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 TCEAL3 0 genome.wustl.edu 36 X 102751098 102751098 + Silent SNP A A G TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea X 102751098 102751098 A G SNP TCEAL3 NM_001006933.1 human genbank 54_36p +1 reviewed silent c.450 p.Q150 1.000 HMMPfam_TFA HMMPfam_TFA - no_errors 839 161 16.02 393 160 28.83 16 0 0.00 CLCN6 0 genome.wustl.edu 36 1 11820095 11820095 + Missense_Mutation SNP G G C TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 1 11820095 11820095 G C SNP CLCN6 NM_001286.2 human genbank 54_36p +1 reviewed missense c.2247 p.Q749H 1.000 HMMPfam_CBS HMMPfam_CBS,HMMSmart_SM00116,HMMPfam_Voltage_CLC,superfamily_Clc chloride channel,superfamily_CBS-domain - no_errors 1118 263 19.03 469 534 53.13 20 14 41.18 DYSF 0 genome.wustl.edu 36 2 71648884 71648884 + Silent SNP C C T TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 2 71648884 71648884 C T SNP DYSF NM_003494.1 human genbank 54_36p +1 reviewed silent c.2718 p.D906 0.981 HMMSmart_SM00693 HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI - no_errors 1456 383 20.76 379 319 45.64 17 16 48.48 LOC344875 0 genome.wustl.edu 36 3 15181516 15181516 + Missense_Mutation SNP C C A TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 3 15181516 15181516 C A SNP LOC344875 XM_497913.1 human genbank 54_36p -1 model missense c.2954 p.C985F 1.000 HMMSmart_SM00327,superfamily_vWA-like HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like - no_errors 1399 351 20.01 669 546 44.94 NA NA NA CEBPA 0 genome.wustl.edu 36 19 38484986 38484986 + Nonsense_Mutation SNP C C A TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 19 38484986 38484986 C A SNP CEBPA NM_004364.3 human genbank 54_36p -1 reviewed nonsense c.175 p.E59* 1.000 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 1 100.00 1 0 0.00 177 231 56.20 CEBPA 0 genome.wustl.edu 36 19 38484230 38484231 + In_Frame_Ins INS - - CCA TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 - - - CCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 19 38484230 38484231 - CCA INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed in_frame_ins c.931_930 p.310in_frame_insW 1.000:1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 110 21 16.03 76 51 40.16 327 211 39.22