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 GCH1 0 genome.wustl.edu 37 14 55309792 55309792 + R SNP T T A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 14 55309792 55309792 T A SNP GCH1 ENST00000254299 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GCH1 HGNC ENSG00000131979 tier1 - - 30 0 0.00 29 10 25.64 73 0 0.00 55 26 32.10 RIOK1 0 genome.wustl.edu 37 6 7403055 7403055 + Missense_Mutation SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 6 7403055 7403055 G A SNP RIOK1 ENST00000379834 human ensembl 74_37 +1 known missense c.692 p.R231H 1.000 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 tier1 - - 65 0 0.00 25 21 45.65 88 0 0.00 33 39 54.17 DST 0 genome.wustl.edu 37 6 56504764 56504764 + Missense_Mutation SNP T T A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 6 56504764 56504764 T A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.2483 p.E828V 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 21 0 0.00 15 14 48.28 72 0 0.00 63 38 37.62 HSPA2 0 genome.wustl.edu 37 14 65008936 65008936 + Missense_Mutation SNP A A T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 14 65008936 65008936 A T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known missense c.1369 p.N457Y 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 tier1 - - 21 0 0.00 29 18 38.30 88 0 0.00 94 58 37.91 TNFSF12 0 genome.wustl.edu 37 17 7460466 7460466 + Silent SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 17 7460466 7460466 G A SNP TNFSF12 ENST00000293825 human ensembl 74_37 +1 known silent c.549 p.V183 0.961 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF12 HGNC ENSG00000239697 tier1 - - 57 0 0.00 39 22 36.07 37 0 0.00 56 30 34.88 SCNN1A 0 genome.wustl.edu 37 12 6464555 6464555 + Silent SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 12 6464555 6464555 C T SNP SCNN1A ENST00000358945 human ensembl 74_37 -1 known silent c.1026 p.L342 0.998 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 tier1 - - 14 0 0.00 3 9 75.00 61 0 0.00 18 35 66.04 CDC73 0 genome.wustl.edu 37 1 193181546 193181546 + Missense_Mutation SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 1 193181546 193181546 C T SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known missense c.1093 p.P365S 1.000 pfam_R_pol_access_fac_Cdc73 pfam_R_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 tier1 - - 93 0 0.00 64 27 29.67 104 0 0.00 64 46 41.82 TWIST1 0 genome.wustl.edu 37 7 19156406 19156406 + Missense_Mutation SNP T T C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 7 19156406 19156406 T C SNP TWIST1 ENST00000242261 human ensembl 74_37 -1 known missense c.539 p.H180R 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TWIST1 HGNC ENSG00000122691 tier1 - - 32 0 0.00 10 28 71.79 34 0 0.00 14 16 53.33 C6orf183 0 genome.wustl.edu 37 6 109578931 109578931 + R SNP C C A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 6 109578931 109578931 C A SNP C6orf183 ENST00000453496 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors C6orf183 HGNC ENSG00000243587 tier1 - - 25 0 0.00 16 13 44.83 22 0 0.00 18 16 47.06 NSUN4 0 genome.wustl.edu 37 1 46808674 46808674 + R SNP A A C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 1 46808674 46808674 A C SNP NSUN4 ENST00000498008 human ensembl 74_37 +1 known rna NULL NULL 0.248 - - - no_errors NSUN4 HGNC ENSG00000117481 tier1 - - 58 0 0.00 40 9 18.37 107 0 0.00 140 23 14.02 AMFR 0 genome.wustl.edu 37 16 56439139 56439139 + Silent SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 16 56439139 56439139 C T SNP AMFR ENST00000290649 human ensembl 74_37 -1 known silent c.684 p.V228 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 tier1 - - 40 0 0.00 46 10 17.86 98 0 0.00 168 36 17.48 ENSG00000205018 0 genome.wustl.edu 37 16 89017335 89017335 + Missense_Mutation SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 16 89017335 89017335 G A SNP ENSG00000205018 ENST00000378347 human ensembl 74_37 +1 putative missense c.809 p.R270Q 0.501 NULL NULL - no_errors RP11-830F9.6 Clone_based_vega_gene ENSG00000205018 tier1 - - 136 0 0.00 39 68 63.55 14 0 0.00 11 15 57.69 FAP 0 genome.wustl.edu 37 2 163070519 163070519 + Missense_Mutation SNP T T C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 2 163070519 163070519 T C SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.931 p.R311G 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 tier1 - - 26 