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 ABCC5 0 genome.wustl.edu 37 3 183677527 183677527 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 3 183677527 183677527 C T SNP ABCC5 ENST00000334444 human ensembl 69_37n -1 known missense c.2476 p.E826K 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 283 0 0.00 212 78 26.90 - - - APOB 0 genome.wustl.edu 37 2 21226147 21226147 + Silent SNP A A G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 2 21226147 21226147 A G SNP APOB ENST00000233242 human ensembl 69_37n -1 known silent c.12147 p.D4049 0.018 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 140 0 0.00 56 30 34.88 - - - CCDC107 0 genome.wustl.edu 37 9 35660615 35660615 + Silent SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 9 35660615 35660615 G A SNP CCDC107 ENST00000426546 human ensembl 69_37n +1 known silent c.381 p.L127 0.999 NULL NULL - no_errors CCDC107 HGNC ENSG00000159884 108 0 0.00 42 30 41.67 - - - CCDC74B 0 genome.wustl.edu 37 2 130897469 130897469 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 2 130897469 130897469 C T SNP CCDC74B ENST00000409488 human ensembl 69_37n -1 novel missense c.695 p.R232K 0.982 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 62 0 0.00 40 16 28.57 - - - CDH8 0 genome.wustl.edu 37 16 61935083 61935083 + Missense_Mutation SNP C C A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 16 61935083 61935083 C A SNP CDH8 ENST00000577390 human ensembl 69_37n -1 known missense c.547 p.G183C 1.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH8 HGNC ENSG00000150394 108 0 0.00 18 10 35.71 - - - CDK5RAP1 0 genome.wustl.edu 37 20 31967344 31967344 + Silent SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 20 31967344 31967344 G A SNP CDK5RAP1 ENST00000357886 human ensembl 69_37n -1 known silent c.1072 p.L358 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 89 0 0.00 43 20 31.75 - - - CORO6 0 genome.wustl.edu 37 17 27948283 27948283 + Frame_Shift_Del DEL C C - TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 17 27948283 27948283 C - DEL CORO6 ENST00000345068 human ensembl 69_37n -1 known frame_shift_del c.157 p.A53fs 1.000 pfam_DUF1899,superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 62 0 0.00 106 23 17.56 - - - CPNE8 0 genome.wustl.edu 37 12 39161456 39161456 + Nonsense_Mutation SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 12 39161456 39161456 G A SNP CPNE8 ENST00000331366 human ensembl 69_37n -1 known nonsense c.556 p.R186* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 112 0 0.00 32 26 44.83 - - - CSPG5 0 genome.wustl.edu 37 3 47610685 47610685 + Missense_Mutation SNP T T A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 3 47610685 47610685 T A SNP CSPG5 ENST00000383738 human ensembl 69_37n -1 known missense c.1415 p.D472V 1.000 pfam_Neural_ProG_Cyt pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 187 0 0.00 42 32 43.24 - - - CYP2F1 0 genome.wustl.edu 37 19 41627364 41627364 + Silent SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 19 41627364 41627364 C T SNP CYP2F1 ENST00000331105 human ensembl 69_37n +1 known silent c.486 p.G162 0.025 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 48 0 0.00 44 11 20.00 - - - DBC1 0 genome.wustl.edu 37 9 121971044 121971044 + Silent SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 9 121971044 121971044 G A SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known silent c.1098 p.L366 1.000 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 158 0 0.00 63 30 32.26 - - - DCST2 0 genome.wustl.edu 37 1 154995617 154995617 + Missense_Mutation SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 1 154995617 154995617 G A SNP DCST2 ENST00000368424 human ensembl 69_37n -1 known missense c.2081 p.S694L 0.002 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 60 0 0.00 18 18 50.00 - - - DNAJB5 0 genome.wustl.edu 37 9 34996381 34996381 + Missense_Mutation SNP T T C TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 9 34996381 34996381 T C SNP DNAJB5 ENST00000454002 human ensembl 69_37n +1 known missense c.547 