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 A2ML1 0 genome.wustl.edu 37 12 8998092 8998092 + Nonsense_Mutation SNP A A T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 12 8998092 8998092 A T SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known nonsense c.1531 p.K511* 0.136 pfam_A2M_N_2 pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 41 0 0.00 35 16 31.37 - - - ABL1 0 genome.wustl.edu 37 9 133729582 133729582 + Missense_Mutation SNP G G A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 9 133729582 133729582 G A SNP ABL1 ENST00000372348 human ensembl 69_37n +1 known missense c.268 p.D90N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 38 0 0.00 31 9 22.50 - - - ACE 0 genome.wustl.edu 37 17 61557814 61557814 + Missense_Mutation SNP G G A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 17 61557814 61557814 G A SNP ACE ENST00000290866 human ensembl 69_37n +1 known missense c.772 p.V258I 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 35 0 0.00 26 16 38.10 - - - ADD2 0 genome.wustl.edu 37 2 70905967 70905967 + Missense_Mutation SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 2 70905967 70905967 C T SNP ADD2 ENST00000264436 human ensembl 69_37n -1 known missense c.1252 p.A418T 0.055 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 46 0 0.00 42 18 29.51 - - - APOBR 0 genome.wustl.edu 37 16 28507424 28507424 + Silent SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 16 28507424 28507424 C T SNP APOBR ENST00000564831 human ensembl 69_37n +1 known silent c.1062 p.A354 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 17 0 0.00 6 5 45.45 - - - BZW1 0 genome.wustl.edu 37 2 201682951 201682951 + Silent SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 2 201682951 201682951 C T SNP BZW1 ENST00000409600 human ensembl 69_37n +1 known silent c.654 p.L218 0.974 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 33 0 0.00 21 14 40.00 - - - CAMSAP1 0 genome.wustl.edu 37 9 138714464 138714464 + Silent SNP C C A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 9 138714464 138714464 C A SNP CAMSAP1 ENST00000409386 human ensembl 69_37n -1 known silent c.2076 p.G692 0.017 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 30 0 0.00 25 9 26.47 - - - CCDC172 0 genome.wustl.edu 37 10 118100287 118100287 + Missense_Mutation SNP G G C TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 10 118100287 118100287 G C SNP CCDC172 ENST00000333254 human ensembl 69_37n +1 known missense c.207 p.L69F 1.000 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 37 0 0.00 20 8 28.57 - - - CHSY3 0 genome.wustl.edu 37 5 129520402 129520402 + Nonsense_Mutation SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 5 129520402 129520402 C T SNP CHSY3 ENST00000305031 human ensembl 69_37n +1 known nonsense c.1567 p.Q523* 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 23 0 0.00 24 8 25.00 - - - CRISPLD2 0 genome.wustl.edu 37 16 84888433 84888433 + Missense_Mutation SNP G G A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 16 84888433 84888433 G A SNP CRISPLD2 ENST00000262424 human ensembl 69_37n +1 known missense c.707 p.R236Q 1.000 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD2 HGNC ENSG00000103196 41 0 0.00 23 13 36.11 - - - DDI1 0 genome.wustl.edu 37 11 103907556 103907556 + Silent SNP G G A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 11 103907556 103907556 G A SNP DDI1 ENST00000302259 human ensembl 69_37n +1 known silent c.6 p.L2 0.967 pfscan_Ubiquitin_supergroup pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 10 0 0.00 8 5 38.46 - - - EIF2C4 0 genome.wustl.edu 37 1 36297703 36297703 + Missense_Mutation SNP G G A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 1 36297703 36297703 G A SNP EIF2C4 ENST00000373210 human ensembl 69_37n +1 known missense c.1162 p.E388K 1.000 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENSG00000134698 53 0 0.00 39 19 32.76 - - - EMCN 0 genome.wustl.edu 37 4 101396227 101396227 + Nonsense_Mutation SNP G G C TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 4 101396227 101396227 G C SNP EMCN ENST00000296420 human ensembl 69_37n -1 known nonsense c.227 p.S76* 0.002 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 60 0 0.00 37 12 24.49 - - - FBXW8 0 genome.wustl.edu 37 12 117387426 117387426 + Missense_Mutation SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 12 117387426 117387426 C T SNP