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 AP2M1 0 genome.wustl.edu 37 3 183900729 183900729 + Missense_Mutation SNP T T C TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 183900729 183900729 T C SNP AP2M1 ENST00000442686 human ensembl 69_37n +1 putative missense c.316 p.C106R 0.000 pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_start_codon AP2M1 HGNC ENSG00000161203 8 0 0.00 2 12 85.71 - - - ATOH1 0 genome.wustl.edu 37 4 94751069 94751069 + Missense_Mutation SNP C C T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 4 94751069 94751069 C T SNP ATOH1 ENST00000306011 human ensembl 69_37n +1 known missense c.992 p.S331L 0.998 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors ATOH1 HGNC ENSG00000172238 8 0 0.00 5 4 44.44 - - - BRWD1 0 genome.wustl.edu 37 21 40570878 40570878 + Missense_Mutation SNP A A C TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 21 40570878 40570878 A C SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known missense c.5464 p.S1822A 0.999 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 143 0 0.00 126 20 13.70 - - - CACNA2D3 0 genome.wustl.edu 37 3 55107854 55107854 + Missense_Mutation SNP C C T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 55107854 55107854 C T SNP CACNA2D3 ENST00000288197 human ensembl 69_37n +1 known missense c.3151 p.R1051C 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 85 0 0.00 121 27 18.24 - - - CCDC135 0 genome.wustl.edu 37 16 57752290 57752290 + Missense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 16 57752290 57752290 G A SNP CCDC135 ENST00000360716 human ensembl 69_37n +1 known missense c.1109 p.R370K 0.989 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 98 0 0.00 199 31 13.48 - - - CCDC136 0 genome.wustl.edu 37 7 128452972 128452972 + Missense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 7 128452972 128452972 G A SNP CCDC136 ENST00000297788 human ensembl 69_37n +1 known missense c.2752 p.D918N 0.719 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 28 0 0.00 54 11 16.92 - - - CD163L1 0 genome.wustl.edu 37 12 7521559 7521559 + Missense_Mutation SNP G G T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 12 7521559 7521559 G T SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.4042 p.Q1348K 0.043 superfamily_Srcr_rcpt-rel pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 134 0 0.00 303 64 17.39 - - - CD19 0 genome.wustl.edu 37 16 28948420 28948420 + Silent SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 16 28948420 28948420 G A SNP CD19 ENST00000538922 human ensembl 69_37n +1 known silent c.1161 p.A387 0.217 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD19 HGNC ENSG00000177455 9 0 0.00 24 17 41.46 - - - CD84 0 genome.wustl.edu 37 1 160519760 160519760 + Missense_Mutation SNP A A T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 1 160519760 160519760 A T SNP CD84 ENST00000311224 human ensembl 69_37n -1 known missense c.919 p.S307T 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD84 HGNC ENSG00000066294 77 0 0.00 76 21 21.65 - - - CDK12 0 genome.wustl.edu 37 17 37682239 37682239 + Missense_Mutation SNP C C T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 17 37682239 37682239 C T SNP CDK12 ENST00000447079 human ensembl 69_37n +1 known missense c.3430 p.P1144S 1.000 NULL 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 - no_errors CDK12 HGNC ENSG00000167258 27 0 0.00 131 17 11.49 - - - CNTN3 0 genome.wustl.edu 37 3 74418526 74418526 + Splice_Site SNP T T C TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 74418526 74418526 T C SNP CNTN3 ENST00000263665 human ensembl 69_37n -1 known splice_site c.762-2 e7-2 1.000 - - - no_errors CNTN3 HGNC ENSG00000113805 33 0 0.00 29 5 14.71 - - - COL6A6 0 genome.wustl.edu 37 3 130313159 130313159 + Missense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 130313159 130313159 G A SNP COL6A6 ENST00000358511 human ensembl 69_37n +1 known missense c.4505 p.R1502H 0.003 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 84 0 0.00 56 15 21.13 - - - CXCL6 0 genome.wustl.edu 37 4 74702958 74702958 + Missense_Mutation SNP C C T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 4 74702958 74702958 C T SNP CXCL6 ENST00000226317 human ensembl 69_37n +1 known missense c.281 p.P94L 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors CXCL6 HGNC ENSG00000124875 267 0 0.00 183 56 23.43 - - - F2RL1 0 genome.wustl.edu 37 5 76128711 76128711 + Silent SNP C C T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 5 76128711 76128711 C T SNP F2RL1 ENST00000296677 human ensembl 69_37n +1 known silent c.279 p.N93 0.952 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors F2RL1 HGNC ENSG00000164251 123 0 0.00 146 32 17.98 - - - GAB3 0 genome.wustl.edu 37 X 153924213 153924213 + Silent SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc X 153924213 153924213 G A SNP GAB3 ENST00000424127 human ensembl 69_37n -1 known silent c.1509 p.D503 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 202 0 0.00 114 21 15.56 - - - GON4L 0 genome.wustl.edu 37 1 155823258 155823258 + Missense_Mutation SNP A A G TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 1 155823258 155823258 A G SNP GON4L ENST00000368331 human ensembl 69_37n -1 known missense c.314 p.L105P 0.017 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 133 0 0.00 86 94 52.22 - - - HIST3H3 0 genome.wustl.edu 37 1 228612911 228612911 + Missense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 1 228612911 228612911 G A SNP HIST3H3 ENST00000366696 human ensembl 69_37n -1 known missense c.116 p.P39L 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST3H3 HGNC ENSG00000168148 21 0 0.00 35 18 33.96 - - - IFT88 0 genome.wustl.edu 37 13 21165111 21165111 + Missense_Mutation SNP G G T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 13 21165111 21165111 G T SNP IFT88 ENST00000319980 human ensembl 69_37n +1 known missense c.243 p.K81N 1.