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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val CHD5 0 genome.wustl.edu 37 1 6209365 6209365 + Missense_Mutation SNP C C T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 1 6209365 6209365 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.1102 p.V368I 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 30 0 0.00 29 24 45.28 32 0 0.00 24 14 36.84 BTN2A1 0 genome.wustl.edu 37 6 26466202 26466202 + Splice_Site SNP G G A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 6 26466202 26466202 G A SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known splice_site c.955+1 e5+1 0.995 - - - no_errors BTN2A1 HGNC ENSG00000112763 tier1 rs145303049 GMAF=0.0005 81 0 0.00 56 50 47.17 49 0 0.00 47 15 24.19 NDNF 0 genome.wustl.edu 37 4 121958270 121958270 + Missense_Mutation SNP C C T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 4 121958270 121958270 C T SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.856 p.V286I 0.956 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 tier1 - - 18 0 0.00 24 5 17.24 92 0 0.00 81 23 22.12 PIK3AP1 0 genome.wustl.edu 37 10 98363808 98363808 + Splice_Site SNP T T A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 10 98363808 98363808 T A SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known splice_site c.2171-2 e15-2 0.955 - - - no_errors PIK3AP1 HGNC ENSG00000155629 tier1 - - 16 0 0.00 44 14 24.14 81 0 0.00 78 12 13.33 SERPI6 0 genome.wustl.edu 37 14 94772438 94772438 + Silent SNP G G A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 14 94772438 94772438 G A SNP SERPI6 ENST00000341584 human ensembl 74_37 -1 known silent c.1002 p.I334 0.036 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI6 HGNC ENSG00000170099 tier1 - - 46 0 0.00 47 28 37.33 105 0 0.00 100 61 37.89 LINC00700 0 genome.wustl.edu 37 10 2055669 2055669 + R SNP T T C TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 10 2055669 2055669 T C SNP LINC00700 ENST00000438372 human ensembl 74_37 -1 known rna NULL NULL 0.721 - - - no_errors LINC00700 HGNC ENSG00000234962 tier1 - - 63 0 0.00 32 27 45.76 76 0 0.00 57 38 40.00 GPR143 0 genome.wustl.edu 37 X 9711638 9711638 + Missense_Mutation SNP C C T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 X 9711638 9711638 C T SNP GPR143 ENST00000380929 human ensembl 74_37 -1 known missense c.794 p.R265Q 1.000 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 tier1 - - 20 0 0.00 24 23 48.94 37 0 0.00 33 30 47.62 ACLY 0 genome.wustl.edu 37 17 40065259 40065259 + Missense_Mutation SNP A A C TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 17 40065259 40065259 A C SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.599 p.L200R 1.000 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 tier1 - - 32 0 0.00 52 10 16.13 75 0 0.00 91 14 13.33 TMTC4 0 genome.wustl.edu 37 13 101264682 101264682 + Silent SNP T T C TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 13 101264682 101264682 T C SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known silent c.2034 p.A678 0.984 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 tier1 - - 36 0 0.00 31 44 58.67 80 0 0.00 29 41 58.57 CASZ1 0 genome.wustl.edu 37 1 10719966 10719966 + Missense_Mutation SNP A A T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 1 10719966 10719966 A T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.1133 p.V378D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 68 0 0.00 42 36 46.15 34 0 0.00 13 6 31.58 CCL23 0 genome.wustl.edu 37 17 34344871 34344871 + Missense_Mutation SNP G G A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 17 34344871 34344871 G A SNP CCL23 ENST00000293280 human ensembl 74_37 -1 known missense c.64 p.R22W 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL23 HGNC ENSG00000167236 tier1 - - 35 0 0.00 53 9 14.52 35 0 0.00 39 5 11.36 ANO7 0 genome.wustl.edu 37 2 242146995 242146995 + Silent SNP A A G TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 2 242146995 242146995 A G SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known silent c.1149 p.E383 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 tier1 - - 69 0 0.00 57 33 36.67 50 0 0.00 35 16 31.37 METTL25 0 genome.wustl.edu 37 12 82872802 82872802 + Nonstop_Mutation SNP G G C TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 12 82872802 82872802 G C SNP METTL25 ENST00000248306 human ensembl 74_37 +1 known nonstop c.1811 p.