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 ABP1 0 genome.wustl.edu 37 7 150557703 150557703 + Silent SNP C C T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 7 150557703 150557703 C T SNP ABP1 ENST00000416793 human ensembl 69_37n +1 known silent c.2028 p.N676 0.986 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors ABP1 HGNC ENSG00000002726 85 0 0.00 40 11 21.57 - - - AMN1 0 genome.wustl.edu 37 12 31862323 31862323 + Nonsense_Mutation SNP A A T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 12 31862323 31862323 A T SNP AMN1 ENST00000281471 human ensembl 69_37n -1 known nonsense c.75 p.Y25* 0.761 NULL smart_Leu-rich_rpt_Cys-con_subtyp - no_errors AMN1 HGNC ENSG00000151743 68 0 0.00 15 10 40.00 - - - APC 0 genome.wustl.edu 37 5 112175450 112175450 + Missense_Mutation SNP T T A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 5 112175450 112175450 T A SNP APC ENST00000257430 human ensembl 69_37n +1 known missense c.4159 p.C1387S 1.000 pfam_APC_Cys-rich_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 50 0 0.00 11 8 42.11 - - - BIRC3 0 genome.wustl.edu 37 11 102195805 102195805 + Missense_Mutation SNP C C G TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 11 102195805 102195805 C G SNP BIRC3 ENST00000263464 human ensembl 69_37n +1 known missense c.565 p.L189V 0.777 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 35 0 0.00 21 9 30.00 - - - C19orf77 0 genome.wustl.edu 37 19 3478950 3478950 + RNA SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 19 3478950 3478950 G A SNP C19orf77 ENST00000586804 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C19orf77 HGNC ENSG00000095932 92 0 0.00 29 20 40.82 - - - CADM2 0 genome.wustl.edu 37 3 86010721 86010721 + Silent SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 3 86010721 86010721 G A SNP CADM2 ENST00000405615 human ensembl 69_37n +1 known silent c.873 p.T291 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC ENSG00000175161 93 0 0.00 38 29 43.28 - - - CBFB 0 genome.wustl.edu 37 16 67070577 67070578 + Frame_Shift_Ins INS - - T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 16 67070577 67070578 - T INS CBFB ENST00000290858 human ensembl 69_37n +1 known frame_shift_ins c.201_202 p.P69fs 1.000:1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 96 0 0.00 8 21 72.41 - - - CCBE1 0 genome.wustl.edu 37 18 57115243 57115243 + Missense_Mutation SNP A A T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 18 57115243 57115243 A T SNP CCBE1 ENST00000398179 human ensembl 69_37n -1 known missense c.74 p.L25Q 1.000 NULL pfam_Collagen - no_errors CCBE1 HGNC ENSG00000183287 84 0 0.00 39 35 47.30 - - - CLTC 0 genome.wustl.edu 37 17 57762432 57762432 + Missense_Mutation SNP A A G TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 17 57762432 57762432 A G SNP CLTC ENST00000269122 human ensembl 69_37n +1 known missense c.4450 p.I1484V 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 56 0 0.00 53 23 30.26 - - - DOCK7 0 genome.wustl.edu 37 1 63090858 63090858 + RNA SNP C C T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 1 63090858 63090858 C T SNP DOCK7 ENST00000464312 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DOCK7 HGNC ENSG00000116641 34 0 0.00 16 4 19.05 - - - EPHA4 0 genome.wustl.edu 37 2 222284646 222284646 + RNA SNP C C T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 2 222284646 222284646 C T SNP EPHA4 ENST00000469354 human ensembl 69_37n -1 putative rna NULL NULL 0.003 - - - no_errors EPHA4 HGNC ENSG00000116106 35 0 0.00 14 3 17.65 - - - FAM217A 0 genome.wustl.edu 37 6 4069855 4069857 + In_Frame_Del DEL TCT TCT - TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 6 4069855 4069857 TCT - DEL FAM217A ENST00000274673 human ensembl 69_37n -1 known in_frame_del c.602_600 p.D201in_frame_del 1.000:1.000:0.998 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 42 0 0.00 20 6 23.08 - - - FASTKD5 0 genome.wustl.edu 37 20 3129595 3129595 + Missense_Mutation SNP T T G TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 20 3129595 3129595 T G SNP FASTKD5 ENST00000380266 human ensembl 69_37n -1 known missense c.122 p.Q41P 0.001 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 144 0 0.00 66 87 56.86 - - - FOXF1 0 genome.wustl.edu 37 16 86544800 86544800 + Frame_Shift_Del DEL C C - TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 16 86544800 86544800 C - DEL FOXF1 ENST00000262426 human ensembl 69_37n +1 known frame_shift_del c.625 p.S210fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 13 0 0.00 4 2 33.33 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685316 23685317 + Frame_Shift_Ins INS - - T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 15 23685316 23685317 - T INS GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative frame_shift_ins c.2306_2305 p.A769fs 0.005:0.010 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 23 0 0.00 8 3 27.27 - - - GRIA4 0 genome.wustl.edu 37 11 105842661 105842661 + Missense_Mutation SNP T T A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 11 105842661 105842661 T A SNP GRIA4 ENST00000282499 human ensembl 69_37n +1 known missense c.2315 p.V772D 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 56 0 0.00 20 10 33.33 - - - HNRNPK 0 genome.wustl.edu 37 9 86595498 86595498 + RNA SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 9 86595498 86595498 G A SNP HNRNPK ENST00000472778 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors HNRNPK HGNC ENSG00000165119 52 0 0.00 19 4 17.39 - - - IGHV3-9 0 genome.wustl.edu 37 14 106552589 106552589 + Missense_Mutation SNP A A C TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 14 106552589 106552589 A C SNP IGHV3-9 ENST00000390600 human ensembl 69_37n -1 known missense c.50 p.V17G 0.880 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-9 HGNC ENSG00000211940 63 0 0.00 41 5 10.87 - - - IL33 0 genome.wustl.edu 37 9 6241782 6241782 + Missense_Mutation SNP G G C TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 9 6241782 6241782 G C SNP IL33 ENST00000381434 human ensembl 69_37n +1 known missense c.88 p.G30R 0.048 NULL NULL - no_errors IL33 HGNC ENSG00000137033 38 0 0.00 16 5 23.81 - - - ITGAM 0 genome.wustl.edu 37 16 31277441 31277441 + Missense_Mutation SNP C C T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 16 31277441 31277441 C T SNP ITGAM ENST00000544665 human ensembl 69_37n +1 known missense c.400 p.P134S 0.016 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 84 0 0.00 82 12 12.77 - - - MCM9 0 genome.wustl.edu 37 6 119136278 119136278 + Silent SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 6 119136278 119136278 G A SNP MCM9 ENST00000316316 human ensembl 69_37n -1 known silent c.3141 p.S1047 0.002 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 64 0 0.00 36 10 21.74 - - - NDNF 0 genome.wustl.edu 37 4 121961158 121961158 + Silent SNP C C T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 4 121961158 121961158 C T SNP NDNF ENST00000379692 human ensembl 69_37n -1 known silent c.240 p.T80 0.013 NULL pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 64 0 0.00 36 10 21.74 - - - OR52E8 0 genome.wustl.edu 37 11 5878438 5878438 + Silent SNP C C A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 11 5878438 5878438 C A SNP OR52E8 ENST00000537935 human ensembl 69_37n -1 known silent c.495 p.L165 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 54 0 0.00 19 23 54.76 - - - PGF 0 genome.wustl.edu 37 14 75409429 75409429 + Missense_Mutation SNP C C T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 14 75409429 75409429 C T SNP PGF ENST00000405431 human ensembl 69_37n -1 known missense c.646 p.D216N 0.000 NULL pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors PGF HGNC ENSG00000119630 42 0 0.00 10 9 47.37 - - - PRKCA 0 genome.wustl.edu 37 17 64800107 64800107 + Silent SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 17 64800107 64800107 G A SNP PRKCA ENST00000413366 human ensembl 69_37n +1 known silent c.1971 p.S657 0.667 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 66 0 0.00 69 8 10.39 - - - PSORS1C1 0 genome.wustl.edu 37 6 31083664 31083664 + RNA SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 6 31083664 31083664 G A SNP PSORS1C1 ENST00000467107 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PSORS1C1 HGNC ENSG00000204540 87 