0 0.00 19 14 42.42 89 0 0.00 97 63 39.38 CDC73 0 genome.wustl.edu 37 1 193181594 193181594 + Silent SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 1 193181594 193181594 C T SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known silent c.1141 p.L381 1.000 pfam_R_pol_access_fac_Cdc73 pfam_R_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 tier1 - - 74 0 0.00 55 16 22.54 102 1 0.97 61 44 41.90 SDK2 0 genome.wustl.edu 37 17 71434184 71434184 + Missense_Mutation SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 17 71434184 71434184 C T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.835 p.A279T 0.879 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 62 0 0.00 48 31 39.24 7 0 0.00 16 14 46.67 LIMD1-AS1 0 genome.wustl.edu 37 3 45730556 45730556 + R SNP A A G TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 3 45730556 45730556 A G SNP LIMD1-AS1 ENST00000429798 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LIMD1-AS1 HGNC ENSG00000230530 tier1 - - 31 0 0.00 10 12 52.17 62 0 0.00 55 40 42.11 GCH1 0 genome.wustl.edu 37 14 55309793 55309793 + R SNP C C A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 14 55309793 55309793 C A SNP GCH1 ENST00000254299 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GCH1 HGNC ENSG00000131979 tier1 - - 30 0 0.00 29 10 25.64 72 0 0.00 54 26 32.50 TM6SF1 0 genome.wustl.edu 37 15 83781571 83781571 + Missense_Mutation SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 15 83781571 83781571 G A SNP TM6SF1 ENST00000379386 human ensembl 74_37 +1 known missense c.115 p.A39T 0.997 NULL pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 tier1 - - 78 0 0.00 93 54 36.73 105 0 0.00 111 62 35.63 OR10G4 0 genome.wustl.edu 37 11 123886552 123886552 + Missense_Mutation SNP A A G TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 11 123886552 123886552 A G SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.271 p.I91V 0.421 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 tier1 - - 26 0 0.00 33 12 26.67 18 0 0.00 28 12 30.00 KIAA0556 0 genome.wustl.edu 37 16 27761600 27761600 + Missense_Mutation SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 16 27761600 27761600 G A SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.3319 p.A1107T 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 tier1 - - 20 0 0.00 5 8 61.54 116 0 0.00 63 34 35.05 OFD1 0 genome.wustl.edu 37 X 13771531 13771531 + Missense_Mutation SNP G G C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 X 13771531 13771531 G C SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.1100 p.R367P 0.000 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 tier1 - - 74 0 0.00 121 42 25.77 35 0 0.00 34 25 42.37 DOPEY2 0 genome.wustl.edu 37 21 37617590 37617590 + Silent SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 21 37617590 37617590 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.3312 p.P1104 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 12 0 0.00 17 7 29.17 21 0 0.00 13 13 50.00 TP53 0 genome.wustl.edu 37 17 7577545 7577545 + Missense_Mutation SNP T T C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 17 7577545 7577545 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.736 p.M246V 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 48 0 0.00 10 20 66.67 69 0 0.00 19 47 71.21 UGT1A3 0 genome.wustl.edu 37 2 234638180 234638180 + Silent SNP C C A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 2 234638180 234638180 C A SNP UGT1A3 ENST00000482026 human ensembl 74_37 +1 known silent c.408 p.A136 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 tier1 - - 80 0 0.00 54 28 34.15 18 0 0.00 16 15 48.39 ARHGEF4 0 genome.wustl.edu 37 2 131673046 131673046 + Silent SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 2 131673046 131673046 G A SNP ARHGEF4 ENST00000409359 human ensembl 74_37 +1 putative silent c.537 p.K179 0.000 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 tier1 - - 29 0 0.00 24 6 20.00 76 0 0.00 95 43 31.16 CWC22 0 genome.wustl.edu 37 2 180810224 180810224 + Missense_Mutation SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 2 180810224 180810224 C T SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.2359 p.D787N 0.941 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 tier1 - - 88 0 0.00 57 34 37.36 84 0 0.00 63 35 35.71 GRIA1 0 genome.wustl.edu 37 5 153190650 153190650 + Missense_Mutation SNP C C G TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 5 153190650 153190650 C G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.2616 p.N872K 0.995 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 54 0 0.00 58 25 30.12 70 0 0.00 50 51 50.50 ENSG00000258661 0 genome.wustl.edu 37 14 37116998 37116998 + R SNP G G C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 14 37116998 37116998 G C SNP ENSG00000258661 ENST00000555107 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-964E11.2 Clone_based_vega_gene ENSG00000258661 tier1 - - 41 0 0.00 20 20 50.00 28 0 0.00 48 13 21.31 PADI1 0 genome.wustl.edu 37 1 17570753 17570753 + R SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 1 17570753 17570753 G A SNP PADI1 ENST00000460293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PADI1 HGNC ENSG00000142623 tier1 - - 34 0 0.00 38 4 9.52 74 0 0.00 61 20 24.69 WDR3 0 genome.wustl.edu 37 1 118496638 118496638 + Silent SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 1 118496638 118496638 G A SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known silent c.2277 p.R759 1.000 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 tier1 - - 15 0 0.00 9 8 47.06 101 0 0.00 88 64 42.11 GINS3 0 genome.wustl.edu 37 16 58426423 58426423 + R SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 16 58426423 58426423 C T SNP GINS3 ENST00000564814 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors GINS3 HGNC ENSG00000181938 tier1 - - 26 0 0.00 10 7 41.18 98 0 0.00 85 17 16.50 NYAP1 0 genome.wustl.edu 37 7 100084455 100084455 + Missense_Mutation SNP A A C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 7 100084455 100084455 A C SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known missense c.80 p.E27A 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 tier1 - - 40 0 0.00 20 9 31.03 18 0 0.00 20 10 33.33 UNC5C 0 genome.wustl.edu 37 4 96140390 96140390 + Missense_Mutation SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 4 96140390 96140390 C T SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1375 p.V459I 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 tier1 - - 13 0 0.00 7 8 53.33 106 0 0.00 82 61 42.66 LAMP3 0 genome.wustl.edu 37 3 182871758 182871758 + Silent SNP C C A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 3 182871758 182871758 C A SNP LAMP3 ENST00000265598 human ensembl 74_37 -1 known silent c.471 p.G157 0.002 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP3 HGNC ENSG00000078081 tier1 - - 129 0 0.00 92 59 39.07 149 0 0.00 112 91 44.83 RLF 0 genome.wustl.edu 37 1 40661333 40661333 + Silent SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 1 40661333 40661333 G A SNP RLF ENST00000372771 human ensembl 74_37 +1 known silent c.504 p.G168 0.945 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 tier1 - - 20 0 0.00 14 9 39.13 120 1 0.81 84 59 41.26 DH17-AS1 0 genome.wustl.edu 37 17 76495054 76495054 + R SNP C C G TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 17 76495054 76495054 C G SNP DH17-AS1 ENST00000591373 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-559N14.5 Clone_based_vega_gene ENSG00000267432 tier1 - - 29 0 0.00 20 15 42.86 55 0 0.00 47 29 38.16 ARID1A 0 genome.wustl.edu 37 1 27088786 27088786 + Nonsense_Mutation SNP C C T TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 1 27088786 27088786 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.2395 p.Q799* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 30 0 0.00 29 10 25.64 78 0 0.00 67 60 47.24 CDC73 0 genome.wustl.edu 37 1 193181539 193181539 + Silent SNP C C A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 1 193181539 193181539 C A SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known silent c.1086 p.I362 1.000 pfam_R_pol_access_fac_Cdc73 pfam_R_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 tier1 - - 95 0 0.00 64 27 29.67 101 1 0.98 65 48 42.48 GPATCH1 0 genome.wustl.edu 37 19 33602767 33602767 + Missense_Mutation SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 19 33602767 33602767 G A SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known missense c.1723 p.E575K 1.000 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 tier1 - - 42 0 0.00 20 10 33.33 77 0 0.00 61 64 51.20 SEMA4D 0 genome.wustl.edu 37 9 91978732 91978732 + Missense_Mutation SNP G G C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 9 91978732 91978732 G C SNP SEMA4D ENST00000343780 