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 ADAMTS2 0 genome.wustl.edu 37 5 178541264 178541264 + Missense_Mutation SNP G G C TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 5 178541264 178541264 G C SNP ADAMTS2 ENST00000251582 human ensembl 69_37n -1 known missense c.3240 p.C1080W 1.000 pfscan_PLAC pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS2 HGNC ENSG00000087116 40 0 0.00 56 31 35.23 - - - ADNP 0 genome.wustl.edu 37 20 49508731 49508731 + Missense_Mutation SNP A A T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 20 49508731 49508731 A T SNP ADNP ENST00000349014 human ensembl 69_37n -1 known missense c.2520 p.F840L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 43 0 0.00 134 17 11.26 - - - ALDH1A1 0 genome.wustl.edu 37 9 75533709 75533709 + Silent SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 9 75533709 75533709 C T SNP ALDH1A1 ENST00000297785 human ensembl 69_37n -1 known silent c.777 p.G259 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 30 0 0.00 47 23 32.86 - - - ARHGAP15 0 genome.wustl.edu 37 2 143973974 143973974 + Missense_Mutation SNP C C G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 2 143973974 143973974 C G SNP ARHGAP15 ENST00000295095 human ensembl 69_37n +1 known missense c.256 p.L86V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 31 0 0.00 84 40 32.26 - - - ASAP3 0 genome.wustl.edu 37 1 23765288 23765288 + Missense_Mutation SNP G G T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 1 23765288 23765288 G T SNP ASAP3 ENST00000336689 human ensembl 69_37n -1 known missense c.1054 p.Q352K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,prints_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 42 0 0.00 67 39 36.79 - - - ATP6V0A1 0 genome.wustl.edu 37 17 40653307 40653307 + Missense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 17 40653307 40653307 G A SNP ATP6V0A1 ENST00000587510 human ensembl 69_37n +1 known missense c.235 p.E79K 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP6V0A1 HGNC ENSG00000033627 114 0 0.00 238 92 27.88 - - - C3orf26 0 genome.wustl.edu 37 3 99886581 99886581 + Splice_Site SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 3 99886581 99886581 G A SNP C3orf26 ENST00000421999 human ensembl 69_37n +1 known splice_site c.416-1 e6-1 1.000 - - - no_errors C3orf26 HGNC ENSG00000184220 86 0 0.00 165 68 29.18 - - - CASR 0 genome.wustl.edu 37 3 122003458 122003458 + Missense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 3 122003458 122003458 G A SNP CASR ENST00000498619 human ensembl 69_37n +1 known missense c.2687 p.R896Q 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 18 0 0.00 28 9 24.32 - - - CBFB 0 genome.wustl.edu 37 16 67070624 67070624 + Missense_Mutation SNP G G T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 16 67070624 67070624 G T SNP CBFB ENST00000290858 human ensembl 69_37n +1 known missense c.248 p.R83L 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 33 0 0.00 44 30 40.54 - - - CCDC88C 0 genome.wustl.edu 37 14 91770321 91770321 + Missense_Mutation SNP A A C TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 14 91770321 91770321 A C SNP CCDC88C ENST00000389857 human ensembl 69_37n -1 known missense c.3359 p.V1120G 1.000 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 28 0 0.00 16 22 57.89 - - - CDH15 0 genome.wustl.edu 37 16 89254603 89254603 + Silent SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 16 89254603 89254603 C T SNP CDH15 ENST00000289746 human ensembl 69_37n +1 known silent c.888 p.A296 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 18 0 0.00 17 11 39.29 - - - COL9A3 0 genome.wustl.edu 37 20 61458599 61458599 + Nonsense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 20 61458599 61458599 C T SNP COL9A3 ENST00000343916 human ensembl 69_37n +1 known nonsense c.799 p.R267* 0.970 NULL pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 33 0 0.00 54 19 25.68 - - - CPS1 0 genome.wustl.edu 37 2 211465381 211465381 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 2 211465381 211465381 C T SNP CPS1 ENST00000430249 human ensembl 69_37n +1 known missense c.1670 p.S557L 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 37 0 0.00 58 32 35.56 - - - DBNDD2 0 genome.wustl.edu 37 20 44037466 44037466 + Frame_Shift_Del DEL G G - TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 20 44037466 44037466 G - DEL DBNDD2 