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 ACTR5 0 genome.wustl.edu 37 20 37380924 37380924 + Silent SNP C C A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 20 37380924 37380924 C A SNP ACTR5 ENST00000243903 human ensembl 69_37n +1 known silent c.756 p.I252 0.010 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR5 HGNC ENSG00000101442 62 0 0.00 50 7 12.28 - - - ANKRD44 0 genome.wustl.edu 37 2 197865158 197865158 + Missense_Mutation SNP C C G TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 2 197865158 197865158 C G SNP ANKRD44 ENST00000328737 human ensembl 69_37n -1 known missense c.2429 p.R810T 0.486 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 104 0 0.00 69 20 22.47 - - - APOBR 0 genome.wustl.edu 37 16 28507082 28507082 + Silent SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 16 28507082 28507082 G C SNP APOBR ENST00000564831 human ensembl 69_37n +1 known silent c.720 p.G240 0.003 NULL NULL - no_errors APOBR HGNC ENSG00000184730 57 0 0.00 52 16 23.53 - - - ATR 0 genome.wustl.edu 37 3 142274964 142274964 + Missense_Mutation SNP T T A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 3 142274964 142274964 T A SNP ATR ENST00000350721 human ensembl 69_37n -1 known missense c.2096 p.D699V 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 67 0 0.00 54 12 18.18 - - - BACH2 0 genome.wustl.edu 37 6 90660867 90660867 + Missense_Mutation SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 6 90660867 90660867 G A SNP BACH2 ENST00000257749 human ensembl 69_37n -1 known missense c.958 p.P320S 0.273 NULL pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 15 0 0.00 9 4 30.77 - - - BAG4 0 genome.wustl.edu 37 8 38067546 38067546 + Silent SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 8 38067546 38067546 C T SNP BAG4 ENST00000287322 human ensembl 69_37n +1 known silent c.909 p.S303 0.377 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 35 0 0.00 24 10 29.41 - - - BTBD11 0 genome.wustl.edu 37 12 108012010 108012010 + Silent SNP C C A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 12 108012010 108012010 C A SNP BTBD11 ENST00000280758 human ensembl 69_37n +1 known silent c.2307 p.A769 0.892 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 24 0 0.00 20 8 28.57 - - - C16orf53 0 genome.wustl.edu 37 16 29828128 29828128 + Missense_Mutation SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 16 29828128 29828128 G C SNP C16orf53 ENST00000320330 human ensembl 69_37n +1 known missense c.282 p.E94D 1.000 NULL NULL - no_errors C16orf53 HGNC ENSG00000185928 8 0 0.00 6 4 40.00 - - - CA14 0 genome.wustl.edu 37 1 150230552 150230552 + Missense_Mutation SNP T T A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 1 150230552 150230552 T A SNP CA14 ENST00000369111 human ensembl 69_37n +1 known missense c.29 p.V10E 1.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 218 0 0.00 150 33 17.93 - - - CPNE1 0 genome.wustl.edu 37 20 34218833 34218833 + Missense_Mutation SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 20 34218833 34218833 C T SNP CPNE1 ENST00000317677 human ensembl 69_37n -1 known missense c.1000 p.D334N 1.000 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE1 HGNC ENSG00000214078 86 0 0.00 80 9 10.11 - - - CTNNAL1 0 genome.wustl.edu 37 9 111775599 111775599 + Missense_Mutation SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 9 111775599 111775599 G C SNP CTNNAL1 ENST00000325551 human ensembl 69_37n -1 known missense c.124 p.L42V 0.567 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 14 0 0.00 16 5 23.81 - - - CUL4B 0 genome.wustl.edu 37 X 119673224 119673224 + Missense_Mutation SNP T T A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b X 119673224 119673224 T A SNP CUL4B ENST00000404115 human ensembl 69_37n -1 known missense c.1694 p.K565M 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 181 0 0.00 121 18 12.95 - - - DNAH12 0 genome.wustl.edu 37 3 57394164 57394164 + Missense_Mutation SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 3 57394164 57394164 C T SNP DNAH12 ENST00000351747 human ensembl 69_37n -1 known missense c.6062 p.R2021H 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 44 0 0.00 41 5 10.87 - - - DOCK11 0 genome.wustl.edu 37 X 117743298 117743298 + Missense_Mutation SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b X 117743298 117743298 G C SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known missense c.2935 p.E979Q 1.000 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 46 0 0.00 42 5 10.64 - - - DOCK11 0 genome.wustl.edu 37 X 117788579 117788579 + Silent SNP C C A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b X 117788579 117788579 C A SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known silent c.4710 p.P1570 0.566 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 47 0 0.00 28 9 24.32 - - - DOCK11 0 genome.wustl.edu 37 X 117788580 117788580 + Missense_Mutation SNP G G T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b X 117788580 117788580 G T SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known missense c.4711 p.A1571S 0.580 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 47 0 0.00 28 9 24.32 - - - EEA1 0 genome.wustl.edu 37 12 93221730 93221732 + In_Frame_Del DEL TTG TTG - TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 12 93221730 93221732 TTG - DEL EEA1 ENST00000322349 human ensembl 69_37n -1 known in_frame_del c.1362_1360 p.Q454in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 113 0 0.00 98 12 10.71 - - - EIF5B 0 genome.wustl.edu 37 2 100007074 100007074 + Missense_Mutation SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 2 100007074 100007074 G C SNP EIF5B ENST00000289371 human ensembl 69_37n +1 known missense c.2654 p.G885A 1.000 pfam_Transl_elong_EFTu/EF1A_2 pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 86 0 0.00 69 24 25.81 - - - ENSG00000258852 0 genome.wustl.edu 37 17 26691976 26691976 + Missense_Mutation SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 17 26691976 26691976 G A SNP ENSG00000258852 ENST00000555059 human ensembl 69_37n -1 putative missense c.331 p.R111W 0.008 superfamily_Hemopexin/matrixin pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin - no_start_codon CTB-96E2.2 Clone_based_vega_gene ENSG00000258852 33 0 0.00 33 5 13.16 - - - EPHA1 0 genome.wustl.edu 37 7 143091403 143091403 + Missense_Mutation SNP C C G TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 7 143091403 143091403 C G SNP EPHA1 ENST00000275815 human ensembl 69_37n -1 known missense c.2386 p.E796Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA1 HGNC ENSG00000146904 78 0 0.00 56 14 20.00 - - - FLRT3 0 genome.wustl.edu 37 20 14307453 14307453 + Missense_Mutation SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 20 14307453 14307453 G A SNP FLRT3 ENST00000341420 human ensembl 69_37n -1 known missense c.700 p.R234W 0.948 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 14 0 0.00 10 8 44.44 - - - FMNL2 0 genome.wustl.edu 37 2 153435429 153435429 + Missense_Mutation SNP C C G TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 2 153435429 153435429 C G SNP FMNL2 ENST00000288670 human ensembl 69_37n +1 known missense c.733 p.P245A 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 76 0 0.00 47 15 24.19 - - - FSTL4 0 genome.wustl.edu 37 5 132652191 132652191 + Missense_Mutation SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 5 132652191 132652191 G C SNP FSTL4 ENST00000265342 human ensembl 69_37n -1 known missense c.563 p.A188G 0.000 pfscan_EF_HAND_2 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL4 HGNC ENSG00000053108 40 0 0.00 40 15 27.27 - - - GH1 0 genome.wustl.edu 37 17 61994783 61994783 + Silent SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 17 61994783 61994783 G A SNP GH1 ENST00000323322 human ensembl 69_37n -1 known silent c.540 p.D180 0.648 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH1 HGNC ENSG00000259384 286 0 0.00 167 90 35.02 - - - GPRASP1 0 genome.wustl.edu 37 X 101910990 101910990 + Missense_Mutation SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b X 101910990 101910990 G A SNP GPRASP1 ENST00000361600 human ensembl 69_37n +1 known missense c.2149 p.E717K 0.035 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 61 0 0.00 52 6 10.34 - - - HRNR 0 genome.wustl.edu 37 1 152192919 152192919 + Nonsense_Mutation SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 