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 ADD3 0 genome.wustl.edu 37 10 111860581 111860581 + Missense_Mutation SNP G G A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 10 111860581 111860581 G A SNP ADD3 ENST00000356080 human ensembl 69_37n +1 known missense c.170 p.R57Q 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 102 0 0.00 48 17 26.15 - - - AKAP4 0 genome.wustl.edu 37 X 49957446 49957446 + Missense_Mutation SNP C C G TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 X 49957446 49957446 C G SNP AKAP4 ENST00000358526 human ensembl 69_37n -1 known missense c.1918 p.E640Q 0.170 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 510 0 0.00 448 62 12.16 - - - AMOTL2 0 genome.wustl.edu 37 3 134089691 134089692 + Frame_Shift_Ins INS - - G TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 3 134089691 134089692 - G INS AMOTL2 ENST00000249883 human ensembl 69_37n -1 known frame_shift_ins c.585_584 p.L196fs 0.000:0.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 22 0 0.00 16 2 11.11 - - - AOX1 0 genome.wustl.edu 37 2 201478612 201478612 + Missense_Mutation SNP G G C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 2 201478612 201478612 G C SNP AOX1 ENST00000374700 human ensembl 69_37n +1 known missense c.1534 p.V512L 0.999 pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 147 0 0.00 115 27 19.01 - - - AQP12B 0 genome.wustl.edu 37 2 241621869 241621869 + Missense_Mutation SNP G G A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 2 241621869 241621869 G A SNP AQP12B ENST00000407834 human ensembl 69_37n -1 known missense c.386 p.T129M 0.017 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 13 0 0.00 10 8 44.44 - - - BAZ1B 0 genome.wustl.edu 37 7 72892315 72892315 + Missense_Mutation SNP C C A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 7 72892315 72892315 C A SNP BAZ1B ENST00000339594 human ensembl 69_37n -1 known missense c.1476 p.R492S 1.000 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 204 0 0.00 156 61 27.98 - - - BRPF1 0 genome.wustl.edu 37 3 9786077 9786078 + Frame_Shift_Ins INS - - C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 3 9786077 9786078 - C INS BRPF1 ENST00000383829 human ensembl 69_37n +1 known frame_shift_ins c.2805_2806 p.Q937fs 1.000:1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,prints_Bromodomain,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 34 0 0.00 30 4 11.76 - - - CEP290 0 genome.wustl.edu 37 12 88514773 88514773 + Splice_Site SNP C C A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 12 88514773 88514773 C A SNP CEP290 ENST00000309041 human ensembl 69_37n -1 known splice_site c.1359+1 e13+1 1.000 - - - no_errors CEP290 HGNC ENSG00000198707 120 0 0.00 59 12 16.90 - - - CITED1 0 genome.wustl.edu 37 X 71521748 71521748 + Missense_Mutation SNP A A G TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 X 71521748 71521748 A G SNP CITED1 ENST00000431381 human ensembl 69_37n -1 known missense c.485 p.L162P 0.000 pfam_CITED pfam_CITED - no_errors CITED1 HGNC ENSG00000125931 50 0 0.00 18 10 35.71 - - - COL22A1 0 genome.wustl.edu 37 8 139675984 139675984 + Splice_Site SNP C C A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 8 139675984 139675984 C A SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known splice_site c.3151-1 e41-1 0.973 - - - no_errors COL22A1 HGNC ENSG00000169436 85 0 0.00 138 46 25.00 - - - COL4A5 0 genome.wustl.edu 37 X 107829952 107829952 + Silent SNP T T C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 X 107829952 107829952 T C SNP COL4A5 ENST00000328300 human ensembl 69_37n +1 known silent c.1140 p.G380 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 506 0 0.00 466 97 17.20 - - - EPAS1 0 genome.wustl.edu 37 2 46588075 46588075 + Missense_Mutation SNP A A G TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 2 46588075 46588075 A G SNP EPAS1 ENST00000263734 human ensembl 69_37n +1 known missense c.625 p.N209D 0.678 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 92 0 0.00 53 22 29.33 - - - FAM47B 0 genome.wustl.edu 37 X 34961802 34961802 + Missense_Mutation SNP C C T TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 X 34961802 34961802 C T SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known missense c.854 p.P285L 0.874 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 218 0 0.00 217 136 38.42 - - - FREM2 0 genome.wustl.edu 37 13 39450219 39450219 + Missense_Mutation SNP G G A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 13 39450219 39450219 G A SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known missense c.8342 p.R2781H 0.995 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 280 0 0.00 459 97 17.41 - - - LHX9 0 genome.wustl.edu 37 1 197890729 