ENST00000372720 human ensembl 69_37n +1 known frame_shift_del c.459 p.E154fs 1.000 pfam_Dysbindin pfam_Dysbindin - no_errors DBNDD2 HGNC ENSG00000244274 24 0 0.00 75 20 20.62 - - - DNAH9 0 genome.wustl.edu 37 17 11726132 11726132 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 17 11726132 11726132 G A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known silent c.9027 p.Q3009 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 60 0 0.00 43 29 40.28 - - - DOLK 0 genome.wustl.edu 37 9 131709581 131709582 + Frame_Shift_Ins INS - - T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 9 131709581 131709582 - T INS DOLK ENST00000372586 human ensembl 69_37n -1 known frame_shift_ins c.2_1 p.M1fs 0.954:0.711 NULL NULL - no_errors DOLK HGNC ENSG00000175283 10 0 0.00 7 4 36.36 - - - DST 0 genome.wustl.edu 37 6 56358848 56358848 + Missense_Mutation SNP T T A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 6 56358848 56358848 T A SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.20261 p.E6754V 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 110 0 0.00 307 41 11.78 - - - EEF2 0 genome.wustl.edu 37 19 3978146 3978146 + Missense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 19 3978146 3978146 G A SNP EEF2 ENST00000309311 human ensembl 69_37n -1 known missense c.1738 p.R580C 0.998 superfamily_Ribosomal_S5_D2-typ_fold pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 21 0 0.00 20 12 37.50 - - - EPOR 0 genome.wustl.edu 37 19 11488689 11488689 + Missense_Mutation SNP G G T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 19 11488689 11488689 G T SNP EPOR ENST00000222139 human ensembl 69_37n -1 known missense c.1498 p.L500M 0.000 pirsf_Erythropoietin_rcpt pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 12 0 0.00 18 13 41.94 - - - EPS15 0 genome.wustl.edu 37 1 51910583 51910583 + Nonsense_Mutation SNP G G C TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 1 51910583 51910583 G C SNP EPS15 ENST00000371733 human ensembl 69_37n -1 known nonsense c.932 p.S311* 1.000 smart_EPS15_homology,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 62 0 0.00 137 16 10.46 - - - ESPL1 0 genome.wustl.edu 37 12 53679978 53679978 + Missense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 12 53679978 53679978 G A SNP ESPL1 ENST00000257934 human ensembl 69_37n +1 known missense c.3458 p.S1153N 1.000 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 33 0 0.00 113 27 19.01 - - - FAM169A 0 genome.wustl.edu 37 5 74096761 74096761 + Silent SNP A A G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 5 74096761 74096761 A G SNP FAM169A ENST00000389156 human ensembl 69_37n -1 known silent c.1047 p.S349 0.636 NULL NULL - no_errors FAM169A HGNC ENSG00000198780 50 0 0.00 90 20 18.18 - - - FBN1 0 genome.wustl.edu 37 15 48796053 48796053 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 15 48796053 48796053 C T SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.2044 p.E682K 0.998 pfam_TB_dom,superfamily_TB_dom,pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 39 0 0.00 84 35 29.17 - - - FDXR 0 genome.wustl.edu 37 17 72863106 72863106 + Nonsense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 17 72863106 72863106 G A SNP FDXR ENST00000442102 human ensembl 69_37n -1 novel nonsense c.199 p.Q67* 0.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors FDXR HGNC ENSG00000161513 13 0 0.00 18 5 20.83 - - - FLT3 0 genome.wustl.edu 37 13 28644705 28644705 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 13 28644705 28644705 G A SNP FLT3 ENST00000380982 human ensembl 69_37n -1 known silent c.88 p.L30 0.965 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 21 0 0.00 50 15 23.08 - - - FMN2 0 genome.wustl.edu 37 1 240370290 240370290 + Silent SNP C C G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 1 240370290 240370290 C G SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known silent c.2178 p.L726 0.364 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 41 0 0.00 43 24 35.82 - - - FOXA1 0 genome.wustl.edu 37 14 38061193 38061193 + Missense_Mutation SNP A A T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 14 38061193 38061193 A T SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.796 p.F266I 1.000 NULL pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 16 0 0.00 14 9 39.13 - - - FOXI1 0 genome.wustl.edu 37 5 169535450 169535450 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 5 169535450 169535450 G A SNP FOXI1 ENST00000306268 human ensembl 69_37n +1 known silent c.972 p.P324 0.002 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 17 0 0.00 21 10 32.26 - - - FXR1 0 genome.wustl.edu 37 3 180685879 180685879 + Missense_Mutation SNP T T G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 3 180685879 180685879 T G SNP FXR1 ENST00000482125 human ensembl 69_37n +1 novel missense c.41 p.L14R 0.935 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FXR1 HGNC ENSG00000114416 50 0 0.00 112 42 27.27 - - - GIMAP8 0 genome.wustl.edu 37 7 150171570 150171570 + Missense_Mutation SNP C C G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 7 150171570 150171570 C G SNP GIMAP8 ENST00000307271 human ensembl 69_37n +1 known missense c.1153 p.L385V 0.990 pfam_AIG1 pfam_AIG1 - no_errors GIMAP8 HGNC ENSG00000171115 20 0 0.00 53 9 14.52 - - - GNL3L 0 genome.wustl.edu 37 X 54577449 54577449 + Missense_Mutation SNP G G T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 X 54577449 54577449 G T SNP GNL3L ENST00000336470 human ensembl 69_37n +1 known missense c.829 p.A277S 1.000 pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 24 0 0.00 67 21 23.86 - - - GREB1 0 genome.wustl.edu 37 2 11727547 11727547 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 2 11727547 11727547 C T SNP GREB1 ENST00000263834 human ensembl 69_37n +1 known missense c.1199 p.P400L 0.066 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 26 0 0.00 77 31 28.70 - - - GYG1 0 genome.wustl.edu 37 3 148714088 148714088 + Splice_Site SNP G G C TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 3 148714088 148714088 G C SNP GYG1 ENST00000345003 human ensembl 69_37n +1 known splice_site c.144-1 e3-1 1.000 - - - no_errors GYG1 HGNC ENSG00000163754 35 0 0.00 60 20 25.00 - - - HABP4 0 genome.wustl.edu 37 9 99252296 99252296 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 9 99252296 99252296 G A SNP HABP4 ENST00000375249 human ensembl 69_37n +1 known silent c.1218 p.P406 0.976 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC ENSG00000130956 63 0 0.00 96 12 11.11 - - - IL1RL2 0 genome.wustl.edu 37 2 102835485 102835485 + Missense_Mutation SNP A A G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 2 102835485 102835485 A G SNP IL1RL2 ENST00000264257 human ensembl 69_37n +1 known missense c.797 p.N266S 0.178 smart_Ig_sub pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt - no_errors IL1RL2 HGNC ENSG00000115598 58 0 0.00 123 43 25.90 - - - IL4R 0 genome.wustl.edu 37 16 27375082 27375082 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 16 27375082 27375082 G A SNP IL4R ENST00000170630 human ensembl 69_37n +1 known silent c.2409 p.Q803 0.002 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 25 0 0.00 44 25 36.23 - - - IQCA1 0 genome.wustl.edu 37 2 237405937 237405937 + Nonsense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 2 237405937 237405937 G A SNP IQCA1 ENST00000409907 human ensembl 69_37n -1 known nonsense c.205 p.R69* 1.000 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 39 0 0.00 54 17 23.94 - - - IRAK2 0 genome.wustl.edu 37 3 10254979 10254979 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 3 10254979 10254979 C T SNP IRAK2 ENST00000256458 human ensembl 69_37n +1 known missense c.617 p.A206V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK2 HGNC ENSG00000134070 44 0 0.00 59 27 31.03 - - - KALRN 0 genome.wustl.edu 37 3 124415017 124415017 + Nonstop_Mutation SNP G G C TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 3 124415017 124415017 G C SNP KALRN ENST00000354186 human ensembl 69_37n +1 novel nonstop c.7520 p.*2507S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KALRN HGNC ENSG00000160145 41 0 0.00 93 15 13.89 - - - KIAA2018 0 genome.wustl.edu 37 3 113374108 113374108 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 3 113374108 113374108 C T SNP KIAA2018 ENST00000316407 human ensembl 69_37n -1 known missense c.6421 p.E2141K 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors KIAA2018 HGNC ENSG00000176542 69 0 0.00 126 45 26.32 - - - KIF26B 0 genome.wustl.edu 37 1 245704136 245704136 + Nonsense_Mutation SNP G G T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 1 245704136 245704136 G T SNP KIF26B ENST00000407071 human ensembl 69_37n +1 known nonsense c.1234 p.E412* 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 