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 XIRP2 0 genome.wustl.edu 37 2 168101135 168101135 + Missense_Mutation SNP G G T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 2 168101135 168101135 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.3233 p.S1078I 0.001 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 154 0 0.00 133 25 15.82 130 0 0.00 129 16 11.03 SYNJ1 0 genome.wustl.edu 37 21 34003353 34003353 + Silent SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 21 34003353 34003353 C T SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known silent c.4791 p.T1597 0.000 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 tier1 - - 50 0 0.00 43 12 21.82 103 0 0.00 52 27 34.18 NOB1 0 genome.wustl.edu 37 16 69783471 69783471 + Silent SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 16 69783471 69783471 C T SNP NOB1 ENST00000268802 human ensembl 74_37 -1 known silent c.390 p.L130 0.997 pirsf_D-site_20S_pre-rR_nuclease pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rR_nuclease - no_errors NOB1 HGNC ENSG00000141101 tier1 - - 89 0 0.00 108 39 26.53 87 0 0.00 65 15 18.52 HMCES 0 genome.wustl.edu 37 3 129017344 129017344 + Missense_Mutation SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 3 129017344 129017344 G A SNP HMCES ENST00000383463 human ensembl 74_37 +1 known missense c.601 p.D201N 1.000 pfam_DUF159,superfamily_DUF159 pfam_DUF159,superfamily_DUF159 - no_errors HMCES HGNC ENSG00000183624 tier1 - - 29 0 0.00 52 11 17.46 105 0 0.00 123 22 15.07 ESX1 0 genome.wustl.edu 37 X 103495558 103495558 + Missense_Mutation SNP C C A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c X 103495558 103495558 C A SNP ESX1 ENST00000372588 human ensembl 74_37 -1 known missense c.572 p.R191I 0.885 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU - no_errors ESX1 HGNC ENSG00000123576 tier1 - - 31 0 0.00 8 8 50.00 134 0 0.00 106 16 13.11 SLCO6A1 0 genome.wustl.edu 37 5 101834502 101834502 + Nonsense_Mutation SNP G G C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 5 101834502 101834502 G C SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known nonsense c.47 p.S16* 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 62 0 0.00 79 18 18.56 26 0 0.00 16 4 20.00 TRIO 0 genome.wustl.edu 37 5 14368832 14368832 + Missense_Mutation SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 5 14368832 14368832 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.2890 p.A964T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssD_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 rs139892017 - 19 0 0.00 17 7 29.17 33 0 0.00 23 5 17.86 CD163L1 0 genome.wustl.edu 37 12 7559146 7559146 + Missense_Mutation SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 12 7559146 7559146 C T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.1069 p.V357M 0.960 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 tier1 - - 63 0 0.00 52 6 10.34 80 0 0.00 70 8 10.26 CAPRIN2 0 genome.wustl.edu 37 12 30884415 30884415 + Missense_Mutation SNP A A C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 12 30884415 30884415 A C SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.922 p.L308V 0.998 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 tier1 - - 60 0 0.00 45 11 19.64 145 0 0.00 96 32 25.00 PPP2R5C 0 genome.wustl.edu 37 14 102368201 102368201 + Missense_Mutation SNP A A C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 14 102368201 102368201 A C SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known missense c.1091 p.K364T 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 tier1 - - 67 0 0.00 56 25 30.86 58 0 0.00 43 18 29.51 ZNF292 0 genome.wustl.edu 37 6 87943156 87943156 + Missense_Mutation SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 6 87943156 87943156 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.652 p.H218Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 - - 123 0 0.00 103 30 22.56 94 0 0.00 48 19 28.36 C1orf173 0 genome.wustl.edu 37 1 75037175 75037175 + Missense_Mutation SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 1 75037175 75037175 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.4219 p.E1407K 0.698 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 25 0 0.00 11 5 31.25 130 1 0.76 81 30 27.03 INTU 0 genome.wustl.edu 37 4 128635153 128635153 + Missense_Mutation SNP C C A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 4 128635153 128635153 C A SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.2622 