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 TCEAL6 0 genome.wustl.edu 36 X 101282827 101282827 + Missense_Mutation SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac X 101282827 101282827 C T SNP TCEAL6 NM_001006938.2 human genbank 54_36p -1 validated missense c.133 p.E45K 0.010 HMMPfam_TFA HMMPfam_TFA - no_errors 67 0 0.00 152 113 42.64 NA NA NA ALG13 0 genome.wustl.edu 36 X 110889729 110889729 + Missense_Mutation SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac X 110889729 110889729 C T SNP ALG13 ENST00000394780 human ensembl 54_36p +1 known missense c.3260 p.P1087L 0.057 NULL HMMPfam_OTU,HMMPfam_Glyco_tran_28_C,superfamily_SSF53756,superfamily_SSF54001,superfamily_SSF63748 - no_errors 74 4 5.13 60 40 40.00 24 0 0.00 SPEG 0 genome.wustl.edu 36 2 220052978 220052978 + Silent SNP G G C TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 2 220052978 220052978 G C SNP SPEG NM_005876.4 human genbank 54_36p +1 validated silent c.5214 p.R1738 0.999 HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Immunoglobulin - no_errors 134 2 1.47 36 35 49.30 NA NA NA LOC652670 0 genome.wustl.edu 36 3 75674674 75674674 + RNA SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 3 75674674 75674674 C T SNP LOC652670 XR_016285.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 62 2 3.12 27 68 71.58 0 0 0.00 SLC2A9 0 genome.wustl.edu 36 4 9607661 9607661 + Silent SNP G G A TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 4 9607661 9607661 G A SNP SLC2A9 NM_020041.1 human genbank 54_36p -1 reviewed silent c.252 p.Y84 1.000 HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1,PatternScan_SUGAR_TRANSPORT_2,superfamily_MFS general substrate transporter - no_errors 121 6 4.69 55 33 37.50 7 3 30.00 DUSP1 0 genome.wustl.edu 36 5 172128423 172128423 + Missense_Mutation SNP T T C TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 5 172128423 172128423 T C SNP DUSP1 NM_004417.2 human genbank 54_36p -1 reviewed missense c.1052 p.N351S 0.996 NULL HMMPfam_DSPc,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_Rhodanese-like,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_DSPc,superfamily_SSF52799 - no_errors 45 1 2.17 46 39 45.88 434 374 46.23 OPN5 0 genome.wustl.edu 36 6 47884004 47884004 + Silent SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 6 47884004 47884004 C T SNP OPN5 NM_181744.1 human genbank 54_36p +1 reviewed silent c.912 p.I304 1.000 HMMPfam_7tm_1,PatternScan_OPSIN,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN,superfamily_SSF81321 - no_errors 86 2 2.27 46 22 32.35 NA NA NA IMMP2L 0 genome.wustl.edu 36 7 110313941 110313941 + Missense_Mutation SNP T T C TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 7 110313941 110313941 T C SNP IMMP2L NM_032549.2 human genbank 54_36p -1 provisional missense c.352 p.I118V 1.000 superfamily_LexA/Signal peptidase,PatternScan_SPASE_I_3 superfamily_LexA/Signal peptidase,PatternScan_SPASE_I_3,HMMPfam_Peptidase_S24,PatternScan_ATPASE_ALPHA_BETA - no_errors 59 0 0.00 54 23 29.87 6 2 25.00 UBN2 0 genome.wustl.edu 36 7 138619697 138619697 + Missense_Mutation SNP A A G TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 7 138619697 138619697 A G SNP UBN2 NM_173569.2 human genbank 54_36p +1 validated missense c.3257 p.N1086S 1.000 NULL PatternScan_TUBULIN - no_errors 80 1 1.23 44 30 40.54 15 16 51.61 KCNH2 0 genome.wustl.edu 36 7 150274939 150274939 + Missense_Mutation SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 7 150274939 150274939 C T SNP KCNH2 NM_000238.2 human genbank 54_36p -1 reviewed missense c.3289 p.V1097I 0.872 NULL HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels - no_errors 25 0 0.00 23 15 39.47 0 2 100.00 OIT3 0 genome.wustl.edu 36 10 74343230 74343230 + Missense_Mutation SNP G G A TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 10 74343230 74343230 G A SNP OIT3 NM_152635.1 human genbank 54_36p +1 provisional missense c.949 p.D317N 0.436 HMMPfam_Zona_pellucida,HMMSmart_SM00241 PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 106 3 2.75 68 66 49.25 NA NA NA IKZF4 0 genome.wustl.edu 36 12 54706920 54706920 + Silent SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 12 54706920 54706920 C T SNP IKZF4 NM_022465.3 human genbank 54_36p +1 validated silent c.375 p.S125 0.437 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 85 2 2.30 61 27 30.68 4 0 0.00 SLC7A7 0 genome.wustl.edu 36 14 22312678 22312678 + Missense_Mutation SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 14 22312678 22312678 C T SNP SLC7A7 NM_003982.1 human genbank 54_36p -1 reviewed missense c.1517 p.R506Q 0.010 NULL PatternScan_AMINO_ACID_PERMEASE_1,HMMPfam_AA_permease - no_errors 193 3 1.52 117 99 45.83 39 37 48.68 QRICH2 0 genome.wustl.edu 36 17 71785833 71785833 + Missense_Mutation SNP T T A TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 17 71785833 71785833 T A SNP QRICH2 NM_032134.1 human genbank 54_36p -1 provisional missense c.4451 p.D1484V 0.303 NULL NULL - no_errors 127 1 0.76 20 8 28.57 4 1 20.00 SETBP1 0 genome.wustl.edu 36 18 40785911 40785911 + Missense_Mutation SNP G G A TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 18 40785911 40785911 G A SNP SETBP1 NM_015559.1 human genbank 54_36p +1 validated missense c.2446 p.G816S 1.000 NULL HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors 81 5 5.81 60 46 43.40 15 19 55.88 RUNX1 0 genome.wustl.edu 36 21 35174748 35174748 + Missense_Mutation SNP T T C TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 21 35174748 35174748 T C SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.484 p.R162G 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 42 0 0.00 8 16 66.67 18 327 94.78 C7 0 genome.wustl.edu 36 5 41017295 41017297 + In_Frame_Del DEL GAA GAA - TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 GAA GAA GAA - GAA GAA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 5 41017295 41017297 GAA - DEL C7 NM_000587.2 human genbank 54_36p +1 reviewed in_frame_del c.2395_2397 p.E800in_frame_del 0.054:0.080:0.095 HMMSmart_FIMAC HMMPfam_Sushi,HMMSmart_CCP,HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMSmart_FIMAC,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,superfamily_SSF57196 - no_errors 0 6 6.74 0 38 33.04 0 0 0.00