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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val HLX 0 genome.wustl.edu 37 1 221054597 221054597 + Silent SNP C C G TCGA-4V-A9QU-01A-11D-A423-09 TCGA-4V-A9QU-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d9e531d5-78eb-488b-a859-3e491dfd66c4 241c8049-d164-4789-8149-ad2484ccd18b 1 221054597 221054597 C G SNP HLX ENST00000366903 human ensembl 74_37 1 known silent c.654 p.P218 0.166 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa 0 no_errors 0 0 0 44 0 0 40 5 11.11 182 0 0.00 119 15 11.19 ENSG00000216089 0 genome.wustl.edu 37 4 160216906 160216906 + RNA SNP T T C TCGA-4V-A9QU-01A-11D-A423-09 TCGA-4V-A9QU-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d9e531d5-78eb-488b-a859-3e491dfd66c4 241c8049-d164-4789-8149-ad2484ccd18b 4 160216906 160216906 T C SNP ENSG00000216089 ENST00000401270 human ensembl 74_37 1 novel rna NULL NULL 0 0 0 0 no_errors rs10024829 T->C 0 36 1 2.7 31 11 25.58 50 0 0.00 22 2 8.33 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-4V-A9QU-01A-11D-A423-09 TCGA-4V-A9QU-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d9e531d5-78eb-488b-a859-3e491dfd66c4 241c8049-d164-4789-8149-ad2484ccd18b 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 284 0 0 420 36 7.89 169 0 0.00 125 19 13.19 NUAK1 0 genome.wustl.edu 37 12 106461007 106461007 + Missense_Mutation SNP C C T TCGA-4V-A9QU-01A-11D-A423-09 TCGA-4V-A9QU-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d9e531d5-78eb-488b-a859-3e491dfd66c4 241c8049-d164-4789-8149-ad2484ccd18b 12 106461007 106461007 C T SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1559 p.R520Q 1 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 0 no_errors rs117517173 C->T 0.9996,0.0003994 41 0 0 21 4 16 120 1 0.83 73 10 12.05 LHFPL3 0 genome.wustl.edu 37 7 103969251 103969251 + Silent SNP C C T TCGA-4V-A9QU-01A-11D-A423-09 TCGA-4V-A9QU-10A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9e531d5-78eb-488b-a859-3e491dfd66c4 241c8049-d164-4789-8149-ad2484ccd18b 7 103969251 103969251 C T SNP LHFPL3 ENST00000535008 human ensembl 74_37 1 known silent c.24 p.A8 1 NULL pfam_Lipome_HGMIC_fus_partner-like 0 no_errors 0 0 0 26 0 0 20 2 9.09 10 0 0.00 8 0 0.00 RUNX3 0 genome.wustl.edu 37 1 25256279 25256281 + In_Frame_Del DEL GCC GCC - TCGA-4V-A9QU-01A-11D-A423-09 TCGA-4V-A9QU-10A-01D-A426-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9e531d5-78eb-488b-a859-3e491dfd66c4 241c8049-d164-4789-8149-ad2484ccd18b 1 25256279 25256281 GCC 0 DEL RUNX3 ENST00000338888 human ensembl 74_37 -1 known in_frame_del c.123_121 p.G41in_frame_del 0.986:0.973:0.995 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt 0 no_errors 0 0 0 18 0 0 10 3 23.08 7 0 0.00 6 0 0.00