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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ABCC5 10057 genome.wustl.edu 37 3 183689641 183689641 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 183689641 183689641 C T SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known missense c.1471 p.E491K 1.000 NULL 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 ADAD1 132612 genome.wustl.edu 37 4 123332499 123332499 + Missense_Mutation SNP T T A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 123332499 123332499 T A SNP ADAD1 ENST00000296513 human ensembl 70_37 +1 known missense c.971 p.L324H 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ADAM28 10863 genome.wustl.edu 37 8 24181361 24181361 + Silent SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 8 24181361 24181361 C T SNP ADAM28 ENST00000265769 human ensembl 70_37 +1 known silent c.735 p.L245 0.925 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ADAM29 11086 genome.wustl.edu 37 4 175898988 175898988 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 175898988 175898988 G A SNP ADAM29 ENST00000359240 human ensembl 70_37 +1 known missense c.2312 p.R771Q 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ADAMTS6 11174 genome.wustl.edu 37 5 64766877 64766877 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 64766877 64766877 C T SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.190 p.D64N 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC ADCY5 111 genome.wustl.edu 37 3 123044256 123044256 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 123044256 123044256 G A SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known silent c.2001 p.I667 0.457 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ANKRD37 353322 genome.wustl.edu 37 4 186320755 186320755 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 186320755 186320755 G A SNP ANKRD37 ENST00000335174 human ensembl 70_37 +1 known missense c.304 p.D102N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD37 HGNC BAAT 570 genome.wustl.edu 37 9 104130403 104130404 + Frame_Shift_Del DEL TT TT - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 9 104130403 104130404 TT - DEL BAAT ENST00000259407 human ensembl 70_37 -1 known frame_shift_del c.668_667 p.K223fs 1.000:0.930 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC BRWD3 254065 genome.wustl.edu 37 X 79932387 79932387 + Silent SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 79932387 79932387 C G SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known silent c.5130 p.G1710 0.988 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC C12orf43 64897 genome.wustl.edu 37 12 121444193 121444193 + Missense_Mutation SNP T T A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 12 121444193 121444193 T A SNP C12orf43 ENST00000288757 human ensembl 70_37 -1 known missense c.292 p.I98F 1.000 NULL NULL - no_errors C12orf43 HGNC C2orf54 79919 genome.wustl.edu 37 2 241831156 241831156 + Missense_Mutation SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 241831156 241831156 C G SNP C2orf54 ENST00000388934 human ensembl 70_37 -1 known missense c.539 p.R180T 0.023 NULL NULL - no_errors C2orf54 HGNC C7orf57 136288 genome.wustl.edu 37 7 48092508 48092508 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 7 48092508 48092508 G A SNP C7orf57 ENST00000348904 human ensembl 70_37 +1 known missense c.817 p.E273K 0.010 NULL NULL - no_errors C7orf57 HGNC C9orf163 158055 genome.wustl.edu 37 9 139379423 139379423 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 9 139379423 139379423 G A SNP C9orf163 ENST00000354376 human ensembl 70_37 +1 known missense c.523 p.A175T 0.000 NULL NULL - no_errors C9orf163 HGNC CCBE1 147372 genome.wustl.edu 37 18 57106986 57106986 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 18 57106986 57106986 C T SNP CCBE1 ENST00000439986 human ensembl 70_37 -1 known missense c.838 p.G280S 0.999 pfam_Collagen pfam_Collagen,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors CCBE1 HGNC CDC5L 988 genome.wustl.edu 37 6 44361207 44361207 + Frame_Shift_Del DEL T T - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 44361207 44361207 T - DEL CDC5L ENST00000371477 human ensembl 70_37 +1 known frame_shift_del c.336 p.N112fs 1.000 superfamily_Homeodomain-like pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC COL6A3 1293 genome.wustl.edu 37 2 238249105 238249105 + Frame_Shift_Del DEL G G - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 238249105 238249105 G - DEL COL6A3 ENST00000295550 human ensembl 70_37 -1 known frame_shift_del c.8454 p.F2819fs 0.898 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC COL6A6 131873 genome.wustl.edu 37 3 130360553 130360553 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 130360553 130360553 C T SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.5149 p.R1717C 0.996 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC CYBB 1536 genome.wustl.edu 37 X 37663318 37663318 + Silent SNP A A T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 37663318 37663318 A T SNP CYBB ENST00000378588 human ensembl 70_37 +1 known silent c.1086 p.T362 0.824 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC DBC1 0 genome.wustl.edu 37 9 122011249 122011249 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 9 122011249 122011249 G A SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known missense c.398 p.A133V 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC DMRT3 58524 genome.wustl.edu 37 9 990870 990870 + Silent SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 9 990870 990870 C T SNP DMRT3 ENST00000190165 human ensembl 70_37 +1 known silent c.1284 p.R428 0.004 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC DNAH5 1767 genome.wustl.edu 37 5 13762907 13762907 + Frame_Shift_Del DEL T T - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 13762907 13762907 T - DEL DNAH5 ENST00000265104 human ensembl 70_37 -1 known frame_shift_del c.10205 p.N3402fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC EPG5 57724 genome.wustl.edu 37 18 43532369 43532369 + Nonsense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 18 43532369 43532369 G A SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known nonsense c.1249 p.R417* 0.293 NULL NULL - no_errors EPG5 HGNC ERCC8 1161 genome.wustl.edu 37 5 60186820 60186820 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 60186820 60186820 C T SNP ERCC8 ENST00000265038 human ensembl 70_37 -1 known missense c.937 p.G313S 1.000 superfamily_WD40_repeat_dom,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 ERCC8 HGNC FRG1B 284802 genome.wustl.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 29625941 29625941 A T SNP FRG1B ENST00000278882 human ensembl 70_37 +1 known missense c.185 p.D62V 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC GAS2L2 246176 genome.wustl.edu 37 17 34073404 34073404 + Missense_Mutation SNP G G C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 17 34073404 34073404 G C SNP GAS2L2 ENST00000254466 human ensembl 70_37 -1 known missense c.1112 p.S371C 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC GBP6 163351 genome.wustl.edu 37 1 89846126 89846126 + Frame_Shift_Del DEL T T - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 1 89846126 89846126 T - DEL GBP6 ENST00000370456 human ensembl 70_37 +1 known frame_shift_del c.807 p.S270fs 0.964 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP6 HGNC HELZ2 85441 genome.wustl.edu 37 20 62192594 62192594 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 62192594 62192594 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.6987 p.F2329 0.079 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HIVEP1 3096 genome.wustl.edu 37 6 12121870 12121870 + Silent SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 12121870 12121870 C T SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known silent c.1842 p.S614 0.042 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HSPA13 6782 genome.wustl.edu 37 21 15746528 15746528 + Missense_Mutation SNP C C A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 21 15746528 15746528 C A SNP HSPA13 ENST00000285667 human ensembl 70_37 -1 known missense c.826 p.G276C 0.998 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA13 HGNC HSPBAP1 79663 genome.wustl.edu 37 3 122459641 122459641 + Missense_Mutation SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 122459641 122459641 C G SNP HSPBAP1 ENST00000306103 human ensembl 70_37 -1 known missense c.1018 p.E340Q 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC IMPG2 50939 genome.wustl.edu 37 3 100962778 100962778 + Silent SNP T T A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 100962778 100962778 T A SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known silent c.2397 p.A799 0.940 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC IQCG 84223 genome.wustl.edu 37 3 197639609 197639609 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 197639609 197639609 C T SNP IQCG ENST00000265239 human ensembl 70_37 -1 known missense c.900 p.M300I 0.659 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC IRS4 8471 genome.wustl.edu 37 X 107979294 107979294 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 107979294 107979294 C T SNP IRS4 ENST00000372129 human ensembl 70_37 -1 known missense c.281 p.R94H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ITPR1 3708 genome.wustl.edu 37 3 4732969 4732970 + Frame_Shift_Ins INS - - T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 4732969 4732970 - T INS ITPR1 ENST00000302640 human ensembl 70_37 +1 known frame_shift_ins c.3925_3926 p.T1309fs 1.000:1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC IZUMO4 113177 genome.wustl.edu 37 19 2097444 2097444 + Missense_Mutation SNP G G C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 19 2097444 2097444 G C SNP IZUMO4 ENST00000395307 human ensembl 70_37 +1 known missense c.461 p.R154P 0.739 NULL NULL - no_errors IZUMO4 HGNC IZUMO4 113177 genome.wustl.edu 37 19 2097458 2097458 + Nonsense_Mutation SNP G G T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 19 2097458 2097458 G T SNP IZUMO4 ENST00000395307 human ensembl 70_37 +1 known nonsense c.475 p.E159* 1.000 NULL NULL - no_errors IZUMO4 HGNC KIF20B 9585 genome.wustl.edu 37 10 91469150 91469150 + Nonsense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 