#genome_nexus_version: 0-unknown-version-SNAPSHOT #isoform: uniprot Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Consequence 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 t_ref_count t_alt_count n_ref_count n_alt_count HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Exon_Number gnomAD_AF gnomAD_AFR_AF gnomAD_AMR_AF gnomAD_ASJ_AF gnomAD_EAS_AF gnomAD_FIN_AF gnomAD_NFE_AF gnomAD_OTH_AF gnomAD_SAS_AF FILTER Polyphen_Prediction Polyphen_Score SIFT_Prediction SIFT_Score SWISSPROT n_depth t_depth Annotation_Status TERT 7015 SAGE GRCh37 5 1294207 1294207 + frameshift_variant Frame_Shift_Del DEL G G - GENIE-SAGE-1-1 NORMAL G G Unknown Unknown Somatic WXS ENST00000310581.5:c.794del p.Pro265ArgfsTer86 p.P265Rfs*86 ENST00000310581 NM_198253.2 265 cCg/cg 2/16 clinicalReported 117 SUCCESS CDKN2A 1029 SAGE GRCh37 9 21971120 21971120 + stop_gained Nonsense_Mutation SNP G G A rs121913388 GENIE-SAGE-1-1 NORMAL G G Unknown Unknown Somatic WXS ENST00000304494.5:c.238C>T p.Arg80Ter p.R80* ENST00000304494 NM_000077.4 80 Cga/Tga 2/3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 clinicalReported 27 SUCCESS FLT3 2322 SAGE GRCh37 13 28608257 28608259 + inframe_deletion In_Frame_Del DEL TCA TCA - GENIE-SAGE-1-1 NORMAL ATCA ATCA Unknown Unknown Somatic WXS ENST00000241453.7:c.1798_1800del p.Asp600del p.D600del ENST00000241453 NM_004119.2 599 taTGAt/tat 14/24 clinicalReported 3331 SUCCESS CREBBP 1387 SAGE GRCh37 16 3781477 3781477 + splice_region_variant,intron_variant Splice_Region DEL G G - GENIE-SAGE-1-1 NORMAL G G Unknown Unknown Somatic WXS ENST00000262367.5:c.4891-3del p.X1631_splice ENST00000262367 NM_004380.2 1631 118 SUCCESS TCF3 6929 SAGE GRCh37 19 1619444 1619445 + frameshift_variant Frame_Shift_Del DEL CT CT - GENIE-SAGE-1-1 NORMAL CT CT Unknown Unknown Somatic WXS ENST00000262965.5:c.1196_1197del p.Glu399GlyfsTer75 p.E399Gfs*75 ENST00000262965 NM_003200.3 399 gAG/g 15/19 75 SUCCESS RUNX1 861 SAGE GRCh37 21 36259253 36259253 + frameshift_variant Frame_Shift_Del DEL C C - GENIE-SAGE-1-1 NORMAL C C Unknown Unknown Somatic WXS ENST00000344691.4:c.157del p.Glu53ArgfsTer42 p.E53Rfs*42 ENST00000344691 NM_001001890.2 53 Gag/ag 1/6 80 SUCCESS