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 RERE 0 genome.wustl.edu 36 1 8448659 8448659 + Silent SNP G G A TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 1 8448659 8448659 G A SNP RERE NM_001042681.1 human genbank 54_36p -1 reviewed silent c.1116 p.S372 0.989 NULL HMMPfam_GATA,HMMSmart_SM00401,HMMPfam_ELM2,HMMSmart_SM00717,HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_Atrophin-1,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors 75 7 8.54 134 96 40.68 28 30 51.72 ABCA4 0 genome.wustl.edu 36 1 94263182 94263182 + Missense_Mutation SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 1 94263182 94263182 C T SNP ABCA4 NM_000350.2 human genbank 54_36p -1 reviewed missense c.4550 p.R1517H 0.994 NULL HMMPfam_ABC_tran,HMMSmart_AAA,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540 - no_errors 203 9 4.23 197 122 38.12 NA NA NA DNMT3A 0 genome.wustl.edu 36 2 25322414 25322414 + Nonsense_Mutation SNP G G A TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 2 25322414 25322414 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed nonsense c.1453 p.Q485* 1.000 NULL HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 16 1 5.88 44 46 51.11 37 15 28.85 PAX3 0 genome.wustl.edu 36 2 222794334 222794334 + Missense_Mutation SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 2 222794334 222794334 C T SNP PAX3 NM_181459.4 human genbank 54_36p -1 reviewed missense c.809 p.R270H 1.000 HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_PAX,HMMSmart_SM00351,PatternScan_PAIRED_1,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 - no_errors 57 3 5.00 115 62 34.83 NA NA NA ENPEP 0 genome.wustl.edu 36 4 111617157 111617157 + Silent SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 4 111617157 111617157 C T SNP ENPEP NM_001977.3 human genbank 54_36p +1 validated silent c.138 p.S46 0.000 NULL "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain,superfamily_Leukotriene A4 hydrolase N-terminal domain" - no_errors 57 10 14.93 117 106 47.32 NA NA NA GPM6A 0 genome.wustl.edu 36 4 176810076 176810076 + Silent SNP G G A TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 4 176810076 176810076 G A SNP GPM6A NM_005277.3 human genbank 54_36p -1 validated silent c.444 p.T148 1.000 HMMPfam_Myelin_PLP HMMPfam_Myelin_PLP,HMMSmart_SM00002,PatternScan_MYELIN_PLP_1,PatternScan_MYELIN_PLP_2 - no_errors 14 0 0.00 56 49 46.23 NA NA NA ATP10B 0 genome.wustl.edu 36 5 159958378 159958378 + Missense_Mutation SNP A A G TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 5 159958378 159958378 A G SNP ATP10B NM_025153.2 human genbank 54_36p -1 validated missense c.3541 p.Y1181H 0.993 NULL HMMPfam_E1-E2_ATPase,HMMPfam_Hydrolase_3,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors 57 3 5.00 181 119 38.89 NA NA NA LOC728843 0 genome.wustl.edu 36 5 165388861 165388861 + RNA SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 5 165388861 165388861 C T SNP LOC728843 XR_015391.1 human genbank 54_36p -1 model rna NULL NULL 0.997 - - - pseudogene 91 8 8.08 148 126 45.32 NA NA NA LOC642943 0 genome.wustl.edu 36 9 94687368 94687368 + RNA SNP A A G TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 9 94687368 94687368 A G SNP LOC642943 XR_039168.1 human genbank 54_36p +1 model rna NULL NULL 0.127 - - - pseudogene 73 4 5.13 148 78 34.06 NA NA NA C5 0 genome.wustl.edu 36 9 122772344 122772344 + Missense_Mutation SNP T T G TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 9 122772344 122772344 T G SNP C5 NM_001735.2 human genbank 54_36p -1 reviewed missense c.4087 p.T1363P 0.204 NULL HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terp_cyc_toroid,HMMPfam_A2M_recep,superfamily_AM_receptor_bind,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,superfamily_Anaphylatoxin,HMMPfam_NTR,HMMSmart_C345C,PatternScan_ALPHA_2_MACROGLOBULIN - no_errors 113 9 7.38 288 206 41.45 3 2 40.00 CDH23 0 genome.wustl.edu 36 10 73131787 73131787 + Silent SNP G G T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 10 73131787 73131787 G T SNP CDH23 NM_022124.4 human genbank 54_36p +1 reviewed silent c.2400 p.V800 1.000 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like - no_errors 13 1 7.14 32 12 26.67 2 1 33.33 SEMA6D 0 genome.wustl.edu 36 15 45843351 45843351 + Missense_Mutation SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 15 45843351 45843351 C T SNP SEMA6D NM_153618.1 human genbank 54_36p +1 reviewed missense c.760 p.R254C 1.000 HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat - no_errors 213 8 3.62 296 177 37.03 NA NA NA NFKBIZ 0 genome.wustl.edu 36 3 103058719 103058720 + Splice_Site INS - - ACTTTTAGAAAGCTTTAATAACC rs33981747 TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 - - - ACTTTTAGAAAGCTTTAATAACC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 3 103058719 103058720 - ACTTTTAGAAAGCTTTAATAACC INS NFKBIZ NM_031419.1 human genbank 54_36p +1 reviewed splice_site_ins c.1935+2_1935+1 e10+2 0.997:0.000 - - - no_errors NA NA NA NA NA NA NA NA NA NPM1 0 genome.wustl.edu 36 5 170770149 170770150 + Frame_Shift_Ins INS - - CTGC TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 - - - CTGC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 5 170770149 170770150 - CTGC INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.860_861 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA FLT3 0 genome.wustl.edu 36 13 27506253 27506254 + In_Frame_Ins INS - - GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 - - - GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 13 27506253 27506254 - GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1803_1802 p.602in_frame_insQMGVSKRKFRVWRI*I*S 0.998:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA