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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val SGK223 0 genome.wustl.edu 37 8 8235474 8235474 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 8 8235474 8235474 G T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.445 p.P149T 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 70 0 0.00 32 16 33.33 33 0 0.00 43 13 23.21 SGK223 0 genome.wustl.edu 37 8 8185770 8185770 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 8 8185770 8185770 G T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.2522 p.A841E 0.038 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 61 0 0.00 30 14 31.82 117 0 0.00 55 20 26.67 PZP 0 genome.wustl.edu 37 12 9307325 9307325 + Missense_Mutation SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 12 9307325 9307325 C T SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.3661 p.A1221T 0.916 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,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 PZP HGNC ENSG00000126838 tier1 - - 78 0 0.00 40 15 27.27 39 0 0.00 23 8 25.81 ATP6V0A4 0 genome.wustl.edu 37 7 138432198 138432198 + Missense_Mutation SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 138432198 138432198 C T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.1292 p.R431H 0.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 tier1 - - 46 0 0.00 48 26 35.14 108 0 0.00 73 23 23.96 BRD7 0 genome.wustl.edu 37 16 50357503 50357503 + Nonsense_Mutation SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 16 50357503 50357503 C A SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known nonsense c.1438 p.E480* 0.789 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 tier1 - - 48 0 0.00 22 16 42.11 89 0 0.00 26 12 31.58 IFITM1 0 genome.wustl.edu 37 11 314332 314332 + Silent SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 11 314332 314332 C T SNP IFITM1 ENST00000328221 human ensembl 74_37 +1 known silent c.162 p.F54 0.997 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors IFITM1 HGNC ENSG00000185885 tier1 - - 55 0 0.00 52 19 26.76 35 0 0.00 15 10 40.00 USH2A 0 genome.wustl.edu 37 1 216011349 216011349 + Missense_Mutation SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 216011349 216011349 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.9355 p.R3119C 0.128 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 37 0 0.00 9 20 68.97 178 0 0.00 44 60 57.69 HTR1D 0 genome.wustl.edu 37 1 23520075 23520075 + Missense_Mutation SNP A A T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 23520075 23520075 A T SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.638 p.L213H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 tier1 - - 26 0 0.00 12 12 50.00 156 0 0.00 33 14 29.17 CECR2 0 genome.wustl.edu 37 22 18022400 18022400 + Silent SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 22 18022400 18022400 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel silent c.2502 p.V834 0.274 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 56 0 0.00 23 29 54.72 37 0 0.00 21 18 46.15 ACBD6 0 genome.wustl.edu 37 1 180257470 180257470 + R SNP T T C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 180257470 180257470 T C SNP ACBD6 ENST00000475338 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACBD6 HGNC ENSG00000135847 tier1 - - 42 0 0.00 9 27 75.00 121 0 0.00 35 36 50.70 IL20RA 0 genome.wustl.edu 37 6 137323068 137323068 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 6 137323068 137323068 G T SNP IL20RA ENST00000316649 human ensembl 74_37 -1 known missense c.1289 p.T430K 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC ENSG00000016402 tier1 - - 49 0 0.00 23 14 37.84 116 0 0.00 60 26 30.23 GPR37 0 genome.wustl.edu 37 7 124386687 124386687 + Silent SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 124386687 124386687 C A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known silent c.1734 p.V578 0.999 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 tier1 - - 54 0 0.00 22 21 48.84 133 0 0.00 69 60 46.51 CPAMD8 0 genome.wustl.edu 37 19 17086902 17086902 + Silent SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 17086902 17086902 G T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.1959 p.I653 0.097 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 26 0 0.00 32 10 23.81 23 0 0.00 35 6 14.63 IDH3A 0 genome.wustl.edu 37 15 78452504 78452504 + Missense_Mutation SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 15 78452504 78452504 C T SNP IDH3A ENST00000299518 human ensembl 74_37 +1 known missense c.245 p.S82L 0.999 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D - no_errors IDH3A HGNC ENSG00000166411 tier1 - - 42 0 0.00 24 5 17.24 123 0 0.00 80 31 27.93 C16orf96 0 genome.wustl.edu 37 16 4624985 4624985 + Missense_Mutation SNP A A T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 16 4624985 4624985 A T SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.619 p.N207Y 0.709 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 36 0 0.00 16 7 30.43 154 0 0.00 71 13 15.48 ATP8A2 0 genome.wustl.edu 37 13 26043135 26043135 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 13 26043135 26043135 G T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.97 p.G33C 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 tier1 - - 52 0 0.00 9 11 55.00 80 0 0.00 20 22 52.38 GLP1R 0 genome.wustl.edu 37 6 39040728 39040728 + Silent SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 6 39040728 39040728 C T SNP GLP1R ENST00000373256 human ensembl 74_37 +1 known silent c.600 p.A200 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 tier1 - - 53 0 0.00 29 9 23.68 86 0 0.00 60 13 17.81 DOCK6 0 genome.wustl.edu 37 19 11353984 11353984 + Missense_Mutation SNP A A C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 11353984 11353984 A C SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.1336 p.F446V 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 127 0 0.00 123 16 11.51 50 0 0.00 42 7 14.29 SRPK2 0 genome.wustl.edu 37 7 104844172 104844172 + Silent SNP T T A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 104844172 104844172 T A SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known silent c.132 p.P44 0.570 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK2 HGNC ENSG00000135250 tier1 - - 43 0 0.00 40 20 32.79 34 0 0.00 39 15 27.78 NPHP4 0 genome.wustl.edu 37 1 5924040 5924040 + Silent SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 5924040 5924040 G T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known silent c.4050 p.I1350 1.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 tier1 - - 80 0 0.00 57 22 27.85 131 0 0.00 61 24 27.91 PCDHB13 0 genome.wustl.edu 37 5 140594306 140594306 + Missense_Mutation SNP A A T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 5 140594306 140594306 A T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.611 p.E204V 0.974 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 PCDHB13 HGNC ENSG00000187372 tier1 - - 70 0 0.00 58 19 24.68 78 0 0.00 58 10 14.71 TSPAN7 0 genome.wustl.edu 37 X 38482210 38482210 + Nonstop_Mutation SNP T T A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d X 38482210 38482210 T A SNP TSPAN7 ENST00000475216 human ensembl 74_37 +1 known nonstop c.136 p.*46K 0.000 NULL NULL - no_errors TSPAN7 HGNC ENSG00000156298 tier1 - - 57 0 0.00 47 7 12.96 129 0 0.00 123 21 14.58 CYP3A4 0 genome.wustl.edu 37 7 99355784 99355784 + Nonsense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 99355784 99355784 G T SNP CYP3A4 ENST00000336411 human ensembl 74_37 -1 known nonsense c.1484 p.S495* 0.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 tier1 - - 39 0 0.00 55 7 11.29 45 0 0.00 40 9 18.37 TUBA4A 0 genome.wustl.edu 37 2 220115874 220115874 + Missense_Mutation SNP C C G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 2 220115874 220115874 C G SNP TUBA4A ENST00000248437 human ensembl 74_37 -1 known missense c.547 p.E183Q 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA4A HGNC ENSG00000127824 tier1 - - 75 0 0.00 36 13 26.53 23 0 0.00 19 4 17.39 BOD1 0 genome.wustl.edu 37 5 173036274 173036274 + Missense_Mutation SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 5 173036274 173036274 C A SNP BOD1 ENST00000311086 human ensembl 74_37 -1 known missense c.526 p.D176Y 1.000 NULL NULL - no_errors BOD1 HGNC ENSG00000145919 tier1 - - 78 0 0.00 66 16 19.51 64 1 1.54 48 16 25.00 ENSG00000248115 0 genome.wustl.edu 37 4 53822220 53822220 + R SNP T T C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 4 53822220 53822220 T C SNP ENSG00000248115 ENST00000508813 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-752D24.2 Clone_based_vega_gene ENSG00000248115 tier1 - - 44 0 0.00 33 14 29.79 121 0 0.00 73 25 25.51 MROH2B 0 genome.wustl.edu 37 5 41005734 41005734 + Missense_Mutation SNP A A T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 5 41005734 41005734 A T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.3763 p.W1255R 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 72 0 0.00 59 14 19.18 128 0 0.00 82 23 21.70 LOC285556 0 genome.wustl.edu 37 4 100574194 100574194 + Missense_Mutation SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 4 100574194 100574194 C T SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.1612 p.A538T 1.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 55 0 0.00 13 33 71.74 57 1 1.72 17 28 62.22 PKHD1 0 genome.wustl.edu 37 6 51612752 51612752 + Missense_Mutation SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 6 51612752 51612752 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.9662 p.P3221L 0.988 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 rs145141656 GMAF=0.0005 43 0 0.00 28 18 39.13 132 0 0.00 64 22 25.58 KRT6A 0 genome.wustl.edu 37 12 52886582 52886582 + Missense_Mutation SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 12 52886582 52886582 G A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.391 p.P131S 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 tier1 - - 100 0 0.00 84 15 15.15 29 0 0.00 11 6 35.29 SLC25A48 0 genome.wustl.edu 37 5 135188365 135188365 + Silent SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 5 135188365 135188365 C T SNP SLC25A48 ENST00000420621 human ensembl 74_37 +1 known silent c.276 p.C92 0.862 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A48 HGNC ENSG00000145832 tier1 - - 38 0 0.00 19 19 50.00 86 0 0.00 32 37 52.86 SCN2A 0 genome.wustl.edu 37 2 166168534 166168534 + Splice_Site SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 2 166168534 166168534 G T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known splice_site c.971-1 e7-1 1.000 - - - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 35 0 0.00 25 6 19.35 88 0 0.00 35 6 14.63 DOCK8 0 genome.wustl.edu 37 9 421060 421060 + Missense_Mutation SNP A A T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 9 421060 421060 A T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.4135 p.M1379L 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 66 0 0.00 35 14 28.57 54 0 0.00 22 10 31.25 MED12L 0 genome.wustl.edu 37 3 151107922 151107922 + Silent SNP A A G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 3 151107922 151107922 A G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known silent c.5502 p.P1834 1.000 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 57 0 0.00 49 22 30.99 107 0 0.00 73 27 27.00 POF1B 0 genome.wustl.edu 37 X 84560869 84560869 + Missense_Mutation SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d X 84560869 84560869 C A SNP POF1B ENST00000373145 human ensembl 74_37 -1 known missense c.1365 p.E455D 0.999 NULL NULL - no_errors POF1B HGNC ENSG00000124429 tier1 - - 51 0 0.00 26 8 23.53 125 0 0.00 49 12 19.67 PAGE3 0 genome.wustl.edu 37 X 55287001 55287001 + Silent SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d X 55287001 55287001 C A SNP PAGE3 ENST00000374951 human ensembl 74_37 -1 known silent c.285 p.L95 0.000 pfam_GAGE pfam_GAGE - no_errors PAGE3 HGNC ENSG00000204279 tier1 - - 246 0 0.00 240 77 24.29 113 0 0.00 88 34 27.87 BTBD11 0 genome.wustl.edu 37 12 108051405 108051405 + Silent SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 12 108051405 108051405 C A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known silent c.3225 p.T1075 0.470 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 56 0 0.00 30 20 39.22 128 0 0.00 57 23 28.75 OR2J3 0 genome.wustl.edu 37 6 29080202 29080202 + Missense_Mutation SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 6 29080202 29080202 C A SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.535 p.H179N 0.024 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 tier1 - - 65 0 0.00 57 7 10.94 86 0 0.00 58 12 17.14 IDH3A 0 genome.wustl.edu 37 15 78452499 78452499 + Silent SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 15 78452499 78452499 C T SNP IDH3A ENST00000299518 human ensembl 74_37 +1 known silent c.240 p.I80 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D - no_errors IDH3A HGNC ENSG00000166411 tier1 - - 42 0 0.00 26 5 16.13 119 0 0.00 83 32 27.83 ADAM29 0 genome.wustl.edu 37 4 175898452 175898452 + Silent SNP A A G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 4 175898452 175898452 A G SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known silent c.1776 p.G592 0.032 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 tier1 - - 47 0 0.00 27 9 25.00 144 0 0.00 67 36 34.95 NOA1 0 genome.wustl.edu 37 4 57832838 57832838 + Missense_Mutation SNP A A G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 4 57832838 57832838 A G SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known missense c.1712 p.L571S 0.996 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 tier1 - - 35 0 0.00 8 20 71.43 105 0 0.00 28 54 65.85 FBXO40 0 genome.wustl.edu 37 3 121340749 121340749 + Missense_Mutation SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 3 121340749 121340749 C A SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.473 p.P158Q 0.001 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 tier1 - - 29 0 0.00 20 8 28.57 174 1 0.57 87 34 28.10 OR13G1 0 genome.wustl.edu 37 1 247836034 247836034 + Missense_Mutation SNP A A T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 247836034 247836034 A T SNP OR13G1 ENST00000359688 human ensembl 74_37 -1 known missense c.310 p.S104T 0.390 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR13G1 HGNC ENSG00000197437 tier1 - - 45 0 0.00 24 3 11.11 105 0 0.00 43 7 14.00 CAMK2B 0 genome.wustl.edu 37 7 44294196 44294196 + Missense_Mutation SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 44294196 44294196 C A SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known missense c.286 p.G96W 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2B HGNC ENSG00000058404 tier1 - - 47 0 0.00 52 13 20.00 60 0 0.00 72 14 16.28 HDC 0 genome.wustl.edu 37 15 50534992 50534992 + Missense_Mutation SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 15 50534992 50534992 G A SNP HDC ENST00000267845 human ensembl 74_37 -1 known missense c.1454 p.P485L 0.924 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 tier1 - - 42 0 0.00 14 12 46.15 90 0 0.00 27 26 49.06 LOC285556 0 genome.wustl.edu 37 4 100575157 100575157 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 4 100575157 100575157 G T SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.649 p.H217N 0.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 39 0 0.00 19 5 20.83 92 0 0.00 50 18 26.47 CD1C 0 genome.wustl.edu 37 1 158261127 158261127 + Missense_Mutation SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 158261127 158261127 C T SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.265 p.R89C 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 tier1 rs145638725 - 62 0 0.00 14 25 64.10 129 0 0.00 31 45 58.44 WNK3 0 genome.wustl.edu 37 X 54263641 54263641 + Missense_Mutation SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d X 54263641 54263641 G A SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.4358 p.S1453F 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 tier1 - - 61 0 0.00 36 37 50.68 77 0 0.00 36 39 51.32 FABP1 0 genome.wustl.edu 37 2 88427556 88427556 + R SNP C C G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 2 88427556 88427556 C G SNP FABP1 ENST00000495375 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FABP1 HGNC ENSG00000163586 tier1 - - 43 0 0.00 32 13 28.89 69 0 0.00 38 14 26.92 ENSG00000268032 0 genome.wustl.edu 37 19 18142570 18142570 + R SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 18142570 18142570 G T SNP ENSG00000268032 ENST00000594957 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTB-52I2.4 Clone_based_vega_gene ENSG00000268032 tier1 - - 36 0 0.00 55 13 19.12 107 0 0.00 136 31 18.56 ASPHD2 0 genome.wustl.edu 37 22 26839163 26839163 + Silent SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 22 26839163 26839163 G T SNP ASPHD2 ENST00000215906 human ensembl 74_37 +1 known silent c.1101 p.P367 0.006 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 tier1 - - 36 0 0.00 30 5 14.29 105 0 0.00 65 11 14.47 HNRNPM 0 genome.wustl.edu 37 19 8553897 8553897 + R SNP G G C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 8553897 8553897 G C SNP HNRNPM ENST00000602219 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HNRNPM HGNC ENSG00000099783 tier1 - - 82 0 0.00 81 15 15.62 116 0 0.00 118 26 17.81 FAM186B 0 genome.wustl.edu 37 12 49993263 49993263 + Silent SNP G G C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 12 49993263 49993263 G C SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known silent c.2160 p.L720 0.996 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 tier1 - - 53 0 0.00 42 6 12.50 107 0 0.00 39 19 32.76 ATRX 0 genome.wustl.edu 37 X 76909587 76909587 + Splice_Site SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d