p.N874K 0.497 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 tier1 - - 131 0 0.00 112 28 19.86 138 0 0.00 63 42 40.00 QSER1 0 genome.wustl.edu 37 11 32955585 32955585 + Silent SNP C C A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 11 32955585 32955585 C A SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known silent c.2394 p.L798 0.664 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 tier1 - - 34 0 0.00 38 8 17.39 134 0 0.00 67 31 31.63 DRD3 0 genome.wustl.edu 37 3 113850156 113850156 + Missense_Mutation SNP C C A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 3 113850156 113850156 C A SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.815 p.R272I 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 tier1 - - 32 0 0.00 31 6 16.22 121 0 0.00 117 39 25.00 HSD17B2 0 genome.wustl.edu 37 16 82131683 82131683 + Missense_Mutation SNP T T A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 16 82131683 82131683 T A SNP HSD17B2 ENST00000199936 human ensembl 74_37 +1 known missense c.806 p.I269N 0.026 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B2 HGNC ENSG00000086696 tier1 - - 33 0 0.00 47 16 25.40 120 0 0.00 116 19 14.07 TBX18 0 genome.wustl.edu 37 6 85447068 85447068 + Missense_Mutation SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 6 85447068 85447068 G A SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1159 p.P387S 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 tier1 - - 55 0 0.00 58 10 14.71 150 0 0.00 73 31 29.81 PADI1 0 genome.wustl.edu 37 1 17531793 17531793 + Silent SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 1 17531793 17531793 G A SNP PADI1 ENST00000375471 human ensembl 74_37 +1 known silent c.81 p.V27 0.917 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 tier1 - - 57 0 0.00 42 24 36.36 74 0 0.00 44 17 27.87 CSN1S1 0 genome.wustl.edu 37 4 70800429 70800429 + Splice_Site SNP G G T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 4 70800429 70800429 G T SNP CSN1S1 ENST00000246891 human ensembl 74_37 +1 known splice_site c.105+1 e3+1 0.990 - - - no_errors CSN1S1 HGNC ENSG00000126545 tier1 - - 35 0 0.00 21 6 22.22 72 1 1.37 45 8 15.09 TJP1 0 genome.wustl.edu 37 15 30033627 30033627 + Silent SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 15 30033627 30033627 C T SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known silent c.1164 p.V388 0.980 prints_ZonOcculS1 pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 - - 49 0 0.00 44 5 10.20 52 0 0.00 35 6 14.63 ZBTB41 0 genome.wustl.edu 37 1 197128578 197128578 + Missense_Mutation SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 1 197128578 197128578 G A SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.2641 p.P881S 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 tier1 - - 89 0 0.00 71 37 34.26 145 0 0.00 54 24 30.77 NUDT21 0 genome.wustl.edu 37 16 56480573 56480573 + Missense_Mutation SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 16 56480573 56480573 C T SNP NUDT21 ENST00000300291 human ensembl 74_37 -1 known missense c.346 p.D116N 1.000 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 - no_errors NUDT21 HGNC ENSG00000167005 tier1 - - 129 0 0.00 142 42 22.83 117 0 0.00 141 27 15.98 GDPD2 0 genome.wustl.edu 37 X 69644894 69644894 + Missense_Mutation SNP C C G TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c X 69644894 69644894 C G SNP GDPD2 ENST00000453994 human ensembl 74_37 +1 known missense c.60 p.S20R 1.000 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 tier1 - - 70 0 0.00 78 27 25.71 13 0 0.00 18 11 37.93 RELN 0 genome.wustl.edu 37 7 103183261 103183261 + Silent SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 7 103183261 103183261 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.6588 p.I2196 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 91 0 0.00 78 36 31.58 138 0 0.00 92 20 17.86 POLQ 0 genome.wustl.edu 37 3 121168204 121168204 + Missense_Mutation SNP C C A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 3 121168204 121168204 C A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.7222 p.D2408Y 1.000 pfam_D-dir_D_pol_A_palm_dom,smart_D-dir_D_pol_A_palm_dom pfam_D-dir_D_pol_A_palm_dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_D-dir_D_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_D_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 69 0 0.00 79 29 26.85 83 0 0.00 93 42 31.11 ZBTB41 0 genome.wustl.edu 37 1 197128821 197128821 + Missense_Mutation SNP G G C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 1 197128821 197128821 G C SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.2398 p.Q800E 0.994 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 tier1 - - 80 0 0.00 53 21 28.38 100 0 0.00 51 26 33.77 CLNK 0 genome.wustl.edu 37 4 10566314 10566314 + Missense_Mutation SNP G G C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 4 10566314 10566314 G C SNP CLNK ENST00000226951 human ensembl 74_37 -1 known missense c.380 p.T127R 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC ENSG00000109684 tier1 - - 53 0 0.00 62 9 12.68 132 0 0.00 97 17 14.91 ZDBF2 0 genome.wustl.edu 37 2 207175936 207175936 + Silent SNP G G T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 2 207175936 207175936 G T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.6684 p.S2228 0.152 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 105 0 0.00 121 17 12.32 91 0 0.00 81 19 19.00 AQP4 0 genome.wustl.edu 37 18 24436262 24436262 + Silent SNP T T C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 18 24436262 24436262 T C SNP AQP4 ENST00000383168 human ensembl 74_37 -1 known silent c.885 p.K295 1.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP4 HGNC ENSG00000171885 tier1 - - 55 0 0.00 53 14 20.90 198 1 0.50 128 21 14.09 ARAP2 0 genome.wustl.edu 37 4 36148956 36148956 + Silent SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 4 36148956 36148956 C T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.3225 p.G1075 0.995 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 166 0 0.00 146 26 15.12 141 1 0.70 103 21 16.94 AKAP10 0 genome.wustl.edu 37 17 19866275 19866275 + Missense_Mutation SNP G G C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 19866275 19866275 G C SNP AKAP10 ENST00000225737 human ensembl 74_37 -1 known missense c.197 p.A66G 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors AKAP10 HGNC ENSG00000108599 tier1 - - 81 0 0.00 91 27 22.88 58 0 0.00 95 18 15.93 WBP11P1 0 genome.wustl.edu 37 18 30092568 30092568 + R SNP T T C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 18 30092568 30092568 T C SNP WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WBP11P1 HGNC ENSG00000260389 tier1 - - 13 0 0.00 14 10 41.67 26 0 0.00 21 3 12.50 OR51A4 0 genome.wustl.edu 37 11 4967847 4967847 + Missense_Mutation SNP G G T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 11 4967847 4967847 G T SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.484 p.P162T 0.041 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 tier1 - - 106 0 0.00 80 21 20.79 235 0 0.00 175 40 18.60 TRIM4 0 genome.wustl.edu 37 7 99490311 99490311 + Silent SNP C C A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 7 99490311 99490311 C A SNP TRIM4 ENST00000355947 human ensembl 74_37 -1 known silent c.978 p.G326 0.994 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 tier1 - - 36 0 0.00 29 16 35.56 77 0 0.00 59 43 42.16 GTF3C1 0 genome.wustl.edu 37 16 27512569 27512569 + Silent SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 16 27512569 27512569 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.2004 p.E668 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 - - 36 0 0.00 37 10 21.28 111 0 0.00 124 32 20.51 VTN 0 genome.wustl.edu 37 17 26696816 26696816 + Missense_Mutation SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 26696816 26696816 C T SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.241 p.G81S 0.000 NULL pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 tier1 - - 8 0 0.00 7 9 56.25 65 1 1.52 60 27 31.03 C17orf76-AS1 0 genome.wustl.edu 37 17 16342828 16342828 + R SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 16342828 16342828 G A SNP C17orf76-AS1 ENST00000365172 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 tier1 - - 81 0 0.00 97 27 21.77 120 0 0.00 190 34 15.11 C17orf76-AS1 0 genome.wustl.edu 37 17 16342498 16342498 + R SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 16342498 16342498 G A SNP C17orf76-AS1 ENST00000470491 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 tier1 - - 66 0 0.00 78 16 17.02 49 0 0.00 72 16 18.18 SLC9C2 0 genome.wustl.edu 37 1 173556926 173556926 + Missense_Mutation SNP A A T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 1 173556926 173556926 A T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.401 p.I134K 0.001 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 115 0 0.00 89 66 42.58 111 0 0.00 65 49 42.98 