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 CABIN1 0 genome.wustl.edu 37 22 24573575 24573575 + Silent SNP C C T TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 22 24573575 24573575 C T SNP CABIN1 ENST00000263119 human ensembl 69_37n +1 known silent c.6309 p.A2103 0.970 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 48 0 0.00 33 6 15.38 - - - EIF5 0 genome.wustl.edu 37 14 103803097 103803097 + Missense_Mutation SNP C C T TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 14 103803097 103803097 C T SNP EIF5 ENST00000216554 human ensembl 69_37n +1 known missense c.238 p.H80Y 1.000 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,smart_Transl_init_fac_IF2/IF5 pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 174 0 0.00 165 19 10.27 - - - ETNK2 0 genome.wustl.edu 37 1 204103702 204103702 + Missense_Mutation SNP G G C TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 1 204103702 204103702 G C SNP ETNK2 ENST00000367201 human ensembl 69_37n -1 known missense c.1135 p.L379V 1.000 NULL pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC ENSG00000143845 99 0 0.00 82 10 10.87 - - - FAM50A 0 genome.wustl.edu 37 X 153674859 153674859 + Silent SNP C C T TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 X 153674859 153674859 C T SNP FAM50A ENST00000393600 human ensembl 69_37n +1 known silent c.393 p.G131 0.000 pfam_XAP5 pfam_XAP5 - no_errors FAM50A HGNC ENSG00000071859 160 0 0.00 106 21 16.54 - - - GABRE 0 genome.wustl.edu 37 X 151128423 151128423 + Silent SNP G G A TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 X 151128423 151128423 G A SNP GABRE ENST00000370328 human ensembl 69_37n -1 known silent c.672 p.I224 0.249 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 178 0 0.00 178 20 10.00 - - - HSD17B10 0 genome.wustl.edu 37 X 53460760 53460760 + Missense_Mutation SNP C C T TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 X 53460760 53460760 C T SNP HSD17B10 ENST00000168216 human ensembl 69_37n -1 known missense c.101 p.G34E 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH - no_errors HSD17B10 HGNC ENSG00000072506 43 0 0.00 29 7 19.44 - - - ILK 0 genome.wustl.edu 37 11 6631001 6631001 + Missense_Mutation SNP G G A TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 11 6631001 6631001 G A SNP ILK ENST00000299421 human ensembl 69_37n +1 known missense c.903 p.M301I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 101 0 0.00 75 18 19.35 - - - MAP2 0 genome.wustl.edu 37 2 210574677 210574677 + Nonsense_Mutation SNP C C G TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 2 210574677 210574677 C G SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known nonsense c.4772 p.S1591* 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 155 0 0.00 107 12 10.08 - - - MSX2 0 genome.wustl.edu 37 5 174156269 174156269 + Nonsense_Mutation SNP C C T TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 5 174156269 174156269 C T SNP MSX2 ENST00000239243 human ensembl 69_37n +1 known nonsense c.487 p.Q163* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX2 HGNC ENSG00000120149 82 0 0.00 52 11 17.19 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 108 0 0.00 110 17 13.39 - - - RGS7 0 genome.wustl.edu 37 1 240976995 240976995 + Silent SNP G G A TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 1 240976995 240976995 G A SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known silent c.879 p.Y293 0.963 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 179 0 0.00 122 51 29.31 - - - TRPM2 0 genome.wustl.edu 37 21 45833784 45833784 + Silent SNP C C T TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 21 45833784 45833784 C T SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known silent c.2973 p.F991 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 118 0 0.00 61 12 16.00 - - - TTLL1 0 genome.wustl.edu 37 22 43435850 43435850 + Missense_Mutation SNP G G C TCGA-A2-A0YL-01A-21D-A10G-09 TCGA-A2-A0YL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3cc80b41-603d-4735-85c7-71f540dc6e5c f570e581-5f15-4113-93d7-a4bbeb7ec394 22 43435850 43435850 G C SNP TTLL1 ENST00000266254 human ensembl 69_37n -1 known missense c.1204 p.Q402E 0.847 NULL pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC ENSG00000100271 47 0 0.00 23 4 14.81 - - -