32 0 0.00 76 28 26.92 - - - KRT24 0 genome.wustl.edu 37 17 38855709 38855709 + Missense_Mutation SNP C C G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 17 38855709 38855709 C G SNP KRT24 ENST00000264651 human ensembl 69_37n -1 known missense c.1348 p.D450H 0.988 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 35 0 0.00 93 24 20.51 - - - LDLRAD3 0 genome.wustl.edu 37 11 36119974 36119974 + Silent SNP A A G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 11 36119974 36119974 A G SNP LDLRAD3 ENST00000315571 human ensembl 69_37n +1 known silent c.417 p.Q139 0.496 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 25 0 0.00 27 24 46.15 - - - MARCH8 0 genome.wustl.edu 37 10 45956754 45956754 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 10 45956754 45956754 C T SNP MARCH8 ENST00000453424 human ensembl 69_37n -1 known missense c.841 p.E281K 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MARCH8 HGNC ENSG00000165406 20 0 0.00 42 13 23.64 - - - MAST3 0 genome.wustl.edu 37 19 18234421 18234421 + Missense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 19 18234421 18234421 G A SNP MAST3 ENST00000262811 human ensembl 69_37n +1 known missense c.502 p.E168K 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 26 0 0.00 50 19 27.54 - - - MDH1B 0 genome.wustl.edu 37 2 207610374 207610374 + Missense_Mutation SNP G G T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 2 207610374 207610374 G T SNP MDH1B ENST00000374412 human ensembl 69_37n -1 known missense c.1380 p.D460E 0.014 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 48 0 0.00 102 33 24.44 - - - MST1P9 0 genome.wustl.edu 37 1 17085614 17085614 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 1 17085614 17085614 G A SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known silent c.1107 p.T369 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 18 0 0.00 18 6 25.00 - - - MUC5B 0 genome.wustl.edu 37 11 1272374 1272374 + Missense_Mutation SNP C C G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 11 1272374 1272374 C G SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.14273 p.S4758C 0.004 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 140 0 0.00 324 120 26.97 - - - MYH9 0 genome.wustl.edu 37 22 36737526 36737526 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 22 36737526 36737526 G A SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known silent c.379 p.L127 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 64 0 0.00 104 34 24.64 - - - NAPRT1 0 genome.wustl.edu 37 8 144657482 144657482 + Missense_Mutation SNP T T C TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 8 144657482 144657482 T C SNP NAPRT1 ENST00000276844 human ensembl 69_37n -1 known missense c.1325 p.E442G 0.993 superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put - no_errors NAPRT1 HGNC ENSG00000147813 27 0 0.00 33 15 31.25 - - - NES 0 genome.wustl.edu 37 1 156640448 156640448 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 1 156640448 156640448 C T SNP NES ENST00000368223 human ensembl 69_37n -1 known missense c.3532 p.E1178K 0.000 NULL pfam_F - no_errors NES HGNC ENSG00000132688 13 0 0.00 34 7 17.07 - - - NLN 0 genome.wustl.edu 37 5 65084087 65084087 + Missense_Mutation SNP G G C TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 5 65084087 65084087 G C SNP NLN ENST00000380985 human ensembl 69_37n +1 known missense c.1101 p.Q367H 0.960 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 24 0 0.00 67 33 33.00 - - - NRIP1 0 genome.wustl.edu 37 21 16339570 16339570 + Frame_Shift_Del DEL T T - TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 21 16339570 16339570 T - DEL NRIP1 ENST00000318948 human ensembl 69_37n -1 known frame_shift_del c.944 p.Y315fs 0.379 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 34 0 0.00 57 10 14.93 - - - OR4N5 0 genome.wustl.edu 37 14 20612762 20612762 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 14 20612762 20612762 C T SNP OR4N5 ENST00000333629 human ensembl 69_37n +1 known missense c.868 p.R290C 0.999 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4N5 HGNC ENSG00000184394 30 0 0.00 47 31 39.74 - - - OR7C1 0 genome.wustl.edu 37 19 14910316 14910316 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 19 14910316 14910316 G A SNP OR7C1 ENST00000248073 human ensembl 69_37n -1 known silent c.633 p.F211 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 