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 FZD5 0 genome.wustl.edu 37 2 208632893 208632893 + Nonsense_Mutation SNP T T A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 2 208632893 208632893 T A SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known nonsense c.571 p.K191* 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 tier1 - - 53 0 0.00 21 14 40.00 41 0 0.00 23 13 36.11 BARHL2 0 genome.wustl.edu 37 1 91180171 91180171 + Silent SNP G G A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 1 91180171 91180171 G A SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known silent c.768 p.Y256 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 tier1 - - 75 0 0.00 42 13 23.64 46 0 0.00 32 9 21.95 STEAP1 0 genome.wustl.edu 37 7 89791383 89791383 + Missense_Mutation SNP C C G TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 7 89791383 89791383 C G SNP STEAP1 ENST00000297205 human ensembl 74_37 +1 known missense c.753 p.H251Q 0.969 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1 HGNC ENSG00000164647 tier1 - - 109 0 0.00 65 26 28.57 64 0 0.00 41 16 28.07 RBM6 0 genome.wustl.edu 37 3 50005514 50005514 + Missense_Mutation SNP A A C TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 3 50005514 50005514 A C SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.656 p.D219A 0.978 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 tier1 - - 39 0 0.00 20 7 25.93 139 0 0.00 78 63 44.68 SCN2A 0 genome.wustl.edu 37 2 166187935 166187935 + Missense_Mutation SNP A A G TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 2 166187935 166187935 A G SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.2245 p.K749E 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 71 0 0.00 50 36 41.86 123 0 0.00 54 47 46.08 GRIA1 0 genome.wustl.edu 37 5 152873487 152873487 + Splice_Site SNP G G A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 5 152873487 152873487 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known splice_site c.113-1 e2-1 1.000 - - - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 49 0 0.00 28 4 12.50 79 0 0.00 45 6 11.54 KCNK10 0 genome.wustl.edu 37 14 88652154 88652154 + Missense_Mutation SNP C C T TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 14 88652154 88652154 C T SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.1357 p.G453R 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 tier1 - - 141 0 0.00 39 30 43.48 114 0 0.00 29 30 50.85 KIF27 0 genome.wustl.edu 37 9 86530369 86530369 + Silent SNP A A C TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 9 86530369 86530369 A C SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known silent c.138 p.T46 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 tier1 - - 142 0 0.00 111 21 15.79 86 0 0.00 75 19 20.21 THTPA 0 genome.wustl.edu 37 14 24028936 24028936 + R SNP T T A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 14 24028936 24028936 T A SNP THTPA ENST00000553985 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RP11-66N24.4 Clone_based_vega_gene ENSG00000157306 tier1 - - 27 0 0.00 18 4 18.18 99 0 0.00 91 19 17.27 FRMPD4 0 genome.wustl.edu 37 X 12736131 12736131 + Missense_Mutation SNP T T G TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 X 12736131 12736131 T G SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.3186 p.S1062R 0.624 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 tier1 - - 11 0 0.00 9 13 59.09 78 0 0.00 43 31 41.89 TRPM1 0 genome.wustl.edu 37 15 31339353 31339353 + Silent SNP G G A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 15 31339353 31339353 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.1776 p.N592 0.749 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 87 0 0.00 43 29 39.73 110 0 0.00 71 31 30.39 BAHCC1 0 genome.wustl.edu 37 17 79426613 79426613 + Missense_Mutation SNP C C T TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 17 79426613 79426613 C T SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.5888 p.P1963L 0.998 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 tier1 - - 69 0 0.00 23 28 53.85 51 0 0.00 29 34 53.97 HIPK1 0 genome.wustl.edu 37 1 114515911 114515911 + Missense_Mutation SNP G G A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 1 114515911 114515911 G A SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.3410 p.G1137D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK1 HGNC ENSG00000163349 tier1 - - 34 0 0.00 29 22 43.14 59 0 0.00 33 34 50.75 FCGBP 0 genome.wustl.edu 37 19 40363977 40363977 + Missense_Mutation SNP T T G TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 19 40363977 40363977 T G SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.14665 p.K4889Q 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 58 0 0.00 29 25 46.30 104 0 0.00 77 57 42.54 FAM46A 0 genome.wustl.edu 37 6 82459945 82459945 + Missense_Mutation SNP C C G TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 6 82459945 82459945 C G SNP FAM46A ENST00000369754 human ensembl 74_37 -1 known missense c.853 p.G285R 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 tier1 - - 55 0 0.00 23 21 47.73 91 0 0.00 48 37 43.02 RXFP3 0 genome.wustl.edu 37 5 33937261 33937261 + Missense_Mutation SNP C C T TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 5 33937261 33937261 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.416 p.A139V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 tier1 - - 46 0 0.00 21 18 46.15 102 0 0.00 64 40 38.46 SCFD1 0 genome.wustl.edu 37 14 31091601 31091601 + Silent SNP G G A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 14 31091601 31091601 G A SNP SCFD1 ENST00000458591 human ensembl 74_37 +1 known silent c.57 p.Q19 1.000 superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 tier1 - - 92 0 0.00 44 35 44.30 79 0 0.00 29 40 57.97 KDELC1 0 genome.wustl.edu 37 13 103436678 103436678 + R SNP T T A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 13 103436678 103436678 T A SNP KDELC1 ENST00000460338 human ensembl 74_37 -1 known rna NULL NULL 0.121 - - - no_errors KDELC1 HGNC ENSG00000134901 tier1 - - 26 0 0.00 14 10 41.67 23 0 0.00 14 14 50.00 TRIOBP 0 genome.wustl.edu 37 22 38155238 38155238 + Silent SNP G G A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 22 38155238 38155238 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known silent c.6291 p.E2097 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 38 0 0.00 12 21 63.64 35 0 0.00 22 19 45.24 LGALS12 0 genome.wustl.edu 37 11 63276351 63276351 + Missense_Mutation SNP G G C TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 11 63276351 63276351 G C SNP LGALS12 ENST00000340246 human ensembl 74_37 +1 known missense c.329 p.C110S 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS12 HGNC ENSG00000133317 tier1 - - 49 0 0.00 23 16 41.03 58 0 0.00 41 25 37.88 HIPK1 0 genome.wustl.edu 37 1 114512653 114512653 + Missense_Mutation SNP G G C TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 1 114512653 114512653 G C SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.2847 p.L949F 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK1 HGNC ENSG00000163349 tier1 - - 79 0 0.00 56 33 37.08 94 0 0.00 45 33 42.31 UNC13A 0 genome.wustl.edu 37 19 17740964 17740964 + Missense_Mutation SNP C C T TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 19 17740964 17740964 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.3923 p.R1308H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 39 0 0.00 32 12 27.27 110 0 0.00 82 52 38.81 ATM 0 genome.wustl.edu 37 11 108159802 108159802 + Missense_Mutation SNP G G T TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 11 108159802 108159802 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.4208 p.S1403I 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 68 0 0.00 51 12 19.05 108 0 0.00 76 23 22.33 PRDM15 0 genome.wustl.edu 37 21 43230531 43230531 + Missense_Mutation SNP G G T TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 21 43230531 43230531 G T SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.3729 p.H1243Q 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 29 0 0.00 22 4 15.38 11 0 0.00 15 2 11.76 ACOT13 0 genome.wustl.edu 37 6 24687908 24687908 + R DEL A A - TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 6 24687908 24687908 A - DEL ACOT13 ENST00000476436 human ensembl 74_37 +1 known rna NULL NULL 0.636 - - - no_errors ACOT13 HGNC ENSG00000112304 tier1 24 0 0.00 18 12 40.00 34 0 0.00 23 10 30.30 ARFGEF1 0 genome.wustl.edu 37 8 68172143 68172144 + Frame_Shift_Ins INS - - TT TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 - - - TT - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 8 68172143 68172144 - TT INS ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_ins c.2142_2141 p.G716fs 1.000:1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 tier1 84 0 0.00 36 23 38.98 121 0 0.00 81 45 35.71 ATM 0 genome.wustl.edu 37 11 108159797 108159797 + Frame_Shift_Del DEL A A - TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 11 108159797 108159797 A - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.4203 p.S1403fs 0.201 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 71 0 0.00 51 12 19.05 113 0 0.00 77 22 22.22 GSTA5 0 genome.wustl.edu 37 6 52705543 52705543 + Silent SNP C C G TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 6 52705543 52705543 C G SNP GSTA5 ENST00000284562 human ensembl 74_37 -1 known silent c.69 p.L23 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,prints_GST_alpha pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC ENSG00000182793 tier1 - - 67 0 0.00 31 18 36.73 19 0 0.00 8 9 52.94 PCNXL3 0 genome.wustl.edu 37 11 65402801 65402801 + Missense_Mutation SNP G G A TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 11 65402801 65402801 G A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.5066 p.S1689N 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 tier1 - - 10 0 0.00 14 9 39.13 5 0 0.00 6 3 33.33 TP53 0 genome.wustl.edu 37 17 7577114 7577114 + Missense_Mutation SNP C C T TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 17 7577114 7577114 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.824 p.C275Y 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 - - 51 0 0.00 3 19 82.61 113 0 0.00 4 51 89.47 FAM230C 0 genome.wustl.edu 37 22 21663186 21663187 + R INS - - TAGCGA TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 22 21663186 21663187 - TAGCGA INS FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.008 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 0 0 0.00 2 0 0.00 0 0 0.00 2 0 0.00 FAM86B2 0 genome.wustl.edu 37 8 12293822 12293822 + Missense_Mutation SNP G G T TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 8 12293822 12293822 G T SNP FAM86B2 ENST00000262365 human ensembl 74_37 -1 known missense c.31 p.L11I 0.397 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B2 HGNC ENSG00000145002 tier1 - - 50 0 0.00 36 8 18.18 2 0 0.00 1 0 0.00 CLCN1 0 genome.wustl.edu 37 7 143042676 143042676 + Silent SNP C C T TCGA-DX-A6B7-01A-11D-A307-09 TCGA-DX-A6B7-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe12005c-6c77-45ca-a85d-e85367fa7567 6aff930d-fe20-4689-9af5-f730e5d138e0 7 143042676 143042676 C T SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known silent c.1993 p.L665 0.998 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 tier1 - - 174 0 0.00 87 62 41.61 4 0 0.00 3 2 40.00