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 ADAMDEC1 0 genome.wustl.edu 37 8 24259508 24259508 + Missense_Mutation SNP T T A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 8 24259508 24259508 T A SNP ADAMDEC1 ENST00000256412 human ensembl 69_37n +1 known missense c.1223 p.L408Q 0.771 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 102 0 0.00 133 27 16.88 - - - ADAMTS20 0 genome.wustl.edu 37 12 43837653 43837653 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 43837653 43837653 G A SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.2231 p.A744V 1.000 pfam_ADAM_spacer1 pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 220 0 0.00 154 41 21.03 - - - AFG3L2 0 genome.wustl.edu 37 18 12337422 12337422 + Missense_Mutation SNP T T C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 18 12337422 12337422 T C SNP AFG3L2 ENST00000269143 human ensembl 69_37n -1 known missense c.2093 p.D698G 1.000 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 158 0 0.00 78 31 28.44 - - - AKNA 0 genome.wustl.edu 37 9 117120245 117120245 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 9 117120245 117120245 G A SNP AKNA ENST00000307564 human ensembl 69_37n -1 known missense c.2695 p.L899F 0.145 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 86 0 0.00 65 17 20.73 - - - ANKRD36C 0 genome.wustl.edu 37 2 96521508 96521508 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 2 96521508 96521508 G A SNP ANKRD36C ENST00000456556 human ensembl 69_37n -1 known missense c.4501 p.H1501Y 0.926 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 144 0 0.00 101 34 25.19 - - - AOC2 0 genome.wustl.edu 37 17 41002222 41002222 + Missense_Mutation SNP G G T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 17 41002222 41002222 G T SNP AOC2 ENST00000253799 human ensembl 69_37n +1 known missense c.2128 p.D710Y 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 550 0 0.00 380 122 24.30 - - - ARAP3 0 genome.wustl.edu 37 5 141052414 141052415 + Frame_Shift_Ins INS - - G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 5 141052414 141052415 - G INS ARAP3 ENST00000239440 human ensembl 69_37n -1 known frame_shift_ins c.1172_1171 p.Q391fs 0.039:0.035 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 28 0 0.00 27 3 10.00 - - - ARHGEF4 0 genome.wustl.edu 37 2 131688585 131688585 + Missense_Mutation SNP G G T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 2 131688585 131688585 G T SNP ARHGEF4 ENST00000326016 human ensembl 69_37n +1 known missense c.55 p.A19S 0.003 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 142 0 0.00 102 24 19.05 - - - ASB8 0 genome.wustl.edu 37 12 48543359 48543359 + Missense_Mutation SNP T T G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 48543359 48543359 T G SNP ASB8 ENST00000317697 human ensembl 69_37n -1 known missense c.657 p.E219D 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB8 HGNC ENSG00000177981 77 0 0.00 126 16 11.27 - - - BAZ1A 0 genome.wustl.edu 37 14 35231037 35231037 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 14 35231037 35231037 G A SNP BAZ1A ENST00000360310 human ensembl 69_37n -1 known missense c.4169 p.S1390F 0.002 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 253 0 0.00 398 84 17.39 - - - C12orf57 0 genome.wustl.edu 37 12 7053758 7053761 + Frame_Shift_Del DEL GCCA GCCA - TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 GCCA GCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 7053758 7053761 GCCA - DEL C12orf57 ENST00000229281 human ensembl 69_37n +1 known frame_shift_del c.172_175 p.A58fs 1.000:1.000:1.000:1.000 NULL NULL - no_errors C12orf57 HGNC ENSG00000111678 26 0 0.00 21 4 16.00 - - - C12orf57 0 genome.wustl.edu 37 12 7053762 7053763 + Frame_Shift_Ins INS - - T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 7053762 7053763 - T INS C12orf57 ENST00000229281 human ensembl 69_37n +1 known frame_shift_ins c.176_177 p.Q60fs 1.000:1.000 NULL NULL - no_errors C12orf57 HGNC ENSG00000111678 26 0 0.00 21 4 16.00 - - - C5orf42 0 genome.wustl.edu 37 5 37157925 37157925 + Missense_Mutation SNP G G C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 5 37157925 37157925 G C SNP C5orf42 ENST00000274258 human ensembl 69_37n -1 known missense c.4498 p.L1500V 0.939 NULL NULL - no_errors C5orf42 HGNC ENSG00000197603 65 0 0.00 54 23 29.87 - - - C9orf3 0 genome.wustl.edu 