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 NPM1 4869 JHU GRCh37 5 170837526 170837526 + splice_region_variant,intron_variant Splice_Region SNP T T C rs191111314 SAGE-1 Unknown Unknown Somatic WXS ENST00000296930.5:c.847-5T>C p.X283_splice ENST00000296930 NM_002520.6 283 0.00406512 0.0527929 0.00226026 0.0 0.0 0.0 9.54198E-5 0.00293083 9.44481E-4 SUCCESS NPM1 4869 JHU GRCh37 5 170837513 170837514 + intron_variant Intron INS - CTTTTTTTTTTTTT CTTTTTTTTTTTTT SAGE-1 Unknown Unknown Somatic WXS ENST00000296930.5:c.847-18_847-17insCTTTTTTTTTTTTT p.*283* ENST00000296930 NM_002520.6 SUCCESS NPM1 4869 JHU GRCh37 5 170837513 170837514 + intron_variant Intron INS - CTTTTTTTTTTTTT CTTTTTTTTTTTTT SAGE-1 Unknown Unknown Somatic WXS ENST00000296930.5:c.847-18_847-17insCTTTTTTTTTTTTT p.*283* ENST00000296930 NM_002520.6 SUCCESS PTEN 5728 JHU GRCh37 10 89711833 89711834 + intron_variant Intron INS - A A SAGE-1 Unknown Unknown Somatic WXS ENST00000371953.3:c.493-42dup p.*165* ENST00000371953 NM_000314.4 SUCCESS PTEN 5728 JHU GRCh37 10 89711833 89711834 + intron_variant Intron INS - A A SAGE-1 Unknown Unknown Somatic WXS ENST00000371953.3:c.493-42dup p.*165* ENST00000371953 NM_000314.4 SUCCESS FLT3 2322 JHU GRCh37 13 28608200 28608201 + intron_variant Intron INS - T T SAGE-1 Unknown Unknown Somatic WXS ENST00000241453.7:c.1837+21dup p.*613* ENST00000241453 NM_004119.2 SUCCESS FLT3 2322 JHU GRCh37 13 28608200 28608201 + intron_variant Intron INS - T T SAGE-1 Unknown Unknown Somatic WXS ENST00000241453.7:c.1837+21dup p.*613* ENST00000241453 NM_004119.2 SUCCESS STAG2 10735 JHU GRCh37 X 123195618 123195618 + splice_region_variant,intron_variant Splice_Region SNP T T A rs766097406 SAGE-1 Unknown Unknown Somatic WXS ENST00000371144.3:c.1535-3T>A p.X512_splice ENST00000371144 NM_001042751.1 512 0.00221775 2.12427E-4 7.0428E-4 0.0099418 0.0 6.77507E-4 0.00347342 0.00208943 0.0 SUCCESS STAG2 10735 JHU GRCh37 X 123195618 123195619 + splice_region_variant,intron_variant Splice_Region INS - T T SAGE-1 Unknown Unknown Somatic WXS ENST00000371144.3:c.1535-3dup p.X512_splice ENST00000371144 NM_001042751.1 512 SUCCESS STAG2 10735 JHU GRCh37 X 123195618 123195619 + splice_region_variant,intron_variant Splice_Region INS - T T SAGE-1 Unknown Unknown Somatic WXS ENST00000371144.3:c.1535-3dup p.X512_splice ENST00000371144 NM_001042751.1 512 SUCCESS