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 LOC646346 0 genome.wustl.edu 36 X 26615585 26615585 + RNA SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 X 26615585 26615585 G A SNP LOC646346 XR_017105.2 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene 44 0 0.00 112 29 20.57 NA NA NA KLHL12 0 genome.wustl.edu 36 1 201130363 201130363 + Missense_Mutation SNP T T G TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 1 201130363 201130363 T G SNP KLHL12 NM_021633.2 human genbank 54_36p -1 provisional missense c.1273 p.S425R 1.000 HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central HMMSmart_BTB,HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central,superfamily_BTB/POZ_fold,HMMPfam_BACK,HMMPfam_BTB - no_errors 27 0 0.00 56 59 51.30 3 2 40.00 DNMT3A 0 genome.wustl.edu 36 2 25313378 25313378 + Missense_Mutation SNP C C G TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 2 25313378 25313378 C G SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2409 p.R803S 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases 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 24 1 4.00 24 14 36.84 16 5 23.81 TRPM8 0 genome.wustl.edu 36 2 234510743 234510743 + Missense_Mutation SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 2 234510743 234510743 G A SNP TRPM8 NM_024080.4 human genbank 54_36p +1 validated missense c.199 p.V67M 0.006 NULL HMMPfam_Ion_trans - no_errors 28 0 0.00 65 63 49.22 NA NA NA MAPK9 0 genome.wustl.edu 36 5 179608667 179608667 + Silent SNP C C T TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 5 179608667 179608667 C T SNP MAPK9 NM_002752.1 human genbank 54_36p -1 reviewed silent c.528 p.A176 0.606 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase - no_errors 22 0 0.00 45 49 52.13 22 26 54.17 MEA1 0 genome.wustl.edu 36 6 43089041 43089041 + Silent SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 6 43089041 43089041 G A SNP MEA1 NM_014623.2 human genbank 54_36p -1 validated silent c.93 p.P31 0.997 HMMPfam_MEA1 HMMPfam_MEA1 - no_errors 125 0 0.00 73 55 42.64 16 6 26.09 FBXO30 0 genome.wustl.edu 36 6 146167649 146167649 + Missense_Mutation SNP C C T TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 6 146167649 146167649 C T SNP FBXO30 NM_032145.4 human genbank 54_36p -1 reviewed missense c.1586 p.R529K 1.000 NULL HMMPfam_F-box,HMMSmart_FBOX,superfamily_Traf_like,superfamily_SSF81383 - no_errors 54 1 1.79 97 80 45.20 16 6 27.27 PSD3 0 genome.wustl.edu 36 8 18769577 18769577 + Silent SNP C C G TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 8 18769577 18769577 C G SNP PSD3 NM_015310.3 human genbank 54_36p -1 validated silent c.1521 p.V507 0.111 NULL HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 - no_errors 77 0 0.00 102 79 43.65 2 1 33.33 LOC646609 0 genome.wustl.edu 36 9 22738240 22738240 + RNA SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 9 22738240 22738240 G A SNP LOC646609 XR_037907.1 human genbank 54_36p +1 model rna NULL NULL 0.042 - - - pseudogene 31 0 0.00 77 74 48.68 NA NA NA C5 0 genome.wustl.edu 36 9 122764816 122764816 + Silent SNP C C A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 9 122764816 122764816 C A SNP C5 NM_001735.2 human genbank 54_36p -1 reviewed silent c.4458 p.G1486 0.995 HMMPfam_A2M_recep,superfamily_AM_receptor_bind 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 54 1 1.82 82 57 41.01 4 6 60.00 PIPSL 0 genome.wustl.edu 36 10 95710248 95710248 + Missense_Mutation SNP C C G TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 10 95710248 95710248 C G SNP PIPSL ENST00000340582 human ensembl 54_36p -1 known missense c.896 p.R299T 0.156 HMMPfam_PIP5K,HMMSmart_PIPKc,superfamily_SSF56104 HMMSmart_VWA,HMMPfam_PIP5K,HMMPfam_UIM,HMMSmart_PIPKc,superfamily_SSF53300,superfamily_SSF56104 - no_errors 31 0 0.00 59 51 45.95 34 0 0.00 HPS5 0 genome.wustl.edu 36 11 18271034 18271034 + Missense_Mutation SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 11 18271034 18271034 G A SNP HPS5 NM_181507.3 human genbank 54_36p -1 reviewed missense c.1850 p.T617I 1.000 NULL superfamily_WD40 repeat-like - no_errors 30 0 0.00 81 65 44.52 11 8 42.11 FLT3 0 genome.wustl.edu 36 13 27490642 27490642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,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 41 0 0.00 71 57 44.53 141 104 42.45 LOC647211 0 genome.wustl.edu 36 16 33332554 33332554 + RNA SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 16 33332554 33332554 G A SNP LOC647211 XR_017499.2 human genbank 54_36p +1 model rna NULL NULL 0.001 - - - pseudogene 153 0 0.00 330 46 12.23 NA NA NA NPM1 0 genome.wustl.edu 36 5 170770148 170770149 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 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 RAD21 0 genome.wustl.edu 36 8 117944678 117944679 + Frame_Shift_Ins INS - - C TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 8 117944678 117944679 - C INS RAD21 NM_006265.2 human genbank 54_36p -1 reviewed frame_shift_ins c.146_145 p.V49fs 1.000:1.000 HMMPfam_Rad21_Rec8_N HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N - no_errors 33 0 0.00 86 77 47.24 11 0 0.00