human ensembl 74_37 -1 known missense c.2016 p.S672R 0.001 pfscan_Ig-like_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 tier1 - - 43 0 0.00 18 19 51.35 35 0 0.00 28 21 42.86 DH2 0 genome.wustl.edu 37 17 7678177 7678177 + Missense_Mutation SNP C C G TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 17 7678177 7678177 C G SNP DH2 ENST00000389173 human ensembl 74_37 +1 known missense c.4602 p.F1534L 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH2 HGNC ENSG00000183914 tier1 - - 35 0 0.00 23 8 25.81 64 0 0.00 70 34 32.69 CNKSR1 0 genome.wustl.edu 37 1 26511667 26511667 + Missense_Mutation SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 1 26511667 26511667 G A SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known missense c.1319 p.R440H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 tier1 - - 24 0 0.00 24 7 22.58 97 0 0.00 87 48 35.29 ERBB4 0 genome.wustl.edu 37 2 212248560 212248560 + Missense_Mutation SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 2 212248560 212248560 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3707 p.A1236V 0.996 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 70 0 0.00 77 29 27.36 85 0 0.00 75 69 47.92 TCIRG1 0 genome.wustl.edu 37 11 67808747 67808748 + Frame_Shift_Del DEL CA CA - TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 CA CA CA - CA CA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 11 67808747 67808748 CA - DEL TCIRG1 ENST00000265686 human ensembl 74_37 +1 known frame_shift_del c.9_10 p.M4fs 1.000:1.000 NULL pfam_V-ATPase_116kDa_su - no_errors TCIRG1 HGNC ENSG00000110719 tier1 34 0 0.00 38 10 20.83 33 0 0.00 24 14 36.84 TLN1 0 genome.wustl.edu 37 9 35711350 35711351 + Frame_Shift_Ins INS - - C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 9 35711350 35711351 - C INS TLN1 ENST00000314888 human ensembl 74_37 -1 known frame_shift_ins c.3921_3920 p.I1308fs 0.999:1.000 pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 tier1 35 0 0.00 24 16 40.00 107 0 0.00 89 53 37.32 ANO7 0 genome.wustl.edu 37 2 242128165 242128165 + Frame_Shift_Del DEL G G - TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 2 242128165 242128165 G - DEL ANO7 ENST00000274979 human ensembl 74_37 +1 known frame_shift_del c.139 p.G47fs 0.078 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 tier1 22 0 0.00 16 17 51.52 17 0 0.00 15 10 40.00 PDZD2 0 genome.wustl.edu 37 5 32108775 32108778 + R DEL ACTT ACTT - TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 ACTT ACTT ACTT - ACTT ACTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 5 32108775 32108778 ACTT - DEL PDZD2 ENST00000397559 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.005:0.008:0.010 - - - no_errors PDZD2 HGNC ENSG00000133401 tier1 53 0 0.00 31 8 20.51 93 0 0.00 81 37 31.36 SSPO 0 genome.wustl.edu 37 7 149500107 149500107 + R SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 7 149500107 149500107 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 19 0 0.00 7 7 50.00 13 0 0.00 7 3 30.00 ENSG00000215941 0 genome.wustl.edu 37 3 38948822 38948843 + R DEL TGTGTGTGTGTGTATATATCTA TGTGTGTGTGTGTATATATCTA - TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 TGTGTGTGTGTGTATATATCTA TGTGTGTGTGTGTATATATCTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 3 38948822 38948843 TGTGTGTGTGTGTATATATCTA - DEL ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.193:0.195:0.137:0.126:0.125:0.119:0.107:0.069:0.062:0.049:0.028:0.020:0.007:0.002:0.001:0.001:0.002:0.002:0.002:0.001:0.001:0.001 - - - no_errors AC116038.1 Clone_based_ensembl_gene ENSG00000215941 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000264222 0 genome.wustl.edu 37 18 14252079 14252080 + R INS - - C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 18 14252079 14252080 - C INS ENSG00000264222 ENST00000580200 human ensembl 74_37 +1 known rna NULL NULL 0.205:0.200 - - - no_errors RP11-757O6.1 Clone_based_vega_gene ENSG00000264222 tier1 31 0 0.00 8 3 27.27 0 0 0.00 0 0 0.00 LRRC37A 0 genome.wustl.edu 37 17 44409004 44409004 + Missense_Mutation SNP T T C TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed66c47-3927-4b0d-8bd9-3fcef06f7538 1770637f-2776-4d75-8831-d45979297d85 17 44409004 44409004 T C SNP LRRC37A ENST00000320254 human ensembl 74_37 +1 known missense c.4361 p.L1454P 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 tier1 rs200790029 - 10 0 0.00 18 9 33.33 0 0 0.00 0 0 0.00