1 152192919 152192919 G A SNP HRNR ENST00000368801 human ensembl 69_37n -1 known nonsense c.1186 p.Q396* 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 133 0 0.00 106 24 18.46 - - - KIAA0947 0 genome.wustl.edu 37 5 5464537 5464537 + Missense_Mutation SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 5 5464537 5464537 C T SNP KIAA0947 ENST00000296564 human ensembl 69_37n +1 known missense c.5090 p.S1697F 0.053 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 39 0 0.00 33 4 10.81 - - - KSR2 0 genome.wustl.edu 37 12 117977596 117977596 + Missense_Mutation SNP T T C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 12 117977596 117977596 T C SNP KSR2 ENST00000339824 human ensembl 69_37n -1 known missense c.1615 p.S539G 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 202 0 0.00 114 41 26.45 - - - MCC 0 genome.wustl.edu 37 5 112824046 112824048 + In_Frame_Del DEL GCT GCT - TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 5 112824046 112824048 GCT - DEL MCC ENST00000408903 human ensembl 69_37n -1 putative in_frame_del c.66_64 p.S22in_frame_del 0.733:0.827:0.854 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MCC HGNC ENSG00000171444 14 0 0.00 4 2 33.33 - - - NDUFV3 0 genome.wustl.edu 37 21 44323603 44323603 + Missense_Mutation SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 21 44323603 44323603 G A SNP NDUFV3 ENST00000354250 human ensembl 69_37n +1 known missense c.481 p.D161N 0.802 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 37 0 0.00 24 6 20.00 - - - NOS1 0 genome.wustl.edu 37 12 117696222 117696222 + Missense_Mutation SNP G G T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 12 117696222 117696222 G T SNP NOS1 ENST00000317775 human ensembl 69_37n -1 known missense c.2511 p.N837K 1.000 pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 87 0 0.00 65 12 15.58 - - - OPTN 0 genome.wustl.edu 37 10 13174129 13174129 + Silent SNP A A G TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 10 13174129 13174129 A G SNP OPTN ENST00000263036 human ensembl 69_37n +1 known silent c.1464 p.E488 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 106 0 0.00 110 18 14.06 - - - OTOL1 0 genome.wustl.edu 37 3 161221388 161221388 + Missense_Mutation SNP G G T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 3 161221388 161221388 G T SNP OTOL1 ENST00000327928 human ensembl 69_37n +1 known missense c.1092 p.K364N 0.976 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors OTOL1 HGNC ENSG00000182447 57 0 0.00 54 9 14.06 - - - PARP6 0 genome.wustl.edu 37 15 72546845 72546845 + Missense_Mutation SNP C C G TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 15 72546845 72546845 C G SNP PARP6 ENST00000287196 human ensembl 69_37n -1 known missense c.1142 p.R381P 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 95 0 0.00 63 20 24.10 - - - PICALM 0 genome.wustl.edu 37 11 85722144 85722144 + Nonsense_Mutation SNP C C A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 11 85722144 85722144 C A SNP PICALM ENST00000393346 human ensembl 69_37n -1 known nonsense c.694 p.E232* 1.000 pfam_ANTH pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC ENSG00000073921 151 0 0.00 99 13 11.61 - - - PIK3CD 0 genome.wustl.edu 37 1 9781585 9781585 + Missense_Mutation SNP T T C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 1 9781585 9781585 T C SNP PIK3CD ENST00000536656 human ensembl 69_37n +1 known missense c.1967 p.F656S 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 56 0 0.00 32 8 20.00 - - - PLEKHA5 0 genome.wustl.edu 37 12 19460407 19460408 + RNA INS - - A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 12 19460407 19460408 - A INS PLEKHA5 ENST00000510738 human ensembl 69_37n +1 known rna NULL NULL 0.923:0.931 - - - no_errors PLEKHA5 HGNC ENSG00000052126 19 0 0.00 9 3 25.00 - - - PLP1 0 genome.wustl.edu 37 X 103044308 103044308 + Missense_Mutation SNP C C A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b X 103044308 103044308 C A SNP PLP1 ENST00000303958 human ensembl 69_37n +1 known missense c.743 p.A248E 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors PLP1 HGNC ENSG00000123560 270 0 0.00 189 24 11.27 - - - POLR2J3 0 