10 91469150 91469150 C T SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known nonsense c.283 p.Q95* 0.852 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC KRT17P1 147228 genome.wustl.edu 37 17 16746889 16746889 + RNA SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 17 16746889 16746889 C G SNP KRT17P1 ENST00000577449 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors KRT17P1 HGNC LRPPRC 10128 genome.wustl.edu 37 2 44161369 44161372 + Frame_Shift_Del DEL AGGA AGGA - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 AGGA AGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 44161369 44161372 AGGA - DEL LRPPRC ENST00000260665 human ensembl 70_37 -1 known frame_shift_del c.2696_2693 p.F898fs 1.000:1.000:1.000:1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC MAGEC2 51438 genome.wustl.edu 37 X 141290713 141290713 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 141290713 141290713 G A SNP MAGEC2 ENST00000247452 human ensembl 70_37 -1 known missense c.1061 p.A354V 0.002 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC MED12 9968 genome.wustl.edu 37 X 70342153 70342153 + Missense_Mutation SNP C C A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 70342153 70342153 C A SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.1205 p.S402Y 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC MS4A6A 64231 genome.wustl.edu 37 11 59949162 59949162 + Silent SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 11 59949162 59949162 C T SNP MS4A6A ENST00000323961 human ensembl 70_37 -1 known silent c.39 p.V13 0.000 superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors MS4A6A HGNC MUC17 140453 genome.wustl.edu 37 7 100685735 100685735 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 7 100685735 100685735 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.11038 p.E3680K 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC NINL 22981 genome.wustl.edu 37 20 25491352 25491352 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 25491352 25491352 C T SNP NINL ENST00000278886 human ensembl 70_37 -1 known missense c.475 p.E159K 0.082 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC OR2M5 127059 genome.wustl.edu 37 1 248309230 248309230 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 1 248309230 248309230 C T SNP OR2M5 ENST00000366476 human ensembl 70_37 +1 known missense c.781 p.R261W 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC OR4D10 390197 genome.wustl.edu 37 11 59245562 59245562 + Silent SNP C C A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 11 59245562 59245562 C A SNP OR4D10 ENST00000530162 human ensembl 70_37 +1 known silent c.660 p.V220 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC PABPC1L 80336 genome.wustl.edu 37 20 43564065 43564065 + Missense_Mutation SNP G G T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 43564065 43564065 G T SNP PABPC1L ENST00000217073 human ensembl 70_37 +1 known missense c.1478 p.G493V 0.000 superfamily_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC PAK7 57144 genome.wustl.edu 37 20 9546627 9546627 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 9546627 9546627 G A SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known silent c.1395 p.I465 0.994 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,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC PCDHA1 56147 genome.wustl.edu 37 5 140167432 140167432 + Silent SNP A A G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140167432 140167432 A G SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.1557 p.A519 0.949 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC PCDHA1 56147 genome.wustl.edu 37 5 140167441 140167441 + Silent SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140167441 140167441 C G SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.1566 p.P522 0.290 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC PCDHA1 56147 genome.wustl.edu 37 5 140167459 140167459 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140167459 140167459 G A SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.1584 p.L528 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC PCDHA2 56146 genome.wustl.edu 37 5 140175999 140175999 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140175999 140175999 G A SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known missense c.1450 p.A484T 0.280 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC PCDHGB1 56104 genome.wustl.edu 37 5 140730746 140730746 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140730746 140730746 G A SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known missense c.919 p.E307K 0.999 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 PCDHGB1 HGNC RAB3GAP1 22930 genome.wustl.edu 37 2 135891462 135891462 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 135891462 135891462 C T SNP RAB3GAP1 ENST00000264158 human ensembl 70_37 +1 known missense c.1358 p.S453F 0.998 NULL NULL - no_errors RAB3GAP1 HGNC RFX6 222546 genome.wustl.edu 37 6 117199067 117199067 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 117199067 117199067 C T SNP RFX6 ENST00000332958 human ensembl 70_37 +1 known