 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D6 HGNC ENSG00000166884 70 0 0.00 41 29 41.43 - - - PCDH10 0 genome.wustl.edu 37 4 134073305 134073305 + Silent SNP C C T TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 4 134073305 134073305 C T SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known silent c.2010 p.S670 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 8 0 0.00 11 7 38.89 - - - PDE1C 0 genome.wustl.edu 37 7 31912927 31912927 + Missense_Mutation SNP T T G TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 7 31912927 31912927 T G SNP PDE1C ENST00000321453 human ensembl 69_37n -1 known missense c.587 p.Y196S 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 30 0 0.00 25 19 43.18 - - - PER3 0 genome.wustl.edu 37 1 7890055 7890055 + Silent SNP T T A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 1 7890055 7890055 T A SNP PER3 ENST00000361923 human ensembl 69_37n +1 known silent c.3021 p.A1007 0.063 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 13 0 0.00 25 8 23.53 - - - PEX7 0 genome.wustl.edu 37 6 137147511 137147511 + Missense_Mutation SNP T T G TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 6 137147511 137147511 T G SNP PEX7 ENST00000318471 human ensembl 69_37n +1 known missense c.243 p.H81Q 0.995 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PEX7 HGNC ENSG00000112357 51 0 0.00 41 12 22.64 - - - POMT2 0 genome.wustl.edu 37 14 77767530 77767530 + Missense_Mutation SNP A A G TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 14 77767530 77767530 A G SNP POMT2 ENST00000261534 human ensembl 69_37n -1 known missense c.719 p.L240S 0.787 pfam_Glyco_trans_39 pfam_Glyco_trans_39,pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC ENSG00000009830 33 0 0.00 17 12 41.38 - - - SCN3A 0 genome.wustl.edu 37 2 166012326 166012326 + Missense_Mutation SNP G G C TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 2 166012326 166012326 G C SNP SCN3A ENST00000283254 human ensembl 69_37n -1 known missense c.1119 p.F373L 0.987 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN3A HGNC ENSG00000153253 45 0 0.00 65 10 13.33 - - - SI 0 genome.wustl.edu 37 3 164755728 164755728 + Missense_Mutation SNP T T C TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 3 164755728 164755728 T C SNP SI ENST00000264382 human ensembl 69_37n -1 known missense c.2386 p.I796V 1.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 71 0 0.00 28 33 54.10 - - - SP4 0 genome.wustl.edu 37 7 21516732 21516732 + Missense_Mutation SNP C C A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 7 21516732 21516732 C A SNP SP4 ENST00000222584 human ensembl 69_37n +1 known missense c.1714 p.Q572K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 27 0 0.00 13 17 56.67 - - - TAF1 0 genome.wustl.edu 37 X 70627446 70627446 + Missense_Mutation SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c X 70627446 70627446 G A SNP TAF1 ENST00000449580 human ensembl 69_37n +1 known missense c.4127 p.R1376Q 1.000 pirsf_TAF1_animal,superfamily_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 42 0 0.00 35 13 27.08 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 8 0 0.00 25 5 16.67 - - - TLK2 0 genome.wustl.edu 37 17 60678053 60678053 + Missense_Mutation SNP A A G TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 17 60678053 60678053 A G SNP TLK2 ENST00000326270 human ensembl 69_37n +1 known missense c.1658 p.D553G 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK2 HGNC ENSG00000146872 63 0 0.00 38 25 39.68 - - - TOR3A 0 genome.wustl.edu 37 1 179063271 179063271 + Missense_Mutation SNP C C T TCGA-D8-A1XC-01A-11D-A14G-09 TCGA-D8-A1XC-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68fd3045-073d-4242-8a41-41b707fca625 fea77f35-8b5b-404e-a9e1-5b2d3d02fd4c 1 179063271 179063271 C T SNP TOR3A ENST00000367627 human ensembl 69_37n +1 known missense c.862 p.L288F 1.000 NULL pfam_Torsin - no_errors TOR3A HGNC ENSG00000186283 45 0 0.00 43 16 27.12 - - -