APC 0 genome.wustl.edu 37 5 112178997 112178997 + Missense_Mutation SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 5 112178997 112178997 G A SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.7706 p.S2569N 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 38 0 0.00 29 16 35.56 127 0 0.00 56 20 26.32 ERCC5 0 genome.wustl.edu 37 13 103498672 103498672 + Missense_Mutation SNP C C G TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 13 103498672 103498672 C G SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.56 p.P19R 1.000 pfam_XPG_D_repair_N,smart_XPG_D_repair_N,prints_XPG/Rad2_eukaryotes,tigrfam_XPG/Rad2_eukaryotes pfam_XPG_D_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_D_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 tier1 - - 243 0 0.00 166 64 27.83 64 0 0.00 47 6 11.32 CNIH3 0 genome.wustl.edu 37 1 224872522 224872522 + Missense_Mutation SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 1 224872522 224872522 C T SNP CNIH3 ENST00000272133 human ensembl 74_37 +1 known missense c.175 p.R59C 1.000 NULL pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 tier1 - - 49 0 0.00 37 23 38.33 76 0 0.00 46 17 26.98 ATRX 0 genome.wustl.edu 37 X 76874272 76874272 + Splice_Site SNP A A T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c X 76874272 76874272 A T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known splice_site c.5448+2 e21+2 1.000 - - - no_errors ATRX HGNC ENSG00000085224 tier1 - - 112 0 0.00 49 17 25.76 92 0 0.00 51 12 19.05 PLS1 0 genome.wustl.edu 37 3 142405129 142405129 + Missense_Mutation SNP T T A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 3 142405129 142405129 T A SNP PLS1 ENST00000337777 human ensembl 74_37 +1 known missense c.892 p.S298T 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS1 HGNC ENSG00000120756 tier1 - - 86 0 0.00 105 25 19.23 70 0 0.00 96 14 12.73 ATP1A4 0 genome.wustl.edu 37 1 160156148 160156148 + Missense_Mutation SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 1 160156148 160156148 C T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.3052 p.H1018Y 0.000 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 tier1 - - 17 0 0.00 12 6 33.33 44 0 0.00 29 39 57.35 JPH1 0 genome.wustl.edu 37 8 75227251 75227251 + Silent SNP C C T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 8 75227251 75227251 C T SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known silent c.984 p.E328 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 tier1 - - 38 0 0.00 23 10 30.30 112 1 0.88 63 18 21.95 METTL21C 0 genome.wustl.edu 37 13 103343313 103343313 + Missense_Mutation SNP T T A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 13 103343313 103343313 T A SNP METTL21C ENST00000267273 human ensembl 74_37 -1 known missense c.132 p.E44D 0.001 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21C HGNC ENSG00000139780 tier1 - - 47 0 0.00 39 11 22.00 113 0 0.00 62 29 31.87 POM121L2 0 genome.wustl.edu 37 6 27276926 27276926 + Silent SNP A A C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 6 27276926 27276926 A C SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known silent c.3024 p.S1008 0.439 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 - - 69 0 0.00 51 24 32.00 101 0 0.00 71 19 21.11 APOB 0 genome.wustl.edu 37 2 21229754 21229754 + Missense_Mutation SNP A A G TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 2 21229754 21229754 A G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.9986 p.I3329T 0.142 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 48 0 0.00 44 8 15.38 83 0 0.00 64 10 13.51 OR4K14 0 genome.wustl.edu 37 14 20482732 20482732 + Silent SNP A A T TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 14 20482732 20482732 A T SNP OR4K14 ENST00000305045 human ensembl 74_37 -1 known silent c.621 p.L207 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 tier1 - - 64 0 0.00 23 9 28.12 88 0 0.00 49 13 20.97 C17orf76-AS1 0 genome.wustl.edu 37 17 16343502 16343502 + R SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 16343502 16343502 G A SNP C17orf76-AS1 ENST00000460249 human ensembl 74_37 +1 known rna NULL NULL 0.052 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 tier1 - - 56 0 0.00 84 23 21.50 74 0 0.00 105 21 16.67 MAS1L 0 genome.wustl.edu 37 6 29455533 29455533 + Silent SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 6 29455533 29455533 G A SNP MAS1L ENST00000377127 human ensembl 74_37 -1 known silent c.147 p.G49 0.003 