p.F183L 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB5 HGNC ENSG00000137094 55 0 0.00 35 4 10.26 - - - DOK1 0 genome.wustl.edu 37 2 74783592 74783592 + Missense_Mutation SNP G G C TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 2 74783592 74783592 G C SNP DOK1 ENST00000233668 human ensembl 69_37n +1 known missense c.797 p.R266T 0.004 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK1 HGNC ENSG00000115325 41 0 0.00 15 8 34.78 - - - EPPK1 0 genome.wustl.edu 37 8 144940706 144940706 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 8 144940706 144940706 C T SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known missense c.6716 p.R2239H 0.950 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 31 0 0.00 31 6 16.22 - - - EYS 0 genome.wustl.edu 37 6 64431555 64431555 + Missense_Mutation SNP A A G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 6 64431555 64431555 A G SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.8435 p.V2812A 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 266 0 0.00 106 49 31.41 - - - FAM171B 0 genome.wustl.edu 37 2 187626830 187626830 + Silent SNP C C G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 2 187626830 187626830 C G SNP FAM171B ENST00000304698 human ensembl 69_37n +1 known silent c.1761 p.P587 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 87 0 0.00 30 25 45.45 - - - FAM76B 0 genome.wustl.edu 37 11 95520814 95520814 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 11 95520814 95520814 C T SNP FAM76B ENST00000358780 human ensembl 69_37n -1 known missense c.181 p.A61T 1.000 NULL NULL - no_errors FAM76B HGNC ENSG00000077458 137 0 0.00 32 31 49.21 - - - FOCAD 0 genome.wustl.edu 37 9 20990142 20990142 + Silent SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 9 20990142 20990142 G A SNP FOCAD ENST00000338382 human ensembl 69_37n +1 known silent c.5025 p.L1675 1.000 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 39 0 0.00 27 8 22.86 - - - GBP7 0 genome.wustl.edu 37 1 89630428 89630428 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 1 89630428 89630428 C T SNP GBP7 ENST00000294671 human ensembl 69_37n -1 known missense c.304 p.G102S 0.994 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC ENSG00000213512 130 0 0.00 59 16 21.33 - - - GJA3 0 genome.wustl.edu 37 13 20717290 20717290 + Silent SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 13 20717290 20717290 G A SNP GJA3 ENST00000241125 human ensembl 69_37n -1 known silent c.138 p.G46 0.137 pfam_Connexin_N,smart_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46 - no_errors GJA3 HGNC ENSG00000121743 95 0 0.00 33 25 43.10 - - - GNB2 0 genome.wustl.edu 37 7 100276323 100276323 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 7 100276323 100276323 C T SNP GNB2 ENST00000303210 human ensembl 69_37n +1 known missense c.922 p.L308F 1.000 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB2 HGNC ENSG00000172354 33 0 0.00 19 10 34.48 - - - GTF3C1 0 genome.wustl.edu 37 16 27556779 27556779 + Missense_Mutation SNP T T A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 16 27556779 27556779 T A SNP GTF3C1 ENST00000356183 human ensembl 69_37n -1 known missense c.287 p.D96V 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 65 0 0.00 54 16 22.86 - - - HERC2 0 genome.wustl.edu 37 15 28387403 28387403 + Missense_Mutation SNP G G C TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 15 28387403 28387403 G C SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.11681 p.P3894R 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 53 0 0.00 29 15 34.09 - - - HGF 0 genome.wustl.edu 37 7 81334803 81334803 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 7 81334803 81334803 C T SNP HGF ENST00000222390 human ensembl 69_37n -1 known missense c.1913 p.G638E 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,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 101 0 0.00 54 20 27.03 - - - HRNR 0 genome.wustl.edu 37 1 152186443 152186443 + Silent SNP A A G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 1 152186443 152186443 A G SNP