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 NormalRefReads_WU NormalVarReads_WU NormalVAF_WU TumorRefReads_WU TumorVarReads_WU TumorVAF_WU RNARefReads_WU RNAVarReads_WU RNAVAF_WU ENSG00000223073 0 genome.wustl.edu 36 MT 530 530 + RNA SNP T T C TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 MT 530 530 T C SNP ENSG00000223073 ENST00000411141 human ensembl 54_36p +1 novel rna NULL NULL NULL - - - no_errors 680 5 0.73 292 2998 90.41 NA NA NA MT-ND4 0 genome.wustl.edu 36 MT 11810 11810 + Silent SNP T T C TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 MT 11810 11810 T C SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known silent c.1050 p.T350 NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region 1256 8 0.63 429 5303 91.53 NA NA NA PCDH19 0 genome.wustl.edu 36 X 99549148 99549148 + Silent SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 X 99549148 99549148 G A SNP PCDH19 NM_001105243.1 human genbank 54_36p -1 validated silent c.1104 p.I368 0.920 HMMPfam_Cadherin,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 7 0 0.00 21 6 22.22 NA NA NA RGAG1 0 genome.wustl.edu 36 X 109583735 109583735 + Silent SNP C C A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 X 109583735 109583735 C A SNP RGAG1 NM_020769.1 human genbank 54_36p +1 provisional silent c.3234 p.G1078 0.000 NULL HMMPfam_Retrotrans_gag - no_errors 31 0 0.00 103 75 42.13 NA NA NA HSPG2 0 genome.wustl.edu 36 1 22051263 22051263 + Missense_Mutation SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 1 22051263 22051263 C T SNP HSPG2 NM_005529.5 human genbank 54_36p -1 validated missense c.6775 p.G2259S 0.999 HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_I-set,superfamily_Immunoglobulin HMMPfam_Laminin_B,HMMPfam_SEA,HMMSmart_SM00200,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMSmart_SM00281,superfamily_Immunoglobulin,superfamily_EGF/Laminin - no_errors 14 0 0.00 45 38 44.71 41 22 34.92 RGL1 0 genome.wustl.edu 36 1 182161933 182161933 + Missense_Mutation SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 1 182161933 182161933 C T SNP RGL1 NM_015149.3 human genbank 54_36p +1 validated missense c.2296 p.R766C 1.000 HMMPfam_RA,HMMSmart_SM00314,superfamily_Ubiquitin-like HMMPfam_RA,HMMSmart_SM00314,HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF,superfamily_Ubiquitin-like - no_errors 53 0 0.00 149 101 40.08 6 0 0.00 MSH6 0 genome.wustl.edu 36 2 47881044 47881044 + Silent SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 2 47881044 47881044 C T SNP MSH6 NM_000179.2 human genbank 54_36p +1 reviewed silent c.2418 p.S806 0.392 HMMPfam_MutS_III,HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_MutS_V,HMMSmart_SM00534,PatternScan_DNA_MISMATCH_REPAIR_2,HMMPfam_MutS_I,HMMPfam_MutS_III,HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III,HMMPfam_MutS_II,HMMPfam_MutS_IV,superfamily_DNA repair protein MutS domain I,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Tudor/PWWP/MBT - no_errors 59 0 0.00 169 132 43.56 44 79 64.23 EHHADH 0 genome.wustl.edu 36 3 186393047 186393047 + Silent SNP T T C TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 3 186393047 186393047 T C SNP EHHADH NM_001966.2 human genbank 54_36p -1 validated silent c.1833 p.P611 0.013 superfamily_6DGDH_C_like HMMPfam_ECH,HMMPfam_3HCDH,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6DGDH_C_like,superfamily_NAD(P)-bd,PatternScan_ENOYL_COA_HYDRATASE,superfamily_SSF52096 - no_errors 67 0 0.00 161 92 35.38 13 9 40.91 TRA2B 0 genome.wustl.edu 36 3 187125967 187125967 + Silent SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 3 187125967 187125967 G A SNP TRA2B NM_004593.2 human genbank 54_36p -1 validated silent c.312 p.R104 1.000 superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 