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 RDH16 0 genome.wustl.edu 37 12 57346713 57346713 + Missense_Mutation SNP C C T TCGA-DX-A3U6-01A-11D-A29N-09 TCGA-DX-A3U6-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq db650eff-4e2c-4ce3-9124-7697b6e03359 7536cf00-aed9-4045-94e7-e562e7ec6b34 12 57346713 57346713 C T SNP RDH16 ENST00000398138 human ensembl 74_37 -1 known missense c.634 p.A212T 0.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC ENSG00000139547 tier1 - - 23 0 0.00 24 10 29.41 91 0 0.00 97 100 50.76 FIBCD1 0 genome.wustl.edu 37 9 133779553 133779553 + Silent SNP G G A TCGA-DX-A3U6-01A-11D-A29N-09 TCGA-DX-A3U6-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq db650eff-4e2c-4ce3-9124-7697b6e03359 7536cf00-aed9-4045-94e7-e562e7ec6b34 9 133779553 133779553 G A SNP FIBCD1 ENST00000372338 human ensembl 74_37 -1 known silent c.1284 p.H428 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FIBCD1 HGNC ENSG00000130720 tier1 - - 46 0 0.00 23 4 14.81 21 0 0.00 18 3 14.29 PRELID1P1 0 genome.wustl.edu 37 6 126964903 126964903 + R SNP G G A TCGA-DX-A3U6-01A-11D-A29N-09 TCGA-DX-A3U6-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq db650eff-4e2c-4ce3-9124-7697b6e03359 7536cf00-aed9-4045-94e7-e562e7ec6b34 6 126964903 126964903 G A SNP PRELID1P1 ENST00000567272 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRELID1P1 HGNC ENSG00000217325 tier1 - - 50 0 0.00 52 13 20.00 12 0 0.00 7 4 36.36 ENSG00000221672 0 genome.wustl.edu 37 22 47243848 47243855 + R DEL GTGTGCGC GTGTGCGC - TCGA-DX-A3U6-01A-11D-A29N-09 TCGA-DX-A3U6-10A-01D-A29N-09 GTGTGCGC GTGTGCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db650eff-4e2c-4ce3-9124-7697b6e03359 7536cf00-aed9-4045-94e7-e562e7ec6b34 22 47243848 47243855 GTGTGCGC - DEL ENSG00000221672 ENST00000408745 human ensembl 74_37 +1 novel rna NULL NULL 0.003:0.002:0.002:0.003:0.004:0.001:0.001:0.001 - - - no_errors Z97351.1 Clone_based_ensembl_gene ENSG00000221672 tier1 8 0 0.00 4 0 0.00 8 0 0.00 4 0 0.00 ENSG00000221704 0 genome.wustl.edu 37 2 236480576 236480577 + R INS - - TGTGTGTGTGTG TCGA-DX-A3U6-01A-11D-A29N-09 TCGA-DX-A3U6-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db650eff-4e2c-4ce3-9124-7697b6e03359 7536cf00-aed9-4045-94e7-e562e7ec6b34 2 236480576 236480577 - TGTGTGTGTGTG INS ENSG00000221704 ENST00000408777 human ensembl 74_37 +1 novel rna NULL NULL 0.083:0.055 - - - no_errors AC012305.1 Clone_based_ensembl_gene ENSG00000221704 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 POTEM 0 genome.wustl.edu 37 14 20012850 20012850 + Silent SNP A A T TCGA-DX-A3U6-01A-11D-A29N-09 TCGA-DX-A3U6-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db650eff-4e2c-4ce3-9124-7697b6e03359 7536cf00-aed9-4045-94e7-e562e7ec6b34 14 20012850 20012850 A T SNP POTEM ENST00000547722 human ensembl 74_37 -1 known silent c.906 p.P302 0.030 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 tier1 rs201036322 - 12 0 0.00 11 6 35.29 0 0 0.00 0 0 0.00 R5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + R DEL C C - TCGA-DX-A3U6-01A-11D-A29N-09 TCGA-DX-A3U6-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db650eff-4e2c-4ce3-9124-7697b6e03359 7536cf00-aed9-4045-94e7-e562e7ec6b34 Y 10037863 10037863 C - DEL R5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors R5-8SP6 HGNC ENSG00000251705 tier1 40 0 0.00 48 8 14.29 2 0 0.00 3 0 0.00 SMC6 0 genome.wustl.edu 37 2 17927101 17927101 + Missense_Mutation SNP G G A TCGA-DX-A3U6-01A-11D-A29N-09 TCGA-DX-A3U6-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db650eff-4e2c-4ce3-9124-7697b6e03359 7536cf00-aed9-4045-94e7-e562e7ec6b34 2 17927101 17927101 G A SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known missense c.113 p.T38I 0.998 NULL superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 tier1 - - 44 0 0.00 37 4 9.76 135 0 0.00 142 3 2.05