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 USP13 0 genome.wustl.edu 37 3 179499580 179499580 + Missense_Mutation SNP C C T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 3 179499580 179499580 C T SNP USP13 ENST00000263966 human ensembl 74_37 +1 known missense c.2467 p.H823Y 1.000 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 tier1 - - 61 0 0.00 43 26 37.68 119 0 0.00 88 52 37.14 PATZ1 0 genome.wustl.edu 37 22 31740715 31740715 + Missense_Mutation SNP G G T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 22 31740715 31740715 G T SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.874 p.L292I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 PATZ1 HGNC ENSG00000100105 tier1 - - 39 0 0.00 22 13 37.14 87 0 0.00 65 38 36.89 FRY 0 genome.wustl.edu 37 13 32802785 32802785 + Missense_Mutation SNP C C A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 13 32802785 32802785 C A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.5399 p.T1800K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 77 0 0.00 5 30 85.71 107 0 0.00 14 57 80.28 TRAF3IP3 0 genome.wustl.edu 37 1 209955540 209955540 + R SNP C C T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 1 209955540 209955540 C T SNP TRAF3IP3 ENST00000480569 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TRAF3IP3 HGNC ENSG00000009790 tier1 - - 22 0 0.00 14 18 56.25 170 1 0.58 80 50 38.46 ACE2 0 genome.wustl.edu 37 X 15579864 15579864 + R SNP G G T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 X 15579864 15579864 G T SNP ACE2 ENST00000471548 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACE2 HGNC ENSG00000130234 tier1 - - 36 0 0.00 27 19 41.30 101 0 0.00 57 64 52.89 ENSG00000272356 0 genome.wustl.edu 37 6 111630922 111630922 + R SNP T T C TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 6 111630922 111630922 T C SNP ENSG00000272356 ENST00000607434 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP5-1112D6.8 Clone_based_vega_gene ENSG00000272356 tier1 - - 28 0 0.00 12 13 52.00 46 0 0.00 29 24 45.28 SLC24A4 0 genome.wustl.edu 37 14 92959954 92959954 + Missense_Mutation SNP G G T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 14 92959954 92959954 G T SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.1851 p.M617I 1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 tier1 - - 151 0 0.00 12 66 84.62 52 0 0.00 10 16 61.54 IRS4 0 genome.wustl.edu 37 X 107975899 107975899 + Missense_Mutation SNP G G A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 X 107975899 107975899 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.3676 p.P1226S 0.702 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 72 0 0.00 43 46 51.11 82 0 0.00 44 23 34.33 MUC17 0 genome.wustl.edu 37 7 100687050 100687050 + Missense_Mutation SNP C C A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 7 100687050 100687050 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.12353 p.T4118K 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 rs200507888 GMAF=0.0005 35 0 0.00 10 14 58.33 98 0 0.00 47 61 56.48 DH14 0 genome.wustl.edu 37 1 225534313 225534313 + Missense_Mutation SNP A A G TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 1 225534313 225534313 A G SNP DH14 ENST00000430092 human ensembl 74_37 +1 known missense c.10974 p.I3658M 0.002 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DH14 HGNC ENSG00000185842 tier1 - - 24 0 0.00 12 12 50.00 99 0 0.00 49 51 51.00 LYST 0 genome.wustl.edu 37 1 235950617 235950617 + Nonsense_Mutation SNP G G T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 1 235950617 235950617 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known nonsense c.4745 p.S1582* 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 100 1 0.99 46 38 45.24 92 0 0.00 53 41 43.62 CYP2C19 0 genome.wustl.edu 37 10 96534925 96534925 + Missense_Mutation SNP G G T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 10 96534925 96534925 G T SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known missense c.279 p.E93D 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 tier1 - - 230 0 0.00 118 113 48.92 97 0 0.00 62 46 42.59 LCP2 0 genome.wustl.edu 37 5 169685121 169685121 + Silent SNP G G A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 5 169685121 169685121 G A SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known silent c.1020 p.N340 1.000 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 tier1 - - 30 0 0.00 17 11 39.29 128 0 0.00 87 44 33.59 SPINK13 0 genome.wustl.edu 37 5 147653942 147653942 + Missense_Mutation SNP C C T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 5 147653942 147653942 C T SNP SPINK13 ENST00000398450 human ensembl 74_37 +1 known missense c.103 p.P35S 0.376 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK13 HGNC ENSG00000214510 tier1 - - 47 0 0.00 21 19 47.50 91 0 0.00 61 19 23.75 ZNF514 0 genome.wustl.edu 37 2 95815475 95815475 + Missense_Mutation SNP C C G TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 2 95815475 95815475 C G SNP ZNF514 ENST00000295208 human ensembl 74_37 -1 known missense c.755 p.R252T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF514 HGNC ENSG00000144026 tier1 - - 85 0 0.00 52 58 52.73 64 0 0.00 40 41 50.62 SAPCD1-AS1 0 genome.wustl.edu 37 6 31732142 31732142 + R SNP A A T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 6 31732142 31732142 A T SNP SAPCD1-AS1 ENST00000419679 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SAPCD1-AS1 HGNC ENSG00000235663 tier1 - - 38 0 0.00 24 16 40.00 79 0 0.00 39 46 54.12 KANSL1 0 genome.wustl.edu 37 17 44144914 44144914 + Splice_Site SNP C C A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 17 44144914 44144914 C A SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known splice_site c.1652+1 e4+1 1.000 - - - no_errors KANSL1 HGNC ENSG00000120071 tier1 - - 32 0 0.00 57 16 21.92 115 0 0.00 129 44 25.43 PTPRT 0 genome.wustl.edu 37 20 40979337 40979337 + Frame_Shift_Del DEL G G - TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 20 40979337 40979337 G - DEL PTPRT ENST00000373198 human ensembl 74_37 -1 known frame_shift_del c.1796 p.P599fs 0.994 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 98 0 0.00 51 42 45.16 38 0 0.00 21 15 41.67 MORC3 0 genome.wustl.edu 37 21 37709262 37709272 + Frame_Shift_Del DEL ATGGGAATGGT ATGGGAATGGT - TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 ATGGGAATGGT ATGGGAATGGT ATGGGAATGGT - ATGGGAATGGT ATGGGAATGGT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 21 37709262 37709272 ATGGGAATGGT - DEL MORC3 ENST00000400485 human ensembl 74_37 +1 known frame_shift_del c.203_213 p.G69fs 1.000:0.999:1.000:1.000:0.996:1.000:1.000:0.967:1.000:1.000:0.229 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 tier1 82 0 0.00 87 15 14.71 82 0 0.00 87 15 14.71 TCEB3 0 genome.wustl.edu 37 1 24078180 24078181 + Frame_Shift_Ins INS - - G TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 - - - G - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 1 24078180 24078181 - G INS TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_ins c.1163_1164 p.E389fs 0.995:0.995 NULL pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 tier1 19 0 0.00 3 8 72.73 183 0 0.00 12 86 87.76 OPLAH 0 genome.wustl.edu 37 8 145111873 145111873 + Silent SNP G G A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 8 145111873 145111873 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.1684 p.L562 0.975 NULL pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 - - 11 0 0.00 14 9 39.13 15 0 0.00 7 5 41.67 VPS13A 0 genome.wustl.edu 37 9 79824413 79824413 + Missense_Mutation SNP A A G TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 9 79824413 79824413 A G SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.460 p.K154E 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 86 0 0.00 59 9 13.24 91 0 0.00 102 8 7.27 FBXO48 0 genome.wustl.edu 37 2 68691360 68691360 + Missense_Mutation SNP T T A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 2 68691360 68691360 T A SNP FBXO48 ENST00000377957 human ensembl 74_37 -1 known missense c.449 p.E150V 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO48 HGNC ENSG00000204923 tier1 - - 85 0 0.00 80 7 8.05 98 0 0.00 122 9 6.87 KRT80 0 genome.wustl.edu 37 12 52566026 52566026 + Silent SNP G G T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 12 52566026 52566026 G T SNP KRT80 ENST00000394815 human ensembl 74_37 -1 known silent c.1134 p.I378 0.801 pfam_IF pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT80 HGNC ENSG00000167767 tier1 - - 125 0 0.00 89 56 38.62 7 0 0.00 4 1 20.00 ENSG00000215941 0 genome.wustl.edu 37 3 38948847 38948854 + R DEL ATACACAC ATACACAC - TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 ATACACAC ATACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 3 38948847 38948854 ATACACAC - DEL ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - 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 FAM230C 0 genome.wustl.edu 37 22 21663321 21663322 + R INS - - AGCGA TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 22 21663321 21663322 - AGCGA INS FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 4 0 0.00 1 0 0.00 4 0 0.00 1 0 0.00 LOC100128374 0 genome.wustl.edu 37 7 1888754 1888759 + R DEL ACACAG ACACAG - TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 ACACAG ACACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 7 1888754 1888759 ACACAG - DEL LOC100128374 ENST00000480694 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.000:0.000:0.000:0.000:0.000 - - - no_errors AC110781.3 Clone_based_vega_gene ENSG00000176349 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 PPM1B 0 genome.wustl.edu 37 2 44396279 44396280 + R INS - - CGGAGGCGG TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 2 44396279 44396280 - CGGAGGCGG INS PPM1B ENST00000378540 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.999 - - - no_errors PPM1B HGNC ENSG00000138032 tier1 0 0 0.00 2 0 0.00 0 0 0.00 2 0 0.00 RPH3AL 0 genome.wustl.edu 37 17 185813 185874 + R DEL AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA - TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 17 185813 185874 AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA - DEL RPH3AL ENST00000574011 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.001:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.005:0.007:0.006:0.001:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.008:0.009:0.053 - - - no_errors RPH3AL HGNC ENSG00000181031 tier1 1 0 0.00 1 0 0.00 1 0 0.00 1 0 0.00 ANKRD17 0 genome.wustl.edu 37 4 74012985 74012985 + Nonsense_Mutation SNP C C A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 4 74012985 74012985 C A SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known nonsense c.1732 p.E578* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 tier1 - - 48 0 0.00 40 5 11.11 136 0 0.00 118 2 1.67 ENSG00000236295 0 genome.wustl.edu 37 2 217735201 217735202 + R INS - - A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6aa00162-6294-4ce7-b6b7-0c3452e24cd6 8475f0ef-158e-493e-82b5-44e895dfc0a7 2 217735201 217735202 - A INS ENSG00000236295 ENST00000418591 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.002 - - - no_errors AC007563.1 Clone_based_vega_gene ENSG00000236295 tier1 9 0 0.00 16 4 20.00 37 0 0.00 30 3 9.09