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 MED12 0 genome.wustl.edu 36 X 70263942 70263942 + Missense_Mutation SNP C C T rs80338758 TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 X 70263942 70263942 C T SNP MED12 NM_005120.2 human genbank 54_36p +1 validated missense c.2881 p.R961W 1.000 NULL HMMPfam_Med12 - no_errors 465 28 5.61 199 141 41.47 2 40 95.24 DIAPH2 0 genome.wustl.edu 36 X 96571382 96571382 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 X 96571382 96571382 C T SNP DIAPH2 NM_006729.4 human genbank 54_36p +1 reviewed missense c.3223 p.R1075W 1.000 NULL HMMSmart_SM00498,HMMPfam_Drf_DAD,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) - no_errors 208 9 4.09 103 86 45.26 19 0 0.00 CDK11A 0 genome.wustl.edu 36 1 1561654 1561654 + Nonsense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 1 1561654 1561654 G A SNP CDC2L2 NM_033529.2 human genbank 54_36p -1 reviewed nonsense c.1969 p.Q657* 0.978 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 30 0 0.00 27 11 28.95 47 2 4.08 GJB3 0 genome.wustl.edu 36 1 35023596 35023596 + Nonsense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 1 35023596 35023596 C T SNP GJB3 NM_001005752.1 human genbank 54_36p +1 reviewed nonsense c.646 p.R216* 0.009 NULL HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC - no_errors 64 0 0.00 66 58 46.40 NA NA NA PDC 0 genome.wustl.edu 36 1 184682217 184682217 + Missense_Mutation SNP C C A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 1 184682217 184682217 C A SNP PDC NM_002597.3 human genbank 54_36p -1 reviewed missense c.177 p.R59S 0.996 HMMPfam_Phosducin,superfamily_Thiordxn-like_fd HMMPfam_Phosducin,superfamily_Thiordxn-like_fd - no_errors 237 6 2.45 172 113 39.65 2 0 0.00 SCN1A 0 genome.wustl.edu 36 2 166609962 166609962 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 2 166609962 166609962 C T SNP SCN1A NM_006920.4 human genbank 54_36p -1 validated missense c.1499 p.R500Q 1.000 NULL HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_RIBONUCLEASE_P,superfamily_SSF81324 - no_errors 197 6 2.94 121 102 45.74 NA NA NA LOC100128936 0 genome.wustl.edu 36 3 61703497 61703497 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 3 61703497 61703497 G A SNP LOC100128936 XM_001726108.1 human genbank 54_36p -1 model missense c.74 p.A25V 1.000 HMMPfam_Ribosomal_L1,superfamily_Ribosomal protein L1 HMMPfam_Ribosomal_L1,PatternScan_RIBOSOMAL_L1,superfamily_Ribosomal protein L1 - pseudogene 114 3 2.56 105 92 46.70 1366 1 0.07 GPR78 0 genome.wustl.edu 36 4 8639798 8639798 + Silent SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 4 8639798 8639798 G A SNP GPR78 NM_080819.2 human genbank 54_36p +1 validated silent c.900 p.P300 1.000 superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like - no_errors 56 3 5.08 19 26 56.52 NA NA NA COL12A1 0 genome.wustl.edu 36 6 75880038 75880038 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 6 75880038 75880038 G A SNP COL12A1 NM_004370.5 human genbank 54_36p -1 reviewed missense c.7840 p.P2614S 1.000 HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like - no_errors 180 8 4.23 134 99 42.49 NA NA NA BAIAP2L1 0 genome.wustl.edu 36 7 97774983 97774983 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 7 97774983 97774983 C T SNP BAIAP2L1 NM_018842.3 human genbank 54_36p -1 provisional missense c.1117 p.E373K 0.993 HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2 HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2,HMMPfam_IMD - no_errors 146 0 0.00 131 20 13.07 1 0 0.00 SLC7A13 0 genome.wustl.edu 36 8 87311171 87311171 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 8 87311171 87311171 C T SNP SLC7A13 NM_138817.2 human genbank 54_36p -1 validated missense c.452 p.R151H 0.114 NULL HMMPfam_AA_permease - no_errors 173 0 0.00 170 43 20.09 NA NA NA C9orf174 0 genome.wustl.edu 36 9 99124969 99124969 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 9 99124969 99124969 G A SNP KIAA1529 NM_020893.1 human genbank 54_36p +1 predicted missense c.1742 p.R581H 0.998 NULL NULL - no_errors 130 1 0.76 128 30 18.40 3 2 40.00 LTBP3 0 genome.wustl.edu 36 11 65077003 65077003 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 11 65077003 65077003 C T SNP LTBP3 NM_021070.1 human genbank 54_36p -1 validated missense c.1090 p.V364M 1.000 HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_TB,superfamily_Fibril-assoc,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 - no_errors 200 7 3.35 61 45 42.45 19 12 38.71 KRAS 0 genome.wustl.edu 36 12 25289478 25289478 + Missense_Mutation SNP T T C TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 12 25289478 25289478 T C SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.108 p.I36M 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 45 1 2.17 27 41 60.29 2 33 94.29 DBX2 0 genome.wustl.edu 36 12 43696557 43696557 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 12 43696557 43696557 G A SNP DBX2 NM_001004329.2 human genbank 54_36p -1 validated missense c.799 p.R267W 0.001 NULL HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 - no_errors 182 5 2.66 81 131 61.50 NA NA NA SETBP1 0 genome.wustl.edu 36 18 40785905 40785905 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 18 40785905 40785905 G A SNP SETBP1 NM_015559.1 human genbank 54_36p +1 validated missense c.2440 p.D814N 1.000 NULL HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors 149 6 3.85 100 102 50.25 20 19 48.72 OR7D4 0 genome.wustl.edu 36 19 9185994 9185994 + Missense_Mutation SNP T T A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 19 9185994 9185994 T A SNP OR7D4 NM_001005191.1 human genbank 54_36p -1 provisional missense c.520 p.I174F 0.000 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 235 11 4.42 197 177 47.20 NA NA NA