197890729 + Missense_Mutation SNP G G A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 1 197890729 197890729 G A SNP LHX9 ENST00000367387 human ensembl 69_37n +1 known missense c.673 p.G225R 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX9 HGNC ENSG00000143355 22 0 0.00 26 8 23.53 - - - MADCAM1 0 genome.wustl.edu 37 19 501725 501725 + Missense_Mutation SNP G G A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 19 501725 501725 G A SNP MADCAM1 ENST00000215637 human ensembl 69_37n +1 known missense c.724 p.D242N 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like - no_errors MADCAM1 HGNC ENSG00000099866 10 0 0.00 1 4 80.00 - - - MADD 0 genome.wustl.edu 37 11 47304168 47304168 + Splice_Site SNP G G T TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 11 47304168 47304168 G T SNP MADD ENST00000311027 human ensembl 69_37n +1 known splice_site c.1705+1 e8+1 1.000 - - - no_errors MADD HGNC ENSG00000110514 99 0 0.00 74 31 29.52 - - - MAP3K1 0 genome.wustl.edu 37 5 56170931 56170932 + Frame_Shift_Ins INS - - T TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 5 56170931 56170932 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.1759_1760 p.S588fs 1.000:1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 271 0 0.00 95 82 46.33 - - - NEFH 0 genome.wustl.edu 37 22 29879515 29879515 + Frame_Shift_Del DEL G G - TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 22 29879515 29879515 G - DEL NEFH ENST00000310624 human ensembl 69_37n +1 known frame_shift_del c.1035 p.Q345fs 1.000 pfam_F pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 66 0 0.00 26 12 31.58 - - - NEFH 0 genome.wustl.edu 37 22 29879522 29879522 + Frame_Shift_Del DEL G G - TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 22 29879522 29879522 G - DEL NEFH ENST00000310624 human ensembl 69_37n +1 known frame_shift_del c.1042 p.E348fs 1.000 pfam_F pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 65 0 0.00 26 12 31.58 - - - OR14C36 0 genome.wustl.edu 37 1 248512969 248512969 + Missense_Mutation SNP C C T TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 1 248512969 248512969 C T SNP OR14C36 ENST00000317861 human ensembl 69_37n +1 known missense c.893 p.A298V 0.089 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR14C36 HGNC ENSG00000177174 238 1 0.42 90 77 46.11 - - - PODXL2 0 genome.wustl.edu 37 3 127358204 127358205 + Frame_Shift_Ins INS - - C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 3 127358204 127358205 - C INS PODXL2 ENST00000342480 human ensembl 69_37n +1 known frame_shift_ins c.187_188 p.E63fs 1.000:1.000 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 80 0 0.00 111 50 31.06 - - - RAD17 0 genome.wustl.edu 37 5 68692264 68692264 + Missense_Mutation SNP C C T TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 5 68692264 68692264 C T SNP RAD17 ENST00000380774 human ensembl 69_37n +1 known missense c.1496 p.T499M 0.996 tigrfam_Checkpoint_prot_Rad24_fun/met tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 86 0 0.00 51 16 23.88 - - - RYR3 0 genome.wustl.edu 37 15 33927942 33927942 + Silent SNP C C T TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 15 33927942 33927942 C T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.3303 p.V1101 0.003 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 44 0 0.00 36 7 16.28 - - - SCAPER 0 genome.wustl.edu 37 15 77025641 77025641 + Missense_Mutation SNP T T C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 15 77025641 77025641 T C SNP SCAPER ENST00000324767 human ensembl 69_37n -1 known missense c.1951 p.R651G 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 40 0 0.00 32 6 15.79 - - - SLC6A7 0 genome.wustl.edu 37 5 149574323 149574323 + Frame_Shift_Del DEL T T - TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 5 149574323 149574323 T - DEL SLC6A7 ENST00000230671 human ensembl 69_37n +1 known frame_shift_del c.66 p.S22fs 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 26 0 0.00 10 5 33.33 - - - SLC6A7 0 genome.wustl.edu 37 5 149574326 149574327 + Frame_Shift_Del DEL CC CC - TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 5 149574326 149574327 CC - DEL SLC6A7 ENST00000230671 human ensembl 69_37n +1 known frame_shift_del c.69_70 p.D23fs 1.000:1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 25 0 0.00 10 5 33.33 - - - SMARCD3 0 genome.wustl.edu 37 7 150936239 150936239 + Frame_Shift_Del DEL G G - TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 7 150936239 150936239 G - DEL SMARCD3 ENST00000262188 human ensembl 69_37n -1 known frame_shift_del c.1402 p.Q468fs 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 61 0 0.00 15 2 11.76 - - - SRPK3 0 genome.wustl.edu 37 X 153050911 153050911 + Missense_Mutation SNP A A G TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 X 153050911 153050911 A G SNP SRPK3 ENST00000370101 human ensembl 69_37n +1 known missense c.1640 p.E547G 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK3 HGNC ENSG00000184343 13 0 0.00 5 17 77.27 - - - SRPK3 0 genome.wustl.edu 37 X 153050912 153050912 + Missense_Mutation SNP G G C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 X 153050912 153050912 G C SNP SRPK3 ENST00000370101 human ensembl 69_37n +1 known missense c.1641 p.E547D 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK3 HGNC ENSG00000184343 14 0 0.00 4 13 68.42 - - - TAF1 0 genome.wustl.edu 37 X 70627430 70627430 + Missense_Mutation SNP C C T TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 X 70627430 70627430 C T SNP TAF1 ENST00000449580 human ensembl 69_37n +1 known missense c.4111 p.H1371Y 1.000 pirsf_TAF1_animal,superfamily_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 220 0 0.00 139 26 15.76 - - - TBC1D10A 0 genome.wustl.edu 37 22 30691731 30691732 + Frame_Shift_Ins INS - - C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 22 30691731 30691732 - C INS TBC1D10A ENST00000215790 human ensembl 69_37n -1 known frame_shift_ins c.519_518 p.H174fs 0.998:1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 26 0 0.00 9 2 18.18 - - - TEAD2 0 genome.wustl.edu 37 19 49850509 49850509 + Missense_Mutation SNP C C T TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 19 49850509 49850509 C T SNP TEAD2 ENST00000377214 human ensembl 69_37n -1 known missense c.856 p.G286S 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 128 0 0.00 58 21 26.58 - - - TGFA 0 genome.wustl.edu 37 2 70742012 70742012 + Missense_Mutation SNP T T C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 2 70742012 70742012 T C SNP TGFA ENST00000295400 human ensembl 69_37n -1 known missense c.73 p.N25D 1.000 NULL pfscan_EG-like_dom - no_errors TGFA HGNC ENSG00000163235 26 0 0.00 14 5 26.32 - - - TIMELESS 0 genome.wustl.edu 37 12 56815795 56815795 + Missense_Mutation SNP C C A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 12 56815795 56815795 C A SNP TIMELESS ENST00000553532 human ensembl 69_37n -1 known missense c.2530 p.D844Y 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 248 0 0.00 299 45 13.08 - - - TMEM44 0 genome.wustl.edu 37 3 194331653 194331653 + Missense_Mutation SNP C C G TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 3 194331653 194331653 C G SNP TMEM44 ENST00000392432 human ensembl 69_37n -1 known missense c.1150 p.V384L 0.721 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 53 0 0.00 56 13 18.84 - - - TP53 0 genome.wustl.edu 37 17 7579356 7579358 + In_Frame_Del DEL GAC GAC - TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 17 7579356 7579358 GAC - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known in_frame_del c.331_329 p.R110in_frame_del 0.011:0.000:0.004 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 236 0 0.00 126 107 45.53 - - - TRIOBP 0 genome.wustl.edu 37 22 38121788 38121789 + Frame_Shift_Ins INS - - C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 22 38121788 38121789 - C INS TRIOBP ENST00000406386 human ensembl 69_37n +1 known frame_shift_ins c.3225_3226 p.R1077fs 0.986:0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 18 0 0.00 21 4 16.00 - - - TTN 0 genome.wustl.edu 37 2 179455719 179455719 + Nonsense_Mutation SNP G G A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 2 179455719 179455719 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known nonsense c.53029 p.R17677* 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 233 0 0.00 192 40 17.24 - - - WRNIP1 0 genome.wustl.edu 37 6 2785330 2785330 + Silent SNP G G A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 6 2785330 2785330 G A SNP WRNIP1 ENST00000380773 human ensembl 69_37n +1 known silent c.1812 p.L604 1.000 pfam_MgsA_C pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 86 0 0.00 66 35 34.65 - - - XYLT2 0 genome.wustl.edu 37 17 48431826 48431827 + Frame_Shift_Ins INS - - C TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 17 48431826 48431827 - C INS XYLT2 ENST00000017003 human ensembl 69_37n +1 known frame_shift_ins c.686_687 p.V232fs 0.998:0.995 NULL pfam_XylT_met,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 39 0 0.00 8 2 20.00 - - - ZNF711 0 genome.wustl.edu 37 X 84525072 84525072 + Missense_Mutation SNP G G A TCGA-AN-A0AS-01A-11W-A019-09 TCGA-AN-A0AS-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2257c942-1274-47e7-86ad-b92ecfafc205 0ec33f45-45dc-4fd6-b1c9-0312bff04da4 X 84525072 84525072 G A SNP ZNF711 ENST00000395402 human ensembl 69_37n +1 known missense c.1052 p.C351Y 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 179 0 0.00 155 28 15.30 - - -