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 315 0 0.00 75 60 44.44 - - - IRF3 0 genome.wustl.edu 37 19 50163080 50163080 + Missense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 19 50163080 50163080 G A SNP IRF3 ENST00000309877 human ensembl 69_37n -1 known missense c.1109 p.T370M 0.669 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 47 0 0.00 103 54 34.39 - - - ITGA5 0 genome.wustl.edu 37 12 54799461 54799461 + Missense_Mutation SNP C C T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 12 54799461 54799461 C T SNP ITGA5 ENST00000293379 human ensembl 69_37n -1 known missense c.1003 p.V335I 0.057 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 52 0 0.00 87 19 17.92 - - - ITIH3 0 genome.wustl.edu 37 3 52833413 52833413 + Missense_Mutation SNP T T A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 52833413 52833413 T A SNP ITIH3 ENST00000449956 human ensembl 69_37n +1 known missense c.815 p.F272Y 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 55 0 0.00 144 30 17.24 - - - KIAA1191 0 genome.wustl.edu 37 5 175782616 175782616 + Frame_Shift_Del DEL C C - TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 5 175782616 175782616 C - DEL KIAA1191 ENST00000298569 human ensembl 69_37n -1 known frame_shift_del c.165 p.W55fs 1.000 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 20 0 0.00 43 6 12.00 - - - KIAA1210 0 genome.wustl.edu 37 X 118223625 118223625 + Missense_Mutation SNP C C T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc X 118223625 118223625 C T SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.1568 p.R523Q 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 350 1 0.28 192 187 49.34 - - - KLHDC8B 0 genome.wustl.edu 37 3 49212375 49212375 + Missense_Mutation SNP G G C TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 49212375 49212375 G C SNP KLHDC8B ENST00000332780 human ensembl 69_37n +1 known missense c.742 p.V248L 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 42 0 0.00 113 20 15.04 - - - LRRC7 0 genome.wustl.edu 37 1 70505050 70505050 + Silent SNP C C T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 1 70505050 70505050 C T SNP LRRC7 ENST00000035383 human ensembl 69_37n +1 known silent c.3429 p.Y1143 0.988 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 30 0 0.00 33 7 17.50 - - - NLGN3 0 genome.wustl.edu 37 X 70375070 70375070 + Missense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc X 70375070 70375070 G A SNP NLGN3 ENST00000358741 human ensembl 69_37n +1 known missense c.584 p.R195Q 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 48 0 0.00 60 18 23.08 - - - NOS2 0 genome.wustl.edu 37 17 26087691 26087691 + Missense_Mutation SNP G G T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 17 26087691 26087691 G T SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.2968 p.R990S 1.000 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 18 0 0.00 81 15 15.62 - - - ODZ1 0 genome.wustl.edu 37 X 123805670 123805670 + Missense_Mutation SNP C C T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc X 123805670 123805670 C T SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.1031 p.G344D 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 108 0 0.00 68 61 47.29 - - - ODZ1 0 genome.wustl.edu 37 X 123805671 123805671 + Missense_Mutation SNP C C G TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc X 123805671 123805671 C G SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.1030 p.G344R 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 109 0 0.00 69 61 46.92 - - - PCDHB7 0 genome.wustl.edu 37 5 140553707 140553707 + Missense_Mutation SNP C C A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 5 140553707 140553707 C A SNP PCDHB7 ENST00000231137 human ensembl 69_37n +1 known missense c.1291 p.L431M 0.992 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 PCDHB7 HGNC ENSG00000113212 85 0 0.00 86 27 23.68 - - - POR 0 genome.wustl.edu 37 7 75609818 75609819 + Frame_Shift_Del DEL AG AG - TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 7 75609818 75609819 AG - DEL POR ENST00000447222 human ensembl 69_37n +1 putative frame_shift_del c.445_446 p.D150fs 0.002:0.000 pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region POR HGNC ENSG00000127948 8 0 0.00 14 19 54.29 - - - PPM1H 0 genome.wustl.edu 37 12 63042362 63042362 + Silent SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 