HRNR ENST00000368801 human ensembl 69_37n -1 known silent c.7662 p.H2554 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 11 0 0.00 3 3 50.00 - - - KIAA1210 0 genome.wustl.edu 37 X 118221704 118221704 + Silent SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 X 118221704 118221704 C T SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known silent c.3489 p.K1163 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 110 0 0.00 34 15 30.61 - - - LBX1 0 genome.wustl.edu 37 10 102987344 102987344 + Missense_Mutation SNP G G T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 10 102987344 102987344 G T SNP LBX1 ENST00000370193 human ensembl 69_37n -1 known missense c.529 p.R177S 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 52 0 0.00 27 4 12.90 - - - LILRB1 0 genome.wustl.edu 37 19 55148052 55148052 + Missense_Mutation SNP C C A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 19 55148052 55148052 C A SNP LILRB1 ENST00000324602 human ensembl 69_37n +1 known missense c.1761 p.F587L 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB1 HGNC ENSG00000104972 146 0 0.00 91 23 20.18 - - - LRRC58 0 genome.wustl.edu 37 3 120067641 120067641 + Silent SNP C C G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 3 120067641 120067641 C G SNP LRRC58 ENST00000295628 human ensembl 69_37n -1 known silent c.450 p.L150 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC58 HGNC ENSG00000163428 17 0 0.00 14 4 22.22 - - - LRRC71 0 genome.wustl.edu 37 1 156890672 156890672 + Missense_Mutation SNP T T C TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 1 156890672 156890672 T C SNP LRRC71 ENST00000337428 human ensembl 69_37n +1 known missense c.77 p.V26A 0.011 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC71 HGNC ENSG00000160838 10 0 0.00 7 5 41.67 - - - LTV1 0 genome.wustl.edu 37 6 144183272 144183272 + Missense_Mutation SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 6 144183272 144183272 G A SNP LTV1 ENST00000367576 human ensembl 69_37n +1 known missense c.955 p.E319K 0.993 pfam_LTV pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 114 0 0.00 52 28 34.57 - - - LY86 0 genome.wustl.edu 37 6 6589046 6589046 + Missense_Mutation SNP T T G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 6 6589046 6589046 T G SNP LY86 ENST00000230568 human ensembl 69_37n +1 known missense c.79 p.W27G 0.983 NULL pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog - no_errors LY86 HGNC ENSG00000112799 75 0 0.00 45 13 22.41 - - - MTTP 0 genome.wustl.edu 37 4 100532382 100532382 + Missense_Mutation SNP A A G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 4 100532382 100532382 A G SNP MTTP ENST00000265517 human ensembl 69_37n +1 known missense c.1852 p.T618A 0.994 pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 158 0 0.00 58 25 30.12 - - - MYLK2 0 genome.wustl.edu 37 20 30409483 30409483 + Missense_Mutation SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 20 30409483 30409483 G A SNP MYLK2 ENST00000375985 human ensembl 69_37n +1 known missense c.715 p.E239K 0.907 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 MYLK2 HGNC ENSG00000101306 41 0 0.00 17 12 41.38 - - - NFATC2 0 genome.wustl.edu 37 20 50051765 50051765 + Missense_Mutation SNP C C G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 20 50051765 50051765 C G SNP NFATC2 ENST00000396009 human ensembl 69_37n -1 known missense c.1992 p.K664N 0.999 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD - no_errors NFATC2 HGNC ENSG00000101096 171 0 0.00 77 37 32.46 - - - OR4Q3 0 genome.wustl.edu 37 14 20216391 20216391 + Missense_Mutation SNP G G A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 14 20216391 20216391 G A SNP OR4Q3 ENST00000331723 human ensembl 69_37n +1 known missense c.805 p.D269N 0.975 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 OR4Q3 HGNC ENSG00000182652 150 0 0.00 72 18 20.