FBXW8 ENST00000309909 human ensembl 69_37n +1 known missense c.592 p.R198C 1.000 superfamily_F-box_dom_cyclin-like,smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 40 0 0.00 40 12 23.08 - - - HRNR 0 genome.wustl.edu 37 1 152188769 152188769 + Missense_Mutation SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 1 152188769 152188769 C T SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.5336 p.S1779N 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 16 0 0.00 16 4 20.00 - - - IBSP 0 genome.wustl.edu 37 4 88723821 88723821 + Missense_Mutation SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 4 88723821 88723821 C T SNP IBSP ENST00000226284 human ensembl 69_37n +1 known missense c.121 p.P41S 1.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 58 0 0.00 33 16 32.65 - - - IFI16 0 genome.wustl.edu 37 1 158985687 158985687 + Missense_Mutation SNP G G C TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 1 158985687 158985687 G C SNP IFI16 ENST00000295809 human ensembl 69_37n +1 known missense c.291 p.K97N 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 30 0 0.00 29 11 27.50 - - - IGKV2D-30 0 genome.wustl.edu 37 2 89976205 89976205 + Missense_Mutation SNP C C G TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 2 89976205 89976205 C G SNP IGKV2D-30 ENST00000474213 human ensembl 69_37n +1 known missense c.76 p.Q26E 1.000 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV2D-30 HGNC ENSG00000239571 31 0 0.00 21 13 38.24 - - - KNDC1 0 genome.wustl.edu 37 10 135025332 135025332 + Missense_Mutation SNP G G C TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 10 135025332 135025332 G C SNP KNDC1 ENST00000368572 human ensembl 69_37n +1 known missense c.4212 p.K1404N 0.987 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 12 0 0.00 4 4 50.00 - - - KRT79 0 genome.wustl.edu 37 12 53227620 53227620 + Missense_Mutation SNP T T C TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 12 53227620 53227620 T C SNP KRT79 ENST00000330553 human ensembl 69_37n -1 known missense c.425 p.E142G 1.000 pfam_F pfam_F,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 50 0 0.00 39 12 23.53 - - - LRP1B 0 genome.wustl.edu 37 2 141806595 141806595 + Silent SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 2 141806595 141806595 C T SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known silent c.1749 p.Q583 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 71 0 0.00 71 28 28.28 - - - LYSMD3 0 genome.wustl.edu 37 5 89814775 89814775 + Nonsense_Mutation SNP G G C TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 5 89814775 89814775 G C SNP LYSMD3 ENST00000315948 human ensembl 69_37n -1 known nonsense c.782 p.S261* 1.000 NULL pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr - no_errors LYSMD3 HGNC ENSG00000176018 62 0 0.00 43 22 33.85 - - - MGEA5 0 genome.wustl.edu 37 10 103563692 103563692 + Missense_Mutation SNP T T A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 10 103563692 103563692 T A SNP MGEA5 ENST00000361464 human ensembl 69_37n -1 known missense c.836 p.D279V 1.000 pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 60 0 0.00 41 19 31.67 - - - MUC16 0 genome.wustl.edu 37 19 9076601 9076601 + Silent SNP T T G TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 19 9076601 9076601 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.10845 p.T3615 0.036 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 83 0 0.00 45 16 26.23 - - - MUC6 0 genome.wustl.edu 37 11 1016406 1016406 + Missense_Mutation SNP G G A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 11 1016406 1016406 G A SNP MUC6 ENST00000421673 human ensembl 69_37n -1 known missense c.6395 p.S2132F 0.014 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 56 0 0.00 67 27 28.72 - - - NACC1 0 genome.wustl.edu 37 19 13247176 13247176 + Silent SNP C C G TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 19 13247176 13247176 C G SNP NACC1 ENST00000292431 human ensembl 69_37n +1 known silent c.1077 p.L359 1.000 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 32 0 0.00 11 12 52.17 - - - NR3C1 0 genome.wustl.edu 37 5 142680112 142680112 + Missense_Mutation SNP G G A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 5 142680112 142680112 G A SNP NR3C1 ENST00000231509 human ensembl 69_37n -1 known missense c.1688 p.T563M 0.996 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 54 0 0.00 36 14 28.00 - - - PIK3C2B 0 genome.wustl.edu 37 1 204425124 204425124 + Silent SNP G G A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 1 204425124 204425124 G A SNP PIK3C2B ENST00000367187 human ensembl 69_37n -1 known silent c.1803 p.C601 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 36 0 0.00 19 6 24.00 - - - PIK3C2B 0 genome.wustl.edu 37 1 204425125 204425125 + Missense_Mutation SNP C C G TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 1 204425125 204425125 C G SNP PIK3C2B ENST00000367187 human ensembl 69_37n -1 known missense c.1802 p.C601S 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 36 0 0.00 21 6 22.22 - - - PLA2G6 0 genome.wustl.edu 37 22 38509509 38509509 + Silent SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 22 38509509 38509509 C T SNP PLA2G6 ENST00000332509 human ensembl 69_37n -1 known silent c.2187 p.K729 0.997 superfamily_Acyl_Trfase/lysoPLipase pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 38 0 0.00 26 8 23.53 - - - PNRC1 0 genome.wustl.edu 37 6 89793494 89793494 + Missense_Mutation SNP A A C TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 6 89793494 89793494 A C SNP PNRC1 ENST00000336032 human ensembl 69_37n +1 known missense c.563 p.K188T 1.000 NULL NULL - no_errors PNRC1 HGNC ENSG00000146278 18 0 0.00 15 10 40.00 - - - RNF213 0 genome.wustl.edu 37 17 78318644 78318644 + Missense_Mutation SNP A A G TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 17 78318644 78318644 A G SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.6509 p.Y2170C 0.998 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 46 0 0.00 41 26 38.81 - - - SCN5A 0 genome.wustl.edu 37 3 38647465 38647465 + Nonsense_Mutation SNP C C A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 3 38647465 38647465 C A SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known nonsense c.1315 p.E439* 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 33 0 0.00 28 14 33.33 - - - SMC4 0 genome.wustl.edu 37 3 160148495 160148497 + In_Frame_Del DEL AGC AGC - TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 3 160148495 160148497 AGC - DEL SMC4 ENST00000344722 human ensembl 69_37n +1 known in_frame_del c.2904_2906 p.A970in_frame_del 0.369:0.991:0.993 pfam_RecF/RecN/SMC,superfamily_Prefoldin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 29 0 0.00 44 12 21.43 - - - SMC4 0 genome.wustl.edu 37 3 160148940 160148941 + Frame_Shift_Del DEL AT AT - TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 3 160148940 160148941 AT - DEL SMC4 ENST00000344722 human ensembl 69_37n +1 known frame_shift_del c.3061_3062 p.I1021fs 0.993:1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 31 0 0.00 16 4 20.00 - - - TMCO3 0 genome.wustl.edu 37 13 114154394 114154394 + Missense_Mutation SNP A A T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 13 114154394 114154394 A T SNP TMCO3 ENST00000434316 human ensembl 69_37n +1 known missense c.746 p.Q249L 1.000 NULL pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 56 0 0.00 41 16 28.07 - - - TP53BP1 0 genome.wustl.edu 37 15 43701236 43701236 + Missense_Mutation SNP T T C TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 15 43701236 43701236 T C SNP TP53BP1 ENST00000382044 human ensembl 69_37n -1 known missense c.5459 p.Y1820C 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 53 0 0.00 32 23 41.82 - - - VSIG1 0 genome.wustl.edu 37 X 107316026 107316026 + Missense_Mutation SNP G G C TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 X 107316026 107316026 G C SNP VSIG1 ENST00000415430 human ensembl 69_37n +1 known missense c.640 p.E214Q 0.923 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 56 0 0.00 54 26 32.50 - - - ZNF630 0 genome.wustl.edu 37 X 47926259 47926259 + Splice_Site SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 X 47926259 47926259 C T SNP ZNF630 ENST00000409324 human ensembl 69_37n -1 known splice_site c.15+1 e1+1 0.010 - - - no_errors ZNF630 HGNC ENSG00000221994 76 0 0.00 51 29 36.25 - - - ZNF816 0 genome.wustl.edu 37 19 53453802 53453802 + Missense_Mutation SNP C C A TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 377b1816-61e1-431a-9952-71e4d58bbd48 f159d3d3-831d-47ee-8fb0-7665405a5581 19 53453802 53453802 C A SNP ZNF816 ENST00000357666 human ensembl 69_37n -1 known missense c.1226 p.R409I 0.000 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 ZNF816 HGNC ENSG00000180257 66 0 0.00 43 23 34.33 - - -