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 MT-CO1 0 genome.wustl.edu 36 MT 7207 7207 + Nonsense_Mutation SNP G G A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b MT 7207 7207 G A SNP MT-CO1 ENST00000361624 human ensembl 54_36p +1 known nonsense c.1303 p.G435* NULL HMMPfam_COX1,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^I-like HMMPfam_COX1,PatternScan_COX1_CUB,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^I-like - no_stop_codon 1385 1 0.07 3582 968 21.12 NA NA NA CACNA1S 0 genome.wustl.edu 36 1 199321250 199321250 + Missense_Mutation SNP G G A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 1 199321250 199321250 G A SNP CACNA1S NM_000069.2 human genbank 54_36p -1 reviewed missense c.1087 p.L363F 1.000 NULL HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_SSF81324 - no_errors 90 0 0.00 107 61 36.09 NA NA NA LMOD1 0 genome.wustl.edu 36 1 200181928 200181928 + Missense_Mutation SNP G G A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 1 200181928 200181928 G A SNP LMOD1 ENST00000367288 human ensembl 54_36p -1 known missense c.164 p.T55M 1.000 HMMPfam_Tropomodulin HMMPfam_WH2,HMMPfam_Tropomodulin,superfamily_SSF52047 - no_errors 94 0 0.00 99 78 43.58 NA NA NA RPL32 0 genome.wustl.edu 36 3 12855994 12855994 + Missense_Mutation SNP C C A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 3 12855994 12855994 C A SNP RPL32 NM_000994.3 human genbank 54_36p -1 reviewed missense c.132 p.R44S 1.000 HMMPfam_Ribosomal_L32e,superfamily_Ribosomal protein L32e HMMPfam_Ribosomal_L32e,superfamily_Ribosomal protein L32e,PatternScan_RIBOSOMAL_L32E - no_errors 84 0 0.00 64 56 46.28 1244 1394 52.68 CC2D2A 0 genome.wustl.edu 36 4 15178450 15178450 + Missense_Mutation SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 4 15178450 15178450 C T SNP CC2D2A NM_001080522.2 human genbank 54_36p +1 validated missense c.3341 p.T1114M 0.971 HMMSmart_C2 HMMSmart_C2 - no_errors 123 0 0.00 102 68 39.53 NA NA NA LNX1 0 genome.wustl.edu 36 4 54069006 54069006 + Missense_Mutation SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 4 54069006 54069006 C T SNP LNX1 NM_032622.1 human genbank 54_36p -1 reviewed missense c.238 p.E80K 0.988 NULL HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ - no_errors 89 2 2.17 97 95 49.22 NA NA NA FNIP2 0 genome.wustl.edu 36 4 159974210 159974210 + Missense_Mutation SNP G G A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 4 159974210 159974210 G A SNP FNIP2 NM_020840.1 human genbank 54_36p +1 validated missense c.635 p.C212Y 0.998 NULL NULL - no_errors 186 0 0.00 145 87 36.86 2 1 33.33 POU5F1 0 genome.wustl.edu 36 6 31240983 31240983 + Missense_Mutation SNP G G T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 6 31240983 31240983 G T SNP POU5F1 NM_002701.4 human genbank 54_36p -1 validated missense c.717 p.N239K 0.995 HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,PatternScan_POU_2,HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1 - no_errors 191 0 0.00 136 106 43.44 1 3 75.00 POM121C 0 genome.wustl.edu 36 7 74889409 74889409 + Missense_Mutation SNP C C G TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 7 74889409 74889409 C G SNP POM121C NM_001099415.1 human genbank 54_36p -1 validated missense c.2062 p.G688R 0.135 NULL NULL - no_errors 7 0 0.00 9 1 10.00 13 0 0.00 TAS2R38 0 genome.wustl.edu 36 7 141319023 141319023 + Silent SNP C C G TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 7 141319023 141319023 C G SNP TAS2R38 NM_176817.3 human genbank 54_36p -1 validated silent c.936 p.L312 0.001 HMMPfam_TAS2R,superfamily_SSF81321 HMMPfam_TAS2R,superfamily_SSF81321 - no_errors 74 0 0.00 81 61 42.07 NA NA NA C7orf29 0 genome.wustl.edu 36 7 149658979 149658979 + Silent SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 7 149658979 149658979 C T SNP C7orf29 NM_138434.2 human genbank 54_36p +1 validated silent c.553 p.L185 0.015 NULL NULL - no_errors 23 0 0.00 44 18 29.03 1 0 0.00 LOC100133234 0 genome.wustl.edu 36 8 56529203 56529203 + RNA SNP A A G TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 8 56529203 56529203 A G SNP LOC100133234 XR_038021.1 human genbank 54_36p -1 model rna NULL NULL 0.803 - - - pseudogene 25 0 0.00 28 12 30.00 NA NA NA TRIM48 0 genome.wustl.edu 36 11 54789725 54789725 + Missense_Mutation SNP C C A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 11 54789725 54789725 C A SNP TRIM48 NM_024114.3 human genbank 54_36p +1 validated missense c.485 p.T162N 0.000 NULL HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850 - no_errors 24 0 0.00 44 26 37.14 NA NA NA TUBA1A 0 genome.wustl.edu 36 12 47865247 47865247 + Missense_Mutation SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 12 47865247 47865247 C T SNP TUBA1A NM_006009.2 human genbank 54_36p -1 reviewed missense c.1169 p.R390H 1.000 superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like - no_errors 98 0 0.00 148 43 22.40 167 34 16.92 RYR3 0 genome.wustl.edu 36 15 31835807 31835807 + Missense_Mutation SNP G G A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 15 31835807 31835807 G A SNP RYR3 NM_001036.3 human genbank 54_36p +1 validated missense c.8524 p.V2842I 1.000 NULL HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand - no_errors 122 0 0.00 107 70 39.55 NA NA NA FSD2 0 genome.wustl.edu 36 15 81252794 81252794 + Missense_Mutation SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 15 81252794 81252794 C T SNP FSD2 NM_001007122.2 human genbank 54_36p -1 provisional missense c.403 p.G135R 0.000 NULL HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like - no_errors 75 0 0.00 68 70 50.72 NA NA NA PEX13 0 genome.wustl.edu 36 2 61112441 61112441 + Frame_Shift_Del DEL G G - TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 2 61112441 61112441 G - DEL PEX13 NM_002618.3 human genbank 54_36p +1 reviewed frame_shift_del c.476 p.A160fs 1.000 HMMPfam_Peroxin-13_N HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Peroxin-13_N - no_errors 158 0 0.00 113 93 43.46 3 0 0.00 LOC643342 0 genome.wustl.edu 36 9 97095390 97095391 + RNA DEL TG TG - TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 TG TG TG - TG TG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 9 97095390 97095391 TG - DEL LOC643342 XR_016301.2 human genbank 54_36p +1 model rna NULL NULL 0.996:0.998 - - - pseudogene 0 0 0.00 0 15 14.29 0 0 0.00