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 ADAMTS7 0 genome.wustl.edu 37 15 79068549 79068549 + Silent SNP G G T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 15 79068549 79068549 G T SNP ADAMTS7 ENST00000388820 human ensembl 69_37n -1 known silent c.1687 p.R563 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 39 0 0.00 35 5 12.50 - - - APOBEC3C 0 genome.wustl.edu 37 22 39413893 39413893 + Missense_Mutation SNP C C G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 22 39413893 39413893 C G SNP APOBEC3C ENST00000361441 human ensembl 69_37n +1 known missense c.297 p.D99E 0.001 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3C HGNC ENSG00000244509 207 0 0.00 89 16 15.24 - - - APOBEC3C 0 genome.wustl.edu 37 22 39414291 39414291 + Missense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 22 39414291 39414291 G A SNP APOBEC3C ENST00000361441 human ensembl 69_37n +1 known missense c.472 p.E158K 0.056 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3C HGNC ENSG00000244509 132 0 0.00 87 24 21.62 - - - AUP1 0 genome.wustl.edu 37 2 74754622 74754622 + Silent SNP A A G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 2 74754622 74754622 A G SNP AUP1 ENST00000377526 human ensembl 69_37n -1 known silent c.937 p.L313 0.997 pfam_CUE,smart_CUE,pfscan_CUE pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 77 0 0.00 49 6 10.91 - - - BCL9 0 genome.wustl.edu 37 1 147087614 147087614 + Missense_Mutation SNP C C A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 1 147087614 147087614 C A SNP BCL9 ENST00000234739 human ensembl 69_37n +1 known missense c.572 p.A191D 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 127 0 0.00 94 20 17.54 - - - BRSK2 0 genome.wustl.edu 37 11 1477889 1477889 + Nonsense_Mutation SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 11 1477889 1477889 C T SNP BRSK2 ENST00000533606 human ensembl 69_37n +1 putative nonsense c.526 p.R176* 0.992 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BRSK2 HGNC ENSG00000174672 15 0 0.00 15 13 46.43 - - - C4orf51 0 genome.wustl.edu 37 4 146601433 146601433 + Silent SNP C C A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 4 146601433 146601433 C A SNP C4orf51 ENST00000438731 human ensembl 69_37n +1 known silent c.78 p.I26 0.948 NULL NULL - no_errors C4orf51 HGNC ENSG00000237136 177 0 0.00 100 35 25.93 - - - C6orf170 0 genome.wustl.edu 37 6 121631945 121631945 + Missense_Mutation SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 6 121631945 121631945 C T SNP C6orf170 ENST00000275159 human ensembl 69_37n -1 putative missense c.544 p.D182N 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors C6orf170 HGNC ENSG00000146350 107 0 0.00 48 24 33.33 - - - CCDC85A 0 genome.wustl.edu 37 2 56420362 56420362 + Missense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 2 56420362 56420362 G A SNP CCDC85A ENST00000407595 human ensembl 69_37n +1 known missense c.1027 p.A343T 0.018 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 40 0 0.00 38 13 25.49 - - - CCT3 0 genome.wustl.edu 37 1 156288708 156288708 + Missense_Mutation SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 1 156288708 156288708 C T SNP CCT3 ENST00000295688 human ensembl 69_37n -1 known missense c.710 p.R237H 0.802 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 89 0 0.00 46 60 56.07 - - - CLDN5 0 genome.wustl.edu 37 22 19511925 19511925 + Nonsense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 22 19511925 19511925 G A SNP CLDN5 ENST00000403084 human ensembl 69_37n -1 known nonsense c.109 p.Q37* 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5 - no_errors CLDN5 HGNC ENSG00000184113 8 0 0.00 5 4 44.44 - - - DLX6 0 genome.wustl.edu 37 7 96639271 96639271 + Missense_Mutation SNP G G C TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 7 96639271 96639271 G C SNP DLX6 ENST00000518156 human ensembl 69_37n +1 known missense c.794 p.S265T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors DLX6 HGNC ENSG00000006377 68 0 0.00 36 18 32.73 - - - DNM1P46 0 genome.wustl.edu 37 15 100340174 100340175 + RNA INS - - A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 15 100340174 100340175 - A INS DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 0.948:0.931 - - - no_errors DNM1P46 HGNC ENSG00000182397 11 0 0.00 8 4 33.33 - - - DNM1P46 0 genome.wustl.edu 37 15 100340179 100340179 + RNA DEL G G - TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 15 100340179 100340179 G - DEL DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 0.957 - - - no_errors DNM1P46 HGNC ENSG00000182397 9 0 0.00 8 4 33.33 - - - DSEL 0 genome.wustl.edu 37 18 65178250 65178250 + Nonsense_Mutation SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 18 65178250 65178250 C T SNP DSEL ENST00000310045 human ensembl 69_37n -1 known nonsense c.3626 p.W1209* 0.809 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 116 0 0.00 80 31 27.68 - - - DVL3 0 genome.wustl.edu 37 3 183882690 183882690 + Missense_Mutation SNP T T A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 3 183882690 183882690 T A SNP DVL3 ENST00000313143 human ensembl 69_37n +1 known missense c.570 p.F190L 1.000 pfam_Dishevelled_protein_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled,prints_Dishevelled_3,prints_Dishevelled_1 - no_errors DVL3 HGNC ENSG00000161202 61 0 0.00 35 6 14.63 - - - EEF1A1 0 genome.wustl.edu 37 6 74227940 74227940 + Silent SNP A A C TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 6 74227940 74227940 A C SNP EEF1A1 ENST00000309268 human ensembl 69_37n -1 known silent c.1077 p.P359 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 47 0 0.00 29 4 12.12 - - - EP400 0 genome.wustl.edu 37 12 132547138 132547138 + Silent SNP A A G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 12 132547138 132547138 A G SNP EP400 ENST00000333577 human ensembl 69_37n +1 known silent c.8334 p.Q2778 0.021 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 47 0 0.00 79 17 17.71 - - - EXOC3 0 genome.wustl.edu 37 5 465362 465362 + Missense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 5 465362 465362 G A SNP EXOC3 ENST00000315013 human ensembl 69_37n +1 known missense c.1913 p.R638H 1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 126 0 0.00 70 28 28.57 - - - FGFR4 0 genome.wustl.edu 37 5 176519685 176519685 + Nonsense_Mutation SNP C C G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 5 176519685 176519685 C G SNP FGFR4 ENST00000292408 human ensembl 69_37n +1 known nonsense c.957 p.Y319* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FGFR4 HGNC ENSG00000160867 55 0 0.00 90 11 10.89 - - - FLG 0 genome.wustl.edu 37 1 152280540 152280540 + Silent SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 1 152280540 152280540 C T SNP FLG ENST00000368799 human ensembl 69_37n -1 known silent c.6822 p.Q2274 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 402 0 0.00 240 148 38.14 - - - GCC2 0 genome.wustl.edu 37 2 109087385 109087385 + Missense_Mutation SNP C C G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 2 109087385 109087385 C G SNP GCC2 ENST00000309863 human ensembl 69_37n +1 known missense c.1600 p.L534V 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 9 0 0.00 8 4 33.33 - - - HMGB1 0 genome.wustl.edu 37 13 31037698 31037698 + Missense_Mutation SNP C C G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 13 31037698 31037698 C G SNP HMGB1 ENST00000339872 human ensembl 69_37n -1 known missense c.120 p.E40D 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB1 HGNC ENSG00000189403 226 0 0.00 148 51 25.63 - - - KCNN3 0 genome.wustl.edu 37 1 154842243 154842243 + Silent SNP A A C TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 1 154842243 154842243 A C SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known silent c.198 p.L66 0.