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 BGN 0 genome.wustl.edu 37 X 152770766 152770766 + Silent SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 X 152770766 152770766 C T SNP BGN ENST00000331595 human ensembl 69_37n +1 known silent c.309 p.S103 0.000 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors BGN HGNC ENSG00000182492 43 0 0.00 13 7 35.00 - - - CALCOCO1 0 genome.wustl.edu 37 12 54110179 54110179 + Silent SNP T T C TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 12 54110179 54110179 T C SNP CALCOCO1 ENST00000550804 human ensembl 69_37n -1 known silent c.870 p.Q290 0.991 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 76 0 0.00 25 19 43.18 - - - CBFB 0 genome.wustl.edu 37 16 67063695 67063695 + Frame_Shift_Del DEL C C - TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 16 67063695 67063695 C - DEL CBFB ENST00000290858 human ensembl 69_37n +1 known frame_shift_del c.144 p.R49fs 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 8 0 0.00 0 3 100.00 - - - CELSR1 0 genome.wustl.edu 37 22 46763749 46763749 + Silent SNP G G T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 22 46763749 46763749 G T SNP CELSR1 ENST00000262738 human ensembl 69_37n -1 known silent c.7956 p.S2652 0.997 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 21 0 0.00 11 5 31.25 - - - CIT 0 genome.wustl.edu 37 12 120128239 120128239 + Missense_Mutation SNP G G A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 12 120128239 120128239 G A SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.5777 p.P1926L 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 20 0 0.00 14 6 30.00 - - - CNKSR2 0 genome.wustl.edu 37 X 21450902 21450902 + Missense_Mutation SNP C C A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 X 21450902 21450902 C A SNP CNKSR2 ENST00000379510 human ensembl 69_37n +1 known missense c.401 p.A134E 1.000 pfam_CRIC_domain_Chordata pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 97 0 0.00 56 17 23.29 - - - COMMD7 0 genome.wustl.edu 37 20 31315732 31315732 + Missense_Mutation SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 20 31315732 31315732 C T SNP COMMD7 ENST00000278980 human ensembl 69_37n -1 known missense c.209 p.S70N 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC ENSG00000149600 112 0 0.00 77 38 33.04 - - - ELF4 0 genome.wustl.edu 37 X 129203349 129203349 + Silent SNP G G A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 X 129203349 129203349 G A SNP ELF4 ENST00000308167 human ensembl 69_37n -1 known silent c.1113 p.D371 0.000 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF4 HGNC ENSG00000102034 62 0 0.00 24 9 27.27 - - - FAM135B 0 genome.wustl.edu 37 8 139164077 139164077 + Nonsense_Mutation SNP T T A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 8 139164077 139164077 T A SNP FAM135B ENST00000395297 human ensembl 69_37n -1 known nonsense c.2641 p.K881* 0.003 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 77 0 0.00 65 21 24.42 - - - FLG 0 genome.wustl.edu 37 1 152280087 152280087 + Missense_Mutation SNP C C G TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 1 152280087 152280087 C G SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.7275 p.E2425D 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 238 0 0.00 288 43 12.99 - - - FMO3 0 genome.wustl.edu 37 1 171086558 171086558 + Silent SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 1 171086558 171086558 C T SNP FMO3 ENST00000367755 human ensembl 69_37n +1 known silent c.1575 p.I525 0.960 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 179 0 0.00 203 24 10.57 - - - FOXJ3 0 genome.wustl.edu 37 1 42657000 42657000 + Missense_Mutation SNP G G C TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 1 42657000 42657000 G C SNP FOXJ3 ENST00000361346 human ensembl 69_37n -1 known missense c.1325 p.P442R 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 276 0 0.00 96 78 44.57 - - - GATA3 0 genome.wustl.edu 37 10 8115719 8115720 + Frame_Shift_Del DEL TA TA - TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 10 8115719 8115720 TA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1068_1069 p.M357fs 0.993:1.000 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 32 0 0.00 15 7 31.82 - - - GIP 0 genome.wustl.edu 37 17 47038347 47038347 + Missense_Mutation SNP G G A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 17 47038347 47038347 G A SNP GIP ENST00000357424 human ensembl 69_37n -1 known missense c.353 p.S118F 0.108 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GIP HGNC ENSG00000159224 55 0 0.00 33 8 19.51 - - - KAT8 0 genome.wustl.edu 37 16 31138663 31138663 + Missense_Mutation SNP C C G TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 16 31138663 31138663 C G SNP KAT8 ENST00000448516 human ensembl 69_37n +1 known missense c.670 p.R224G 1.000 superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 41 0 0.00 60 9 13.04 - - - LCT 0 genome.wustl.edu 37 2 136566446 136566446 + Silent SNP G G T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 2 136566446 136566446 G T SNP LCT ENST00000264162 human ensembl 69_37n -1 known silent c.3471 p.P1157 0.993 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 54 0 0.00 32 6 15.79 - - - LRFN5 0 genome.wustl.edu 37 14 42360748 42360748 + Missense_Mutation SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 14 42360748 42360748 C T SNP LRFN5 ENST00000298119 human ensembl 69_37n +1 known missense c.1681 p.H561Y 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN5 HGNC ENSG00000165379 64 0 0.00 52 20 27.78 - - - MACF1 0 genome.wustl.edu 37 1 39797089 39797089 + Missense_Mutation SNP A A G TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 1 39797089 39797089 A G SNP MACF1 ENST00000567887 human ensembl 69_37n +1 putative missense c.4940 p.Q1647R 0.982 pfam_Plectin_repeat,superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 40 0 0.00 10 4 28.57 - - - MDC1 0 genome.wustl.edu 37 6 30671982 30671982 + Missense_Mutation SNP G G A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 6 30671982 30671982 G A SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known missense c.4978 p.L1660F 0.001 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 102 0 0.00 36 46 56.10 - - - MED22 0 genome.wustl.edu 37 9 136211091 136211091 + Missense_Mutation SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 9 136211091 136211091 C T SNP MED22 ENST00000343730 human ensembl 69_37n -1 known missense c.302 p.R101H 0.997 NULL NULL - no_errors MED22 HGNC ENSG00000148297 47 0 0.00 30 7 18.92 - - - MUC12 0 genome.wustl.edu 37 7 100647276 100647276 + Missense_Mutation SNP C C A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 7 100647276 100647276 C A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.13861 p.P4621T 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 58 0 0.00 9 3 25.00 - - - NOL11 0 genome.wustl.edu 37 17 65714064 65714064 + Missense_Mutation SNP A A C TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 17 65714064 65714064 A C SNP NOL11 ENST00000253247 human ensembl 69_37n +1 known missense c.1 p.M1L 1.000 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 24 0 0.00 21 6 22.22 - - - NUTF2 0 genome.wustl.edu 37 16 67902251 67902251 + Silent SNP G G A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 16 67902251 67902251 G A SNP NUTF2 ENST00000219169 human ensembl 69_37n +1 known silent c.108 p.A36 0.964 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NUTF2 HGNC ENSG00000102898 88 0 0.00 9 55 85.94 - - - OPLAH 0 genome.wustl.edu 37 8 145108232 145108232 + RNA SNP G G A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 8 145108232 145108232 G A SNP OPLAH ENST00000426825 human ensembl 69_37n -1 known rna NULL NULL 0.960 - - - no_errors OPLAH HGNC ENSG00000178814 28 0 0.00 23 16 41.03 - - - OR10H5 0 genome.wustl.edu 37 19 15904918 15904918 + Silent SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 19 15904918 15904918 C T SNP OR10H5 ENST00000308940 human ensembl 69_37n +1 known silent c.60 p.F20 0.994 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10H5 HGNC ENSG00000172519 192 0 0.00 56 26 31.71 - - - OR2T2 0 genome.wustl.edu 37 1 248616764 248616764 + Silent SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 1 248616764 248616764 C T SNP OR2T2 ENST00000342927 human ensembl 69_37n +1 known silent c.666 p.I222 0.001 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 OR2T2 HGNC ENSG00000196240 70 0 0.00 32 7 17.95 - - - OR51E1 0 genome.wustl.edu 37 11 4674561 4674561 + Missense_Mutation SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 11 4674561 4674561 C T SNP OR51E1 ENST00000396952 human ensembl 69_37n +1 known missense c.805 p.R269W 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 OR51E1 HGNC ENSG00000180785 113 0 0.00 40 43 51.81 - - - OR5L2 0 genome.wustl.edu 37 11 55595368 55595368 + Missense_Mutation SNP T T A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 11 55595368 55595368 T A SNP OR5L2 ENST00000378397 human ensembl 69_37n +1 known missense c.674 p.I225N 0.988 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 OR5L2 HGNC ENSG00000205030 100 0 0.00 65 34 33.66 - - - PHC3 0 genome.wustl.edu 37 3 169889120 169889120 + Silent SNP T T C TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 3 169889120 169889120 T C SNP PHC3 ENST00000497658 human ensembl 69_37n -1 known silent c.455 p.*152 0.119 NULL NULL - no_errors PHC3 HGNC ENSG00000173889 16 0 0.00 14 5 26.32 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 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 57 0 0.00 6 47 88.68 - - - PRKCD 0 genome.wustl.edu 37 3 53223073 53223073 + Splice_Site SNP G G C TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 3 53223073 53223073 G C SNP PRKCD ENST00000330452 human ensembl 69_37n +1 known splice_site c.1555-1 e15-1 1.000 - - - no_errors PRKCD HGNC ENSG00000163932 87 0 0.00 5 73 93.59 - - - PTGR2 0 genome.wustl.edu 37 14 74340785 74340785 + Silent SNP A A G TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 14 74340785 74340785 A G SNP PTGR2 ENST00000267568 human ensembl 69_37n +1 known silent c.216 p.Q72 1.000 superfamily_GroES-like pfam_ADH_C,superfamily_GroES-like - no_errors PTGR2 HGNC ENSG00000140043 112 0 0.00 37 54 59.34 - - - RB1 0 genome.wustl.edu 37 13 48953760 48953760 + Nonsense_Mutation SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 13 48953760 48953760 C T SNP RB1 ENST00000267163 human ensembl 69_37n +1 known nonsense c.1363 p.R455* 