genome.wustl.edu 37 7 102182021 102182021 + Missense_Mutation SNP C C A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 7 102182021 102182021 C A SNP POLR2J3 ENST00000379357 human ensembl 69_37n -1 known missense c.201 p.Q67H 1.000 NULL NULL - no_errors POLR2J3 HGNC ENSG00000168255 17 0 0.00 18 7 28.00 - - - POM121C 0 genome.wustl.edu 37 7 75050891 75050891 + Missense_Mutation SNP T T C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 7 75050891 75050891 T C SNP POM121C ENST00000257665 human ensembl 69_37n -1 known missense c.3370 p.T1124A 0.001 NULL NULL - no_errors POM121C HGNC ENSG00000135213 34 0 0.00 26 4 13.33 - - - PQBP1 0 genome.wustl.edu 37 X 48759291 48759291 + Missense_Mutation SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b X 48759291 48759291 G C SNP PQBP1 ENST00000456306 human ensembl 69_37n +1 known missense c.230 p.R77P 0.999 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PQBP1 HGNC ENSG00000102103 66 0 0.00 59 14 18.92 - - - PRTG 0 genome.wustl.edu 37 15 55912380 55912380 + Missense_Mutation SNP G G T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 15 55912380 55912380 G T SNP PRTG ENST00000389286 human ensembl 69_37n -1 known missense c.3283 p.P1095T 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 79 0 0.00 50 11 18.03 - - - PTPRK 0 genome.wustl.edu 37 6 128404925 128404925 + Nonsense_Mutation SNP C C A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 6 128404925 128404925 C A SNP PTPRK ENST00000368227 human ensembl 69_37n -1 known nonsense c.1510 p.E504* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 100 0 0.00 81 9 10.00 - - - PXK 0 genome.wustl.edu 37 3 58368396 58368396 + Missense_Mutation SNP A A C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 3 58368396 58368396 A C SNP PXK ENST00000356151 human ensembl 69_37n +1 known missense c.357 p.L119F 0.999 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox,pfscan_Prot_kinase_cat_dom pfam_Phox,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_cat_dom - no_errors PXK HGNC ENSG00000168297 61 0 0.00 44 12 21.43 - - - RD3 0 genome.wustl.edu 37 1 211652657 211652657 + Silent SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 1 211652657 211652657 C T SNP RD3 ENST00000367002 human ensembl 69_37n -1 known silent c.309 p.L103 0.207 NULL NULL - no_errors RD3 HGNC ENSG00000198570 20 0 0.00 18 4 18.18 - - - RNF111 0 genome.wustl.edu 37 15 59323149 59323149 + Missense_Mutation SNP T T A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 15 59323149 59323149 T A SNP RNF111 ENST00000434298 human ensembl 69_37n +1 known missense c.128 p.I43N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 69 0 0.00 47 12 20.34 - - - RNF20 0 genome.wustl.edu 37 9 104315014 104315014 + Missense_Mutation SNP A A G TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 9 104315014 104315014 A G SNP RNF20 ENST00000389120 human ensembl 69_37n +1 known missense c.1880 p.K627R 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 40 0 0.00 27 14 34.15 - - - RPGR 0 genome.wustl.edu 37 X 38145826 38145826 + Missense_Mutation SNP T T C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b X 38145826 38145826 T C SNP RPGR ENST00000378505 human ensembl 69_37n -1 known missense c.2426 p.E809G 0.349 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 225 1 0.44 288 39 11.93 - - - SCAF11 0 genome.wustl.edu 37 12 46320764 46320764 + Missense_Mutation SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 12 46320764 46320764 G A SNP SCAF11 ENST00000369367 human ensembl 69_37n -1 known missense c.2720 p.S907F 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 44 0 0.00 47 16 25.40 - - - SMAD1 0 genome.wustl.edu 37 4 146467997 146467997 + Missense_Mutation SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 4 146467997 146467997 G C SNP SMAD1 ENST00000302085 human ensembl 69_37n +1 known missense c.918 p.K306N 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 69 0 0.00 64 11 14.67 - - - TAF6 0 genome.wustl.edu 37 7 99711749 99711749 + Silent SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 7 99711749 99711749 G A SNP TAF6 ENST00000344095 human ensembl 69_37n -1 known silent c.84 p.I28 0.965 pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_TAF_TATA-bd pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 87 0 0.00 51 10 16.39 - - - TAT 0 genome.wustl.edu 37 16 71610261 71610261 + Missense_Mutation SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 16 71610261 71610261 C T SNP TAT ENST00000355962 human ensembl 69_37n -1 known missense c.58 p.V20M 0.373 pfam_Tyr_aminoTrfase_ubiquitination,pirsf_Tyrosine_transaminase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,prints_ACC_synthase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 139 0 0.00 85 18 17.48 - - - TBC1D13 0 genome.wustl.edu 37 9 131568232 131568232 + Missense_Mutation SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 9 131568232 131568232 G C SNP TBC1D13 ENST00000372648 human ensembl 69_37n +1 known missense c.1013 p.W338S 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 TBC1D13 HGNC ENSG00000107021 46 0 0.00 39 11 22.00 - - - TBC1D2 0 genome.wustl.edu 37 9 101006381 101006381 + Missense_Mutation SNP A A T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 9 101006381 101006381 A T SNP TBC1D2 ENST00000375066 human ensembl 69_37n -1 known missense c.542 p.L181Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 38 0 0.00 17 10 37.04 - - - TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T G TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 17 7578190 7578190 T G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.659 p.Y220S 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 162 1 0.61 91 13 12.50 - - - TP53 0 genome.wustl.edu 37 17 7579414 7579414 + Nonsense_Mutation SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 17 7579414 7579414 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.273 p.W91* 1.000 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 ENSG00000141510 35 0 0.00 26 10 27.78 - - - TPM2 0 genome.wustl.edu 37 9 35689719 35689719 + Silent SNP A A G TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 9 35689719 35689719 A G SNP TPM2 ENST00000378300 human ensembl 69_37n -1 known silent c.96 p.A32 0.910 NULL pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC ENSG00000198467 100 0 0.00 67 16 19.28 - - - TRAF6 0 genome.wustl.edu 37 11 36518707 36518707 + Missense_Mutation SNP T T C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 11 36518707 36518707 T C SNP TRAF6 ENST00000348124 human ensembl 69_37n -1 known missense c.557 p.Q186R 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 77 0 0.00 61 31 33.70 - - - TRPV2 0 genome.wustl.edu 37 17 16326827 16326827 + Missense_Mutation SNP G G A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 17 16326827 16326827 G A SNP TRPV2 ENST00000338560 human ensembl 69_37n +1 known missense c.670 p.V224M 0.978 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 38 0 0.00 18 4 18.18 - - - WDR87 0 genome.wustl.edu 37 19 38380815 38380815 + Missense_Mutation SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 19 38380815 38380815 C T SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.3496 p.A1166T 0.037 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 72 0 0.00 45 14 23.73 - - - WNK3 0 genome.wustl.edu 37 X 54259337 54259337 + Missense_Mutation SNP G G C TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b X 54259337 54259337 G C SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known missense c.4745 p.P1582R 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 145 0 0.00 132 23 14.84 - - - XIRP2 0 genome.wustl.edu 37 2 168101752 168101752 + Missense_Mutation SNP T T A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 2 168101752 168101752 T A SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.3850 p.L1284I 0.998 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 69 0 0.00 45 13 22.41 - - - ZFAND1 0 genome.wustl.edu 37 8 82626198 82626198 + Silent SNP C C T TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6bb16c6-cb0f-44c6-93e7-6c55d0958f82 a7e3e9d1-e371-4d3d-92cd-7985f276f70b 8 82626198 82626198 C T SNP ZFAND1 ENST00000220669 human ensembl 69_37n -1 known silent c.435 p.L145 0.993 NULL pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 - no_errors ZFAND1 HGNC ENSG00000104231 303 0 0.00 233 32 12.08 - - -