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 EXOSC7 0 genome.wustl.edu 37 3 45048925 45048925 + Missense_Mutation SNP A A T TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 3 45048925 45048925 A T SNP EXOSC7 ENST00000265564 human ensembl 74_37 +1 known missense c.629 p.H210L 1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2 pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC7 HGNC ENSG00000075914 tier1 - - 53 0 0.00 62 7 10.14 57 1 1.72 29 5 14.71 IL1RAPL1 0 genome.wustl.edu 37 X 29301312 29301312 + Missense_Mutation SNP G G A TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc X 29301312 29301312 G A SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.340 p.G114S 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 52 0 0.00 46 4 8.00 40 0 0.00 46 6 11.54 PROZ 0 genome.wustl.edu 37 13 113826312 113826312 + Missense_Mutation SNP T T C TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 13 113826312 113826312 T C SNP PROZ ENST00000375547 human ensembl 74_37 +1 known missense c.1096 p.F366L 1.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROZ HGNC ENSG00000126231 tier1 - - 95 0 0.00 100 22 17.74 82 0 0.00 68 11 13.92 FREM2 0 genome.wustl.edu 37 13 39265060 39265060 + Missense_Mutation SNP G G A TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 13 39265060 39265060 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.3579 p.M1193I 0.970 superfamily_Cadherin-like pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 75 0 0.00 60 13 17.81 101 0 0.00 70 13 15.66 GNB2L1 0 genome.wustl.edu 37 5 180670201 180670201 + R SNP G G A TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 5 180670201 180670201 G A SNP GNB2L1 ENST00000514318 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors GNB2L1 HGNC ENSG00000204628 tier1 - - 58 0 0.00 45 4 8.16 67 0 0.00 81 14 14.74 ZNF521 0 genome.wustl.edu 37 18 22804482 22804482 + Missense_Mutation SNP C C G TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 18 22804482 22804482 C G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3400 p.G1134R 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 115 0 0.00 123 17 12.14 58 0 0.00 86 10 10.42 ZNF710 0 genome.wustl.edu 37 15 90617472 90617472 + Missense_Mutation SNP G G A TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 15 90617472 90617472 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.1775 p.R592Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 tier1 - - 41 0 0.00 40 4 9.09 41 0 0.00 15 6 28.57 C1orf173 0 genome.wustl.edu 37 1 75078322 75078322 + Frame_Shift_Del DEL G G - TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 1 75078322 75078322 G - DEL C1orf173 ENST00000326665 human ensembl 74_37 -1 known frame_shift_del c.1172 p.S391fs 1.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 107 0 0.00 111 20 15.27 149 0 0.00 101 22 17.89 A40 0 genome.wustl.edu 37 11 63720082 63720082 + R SNP G G A TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 11 63720082 63720082 G A SNP A40 ENST00000536939 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors A40 HGNC ENSG00000110583 tier1 - - 65 0 0.00 91 8 8.08 57 0 0.00 42 4 8.70 CSMD2 0 genome.wustl.edu 37 1 34002679 34002679 + Silent SNP C C T TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 1 34002679 34002679 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.9822 p.T3274 0.656 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 84 0 0.00 98 16 14.04 99 0 0.00 114 9 7.32 NF1 0 genome.wustl.edu 37 17 29560033 29560033 + Missense_Mutation SNP C C G TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 17 29560033 29560033 C G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.3510 p.H1170Q 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 82 0 0.00 110 12 9.84 89 0 0.00 89 6 6.32 DLX2 0 genome.wustl.edu 37 2 172966994 172966994 + Missense_Mutation SNP C C G TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 2 172966994 172966994 C G SNP DLX2 ENST00000234198 human ensembl 74_37 -1 known missense c.273 p.Q91H 1.000 pfam_Distal-less_N pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 tier1 - - 229 0 0.00 373 41 9.90 64 0 0.00 80 7 8.05 HNF1B 0 genome.wustl.edu 37 17 36104586 36104586 + Missense_Mutation SNP G G A TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 17 36104586 36104586 G A SNP HNF1B ENST00000225893 human ensembl 74_37 -1 known missense c.290 p.A97V 1.000 pfam_HNF-1_N,superfamily_Lambda_D-bd_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 tier1 - - 156 0 0.00 167 19 10.22 5 0 0.00 7 1 12.50 LOR 0 genome.wustl.edu 37 1 153233982 153233984 + In_Frame_Del DEL TCT TCT - TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 1 153233982 153233984 TCT - DEL LOR ENST00000368742 human ensembl 74_37 +1 known in_frame_del c.557_559 p.VC186in_frame_delG 0.000:0.001:0.002 NULL NULL - no_errors LOR HGNC ENSG00000203782 tier1 10 0 0.00 9 4 30.77 1 0 0.00 1 0 0.00 PIPSL 0 genome.wustl.edu 37 10 95718421 95718421 + R SNP C C T TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 10 95718421 95718421 C T SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.148 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 - - 32 0 0.00 25 5 16.67 0 0 0.00 0 0 0.00 KIAA1598 0 genome.wustl.edu 37 10 118689409 118689409 + Silent SNP T T C TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 10 118689409 118689409 T C SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known silent c.963 p.E321 0.630 superfamily_Adenylate_cyclase-assoc_CAP_N superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 tier1 - - 189 0 0.00 188 27 12.56 127 0 0.00 63 3 4.55 WNK2 0 genome.wustl.edu 37 9 96030314 96030326 + Frame_Shift_Del DEL TCCCAAGCCAACG TCCCAAGCCAACG - TCGA-DX-A6BG-01A-11D-A307-09 TCGA-DX-A6BG-10A-01D-A307-09 TCCCAAGCCAACG TCCCAAGCCAACG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fecf5edc-7a04-4f9d-a478-20c262780124 e882eeb1-035e-495c-b29b-5fcef3b36cfc 9 96030314 96030326 TCCCAAGCCAACG - DEL WNK2 ENST00000297954 human ensembl 74_37 +1 known frame_shift_del c.3880_3892 p.S1294fs 0.968:1.000:0.997:1.000:0.962:0.188:0.002:0.001:0.000:0.037:0.042:0.034:0.972 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 68 0 0.00 57 3 5.00 68 0 0.00 57 3 5.00