*604S 0.686 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 tier1 - - 39 0 0.00 338 211 38.36 46 0 0.00 477 249 34.25 HRH3 0 genome.wustl.edu 37 20 60791718 60791718 + Missense_Mutation SNP G G A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 20 60791718 60791718 G A SNP HRH3 ENST00000317393 human ensembl 74_37 -1 known missense c.682 p.R228C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH3 HGNC ENSG00000101180 tier1 - - 25 0 0.00 50 22 30.14 39 0 0.00 42 22 34.38 DYSF 0 genome.wustl.edu 37 2 71797272 71797272 + R SNP G G A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 2 71797272 71797272 G A SNP DYSF ENST00000461565 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DYSF HGNC ENSG00000135636 tier1 - - 58 0 0.00 57 26 31.33 71 0 0.00 77 24 23.76 LIPI 0 genome.wustl.edu 37 21 15481348 15481348 + Missense_Mutation SNP A A G TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 21 15481348 15481348 A G SNP LIPI ENST00000344577 human ensembl 74_37 -1 known missense c.1412 p.L471P 0.460 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 tier1 - - 48 0 0.00 44 33 42.86 107 0 0.00 57 37 39.36 APBA2 0 genome.wustl.edu 37 15 29346408 29346408 + Silent SNP C C T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 15 29346408 29346408 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.321 p.D107 0.995 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 31 0 0.00 36 32 47.06 30 0 0.00 17 20 54.05 SDHAP1 0 genome.wustl.edu 37 3 195713419 195713419 + R SNP C C T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 3 195713419 195713419 C T SNP SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 0.031 - - - no_errors SDHAP1 HGNC ENSG00000185485 tier1 - - 94 0 0.00 139 29 17.26 18 0 0.00 13 2 13.33 RIN1 0 genome.wustl.edu 37 11 66101439 66101439 + Silent SNP C C A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 11 66101439 66101439 C A SNP RIN1 ENST00000311320 human ensembl 74_37 -1 known silent c.1542 p.R514 0.342 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 tier1 - - 82 0 0.00 60 41 40.20 18 0 0.00 13 11 45.83 GPR98 0 genome.wustl.edu 37 5 90055265 90055265 + Missense_Mutation SNP G G C TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 5 90055265 90055265 G C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.11980 p.E3994Q 0.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 95 0 0.00 65 40 38.10 63 0 0.00 49 27 35.53 NTRK1 0 genome.wustl.edu 37 1 156837972 156837972 + Missense_Mutation SNP G G A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 1 156837972 156837972 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.505 p.G169R 0.001 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 38 0 0.00 64 15 18.99 40 0 0.00 39 13 25.00 METTL13 0 genome.wustl.edu 37 1 171763629 171763629 + Missense_Mutation SNP C C G TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 1 171763629 171763629 C G SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.1787 p.S596C 0.002 pfam_Spermidine/spermine_synthase pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 tier1 - - 52 0 0.00 184 16 8.00 94 0 0.00 314 50 13.74 HMMR 0 genome.wustl.edu 37 5 162891728 162891728 + Splice_Site SNP G G C TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 5 162891728 162891728 G C SNP HMMR ENST00000393915 human ensembl 74_37 +1 known splice_site c.146-1 e3-1 0.992 - - - no_errors HMMR HGNC ENSG00000072571 tier1 - - 47 0 0.00 73 13 15.12 73 0 0.00 93 21 18.42 ZNF611 0 genome.wustl.edu 37 19 53208629 53208629 + Missense_Mutation SNP T T G TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 19 53208629 53208629 T G SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.1679 p.H560P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 tier1 - - 71 0 0.00 71 67 48.55 29 0 0.00 16 21 55.26 LACE1 0 genome.wustl.edu 37 6 108616232 108616232 + R SNP C C G TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 6 108616232 108616232 C G SNP LACE1 ENST00000430458 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LACE1 HGNC ENSG00000135537 tier1 - - 32 0 0.00 52 24 31.58 41 0 0.00 40 6 13.04 TGFB1 0 genome.wustl.edu 37 19 41850691 41850691 + Missense_Mutation SNP C C G TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 19 41850691 41850691 C G SNP TGFB1 ENST00000221930 human ensembl 74_37 -1 known missense c.595 p.D199H 1.000 pfam_TGF-b_N,pirsf_TGF-beta,prints_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta - no_errors TGFB1 HGNC ENSG00000105329 tier1 - - 41 0 0.00 68 15 18.07 81 0 0.00 71 15 17.44 GABRG1 0 genome.wustl.edu 37 4 46067556 46067556 + Frame_Shift_Del DEL G G - TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 4 46067556 46067556 G - DEL GABRG1 ENST00000295452 human ensembl 74_37 -1 known frame_shift_del c.367 p.R123fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 31 0 0.00 30 22 42.31 90 0 0.00 57 36 38.71 SLC11A1 0 genome.wustl.edu 37 2 219251373 219251376 + Frame_Shift_Del DEL CTCT CTCT - TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 CTCT CTCT CTCT - CTCT CTCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 2 219251373 219251376 CTCT - DEL