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 18 0 0.00 44 37 45.68 - - - KCNN3 0 genome.wustl.edu 37 1 154842244 154842244 + Missense_Mutation SNP A A T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 1 154842244 154842244 A T SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known missense c.197 p.L66H 0.166 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 19 0 0.00 44 37 45.68 - - - MAP6 0 genome.wustl.edu 37 11 75298416 75298416 + Silent SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 11 75298416 75298416 G A SNP MAP6 ENST00000304771 human ensembl 69_37n -1 known silent c.2130 p.P710 0.005 NULL pfam_STOP/FAM154 - no_errors MAP6 HGNC ENSG00000171533 186 1 0.53 134 56 29.47 - - - MARS 0 genome.wustl.edu 37 12 57908826 57908826 + Missense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 12 57908826 57908826 G A SNP MARS ENST00000262027 human ensembl 69_37n +1 known missense c.2189 p.G730D 0.996 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 111 0 0.00 69 17 19.77 - - - MBP 0 genome.wustl.edu 37 18 74701956 74701956 + Missense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 18 74701956 74701956 G A SNP MBP ENST00000355994 human ensembl 69_37n -1 known missense c.637 p.R213W 0.999 pfam_Myelin_BP,prints_Myelin_BP pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 374 0 0.00 167 80 32.39 - - - NBEAL1 0 genome.wustl.edu 37 2 204037478 204037478 + Silent SNP T T G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 2 204037478 204037478 T G SNP NBEAL1 ENST00000449802 human ensembl 69_37n +1 known silent c.6138 p.T2046 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 97 0 0.00 62 17 21.52 - - - NBPF1 0 genome.wustl.edu 37 1 16891340 16891340 + RNA SNP T T A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 1 16891340 16891340 T A SNP NBPF1 ENST00000401007 human ensembl 69_37n -1 known rna NULL NULL 0.060 - - - no_errors NBPF1 HGNC ENSG00000219481 35 0 0.00 30 5 14.29 - - - OR2A7 0 genome.wustl.edu 37 7 143956461 143956461 + Silent SNP T T C TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 7 143956461 143956461 T C SNP OR2A7 ENST00000493325 human ensembl 69_37n -1 known silent c.261 p.P87 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A7 HGNC ENSG00000243896 8 0 0.00 5 9 64.29 - - - OR51F2 0 genome.wustl.edu 37 11 4842865 4842865 + Missense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 11 4842865 4842865 G A SNP OR51F2 ENST00000322110 human ensembl 69_37n +1 known missense c.250 p.D84N 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 123 0 0.00 60 22 26.83 - - - OR6T1 0 genome.wustl.edu 37 11 123813896 123813896 + Missense_Mutation SNP G G T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 11 123813896 123813896 G T SNP OR6T1 ENST00000321252 human ensembl 69_37n -1 known missense c.650 p.S217Y 0.717 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 94 0 0.00 58 13 18.31 - - - PCDH10 0 genome.wustl.edu 37 4 134072136 134072136 + Nonsense_Mutation SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 4 134072136 134072136 C T SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known nonsense c.841 p.Q281* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 56 0 0.00 38 8 17.02 - - - PHKA1 0 genome.wustl.edu 37 X 71830973 71830973 + Missense_Mutation SNP T T C TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 X 71830973 71830973 T C SNP PHKA1 ENST00000373539 human ensembl 69_37n -1 known missense c.2431 p.T811A 0.005 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 165 0 0.00 78 22 21.57 - - - PPEF2 0 genome.wustl.edu 37 4 76788502 76788502 + Frame_Shift_Del DEL G G - TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 4 76788502 76788502 G - DEL PPEF2 ENST00000286719 human ensembl 69_37n -1 known frame_shift_del c.1720 p.L574fs 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain,smart_EF_hand_Ca-bd pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_HAND_2 - no_errors PPEF2 HGNC ENSG00000156194 113 0 0.00 59 18 23.08 - - - PRRC2B 0 genome.wustl.edu 37 9 134360104 134360104 + Missense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 9 134360104 134360104 G A SNP PRRC2B ENST00000357304 human ensembl 69_37n +1 known missense c.5492 p.R1831Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 207 1 0.48 129 52 28.57 - - - RHOXF2 0 genome.wustl.edu 37 X 119293091 119293091 + Missense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 X 119293091 119293091 G A SNP RHOXF2 ENST00000371388 human ensembl 69_37n +1 known missense c.250 p.G84R 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RHOXF2 HGNC ENSG00000131721 103 0 0.00 75 32 29.63 - - - RPGRIP1L 0 genome.wustl.edu 37 16 53686660 53686660 + Missense_Mutation SNP C C A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 16 53686660 53686660 C A SNP RPGRIP1L ENST00000379925 human ensembl 69_37n -1 known missense c.1939 p.V647L 0.032 pfam_DUF3250,smart_C2_Ca-dep pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RPGRIP1L HGNC ENSG00000103494 106 0 0.00 61 26 29.89 - - - SCN1A 0 genome.wustl.edu 37 2 166847987 166847987 + Missense_Mutation SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 2 166847987 166847987 C T SNP SCN1A ENST00000303395 human ensembl 69_37n -1 known missense c.5798 p.R1933Q 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 83 0 0.00 53 21 28.38 - - - SPTBN2 0 genome.wustl.edu 37 11 66463885 66463885 + Missense_Mutation SNP C C G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 11 66463885 66463885 C G SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known missense c.4141 p.D1381H 1.000 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 97 0 0.00 84 26 23.64 - - - SYT1 0 genome.wustl.edu 37 12 79679692 79679692 + Frame_Shift_Del DEL G G - TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 12 79679692 79679692 G - DEL SYT1 ENST00000261205 human ensembl 69_37n +1 known frame_shift_del c.292 p.K99fs 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting - no_errors SYT1 HGNC ENSG00000067715 223 0 0.00 154 49 23.67 - - - TNIP3 0 genome.wustl.edu 37 4 122078381 122078381 + Silent SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 4 122078381 122078381 C T SNP TNIP3 ENST00000057513 human ensembl 69_37n -1 known silent c.231 p.T77 0.057 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 112 0 0.00 42 16 27.59 - - - TP53 0 genome.wustl.edu 37 17 7577112 7577112 + Missense_Mutation SNP C C G TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 17 7577112 7577112 C G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.826 p.A276P 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 157 0 0.00 54 41 43.16 - - - TRPA1 0 genome.wustl.edu 37 8 72973917 72973917 + Missense_Mutation SNP G G A TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 8 72973917 72973917 G A SNP TRPA1 ENST00000262209 human ensembl 69_37n -1 known missense c.887 p.S296F 0.013 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 200 0 0.00 85 28 24.78 - - - TRPC3 0 genome.wustl.edu 37 4 122853631 122853631 + Missense_Mutation SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 4 122853631 122853631 C T SNP TRPC3 ENST00000379645 human ensembl 69_37n -1 known missense c.782 p.R261Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 86 0 0.00 51 29 36.25 - - - YTHDF1 0 genome.wustl.edu 37 20 61834555 61834555 + Missense_Mutation SNP G G T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 20 61834555 61834555 G T SNP YTHDF1 ENST00000370339 human ensembl 69_37n -1 known missense c.737 p.P246H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 51 0 0.00 29 7 19.44 - - - ZNF419 0 genome.wustl.edu 37 19 58003544 58003544 + Missense_Mutation SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bc13601e-3e03-4d7d-8e6e-5b05ff500ea3 5b149a6b-4032-4d61-89da-1b30733c2977 19 58003544 58003544 C T SNP ZNF419 ENST00000424930 human ensembl 69_37n +1 known missense c.266 p.P89L 0.009 pfscan_Krueppel-associated_box 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 ZNF419 HGNC ENSG00000105136 246 0 0.00 80 45 36.00 - - -