37 9 97522520 97522520 + Missense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 9 97522520 97522520 C T SNP C9orf3 ENST00000375315 human ensembl 69_37n +1 known missense c.455 p.S152F 0.998 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 503 0 0.00 509 108 17.48 - - - CCDC155 0 genome.wustl.edu 37 19 49898468 49898468 + Missense_Mutation SNP G G T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 19 49898468 49898468 G T SNP CCDC155 ENST00000447857 human ensembl 69_37n +1 known missense c.254 p.G85V 0.114 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 142 0 0.00 99 44 30.77 - - - CCT6B 0 genome.wustl.edu 37 17 33266704 33266704 + Missense_Mutation SNP C C G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 17 33266704 33266704 C G SNP CCT6B ENST00000314144 human ensembl 69_37n -1 known missense c.997 p.V333L 0.995 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 188 0 0.00 203 36 15.06 - - - CD19 0 genome.wustl.edu 37 16 28944363 28944363 + Missense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 16 28944363 28944363 C T SNP CD19 ENST00000538922 human ensembl 69_37n +1 known missense c.487 p.R163C 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD19 HGNC ENSG00000177455 77 0 0.00 83 13 13.54 - - - COL15A1 0 genome.wustl.edu 37 9 101765816 101765816 + Missense_Mutation SNP G G T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 9 101765816 101765816 G T SNP COL15A1 ENST00000375001 human ensembl 69_37n +1 known missense c.1147 p.G383W 0.000 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 60 0 0.00 61 9 12.86 - - - CX3CR1 0 genome.wustl.edu 37 3 39323136 39323136 + Missense_Mutation SNP C C A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 3 39323136 39323136 C A SNP CX3CR1 ENST00000358309 human ensembl 69_37n -1 known missense c.51 p.K17N 0.245 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_fractalkine_CX3CR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 53 0 0.00 37 6 13.95 - - - CYP2S1 0 genome.wustl.edu 37 19 41709354 41709354 + Splice_Site SNP G G C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 19 41709354 41709354 G C SNP CYP2S1 ENST00000310054 human ensembl 69_37n +1 known splice_site c.977-1 e7-1 0.999 - - - no_errors CYP2S1 HGNC ENSG00000167600 46 0 0.00 26 7 21.21 - - - DCAF12L1 0 genome.wustl.edu 37 X 125685704 125685704 + Silent SNP G G T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 X 125685704 125685704 G T SNP DCAF12L1 ENST00000371126 human ensembl 69_37n -1 known silent c.888 p.S296 0.998 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 23 0 0.00 9 8 44.44 - - - DENND5B 0 genome.wustl.edu 37 12 31542280 31542280 + Missense_Mutation SNP T T A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 31542280 31542280 T A SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known missense c.3724 p.I1242F 1.000 pfam_Run,smart_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 35 0 0.00 43 9 17.31 - - - ELF1 0 genome.wustl.edu 37 13 41533074 41533074 + Missense_Mutation SNP G G C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 13 41533074 41533074 G C SNP ELF1 ENST00000239882 human ensembl 69_37n -1 known missense c.151 p.L51V 0.542 pfam_TF_Elf_N pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF1 HGNC ENSG00000120690 102 0 0.00 47 22 31.43 - - - EMR3 0 genome.wustl.edu 37 19 14774246 14774246 + Frame_Shift_Del DEL G G - TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 19 14774246 14774246 G - DEL EMR3 ENST00000253673 human ensembl 69_37n -1 known frame_shift_del c.183 p.L62fs 0.000 smart_EGF-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 61 0 0.00 89 17 15.89 - - - FAM153C 0 genome.wustl.edu 37 5 177457620 177457620 + Silent SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 5 177457620 177457620 C T SNP FAM153C ENST00000511189 human ensembl 69_37n +1 novel silent c.27 p.L9 0.000 NULL prints_FAM153 - no_errors FAM153C HGNC ENSG00000204677 75 0 0.00 85 10 10.53 - - - FAM22F 0 genome.wustl.edu 37 9 97087707 97087707 + Missense_Mutation SNP T T C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 9 97087707 97087707 T C SNP FAM22F ENST00000253262 human ensembl 69_37n -1 known missense c.526 p.R176G 0.000 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 33 0 0.00 22 3 12.00 - - - FLJ38723 0 genome.wustl.edu 37 15 62538839 62538839 + RNA SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 15 62538839 62538839 G A SNP FLJ38723 ENST00000570077 human ensembl 69_37n -1 known rna NULL NULL 0.019 - - - no_errors RP11-299H22.3 Clone_based_vega_gene ENSG00000166104 31 0 0.00 12 5 29.41 - - - GEMIN5 0 genome.wustl.edu 37 5 154284974 154284974 + Missense_Mutation SNP T T C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 5 154284974 154284974 T C SNP GEMIN5 ENST00000285873 human ensembl 69_37n -1 known missense c.2458 p.I820V 0.052 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 132 0 0.00 80 42 34.43 - - - HIST1H2BJ 0 genome.wustl.edu 37 6 27100194 27100194 + Silent SNP C C A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 6 27100194 27100194 C A SNP HIST1H2BJ ENST00000339812 human ensembl 69_37n -1 known silent c.336 p.V112 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BJ HGNC ENSG00000124635 128 0 0.00 93 18 16.22 - - - ICA1L 0 genome.wustl.edu 37 2 203653586 203653586 + Missense_Mutation SNP C C G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 2 203653586 203653586 C G SNP ICA1L ENST00000358299 human ensembl 69_37n -1 known missense c.1210 p.D404H 1.000 pfam_Islet_autoAg_Ica1_C pfam_Islet_autoAg_Ica1_C,pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ICA1L HGNC ENSG00000163596 150 1 0.66 162 36 18.18 - - - KIAA1109 0 genome.wustl.edu 37 4 123159399 123159399 + Nonsense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 4 123159399 123159399 C T SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known nonsense c.3727 p.Q1243* 0.997 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 151 0 0.00 178 70 28.23 - - - KLHL18 0 genome.wustl.edu 37 3 47382093 47382093 + Missense_Mutation SNP A A T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 3 47382093 47382093 A T SNP KLHL18 ENST00000232766 human ensembl 69_37n +1 known missense c.1153 p.I385F 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 151 0 0.00 55 17 23.61 - - - LRRC23 0 genome.wustl.edu 37 12 7019120 7019120 + Nonsense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 7019120 7019120 C T SNP LRRC23 ENST00000007969 human ensembl 69_37n +1 known nonsense c.688 p.R230* 0.999 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC ENSG00000010626 134 1 0.74 106 42 28.38 - - - LRRIQ4 0 genome.wustl.edu 37 3 169540420 169540420 + Silent SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 3 169540420 169540420 G A SNP LRRIQ4 ENST00000340806 human ensembl 69_37n +1 known silent c.711 p.S237 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 106 0 0.00 180 25 12.14 - - - MRPL52 0 genome.wustl.edu 37 14 23299300 23299300 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 14 23299300 23299300 G A SNP MRPL52 ENST00000355151 human ensembl 69_37n +1 known missense c.70 p.G24S 0.565 NULL NULL - no_errors MRPL52 HGNC ENSG00000172590 21 0 0.00 33 13 28.26 - - - MUC16 0 genome.wustl.edu 37 19 9008211 9008211 + Missense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 19 9008211 9008211 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.39341 p.G13114D 0.019 smart_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 974 0 0.00 813 218 21.10 - - - NFE2L3 0 genome.wustl.edu 37 7 26224166 26224167 + Frame_Shift_Del DEL GA GA - TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 7 26224166 26224167 GA - DEL NFE2L3 ENST00000056233 human ensembl 69_37n +1 known frame_shift_del c.848_849 p.D284fs 0.960:0.971 NULL pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 385 0 0.00 317 100 23.98 - - - OR7A2P 0 genome.wustl.edu 37 19 14975331 14975331 + Missense_Mutation SNP A A C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 19 14975331 14975331 A C SNP OR7A2P ENST00000304105 human ensembl 69_37n -1 known missense c.197 p.L66R 0.762 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_start_codon OR7A2P HGNC ENSG00000172148 221 1 0.45 261 80 23.46 - - - OTOA 0 genome.wustl.edu 37 16 21742179 21742179 + Silent SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 16 21742179 21742179 C T SNP OTOA ENST00000286149 human ensembl 69_37n +1 known silent c.2271 p.A757 0.282 NULL NULL - no_errors OTOA HGNC ENSG00000155719 43 0 0.00 60 8 11.76 - - - OVCA2 0 genome.wustl.edu 37 17 1946346 1946346 + Missense_Mutation SNP C C G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 17 1946346 1946346 C G