31 0 0.00 37 18 32.73 - - - PCDHB4 0 genome.wustl.edu 37 5 140502124 140502124 + Missense_Mutation SNP C C G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 5 140502124 140502124 C G SNP PCDHB4 ENST00000194152 human ensembl 69_37n +1 known missense c.544 p.R182G 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 29 0 0.00 42 33 44.00 - - - PCM1 0 genome.wustl.edu 37 8 17819588 17819588 + Frame_Shift_Del DEL C C - TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 8 17819588 17819588 C - DEL PCM1 ENST00000325083 human ensembl 69_37n +1 known frame_shift_del c.2368 p.P790fs 0.897 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 46 0 0.00 143 19 11.66 - - - PIK3CA 0 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 3 178936095 178936095 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1637 p.Q546R 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 48 0 0.00 92 26 22.03 - - - PPP1R3B 0 genome.wustl.edu 37 8 8998783 8998783 + Nonsense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 8 8998783 8998783 G A SNP PPP1R3B ENST00000310455 human ensembl 69_37n -1 known nonsense c.379 p.R127* 0.992 pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3B HGNC ENSG00000173281 27 0 0.00 51 14 21.54 - - - PTCHD3 0 genome.wustl.edu 37 10 27702459 27702459 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 10 27702459 27702459 C T SNP PTCHD3 ENST00000438700 human ensembl 69_37n -1 known missense c.721 p.V241M 0.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 34 0 0.00 40 23 36.51 - - - RBMXL3 0 genome.wustl.edu 37 X 114425884 114425884 + Missense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 X 114425884 114425884 G A SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known missense c.1880 p.G627E 0.021 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 40 0 0.00 65 13 16.67 - - - RGPD3 0 genome.wustl.edu 37 2 107050797 107050797 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 2 107050797 107050797 C T SNP RGPD3 ENST00000304514 human ensembl 69_37n -1 known missense c.2092 p.D698N 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 177 0 0.00 293 103 26.01 - - - RPL8 0 genome.wustl.edu 37 8 146017435 146017435 + Missense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 8 146017435 146017435 G A SNP RPL8 ENST00000262584 human ensembl 69_37n -1 known missense c.80 p.A27V 1.000 pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 9 0 0.00 20 8 28.57 - - - RPRD1B 0 genome.wustl.edu 37 20 36668886 36668886 + Missense_Mutation SNP C C G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 20 36668886 36668886 C G SNP RPRD1B ENST00000373433 human ensembl 69_37n +1 known missense c.201 p.I67M 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD1B HGNC ENSG00000101413 112 0 0.00 298 100 25.13 - - - RYR2 0 genome.wustl.edu 37 1 237802483 237802483 + Missense_Mutation SNP G G T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 1 237802483 237802483 G T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.7091 p.S2364I 0.162 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 34 0 0.00 129 32 19.88 - - - SIK1 0 genome.wustl.edu 37 21 44838354 44838354 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 21 44838354 44838354 G A SNP SIK1 ENST00000270162 human ensembl 69_37n -1 known silent c.1530 p.T510 1.000 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 20 0 0.00 19 15 44.12 - - - SIPA1L1 0 genome.wustl.edu 37 14 72139139 72139139 + Silent SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 14 72139139 72139139 C T SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known silent c.2904 p.V968 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 42 0 0.00 69 19 21.59 - - - SMG5 0 genome.wustl.edu 37 1 156238081 156238081 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 1 156238081 156238081 C T SNP SMG5 ENST00000361813 human ensembl 69_37n -1 known missense c.839 p.R280Q 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC ENSG00000198952 94 0 0.00 253 86 25.37 - - - SNAP91 0 genome.wustl.edu 37 6 84372142 84372142 + Splice_Site SNP C C G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 6 84372142 84372142 C G SNP SNAP91 ENST00000369694 human ensembl 69_37n -1 known splice_site c.274-1 e3-1 1.000 - - - no_errors SNAP91 HGNC ENSG00000065609 25 0 0.00 45 22 32.84 - - - SPAG17 0 genome.wustl.edu 37 1 118598416 118598416 + Missense_Mutation