missense c.332 p.T111M 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC RHBDD1 84236 genome.wustl.edu 37 2 227773550 227773550 + Frame_Shift_Del DEL C C - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 227773550 227773550 C - DEL RHBDD1 ENST00000341329 human ensembl 70_37 +1 known frame_shift_del c.668 p.S224fs 0.190 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD1 HGNC SBNO1 55206 genome.wustl.edu 37 12 123799990 123799990 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 12 123799990 123799990 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.3050 p.G1017E 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC SCN10A 6336 genome.wustl.edu 37 3 38793865 38793865 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 38793865 38793865 G A SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known missense c.1600 p.R534W 0.002 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC SNRNP48 154007 genome.wustl.edu 37 6 7605687 7605688 + Frame_Shift_Ins INS - - G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 7605687 7605688 - G INS SNRNP48 ENST00000342415 human ensembl 70_37 +1 known frame_shift_ins c.774_775 p.E258fs 0.984:1.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC TACC3 10460 genome.wustl.edu 37 4 1732898 1732899 + Frame_Shift_Ins INS - - GAGA TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 1732898 1732899 - GAGA INS TACC3 ENST00000313288 human ensembl 70_37 +1 known frame_shift_ins c.1463_1462 p.A490fs 0.082:0.084 NULL pfam_TACC - no_errors TACC3 HGNC TACO1 51204 genome.wustl.edu 37 17 61685348 61685348 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 17 61685348 61685348 G A SNP TACO1 ENST00000258975 human ensembl 70_37 +1 known missense c.880 p.D294N 1.000 pfam_Transcrip_reg_TACO1-like pfam_Transcrip_reg_TACO1-like - no_errors TACO1 HGNC TIMELESS 8914 genome.wustl.edu 37 12 56811921 56811921 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 12 56811921 56811921 C T SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.3451 p.E1151K 0.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TP53 7157 genome.wustl.edu 37 17 7572982 7572982 + Missense_Mutation SNP G G C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 17 7572982 7572982 G C SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.1127 p.S376C 0.956 NULL 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 TPO 7173 genome.wustl.edu 37 2 1500418 1500418 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 1500418 1500418 G A SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.2267 p.C756Y 0.653 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC TRPC3 7222 genome.wustl.edu 37 4 122853996 122853996 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 122853996 122853996 G A SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known silent c.417 p.N139 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC TTC40 54777 genome.wustl.edu 37 10 134627759 134627759 + Splice_Site SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 10 134627759 134627759 C T SNP TTC40 ENST00000263170 human ensembl 70_37 -1 known splice_site c.1769-1 e16-1 0.853 - - - no_errors TTC40 HGNC TTN 7273 genome.wustl.edu 37 2 179417593 179417593 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 179417593 179417593 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.82330 p.E27444K 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 UBR4 23352 genome.wustl.edu 37 1 19419826 19419826 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 1 19419826 19419826 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.14092 p.H4698Y 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC UGT2A3 79799 genome.wustl.edu 37 4 69796884 69796884 + Missense_Mutation SNP T T G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 69796884 69796884 T G SNP UGT2A3 ENST00000251566 human ensembl 70_37 -1 known missense c.1073 p.N358T 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC USH2A 7399 genome.wustl.edu 37 1 215901538 215901538 + Missense_Mutation SNP T T C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 1 215901538 215901538 T C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.11900 p.D3967G 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC WDR53 348793 genome.wustl.edu 37 3 196287874 196287874 + Missense_Mutation SNP T T C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 196287874 196287874 T C SNP WDR53 ENST00000332629 human ensembl 70_37 -1 known missense c.473 p.D158G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR53 HGNC WHSC1 7468 genome.wustl.edu 37 4 1944085 1944085 + Missense_Mutation SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 1944085 1944085 C G SNP WHSC1 ENST00000312087 human ensembl 70_37 +1 known missense c.1901 p.P634R 1.000 NULL pfam_PWWP,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,pfscan_PWWP,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ZNF318 24149 genome.wustl.edu 37 6 43323777 43323777 + Missense_Mutation SNP A A G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 43323777 43323777 A G SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.1295 p.I432T 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC