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 default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val FRMPD3 0 genome.wustl.edu 37 X 106846478 106846480 + In_Frame_Del DEL CAG CAG - TCGA-DX-A6YU-01A-12D-A33E-09 TCGA-DX-A6YU-10A-01D-A33H-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ace05a35-d1b2-4aa7-9c34-05b79d14a493 da7c4573-b81f-450f-9aeb-48c58a975706 X 106846478 106846480 CAG - DEL FRMPD3 ENST00000276185 human ensembl 74_37 +1 known in_frame_del c.5308_5310 p.Q1773in_frame_del 0.517:0.515:0.516 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 78 0 0.00 24 3 11.11 11 0 0.00 9 0 0.00 TRAF7 0 genome.wustl.edu 37 16 2220714 2220716 + In_Frame_Del DEL GAG GAG - TCGA-DX-A6YU-01A-12D-A33E-09 TCGA-DX-A6YU-10A-01D-A33H-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ace05a35-d1b2-4aa7-9c34-05b79d14a493 da7c4573-b81f-450f-9aeb-48c58a975706 16 2220714 2220716 GAG - DEL TRAF7 ENST00000326181 human ensembl 74_37 +1 known in_frame_del c.331_333 p.E114in_frame_del 1.000:1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 tier1 34 0 0.00 17 3 15.00 6 0 0.00 7 0 0.00 PPP1R12C 0 genome.wustl.edu 37 19 55610363 55610363 + Missense_Mutation SNP G G C TCGA-DX-A6YU-01A-12D-A33E-09 TCGA-DX-A6YU-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ace05a35-d1b2-4aa7-9c34-05b79d14a493 da7c4573-b81f-450f-9aeb-48c58a975706 19 55610363 55610363 G C SNP PPP1R12C ENST00000263433 human ensembl 74_37 -1 known missense c.832 p.L278V 0.997 pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 tier1 - - 65 0 0.00 40 6 13.04 0 0 0.00 2 0 0.00 ZNF208 0 genome.wustl.edu 37 19 22156134 22156134 + Missense_Mutation SNP G G T TCGA-DX-A6YU-01A-12D-A33E-09 TCGA-DX-A6YU-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ace05a35-d1b2-4aa7-9c34-05b79d14a493 da7c4573-b81f-450f-9aeb-48c58a975706 19 22156134 22156134 G T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1702 p.L568I 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 36 0 0.00 35 8 18.60 3 0 0.00 1 0 0.00 OR1D2 0 genome.wustl.edu 37 17 2996238 2996238 + Nonsense_Mutation SNP G G T TCGA-DX-A6YU-01A-12D-A33E-09 TCGA-DX-A6YU-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ace05a35-d1b2-4aa7-9c34-05b79d14a493 da7c4573-b81f-450f-9aeb-48c58a975706 17 2996238 2996238 G T SNP OR1D2 ENST00000331459 human ensembl 74_37 -1 known nonsense c.53 p.S18* 0.012 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC ENSG00000184166 tier1 - - 49 0 0.00 40 4 9.09 102 0 0.00 78 2 2.50