SNP A A T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 1 118598416 118598416 A T SNP SPAG17 ENST00000336338 human ensembl 69_37n -1 known missense c.2662 p.S888T 0.001 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 89 0 0.00 152 74 32.46 - - - ST5 0 genome.wustl.edu 37 11 8737243 8737243 + Silent SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 11 8737243 8737243 C T SNP ST5 ENST00000313726 human ensembl 69_37n -1 known silent c.1752 p.L584 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 35 0 0.00 28 23 45.10 - - - ST6GALNAC1 0 genome.wustl.edu 37 17 74623304 74623304 + Silent SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 17 74623304 74623304 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 69_37n -1 known silent c.1017 p.V339 0.059 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 17 0 0.00 22 12 35.29 - - - STARD9 0 genome.wustl.edu 37 15 42977291 42977291 + Missense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 15 42977291 42977291 G A SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known missense c.3515 p.R1172H 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 17 0 0.00 56 16 22.22 - - - SYNE1 0 genome.wustl.edu 37 6 152570399 152570399 + Splice_Site SNP T T C TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 6 152570399 152570399 T C SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known splice_site c.19471-2 e103-2 0.997 - - - no_errors SYNE1 HGNC ENSG00000131018 65 0 0.00 140 17 10.83 - - - TAF1 0 genome.wustl.edu 37 X 70617194 70617194 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 X 70617194 70617194 C T SNP TAF1 ENST00000483985 human ensembl 69_37n +1 putative missense c.227 p.S76L 0.999 NULL NULL - no_start_codon:pseudogene:bad_bp_length_for_coding_region TAF1 HGNC ENSG00000147133 50 0 0.00 147 36 19.67 - - - TBCK 0 genome.wustl.edu 37 4 107170104 107170104 + Missense_Mutation SNP C C G TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 4 107170104 107170104 C G SNP TBCK ENST00000273980 human ensembl 69_37n -1 known missense c.694 p.E232Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 30 0 0.00 62 17 21.52 - - - TRA2A 0 genome.wustl.edu 37 7 23545770 23545770 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 7 23545770 23545770 C T SNP TRA2A ENST00000297071 human ensembl 69_37n -1 known missense c.757 p.D253N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 36 0 0.00 68 18 20.93 - - - TTLL5 0 genome.wustl.edu 37 14 76349121 76349121 + Nonsense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 14 76349121 76349121 C T SNP TTLL5 ENST00000298832 human ensembl 69_37n +1 known nonsense c.3616 p.Q1206* 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 52 0 0.00 83 25 23.15 - - - TTN 0 genome.wustl.edu 37 2 179425385 179425385 + Missense_Mutation SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 2 179425385 179425385 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.77770 p.E25924K 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 15 0 0.00 20 18 47.37 - - - UBQLN3 0 genome.wustl.edu 37 11 5529922 5529922 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 11 5529922 5529922 G A SNP UBQLN3 ENST00000311659 human ensembl 69_37n -1 known silent c.867 p.T289 0.004 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 28 0 0.00 53 13 19.70 - - - WWC3 0 genome.wustl.edu 37 X 10058871 10058871 + Silent SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 X 10058871 10058871 C T SNP WWC3 ENST00000380861 human ensembl 69_37n +1 known silent c.438 p.I146 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC ENSG00000047644 58 0 0.00 90 36 28.57 - - - ZBED5 0 genome.wustl.edu 37 11 10874686 10874686 + Nonsense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 11 10874686 10874686 G A SNP ZBED5 ENST00000413761 human ensembl 69_37n -1 putative nonsense c.1807 p.Q603* 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd - no_errors ZBED5 HGNC ENSG00000236287 26 0 0.00 68 19 21.59 - - - ZBTB44 0 genome.wustl.edu 37 11 130109788 130109788 + Nonsense_Mutation SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b8732c3-78b1-409b-bc8c-c482575361bb 853ff819-807d-4569-b4e9-16f7f4cb59b3 11 130109788 130109788 G A SNP ZBTB44 ENST00000529982 human ensembl 69_37n -1 putative nonsense c.583 p.Q195* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZBTB44 HGNC ENSG00000196323 41 0 0.00 70 13 15.66 - - -