0 0.00 40 5 11.11 - - - RYR2 0 genome.wustl.edu 37 1 237924277 237924277 + Nonsense_Mutation SNP G G T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 1 237924277 237924277 G T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known nonsense c.11443 p.E3815* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 81 0 0.00 83 20 19.42 - - - SECISBP2L 0 genome.wustl.edu 37 15 49292062 49292062 + Missense_Mutation SNP C C A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 15 49292062 49292062 C A SNP SECISBP2L ENST00000559471 human ensembl 69_37n -1 known missense c.2371 p.V791L 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 100 0 0.00 48 20 29.41 - - - SLC5A2 0 genome.wustl.edu 37 16 31498700 31498700 + Missense_Mutation SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 16 31498700 31498700 G A SNP SLC5A2 ENST00000330498 human ensembl 69_37n +1 known missense c.634 p.A212T 0.955 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 122 0 0.00 49 54 52.43 - - - SPSB3 0 genome.wustl.edu 37 16 1827832 1827832 + Missense_Mutation SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 16 1827832 1827832 G A SNP SPSB3 ENST00000301717 human ensembl 69_37n -1 known missense c.637 p.R213W 0.239 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB3 HGNC ENSG00000162032 122 0 0.00 95 17 15.18 - - - SRSF11 0 genome.wustl.edu 37 1 70696867 70696867 + RNA DEL T T - TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 1 70696867 70696867 T - DEL SRSF11 ENST00000463116 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SRSF11 HGNC ENSG00000116754 61 0 0.00 16 2 11.11 - - - SSPO 0 genome.wustl.edu 37 7 149482039 149482039 + RNA SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 7 149482039 149482039 G A SNP SSPO ENST00000262089 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors SSPO HGNC ENSG00000197558 66 0 0.00 23 7 23.33 - - - STAG3L4 0 genome.wustl.edu 37 7 66767682 66767682 + RNA SNP C C G TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 7 66767682 66767682 C G SNP STAG3L4 ENST00000416602 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors STAG3L4 HGNC ENSG00000106610 119 0 0.00 27 28 50.91 - - - TGM5 0 genome.wustl.edu 37 15 43525787 43525787 + Frame_Shift_Del DEL T T - TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 15 43525787 43525787 T - DEL TGM5 ENST00000220420 human ensembl 69_37n -1 known frame_shift_del c.1974 p.G659fs 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 59 0 0.00 18 2 10.00 - - - TLR10 0 genome.wustl.edu 37 4 38775165 38775165 + Missense_Mutation SNP C C T TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 4 38775165 38775165 C T SNP TLR10 ENST00000308973 human ensembl 69_37n -1 known missense c.2047 p.V683I 0.901 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 91 0 0.00 56 35 38.04 - - - TMEM106A-AS1 0 genome.wustl.edu 37 17 41375597 41375597 + RNA SNP A A G TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 17 41375597 41375597 A G SNP TMEM106A-AS1 ENST00000427995 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TMEM106A-AS1 HGNC ENSG00000236383 42 0 0.00 35 4 10.26 - - - TRIO 0 genome.wustl.edu 37 5 14358426 14358426 + Missense_Mutation SNP A A G TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 5 14358426 14358426 A G SNP TRIO ENST00000344204 human ensembl 69_37n +1 known missense c.2186 p.K729R 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 100 0 0.00 48 19 28.36 - - - ZC3HAV1 0 genome.wustl.edu 37 7 138764884 138764884 + Missense_Mutation SNP G G A TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 7 138764884 138764884 G A SNP ZC3HAV1 ENST00000242351 human ensembl 69_37n -1 known missense c.803 p.A268V 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 57 0 0.00 18 5 21.74 - - - ZNF469 0 genome.wustl.edu 37 16 88501034 88501034 + Missense_Mutation SNP G G C TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d061284-08ba-40a8-b786-cb5dd38568ae ea5a960d-e0cb-4371-9ea6-7b93ddfe4275 16 88501034 88501034 G C SNP ZNF469 ENST00000437464 human ensembl 69_37n +1 known missense c.7072 p.G2358R 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 113 1 0.88 45 6 11.76 - - -