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 91 0 0.00 31 41 56.94 - - - RBP1 0 genome.wustl.edu 37 3 139258365 139258365 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 3 139258365 139258365 C T SNP RBP1 ENST00000232219 human ensembl 69_37n -1 known missense c.196 p.D66N 1.000 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP1 HGNC ENSG00000114115 12 0 0.00 10 7 41.18 - - - SETD1A 0 genome.wustl.edu 37 16 30975564 30975564 + Silent SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 16 30975564 30975564 C T SNP SETD1A ENST00000262519 human ensembl 69_37n +1 known silent c.789 p.F263 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 53 0 0.00 28 24 46.15 - - - SGSM3 0 genome.wustl.edu 37 22 40802535 40802535 + Missense_Mutation SNP G G C TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 22 40802535 40802535 G C SNP SGSM3 ENST00000248929 human ensembl 69_37n +1 known missense c.1054 p.G352R 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 16 0 0.00 13 7 35.00 - - - SIGLEC8 0 genome.wustl.edu 37 19 51961352 51961352 + Missense_Mutation SNP T T C TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 19 51961352 51961352 T C SNP SIGLEC8 ENST00000321424 human ensembl 69_37n -1 known missense c.290 p.Q97R 0.003 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC ENSG00000105366 302 1 0.33 165 54 24.55 - - - SLC6A5 0 genome.wustl.edu 37 11 20676303 20676303 + Missense_Mutation SNP C C G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 11 20676303 20676303 C G SNP SLC6A5 ENST00000525748 human ensembl 69_37n +1 known missense c.2283 p.F761L 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 63 0 0.00 29 13 30.95 - - - SLIT2 0 genome.wustl.edu 37 4 20490503 20490503 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 4 20490503 20490503 C T SNP SLIT2 ENST00000504154 human ensembl 69_37n +1 known missense c.673 p.R225C 1.000 smart_Cys-rich_flank_reg_C pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 94 0 0.00 41 20 32.79 - - - SS18 0 genome.wustl.edu 37 18 23619391 23619391 + Missense_Mutation SNP G G C TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 18 23619391 23619391 G C SNP SS18 ENST00000415083 human ensembl 69_37n -1 known missense c.637 p.Q213E 1.000 NULL pfam_SSXT - no_errors SS18 HGNC ENSG00000141380 150 0 0.00 38 29 43.28 - - - TMCC3 0 genome.wustl.edu 37 12 94975411 94975411 + Missense_Mutation SNP C C G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 12 94975411 94975411 C G SNP TMCC3 ENST00000261226 human ensembl 69_37n -1 known missense c.982 p.E328Q 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 35 0 0.00 28 7 20.00 - - - TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C A TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 17 7577120 7577120 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.818 p.R273L 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 95 0 0.00 16 13 44.83 - - - TTN 0 genome.wustl.edu 37 2 179426582 179426582 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 2 179426582 179426582 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.76573 p.E25525K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 59 0 0.00 36 5 12.20 - - - UPK1A 0 genome.wustl.edu 37 19 36164378 36164378 + Silent SNP G G C TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 19 36164378 36164378 G C SNP UPK1A ENST00000379013 human ensembl 69_37n +1 known silent c.399 p.L133 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 19 0 0.00 10 6 37.50 - - - WDYHV1 0 genome.wustl.edu 37 8 124442245 124442245 + Missense_Mutation SNP C C G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 8 124442245 124442245 C G SNP WDYHV1 ENST00000287387 human ensembl 69_37n +1 known missense c.206 p.A69G 1.000 pfam_Prot_N_Gln_amidohydro_ab_roll pfam_Prot_N_Gln_amidohydro_ab_roll - no_errors WDYHV1 HGNC ENSG00000156795 115 0 0.00 63 23 26.74 - - - XIRP2 0 genome.wustl.edu 37 2 168107692 168107692 + Missense_Mutation SNP A A G TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3db354e-f22c-4576-a7d7-6515f1c11002 327119a0-07dd-46c3-8b02-733bfaa5f959 2 168107692 168107692 A G SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.9790 p.K3264E 0.998 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 37 0 0.00 14 7 33.33 - - -