12 63042362 63042362 G A SNP PPM1H ENST00000228705 human ensembl 69_37n -1 known silent c.1452 p.D484 1.000 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1H HGNC ENSG00000111110 73 0 0.00 137 27 16.46 - - - PRPF38A 0 genome.wustl.edu 37 1 52871475 52871475 + Missense_Mutation SNP A A G TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 1 52871475 52871475 A G SNP PRPF38A ENST00000257181 human ensembl 69_37n +1 known missense c.254 p.D85G 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 160 0 0.00 99 15 13.16 - - - RNF133 0 genome.wustl.edu 37 7 122338886 122338889 + Frame_Shift_Del DEL CTGA CTGA - TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 CTGA CTGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 7 122338886 122338889 CTGA - DEL RNF133 ENST00000340112 human ensembl 69_37n -1 known frame_shift_del c.87_84 p.S28fs 0.512:0.531:0.719:0.713 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 25 0 0.00 26 3 10.34 - - - RNF144A 0 genome.wustl.edu 37 2 7164587 7164587 + Missense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 2 7164587 7164587 G A SNP RNF144A ENST00000432850 human ensembl 69_37n +1 putative missense c.584 p.R195H 0.001 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RNF144A HGNC ENSG00000151692 21 0 0.00 27 18 39.13 - - - ROBO1 0 genome.wustl.edu 37 3 78666899 78666899 + Missense_Mutation SNP C C G TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 78666899 78666899 C G SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known missense c.4168 p.V1390L 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 45 0 0.00 80 16 16.67 - - - SKIL 0 genome.wustl.edu 37 3 170078980 170078980 + Silent SNP G G T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 170078980 170078980 G T SNP SKIL ENST00000259119 human ensembl 69_37n +1 known silent c.861 p.P287 0.002 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 124 0 0.00 164 36 18.00 - - - SKOR1 0 genome.wustl.edu 37 15 68118406 68118406 + Silent SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 15 68118406 68118406 G A SNP SKOR1 ENST00000380035 human ensembl 69_37n +1 known silent c.240 p.T80 0.991 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 18 0 0.00 34 8 19.05 - - - SMC4 0 genome.wustl.edu 37 3 160146661 160146661 + Missense_Mutation SNP T T G TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 160146661 160146661 T G SNP SMC4 ENST00000344722 human ensembl 69_37n +1 known missense c.2726 p.I909R 1.000 pfam_RecF/RecN/SMC,superfamily_Prefoldin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 171 0 0.00 105 22 17.32 - - - SMG1 0 genome.wustl.edu 37 16 18830918 18830918 + Missense_Mutation SNP G G T TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 16 18830918 18830918 G T SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known missense c.9803 p.A3268D 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 69 0 0.00 141 29 17.06 - - - TP53 0 genome.wustl.edu 37 17 7578272 7578272 + Missense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 17 7578272 7578272 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.577 p.H193Y 1.000 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 110 0 0.00 69 123 64.06 - - - TTN 0 genome.wustl.edu 37 2 179477701 179477701 + Missense_Mutation SNP T T C TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 2 179477701 179477701 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.42043 p.I14015V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 121 0 0.00 159 27 14.52 - - - TTN 0 genome.wustl.edu 37 2 179611635 179611635 + Silent SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 2 179611635 179611635 G A SNP TTN ENST00000360870 human ensembl 69_37n -1 known silent c.15492 p.S5164 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 139 0 0.00 104 33 24.09 - - - UBR4 0 genome.wustl.edu 37 1 19481474 19481474 + Silent SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 1 19481474 19481474 G A SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known silent c.6396 p.F2132 0.998 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 73 0 0.00 151 18 10.65 - - - WDR49 0 genome.wustl.edu 37 3 167223187 167223187 + Missense_Mutation SNP T T C TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 3 167223187 167223187 T C SNP WDR49 ENST00000308378 human ensembl 69_37n -1 known missense c.1736 p.D579G 0.282 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 220 0 0.00 39 13 25.00 - - - WDR78 0 genome.wustl.edu 37 1 67299695 67299695 + Nonsense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 1 67299695 67299695 G A SNP WDR78 ENST00000371026 human ensembl 69_37n -1 known nonsense c.1870 p.R624* 0.719 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 228 0 0.00 115 67 36.61 - - - ZER1 0 genome.wustl.edu 37 9 131513756 131513756 + Missense_Mutation SNP G G A TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fb924d9-3201-491b-90b1-fe8a6320b2d7 75395500-05e2-4acf-a25b-bd7743b389bc 9 131513756 131513756 G A SNP ZER1 ENST00000291900 human ensembl 69_37n -1 known missense c.974 p.P325L 0.999 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 55 0 0.00 111 22 16.54 - - -