SNP OVCA2 ENST00000263084 human ensembl 69_37n +1 known missense c.632 p.A211G 0.170 pfam_Serine_hydrolase_FSH pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase - no_errors OVCA2 HGNC ENSG00000214014 39 0 0.00 19 19 50.00 - - - PEAR1 0 genome.wustl.edu 37 1 156874586 156874586 + Missense_Mutation SNP C C G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 1 156874586 156874586 C G SNP PEAR1 ENST00000292357 human ensembl 69_37n +1 known missense c.148 p.L50V 0.147 superfamily_Growth_fac_rcpt,pfscan_EMI_domain pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 125 0 0.00 96 25 20.66 - - - PLCH1 0 genome.wustl.edu 37 3 155199904 155199904 + Missense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 3 155199904 155199904 C T SNP PLCH1 ENST00000340059 human ensembl 69_37n -1 known missense c.3935 p.R1312H 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 166 0 0.00 119 28 19.05 - - - PRPS2 0 genome.wustl.edu 37 X 12837706 12837706 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 X 12837706 12837706 G A SNP PRPS2 ENST00000398491 human ensembl 69_37n +1 known missense c.620 p.R207Q 1.000 pfam_PRibTrfase,tigrfam_Rib-P_diPkinase pfam_PRibTrfase,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC ENSG00000101911 132 0 0.00 60 49 44.95 - - - PTPN22 0 genome.wustl.edu 37 1 114372309 114372309 + Missense_Mutation SNP C C G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 1 114372309 114372309 C G SNP PTPN22 ENST00000359785 human ensembl 69_37n -1 known missense c.2155 p.E719Q 0.042 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 187 0 0.00 264 37 12.25 - - - SCN5A 0 genome.wustl.edu 37 3 38655318 38655318 + Missense_Mutation SNP T T C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 3 38655318 38655318 T C SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known missense c.619 p.T207A 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 23 0 0.00 12 5 29.41 - - - SEC31A 0 genome.wustl.edu 37 4 83793139 83793139 + Missense_Mutation SNP C C A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 4 83793139 83793139 C A SNP SEC31A ENST00000432794 human ensembl 69_37n -1 known missense c.740 p.R247L 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 - no_errors SEC31A HGNC ENSG00000138674 96 0 0.00 85 65 43.33 - - - SI 0 genome.wustl.edu 37 3 164764723 164764723 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 3 164764723 164764723 G A SNP SI ENST00000264382 human ensembl 69_37n -1 known missense c.1793 p.A598V 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF 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 164 0 0.00 126 30 19.23 - - - SLC12A5 0 genome.wustl.edu 37 20 44665392 44665392 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 20 44665392 44665392 G A SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.508 p.A170T 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 34 0 0.00 51 7 12.07 - - - SLC39A5 0 genome.wustl.edu 37 12 56625119 56625119 + Missense_Mutation SNP T T C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 56625119 56625119 T C SNP SLC39A5 ENST00000266980 human ensembl 69_37n +1 known missense c.61 p.W21R 0.899 NULL pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 81 0 0.00 80 23 22.33 - - - SLITRK6 0 genome.wustl.edu 37 13 86370546 86370546 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 13 86370546 86370546 G A SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known missense c.98 p.S33F 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 235 1 0.42 191 63 24.80 - - - SLITRK6 0 genome.wustl.edu 37 13 86370547 86370547 + Missense_Mutation SNP A A G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 13 86370547 86370547 A G SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known missense c.97 p.S33P 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 233 0 0.00 193 61 24.02 - - - SORBS1 0 genome.wustl.edu 37 10 97141537 97141537 + Missense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 10 97141537 97141537 C T SNP SORBS1 ENST00000361941 human ensembl 69_37n -1 known missense c.1558 p.D520N 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 138 0 0.00 158 55 25.82 - - - SP7 0 genome.wustl.edu 37 12 53722555 53722555 + Missense_Mutation SNP A A G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 53722555 53722555 A G SNP SP7 ENST00000303846 human