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 tier1 - - 32 0 0.00 29 6 17.14 96 0 0.00 52 19 26.76 TUT1 0 genome.wustl.edu 37 11 62342591 62342591 + Frame_Shift_Del DEL G G - TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 11 62342591 62342591 G - DEL TUT1 ENST00000308436 human ensembl 74_37 -1 known frame_shift_del c.2714 p.P905fs 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 tier1 67 0 0.00 50 20 28.57 77 0 0.00 54 24 30.77 C17orf76-AS1 0 genome.wustl.edu 37 17 16342302 16342302 + R SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 16342302 16342302 G A SNP C17orf76-AS1 ENST00000475947 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 tier1 - - 44 0 0.00 40 11 21.57 124 0 0.00 134 14 9.46 RNF213 0 genome.wustl.edu 37 17 78272139 78272139 + Silent SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 78272139 78272139 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.2031 p.V677 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 20 0 0.00 45 14 23.73 49 0 0.00 74 7 8.64 METTL23 0 genome.wustl.edu 37 17 74725851 74725851 + Missense_Mutation SNP C C G TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 74725851 74725851 C G SNP METTL23 ENST00000341249 human ensembl 74_37 +1 known missense c.59 p.S20C 0.072 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL23 HGNC ENSG00000181038 tier1 - - 76 0 0.00 106 12 10.08 129 0 0.00 143 11 7.14 PTMAP5 0 genome.wustl.edu 37 13 82264345 82264345 + R SNP C C A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 13 82264345 82264345 C A SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.708 - - - no_errors PTMAP5 HGNC ENSG00000214182 tier1 - - 71 0 0.00 31 10 24.39 21 1 4.55 11 9 45.00 KRTAP2-2 0 genome.wustl.edu 37 17 39211139 39211140 + In_Frame_Ins INS - - GCAGGGGGGCCGGCA TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 39211139 39211140 - GCAGGGGGGCCGGCA INS KRTAP2-2 ENST00000542910 human ensembl 74_37 -1 known in_frame_ins c.325_324 p.108in_frame_insCRPPC 1.000:1.000 NULL pfam_Keratin-assoc - no_errors KRTAP2-2 HGNC ENSG00000214518 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LOC101927060 0 genome.wustl.edu 37 17 45177320 45177321 + R INS - - CGGCCC TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 17 45177320 45177321 - CGGCCC INS LOC101927060 ENST00000571665 human ensembl 74_37 -1 known rna NULL NULL 0.380:0.408 - - - no_errors RP11-156P1.3 Clone_based_vega_gene ENSG00000262879 tier1 0 0 0.00 0 1 100.00 0 0 0.00 0 1 100.00 LOC101927905 0 genome.wustl.edu 37 12 8388156 8388156 + R SNP G G C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 12 8388156 8388156 G C SNP LOC101927905 ENST00000304751 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-266K4.9 Clone_based_vega_gene ENSG00000215241 tier1 - - 144 0 0.00 112 19 14.50 1 0 0.00 0 0 0.00 MSH3 0 genome.wustl.edu 37 5 79950700 79950717 + In_Frame_Del DEL GCAGCGGCTGCAGCGGCC GCAGCGGCTGCAGCGGCC - TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 GCAGCGGCTGCAGCGGCC GCAGCGGCTGCAGCGGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 5 79950700 79950717 GCAGCGGCTGCAGCGGCC - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known in_frame_del c.154_171 p.AAAAAA55in_frame_del 0.640:0.607:0.574:0.541:0.508:0.474:0.440:0.406:0.372:0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075 NULL pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 POTEC 0 genome.wustl.edu 37 18 14538212 14538212 + Silent SNP T T A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 18 14538212 14538212 T A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.558 p.S186 0.863 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 tier1 - - 29 0 0.00 10 12 54.55 2 0 0.00 2 0 0.00 SLC35G5 0 genome.wustl.edu 37 8 11188715 11188715 + Missense_Mutation SNP T T A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 8 11188715 11188715 T A SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.100 p.S34T 0.727 NULL pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 tier1 - - 120 0 0.00 97 17 14.91 0 0 0.00 0 0 0.00 TMEM229A 0 genome.wustl.edu 37 7 123672457 123672459 + In_Frame_Del DEL GCT GCT - TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15076dc6-beed-4d04-be1d-56f27a846f2b a997a9b9-974e-4494-b473-f7f442843b4c 7 123672457 123672459 GCT - DEL TMEM229A ENST00000455783 human ensembl 74_37 -1 known in_frame_del c.601_599 p.Q200in_frame_del 0.000:0.000:0.001 NULL NULL - no_errors TMEM229A HGNC ENSG00000234224 tier1 9 0 0.00 8 2 20.00 2 0 0.00 0 0 0.00