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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All CDHR1 0 genome.wustl.edu 37 10 85965678 85965678 + Missense_Mutation SNP G G A TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 10 85965678 85965678 G A SNP CDHR1 ENST00000372117 human ensembl 69_37n +1 known missense c.958 p.V320I 0.956 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 208 2 0.95 162 23 12.43 - - - CNGA2 0 genome.wustl.edu 37 X 150911669 150911669 + Missense_Mutation SNP G G A TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 X 150911669 150911669 G A SNP CNGA2 ENST00000329903 human ensembl 69_37n +1 known missense c.694 p.D232N 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 200 1 0.50 155 27 14.75 - - - FASN 0 genome.wustl.edu 37 17 80042925 80042925 + Silent SNP G G A TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 17 80042925 80042925 G A SNP FASN ENST00000306749 human ensembl 69_37n -1 known silent c.4395 p.G1465 0.131 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 11 0 0.00 6 6 50.00 - - - FBXO44 0 genome.wustl.edu 37 1 11718651 11718651 + Missense_Mutation SNP G G A TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 1 11718651 11718651 G A SNP FBXO44 ENST00000376768 human ensembl 69_37n +1 known missense c.425 p.G142E 1.000 NULL pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom - no_errors FBXO44 HGNC ENSG00000132879 107 1 0.93 82 16 16.16 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685300 23685301 + Frame_Shift_Del DEL TT TT - TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 15 23685300 23685301 TT - DEL GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative frame_shift_del c.2322_2321 p.E774fs 0.104:0.092 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 12 0 0.00 7 4 36.36 - - - GTSF1 0 genome.wustl.edu 37 12 54857054 54857054 + Missense_Mutation SNP C C T TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 12 54857054 54857054 C T SNP GTSF1 ENST00000546931 human ensembl 69_37n -1 known missense c.145 p.A49T 1.000 pfam_TRM13/UPF0224_CHHC_Znf_dom pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors GTSF1 HGNC ENSG00000170627 342 3 0.87 298 44 12.83 - - - GUCY2C 0 genome.wustl.edu 37 12 14835986 14835986 + Missense_Mutation SNP C C T TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 12 14835986 14835986 C T SNP GUCY2C ENST00000261170 human ensembl 69_37n -1 known missense c.601 p.D201N 1.000 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 166 1 0.60 115 17 12.88 - - - LRRC37BP1 0 genome.wustl.edu 37 17 28960257 28960257 + RNA SNP T T A TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 17 28960257 28960257 T A SNP LRRC37BP1 ENST00000398849 human ensembl 69_37n +1 known rna NULL NULL 0.397 - - - no_errors LRRC37BP1 HGNC ENSG00000214719 230 0 0.00 237 35 12.82 - - - NACAD 0 genome.wustl.edu 37 7 45124668 45124668 + Missense_Mutation SNP T T C TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 7 45124668 45124668 T C SNP NACAD ENST00000490531 human ensembl 69_37n -1 known missense c.1111 p.T371A 1.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 51 0 0.00 41 5 10.87 - - - OSBPL8 0 genome.wustl.edu 37 12 76765227 76765227 + Splice_Site SNP C C T TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 12 76765227 76765227 C T SNP OSBPL8 ENST00000261183 human ensembl 69_37n -1 known splice_site c.2054+1 e18+1 1.000 - - - no_errors OSBPL8 HGNC ENSG00000091039 460 0 0.00 411 53 11.42 - - - PCSK5 0 genome.wustl.edu 37 9 78790207 78790207 + Silent SNP C C A TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 9 78790207 78790207 C A SNP PCSK5 ENST00000376767 human ensembl 69_37n +1 known silent c.2062 p.R688 0.000 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 17 0 0.00 14 8 36.36 - - - PGRMC1 0 genome.wustl.edu 37 X 118377191 118377191 + Missense_Mutation SNP G G A TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 X 118377191 118377191 G A SNP PGRMC1 ENST00000217971 human ensembl 69_37n +1 known missense c.562 p.D188N 1.000 NULL pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors PGRMC1 HGNC ENSG00000101856 355 0 0.00 271 34 11.15 - - - SEPT9 0 genome.wustl.edu 37 17 75471846 75471846 + Silent SNP C C T TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 17 75471846 75471846 C T SNP SEPT9 ENST00000427180 human ensembl 69_37n +1 known silent c.246 p.H82 0.000 NULL pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pfam_ProtSyn_GTP-bd - no_errors SEPT9 HGNC ENSG00000184640 81 0 0.00 70 11 13.58 - - - UGT2A3 0 genome.wustl.edu 37 4 69817413 69817413 + Silent SNP G G A TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f f82dbed7-9803-4143-8b84-e8beb908c205 4 69817413 69817413 G A SNP UGT2A3 ENST00000251566 human ensembl 69_37n -1 known silent c.66 p.F22 0.000 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 105 0 0.00 84 17 16.83 - - -