ensembl 69_37n -1 known missense c.671 p.L224S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC ENSG00000170374 37 0 0.00 34 9 20.93 - - - SPOCD1 0 genome.wustl.edu 37 1 32279706 32279706 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 1 32279706 32279706 G A SNP SPOCD1 ENST00000360482 human ensembl 69_37n -1 known missense c.1229 p.S410L 0.314 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 27 0 0.00 27 13 32.50 - - - SYNE1 0 genome.wustl.edu 37 6 152763222 152763222 + Silent SNP T T C TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 6 152763222 152763222 T C SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.3996 p.E1332 0.933 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 89 0 0.00 63 23 26.74 - - - TAS2R60 0 genome.wustl.edu 37 7 143141397 143141397 + Silent SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 7 143141397 143141397 G A SNP TAS2R60 ENST00000332690 human ensembl 69_37n +1 known silent c.852 p.V284 0.023 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 427 0 0.00 365 215 36.94 - - - TCHHL1 0 genome.wustl.edu 37 1 152058657 152058657 + Missense_Mutation SNP C C A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 1 152058657 152058657 C A SNP TCHHL1 ENST00000368806 human ensembl 69_37n -1 known missense c.1501 p.D501Y 0.010 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 657 1 0.15 550 169 23.47 - - - TRABD2A 0 genome.wustl.edu 37 2 85051165 85051165 + Missense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 2 85051165 85051165 C T SNP TRABD2A ENST00000409520 human ensembl 69_37n -1 known missense c.1246 p.E416K 0.000 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 35 0 0.00 16 6 27.27 - - - TRAFD1 0 genome.wustl.edu 37 12 112580087 112580087 + Missense_Mutation SNP A A T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 112580087 112580087 A T SNP TRAFD1 ENST00000257604 human ensembl 69_37n +1 known missense c.838 p.S280C 0.000 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 90 0 0.00 108 32 22.86 - - - TXLNG 0 genome.wustl.edu 37 X 16859739 16859739 + Silent SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 X 16859739 16859739 C T SNP TXLNG ENST00000380122 human ensembl 69_37n +1 known silent c.1437 p.P479 0.000 NULL pfam_Taxilin - no_errors TXLNG HGNC ENSG00000086712 131 0 0.00 60 50 45.45 - - - UACA 0 genome.wustl.edu 37 15 70971994 70971994 + Missense_Mutation SNP C C A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 15 70971994 70971994 C A SNP UACA ENST00000322954 human ensembl 69_37n -1 known missense c.844 p.D282Y 0.997 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 79 0 0.00 54 17 23.94 - - - UNC13B 0 genome.wustl.edu 37 9 35403592 35403592 + Missense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 9 35403592 35403592 C T SNP UNC13B ENST00000396787 human ensembl 69_37n +1 known missense c.4579 p.H1527Y 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 87 0 0.00 27 9 25.00 - - - USP5 0 genome.wustl.edu 37 12 6971685 6971685 + Missense_Mutation SNP G G T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 12 6971685 6971685 G T SNP USP5 ENST00000229268 human ensembl 69_37n +1 known missense c.1725 p.K575N 1.000 pfam_Peptidase_C19,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP5 HGNC ENSG00000111667 123 0 0.00 84 22 20.75 - - - VPS13A 0 genome.wustl.edu 37 9 79955428 79955428 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 9 79955428 79955428 G A SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.6988 p.E2330K 1.000 pfam_VPSAP pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 291 0 0.00 225 33 12.74 - - - ZNF25 0 genome.wustl.edu 37 10 38241444 38241444 + Missense_Mutation SNP C C G TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 10 38241444 38241444 C G SNP ZNF25 ENST00000302609 human ensembl 69_37n -1 known missense c.982 p.A328P 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF25 HGNC ENSG00000175395 131 0 0.00 199 100 33.33 - - - ZNF554 0 genome.wustl.edu 37 19 2834359 2834359 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 83bee702-eb97-4216-a47e-d4e4eece279a cf1209cc-b0f9-40d1-9f55-f04a74981a96 19 2834359 2834359 G A SNP ZNF554 ENST00000317243 human ensembl 69_37n +1 known missense c.1126 p.G376R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF554 HGNC ENSG00000172006 50 0 0.00 63 9 12.50 - - -