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 TKTL1 0 genome.wustl.edu 36 X 153211088 153211088 + Silent SNP C C T TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 X 153211088 153211088 C T SNP TKTL1 NM_012253.1 human genbank 54_36p +1 validated silent c.1647 p.A549 0.915 HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like,superfamily_Thiamin diphosphate-binding fold (THDP-binding) - no_errors 602 17 2.75 308 215 41.11 0 0 0.00 GUCA2A 0 genome.wustl.edu 36 1 42401777 42401777 + Missense_Mutation SNP A A G TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 1 42401777 42401777 A G SNP GUCA2A NM_033553.2 human genbank 54_36p -1 validated missense c.167 p.F56S 0.000 HMMPfam_Guanylin,superfamily_Proguanylin HMMPfam_Guanylin,superfamily_Proguanylin,PatternScan_2FE2S_FER_1 - no_errors 246 3 1.20 150 109 42.08 0 0 0.00 DNMT3A 0 genome.wustl.edu 36 2 25310665 25310665 + Missense_Mutation SNP A A C TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 2 25310665 25310665 A C SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2726 p.F909C 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 703 21 2.90 329 274 45.44 54 41 43.16 SLC17A3 0 genome.wustl.edu 36 6 25958309 25958309 + Missense_Mutation SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 6 25958309 25958309 G A SNP SLC17A3 NM_001098486.1 human genbank 54_36p -1 validated missense c.1069 p.L357F 1.000 HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter - no_errors 810 29 3.45 762 619 44.82 0 0 0.00 LRWD1 0 genome.wustl.edu 36 7 101893698 101893698 + Missense_Mutation SNP C C A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 7 101893698 101893698 C A SNP LRWD1 NM_152892.1 human genbank 54_36p +1 provisional missense c.408 p.N136K 0.923 superfamily_SSF52058 HMMPfam_LRR_1,HMMSmart_WD40,HMMSmart_LRR_TYP,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_SSF52058 - no_errors 194 2 1.02 110 95 46.34 12 19 61.29 BAAT 0 genome.wustl.edu 36 9 103164661 103164661 + Missense_Mutation SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 9 103164661 103164661 G A SNP BAAT NM_001701.1 human genbank 54_36p -1 reviewed missense c.1127 p.T376M 0.000 HMMPfam_BAAT_C,superfamily_SSF53474 HMMPfam_Bile_Hydr_Trans,HMMPfam_BAAT_C,superfamily_SSF53474 - no_errors 757 20 2.57 641 600 48.35 0 0 0.00 MUC5B 0 genome.wustl.edu 36 11 1226345 1226345 + Missense_Mutation SNP C C A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 11 1226345 1226345 C A SNP MUC5B NM_002458.1 human genbank 54_36p +1 validated missense c.11668 p.P3890T 0.000 NULL HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL - no_errors 4 1 20.00 8 12 60.00 0 0 0.00 MUC5B 0 genome.wustl.edu 36 11 1228728 1228728 + Missense_Mutation SNP C C T TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 11 1228728 1228728 C T SNP MUC5B NM_002458.1 human genbank 54_36p +1 validated missense c.14051 p.T4684I 0.023 NULL HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL - no_errors 3 0 0.00 0 1 100.00 0 0 0.00 SCEL 0 genome.wustl.edu 36 13 77114864 77114864 + Missense_Mutation SNP T T C TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 13 77114864 77114864 T C SNP SCEL NM_144777.2 human genbank 54_36p +1 reviewed missense c.1970 p.L657S 1.000 HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1 HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1 - no_errors 467 17 3.51 72 449 86.18 0 0 0.00 ANG 0 genome.wustl.edu 36 14 20231582 20231582 + Missense_Mutation SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 14 20231582 20231582 G A SNP ANG NM_001097577.2 human genbank 54_36p +1 reviewed missense c.19 p.V7I 0.001 NULL HMMPfam_RnaseA,HMMSmart_SM00092,PatternScan_RNASE_PANCREATIC,superfamily_RNase A-like - no_errors 551 5 0.90 346 314 47.43 0 0 0.00 SPTBN5 0 genome.wustl.edu 36 15 39955685 39955685 + Silent SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 15 39955685 39955685 G A SNP SPTBN5 NM_016642.2 human genbank 54_36p -1 validated silent c.4041 p.N1347 0.001 HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like - no_errors 194 7 3.48 105 102 49.28 0 0 0.00 PKD1L3 0 genome.wustl.edu 36 16 70573608 70573608 + Silent SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 16 70573608 70573608 G A SNP PKD1L3 ENST00000335106 human ensembl 54_36p -1 known silent c.994 p.L332 0.720 NULL HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Ion_trans,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),superfamily_C-type lectin-like - no_errors 599 14 2.28 323 309 48.74 0 1 100.00 ABCA10 0 genome.wustl.edu 36 17 64682512 64682512 + Missense_Mutation SNP T T C TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 17 64682512 64682512 T C SNP ABCA10 NM_080282.3 human genbank 54_36p -1 reviewed missense c.2879 p.K960R 0.597 NULL HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 461 7 1.50 363 305 45.66 0 0 0.00 MYH14 0 genome.wustl.edu 36 19 55475196 55475196 + Missense_Mutation SNP C C G TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 19 55475196 55475196 C G SNP MYH14 NM_001077186.1 human genbank 54_36p +1 reviewed missense c.4024 p.L1342V 1.000 HMMPfam_Myosin_tail_1 HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 896 31 3.34 317 293 47.95 0 0 0.00 CDH4 0 genome.wustl.edu 36 20 59752224 59752224 + Missense_Mutation SNP C C T TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 20 59752224 59752224 C T SNP CDH4 NM_001794.2 human genbank 54_36p +1 reviewed missense c.380 p.P127L 0.000 superfamily_Cadherin HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_pro,superfamily_Cadherin - no_errors 289 6 2.03 131 121 48.02 0 0 0.00 LOC400879 0 genome.wustl.edu 36 22 14537982 14537982 + RNA SNP G G T TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 22 14537982 14537982 G T SNP LOC400879 XR_041650.1 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors 4 2 33.33 4 0 0.00 0 0 0.00 NEFH 0 genome.wustl.edu 36 22 28215618 28215618 + Silent SNP T T A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 22 28215618 28215618 T A SNP NEFH NM_021076.3 human genbank 54_36p +1 reviewed silent c.1989 p.P663 0.041 NULL HMMPfam_DUF1388,HMMPfam_Filament,PatternScan_IF - no_errors 375 1 0.26 528 121 18.33 4 0 0.00 NPM1 0 genome.wustl.edu 36 5 170770152 170770153 + Frame_Shift_Ins INS - - CATG TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 - - - CATG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 5 170770152 170770153 - CATG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 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 27506214 27506215 + In_Frame_Ins INS - - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 - - - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 13 27506214 27506215 - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins in_frame_ins 0.779:0.796 - - - no_errors NA NA NA NA NA NA NA NA NA