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 LRRC48 0 genome.wustl.edu 37 17 17896105 17896105 + Silent SNP C C T TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 17 17896105 17896105 C T SNP LRRC48 ENST00000313838 human ensembl 74_37 +1 known silent c.471 p.C157 0.739 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 tier1 - - 46 0 0.00 47 5 9.62 61 0 0.00 29 8 21.62 COL4A3 0 genome.wustl.edu 37 2 228104874 228104874 + Missense_Mutation SNP C C T TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 2 228104874 228104874 C T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.160 p.P54S 0.853 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 35 0 0.00 43 4 8.51 85 0 0.00 61 11 15.28 AMBRA1 0 genome.wustl.edu 37 11 46568608 46568609 + R INS - - A TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 11 46568608 46568609 - A INS AMBRA1 ENST00000524783 human ensembl 74_37 -1 known rna NULL NULL 0.032:0.881 - - - no_errors AMBRA1 HGNC ENSG00000110497 tier1 22 0 0.00 26 4 13.33 27 0 0.00 13 2 13.33 GRIP1 0 genome.wustl.edu 37 12 67072671 67072671 + Missense_Mutation SNP G G C TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 12 67072671 67072671 G C SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.14 p.S5C 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 tier1 - - 41 0 0.00 51 5 8.93 88 0 0.00 59 5 7.58 SLC13A4 0 genome.wustl.edu 37 7 135377097 135377097 + Silent SNP G G C TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 7 135377097 135377097 G C SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known silent c.1194 p.V398 0.997 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 tier1 - - 82 0 0.00 122 19 13.48 109 0 0.00 96 7 6.80 PHF23 0 genome.wustl.edu 37 17 7140765 7140765 + Missense_Mutation SNP T T C TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 17 7140765 7140765 T C SNP PHF23 ENST00000320316 human ensembl 74_37 -1 known missense c.98 p.D33G 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 tier1 - - 78 0 0.00 85 8 8.60 103 0 0.00 88 6 6.38 AMZ1 0 genome.wustl.edu 37 7 2741852 2741906 + R DEL TGTGTGCTACTCTGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTC TGTGTGCTACTCTGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTC - TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 TGTGTGCTACTCTGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTC TGTGTGCTACTCTGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 7 2741852 2741906 TGTGTGCTACTCTGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTC - DEL AMZ1 ENST00000485540 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.001:0.002:0.002:0.003:0.004:0.003:0.001:0.000:0.000:0.004:0.003:0.003:0.002:0.002:0.002:0.003:0.003:0.001:0.005:0.071:0.077:0.080:0.076:0.071:0.067:0.056:0.014:0.004:0.001:0.002:0.002:0.000:0.001:0.002:0.003:0.004:0.005:0.002:0.002:0.002:0.002:0.002:0.002:0.003:0.000:0.001:0.001:0.000:0.000:0.000:0.001:0.000:0.000 - - - no_errors AMZ1 HGNC ENSG00000174945 tier1 2 0 0.00 2 0 0.00 2 0 0.00 2 0 0.00 GAPVD1 0 genome.wustl.edu 37 9 128025963 128025989 + Splice_Site DEL CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT - TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 9 128025963 128025989 CAGCACTCCATCTGTAGGTATGTCTGT - DEL GAPVD1 ENST00000469528 human ensembl 74_37 +1 known splice_site_del c.NULL NULL 1.000:1.000:1.000:1.000:1.000:0.999:0.996:0.980:0.970:0.963:0.961:0.959:0.952:0.948:0.947:0.950:0.961:0.966:0.966:0.969:0.974:0.982:0.984:0.985:0.984:0.985:0.993 - - - no_errors GAPVD1 HGNC ENSG00000165219 tier1 0 0 0.00 1 1 50.00 0 0 0.00 1 1 50.00 PLXNB3 0 genome.wustl.edu 37 X 153033837 153033837 + Missense_Mutation SNP G G T TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 X 153033837 153033837 G T SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.1289 p.G430V 0.996 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 tier1 - - 17 0 0.00 14 4 22.22 4 0 0.00 8 0 0.00 POTEE 0 genome.wustl.edu 37 2 132022031 132022031 + Silent SNP C C T TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 2 132022031 132022031 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.3003 p.G1001 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 19 0 0.00 11 5 29.41 0 0 0.00 0 1 100.00 RCVRN 0 genome.wustl.edu 37 17 9801316 9801317 + R INS - - GTGTGTGCGC TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 17 9801316 9801317 - GTGTGTGCGC INS RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors RCVRN HGNC ENSG00000109047 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 APBA2 0 genome.wustl.edu 37 15 29393906 29393906 + Missense_Mutation SNP G G T TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 15 29393906 29393906 G T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.1443 p.Q481H 0.998 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 26 0 0.00 37 4 9.76 52 0 0.00 36 3 7.69 VRTN 0 genome.wustl.edu 37 14 74824312 74824312 + Missense_Mutation SNP C C T TCGA-QQ-A8VD-01A-42D-A38Z-09 TCGA-QQ-A8VD-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 076d23f5-8017-4f0b-b9a1-462386d9e1ed 34a49c5e-6a61-43d0-82b6-2b597c3cbab8 14 74824312 74824312 C T SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.826 p.R276C 0.846 pfam_Transposase_8 pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 tier1 - - 43 0 0.00 59 6 9.23 29 0 0.00 31 3 8.57