43 0 0.00 116 87 42.65 214 226 51.36 KIT 0 genome.wustl.edu 36 4 55284528 55284528 + Missense_Mutation SNP A A C TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 4 55284528 55284528 A C SNP KIT NM_000222.2 human genbank 54_36p +1 reviewed missense c.1253 p.Y418S 0.002 NULL HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 30 0 0.00 104 42 28.00 176 0 0.00 PCDHB3 0 genome.wustl.edu 36 5 140461079 140461079 + Missense_Mutation SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 5 140461079 140461079 C T SNP PCDHB3 NM_018937.2 human genbank 54_36p +1 reviewed missense c.662 p.P221L 0.028 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 19 0 0.00 62 30 32.26 NA NA NA HDAC3 0 genome.wustl.edu 36 5 140989468 140989468 + Missense_Mutation SNP T T C TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 5 140989468 140989468 T C SNP HDAC3 NM_003883.3 human genbank 54_36p -1 reviewed missense c.443 p.N148S 1.000 HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase - no_errors 82 0 0.00 87 66 42.31 31 16 34.04 PDGFRB 0 genome.wustl.edu 36 5 149484585 149484585 + Missense_Mutation SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 5 149484585 149484585 G A SNP PDGFRB NM_002609.3 human genbank 54_36p -1 reviewed missense c.1810 p.R604C 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 12 0 0.00 34 19 35.19 7 4 36.36 ADAM19 0 genome.wustl.edu 36 5 156852676 156852676 + Missense_Mutation SNP G G T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 5 156852676 156852676 G T SNP ADAM19 NM_023038.3 human genbank 54_36p -1 reviewed missense c.1795 p.H599N 0.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 38 0 0.00 178 96 34.66 3 0 0.00 HYAL4 0 genome.wustl.edu 36 7 123296322 123296322 + Missense_Mutation SNP C C G TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 7 123296322 123296322 C G SNP HYAL4 NM_012269.2 human genbank 54_36p +1 reviewed missense c.759 p.N253K 0.993 HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat HMMPfam_Glyco_hydro_56,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Glyco_hydro_cat - no_errors 52 0 0.00 129 79 37.80 NA NA NA PRUNE2 0 genome.wustl.edu 36 9 78510558 78510558 + Missense_Mutation SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 9 78510558 78510558 C T SNP PRUNE2 ENST00000376718 human ensembl 54_36p -1 known missense c.5375 p.R1792Q 0.001 NULL HMMSmart_SM00516,superfamily_CRAL/TRIO domain,superfamily_Ferritin-like - no_errors 35 0 0.00 126 52 29.05 NA NA NA LOC400011 0 genome.wustl.edu 36 12 16444150 16444150 + RNA SNP G G T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 12 16444150 16444150 G T SNP LOC400011 XR_016968.2 human genbank 54_36p -1 model rna NULL NULL 0.986 - - - pseudogene 59 0 0.00 159 96 37.50 87 0 0.00 LOC727895 0 genome.wustl.edu 36 13 18855134 18855134 + Missense_Mutation SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 13 18855134 18855134 G A SNP LOC727895 XM_001125866.2 human genbank 54_36p +1 model missense c.523 p.A175T 0.758 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors 16 0 0.00 79 48 36.92 4 0 0.00 POSTN 0 genome.wustl.edu 36 13 37054628 37054628 + Missense_Mutation SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 13 37054628 37054628 G A SNP POSTN NM_006475.1 human genbank 54_36p -1 validated missense c.1267 p.R423C 1.000 HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain,HMMPfam_EMI - no_errors 44 0 0.00 94 54 35.76 NA NA NA DSCAM 0 genome.wustl.edu 36 21 40569957 40569957 + Missense_Mutation SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 21 40569957 40569957 G A SNP DSCAM NM_001389.3 human genbank 54_36p -1 validated missense c.2293 p.L765F 1.000 HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 27 0 0.00 68 41 37.27 NA NA NA