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 25 0 0.00 1 9 90.00 - - - SLC22A17 0 genome.wustl.edu 37 14 23818534 23818534 + Missense_Mutation SNP C C A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 14 23818534 23818534 C A SNP SLC22A17 ENST00000206544 human ensembl 69_37n -1 known missense c.473 p.R158L 0.997 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 26 0 0.00 31 9 22.50 - - - SLC40A1 0 genome.wustl.edu 37 2 190437615 190437615 + Nonsense_Mutation SNP A A C TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 2 190437615 190437615 A C SNP SLC40A1 ENST00000261024 human ensembl 69_37n -1 known nonsense c.344 p.L115* 1.000 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 32 0 0.00 11 8 42.11 - - - SLCO1B3 0 genome.wustl.edu 37 12 21028243 21028243 + Missense_Mutation SNP T T C TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 12 21028243 21028243 T C SNP SLCO1B3 ENST00000553473 human ensembl 69_37n +1 known missense c.802 p.F268L 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 233 0 0.00 134 100 42.74 - - - TBCD 0 genome.wustl.edu 37 17 80730364 80730364 + Missense_Mutation SNP G G T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 17 80730364 80730364 G T SNP TBCD ENST00000355528 human ensembl 69_37n +1 known missense c.619 p.A207S 0.999 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 160 0 0.00 33 57 63.33 - - - THBS1 0 genome.wustl.edu 37 15 39886561 39886561 + Frame_Shift_Del DEL C C - TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 15 39886561 39886561 C - DEL THBS1 ENST00000260356 human ensembl 69_37n +1 known frame_shift_del c.3425 p.Y1143fs 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 86 0 0.00 30 7 18.92 - - - TLR3 0 genome.wustl.edu 37 4 187004668 187004668 + Missense_Mutation SNP G G C TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 4 187004668 187004668 G C SNP TLR3 ENST00000296795 human ensembl 69_37n +1 known missense c.1828 p.V610L 0.002 smart_Leu-rich_rpt_typical-subtyp 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 TLR3 HGNC ENSG00000164342 42 0 0.00 35 10 22.22 - - - TLR5 0 genome.wustl.edu 37 1 223285350 223285350 + Missense_Mutation SNP T T G TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 1 223285350 223285350 T G SNP TLR5 ENST00000342210 human ensembl 69_37n -1 known missense c.1024 p.N342H 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp 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 TLR5 HGNC ENSG00000187554 45 0 0.00 87 13 13.00 - - - TNRC18 0 genome.wustl.edu 37 7 5352635 5352635 + Silent SNP T T G TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 7 5352635 5352635 T G SNP TNRC18 ENST00000399537 human ensembl 69_37n -1 known silent c.7887 p.S2629 0.749 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 8 0 0.00 2 5 62.50 - - - TRPC7 0 genome.wustl.edu 37 5 135651308 135651308 + Missense_Mutation SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 5 135651308 135651308 C T SNP TRPC7 ENST00000513104 human ensembl 69_37n -1 known missense c.940 p.A314T 1.000 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,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 89 0 0.00 87 23 20.91 - - - TTN 0 genome.wustl.edu 37 2 179458370 179458370 + Missense_Mutation SNP G G A TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 2 179458370 179458370 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.50953 p.R16985W 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 73 0 0.00 32 18 36.00 - - - TTN 0 genome.wustl.edu 37 2 179536934 179536934 + Missense_Mutation SNP T T C TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 2 179536934 179536934 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.31088 p.E10363G 0.004 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 50 0 0.00 24 14 36.84 - - - XPO7 0 genome.wustl.edu 37 8 21837630 21837630 + Missense_Mutation SNP A A T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 8 21837630 21837630 A T SNP XPO7 ENST00000434536 human ensembl 69_37n +1 known missense c.900 p.R300S 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 105 0 0.00 107 20 15.75 - - - ZAP70 0 genome.wustl.edu 37 2 98354503 98354503 + Missense_Mutation SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 2 98354503 98354503 C T SNP ZAP70 ENST00000264972 human ensembl 69_37n +1 known missense c.1669 p.R557W 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_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors ZAP70 HGNC ENSG00000115085 73 0 0.00 27 9 25.00 - - - ZNF555 0 genome.wustl.edu 37 19 2852514 2852514 + Missense_Mutation SNP G G T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 19 2852514 2852514 G T SNP ZNF555 ENST00000334241 human ensembl 69_37n +1 known missense c.451 p.V151F 0.073 NULL 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 ZNF555 HGNC ENSG00000186300 70 0 0.00 37 13 26.00 - - - ZNF710 0 genome.wustl.edu 37 15 90611283 90611283 + Missense_Mutation SNP C C T TCGA-E9-A1RC-01A-11D-A159-09 TCGA-E9-A1RC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6 2c3fdd88-5419-495a-b52b-45fd9de1bd51 15 90611283 90611283 C T SNP ZNF710 ENST00000268154 human ensembl 69_37n +1 known missense c.914 p.T305M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 39 0 0.00 16 28 63.64 - - -