SLC11A1 ENST00000233202 human ensembl 74_37 +1 known frame_shift_del c.409_412 p.L137fs 1.000:1.000:0.998:1.000 pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 tier1 20 0 0.00 22 5 18.52 51 0 0.00 36 21 36.84 ENSG00000270433 0 genome.wustl.edu 37 14 23764732 23764733 + R INS - - A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 14 23764732 23764733 - A INS ENSG00000270433 ENST00000604456 human ensembl 74_37 +1 known rna NULL NULL 0.820:0.835 - - - no_errors RP11-124D2.7 Clone_based_vega_gene ENSG00000270433 tier1 15 0 0.00 34 6 15.00 9 0 0.00 8 2 20.00 HSPG2 0 genome.wustl.edu 37 1 22204712 22204712 + Silent SNP G G A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 1 22204712 22204712 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.2652 p.S884 0.591 pfam_EGF_laminin,smart_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 38 0 0.00 37 42 53.16 10 0 0.00 6 4 40.00 SPTBN5 0 genome.wustl.edu 37 15 42154053 42154053 + Silent SNP C C T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 15 42154053 42154053 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.7617 p.A2539 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 35 0 0.00 38 39 50.65 11 0 0.00 2 2 50.00 C20orf166-AS1 0 genome.wustl.edu 37 20 61143851 61143851 + R SNP C C T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 20 61143851 61143851 C T SNP C20orf166-AS1 ENST00000412495 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors C20orf166-AS1 HGNC ENSG00000174403 tier1 - - 88 0 0.00 246 37 13.07 19 0 0.00 76 8 9.52 NOS1 0 genome.wustl.edu 37 12 117723944 117723944 + Missense_Mutation SNP G G A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 12 117723944 117723944 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1255 p.R419C 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 35 0 0.00 122 13 9.63 52 0 0.00 103 9 8.04 CHSY3 0 genome.wustl.edu 37 5 129241142 129241142 + Missense_Mutation SNP C C T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 5 129241142 129241142 C T SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.620 p.S207F 1.000 pfam_Fringe-like pfam_Chond_Galc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 tier1 - - 32 0 0.00 20 7 25.93 10 0 0.00 9 1 10.00 KRTAP5-5 0 genome.wustl.edu 37 11 1651420 1651420 + Missense_Mutation SNP G G T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 11 1651420 1651420 G T SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known missense c.350 p.G117V 0.998 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 - - 53 0 0.00 25 21 45.65 6 0 0.00 2 0 0.00 ASCL1 0 genome.wustl.edu 37 12 103352171 103352172 + In_Frame_Ins INS - - GCAGCA TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 12 103352171 103352172 - GCAGCA INS ASCL1 ENST00000266744 human ensembl 74_37 +1 known in_frame_ins c.149_150 p.54in_frame_insQQ 0.997:0.997 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL1 HGNC ENSG00000139352 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 ENSG00000221415 0 genome.wustl.edu 37 4 49200283 49200283 + R SNP T T A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 4 49200283 49200283 T A SNP ENSG00000221415 ENST00000408488 human ensembl 74_37 +1 novel rna NULL NULL 0.005 - - - no_errors AC118282.1 Clone_based_ensembl_gene ENSG00000221415 tier1 - - 10 0 0.00 19 8 29.63 0 0 0.00 0 0 0.00 MAML3 0 genome.wustl.edu 37 4 140811111 140811111 + Silent SNP C C T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 4 140811111 140811111 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1479 p.Q493 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 rs62344937 - 45 0 0.00 27 6 18.18 0 0 0.00 0 0 0.00 PDE6B 0 genome.wustl.edu 37 4 619722 619722 + Missense_Mutation SNP G G A TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 4 619722 619722 G A SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.307 p.V103M 0.012 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 tier1 - - 47 0 0.00 32 17 34.69 1 0 0.00 9 0 0.00 TTC3 0 genome.wustl.edu 37 21 38463868 38463869 + R INS - - TTATTTAT TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 21 38463868 38463869 - TTATTTAT INS TTC3 ENST00000484047 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors TTC3 HGNC ENSG00000182670 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LOC101929290 0 genome.wustl.edu 37 8 11177525 11177526 + R INS - - T TCGA-DX-A48N-01A-11D-A307-09 TCGA-DX-A48N-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 93d25a05-5221-452e-a4b8-f1504d48e89c a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2 8 11177525 11177526 - T INS LOC101929290 ENST00000498997 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.005 - - - no_errors AF131216.6 Clone_based_vega_gene ENSG00000246477 tier1 19 0 0.00 16 4 20.00 30 0 0.00 32 3 8.57