X 76909587 76909587 C T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known splice_site c.4317+1 e14+1 1.000 - - - no_errors ATRX HGNC ENSG00000085224 tier1 - - 33 0 0.00 10 16 61.54 170 0 0.00 34 69 66.99 TENM4 0 genome.wustl.edu 37 11 78497988 78497988 + Nonsense_Mutation SNP T T A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 11 78497988 78497988 T A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known nonsense c.2320 p.K774* 1.000 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 78 0 0.00 51 16 23.88 16 0 0.00 12 2 14.29 BMS1P8 0 genome.wustl.edu 37 16 33490022 33490022 + R SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 16 33490022 33490022 G T SNP BMS1P8 ENST00000567036 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 - - 17 0 0.00 14 5 26.32 113 0 0.00 84 12 12.50 ZNF85 0 genome.wustl.edu 37 19 21131580 21131580 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 21131580 21131580 G T SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.260 p.W87L 0.001 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 ZNF85 HGNC ENSG00000105750 tier1 - - 50 0 0.00 75 8 9.64 40 0 0.00 51 7 12.07 MUC17 0 genome.wustl.edu 37 7 100679631 100679631 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 100679631 100679631 G T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.4934 p.S1645I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 81 0 0.00 82 21 20.39 29 0 0.00 28 5 15.15 RGN 0 genome.wustl.edu 37 X 46952420 46952420 + R SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d X 46952420 46952420 G T SNP RGN ENST00000475448 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors RGN HGNC ENSG00000130988 tier1 - - 76 0 0.00 74 14 15.91 134 0 0.00 80 30 27.27 LPAR3 0 genome.wustl.edu 37 1 85331339 85331339 + Silent SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 85331339 85331339 G A SNP LPAR3 ENST00000370611 human ensembl 74_37 -1 known silent c.465 p.I155 0.583 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 tier1 - - 35 0 0.00 33 10 23.26 121 1 0.82 38 23 37.70 CCDC144CP 0 genome.wustl.edu 37 17 20239613 20239613 + R SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 17 20239613 20239613 G T SNP CCDC144CP ENST00000340196 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CCDC144CP HGNC ENSG00000154898 tier1 - - 13 0 0.00 7 4 36.36 31 0 0.00 18 6 25.00 SPEF2 0 genome.wustl.edu 37 5 35700617 35700617 + Missense_Mutation SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 5 35700617 35700617 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.2161 p.D721N 0.819 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 25 0 0.00 26 11 29.73 108 0 0.00 65 23 26.14 SCN9A 0 genome.wustl.edu 37 2 167085227 167085227 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 2 167085227 167085227 G T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.4183 p.L1395I 0.994 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 57 0 0.00 9 21 70.00 158 0 0.00 40 34 45.95 ADAM22 0 genome.wustl.edu 37 7 87774475 87774475 + Silent SNP T T A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 87774475 87774475 T A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known silent c.1356 p.I452 1.000 pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 69 0 0.00 83 18 17.82 97 0 0.00 72 20 21.74 DCC 0 genome.wustl.edu 37 18 50985690 50985690 + Missense_Mutation SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 18 50985690 50985690 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3481 p.E1161K 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 40 0 0.00 27 9 25.00 108 0 0.00 47 31 39.74 GMFG 0 genome.wustl.edu 37 19 39819656 39819656 + Missense_Mutation SNP G G C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 39819656 39819656 G C SNP GMFG ENST00000597595 human ensembl 74_37 -1 known missense c.341 p.T114R 0.996 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFG HGNC ENSG00000130755 tier1 - - 41 0 0.00 41 6 12.77 112 0 0.00 100 14 12.28 DRD3 0 genome.wustl.edu 37 3 113850079 113850079 + Missense_Mutation SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 3 113850079 113850079 C A SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.892 p.V298F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 tier1 - - 86 0 0.00 34 11 24.44 140 0 0.00 69 21 23.33 ACRBP 0 genome.wustl.edu 37 12 6753720 6753720 + Missense_Mutation SNP A A C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 12 6753720 6753720 A C SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known missense c.527 p.V176G 0.979 pfam_Proacrosin-bd pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 tier1 - - 55 0 0.00 11 29 72.50 54 0 0.00 18 34 65.38 SPHKAP 0 genome.wustl.edu 37 2 228883837 228883837 + Missense_Mutation SNP T T C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 2 228883837 228883837 T C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.1733 p.E578G 0.995 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 27 0 0.00 16 7 30.43 61 0 0.00 28 8 22.22 CAC1B 0 genome.wustl.edu 37 9 140852096 140852096 + Silent SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 9 140852096 140852096 C T SNP CAC1B ENST00000371355 human ensembl 74_37 +1 known silent c.1293 p.H431 0.995 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CAC1B HGNC ENSG00000148408 tier1 - - 20 0 0.00 4 16 80.00 68 1 1.45 17 29 63.04 OR1L1 0 genome.wustl.edu 37 9 125424787 125424787 + Missense_Mutation SNP A A T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 9 125424787 125424787 A T SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.943 p.N315Y 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC ENSG00000173679 tier1 - - 34 0 0.00 15 17 53.12 119 0 0.00 34 53 60.92 ZNF343 0 genome.wustl.edu 37 20 2473378 2473378 + Missense_Mutation SNP T T A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 20 2473378 2473378 T A SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known missense c.271 p.M91L 0.468 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF343 HGNC ENSG00000088876 tier1 - - 49 0 0.00 34 14 29.17 105 0 0.00 54 27 32.93 SNRPE 0 genome.wustl.edu 37 1 203830841 203830841 + Missense_Mutation SNP C C G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 203830841 203830841 C G SNP SNRPE ENST00000414487 human ensembl 74_37 +1 known missense c.54 p.I18M 1.000 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPE HGNC ENSG00000182004 tier1 - - 46 0 0.00 9 30 76.92 116 0 0.00 18 41 69.49 PIK3CB 0 genome.wustl.edu 37 3 138478102 138478102 + Silent SNP G G C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 3 138478102 138478102 G C SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known silent c.84 p.G28 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,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 PIK3CB HGNC ENSG00000051382 tier1 - - 40 0 0.00 16 13 44.83 122 0 0.00 74 15 16.85 PHKA1 0 genome.wustl.edu 37 X 71800880 71800880 + Missense_Mutation SNP A A C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d X 71800880 71800880 A C SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.3695 p.L1232R 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 tier1 - - 124 0 0.00 112 17 13.18 97 0 0.00 85 13 13.27 NME9 0 genome.wustl.edu 37 3 138037031 138037031 + Nonsense_Mutation SNP T T A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 3 138037031 138037031 T A SNP NME9 ENST00000333911 human ensembl 74_37 -1 known nonsense c.226 p.K76* 0.992 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME9 HGNC ENSG00000181322 tier1 - - 39 0 0.00 30 5 14.29 121 0 0.00 76 26 25.49 PCDHAC2 0 genome.wustl.edu 37 5 140348132 140348132 + Missense_Mutation SNP T T G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 5 140348132 140348132 T G SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.1781 p.V594G 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 tier1 - - 24 0 0.00 21 6 22.22 140 0 0.00 116 20 14.71 DJC13 0 genome.wustl.edu 37 3 132235548 132235548 + Missense_Mutation SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 3 132235548 132235548 G A SNP DJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.5561 p.G1854D 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DJC13 HGNC ENSG00000138246 tier1 - - 41 0 0.00 28 3 9.68 94 1 1.05 50 16 24.24 PAQR9 0 genome.wustl.edu 37 3 142681480 142681480 + Silent SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 3 142681480 142681480 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known silent c.699 p.T233 0.168 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 tier1 - - 31 0 0.00 17 11 39.29 28 0 0.00 22 14 38.89 PMFBP1 0 genome.wustl.edu 37 16 72166711 72166711 + Silent SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 16 72166711 72166711 C A SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known silent c.1383 p.L461 0.017 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 tier1 - - 54 0 0.00 18 12 40.00 65 0 0.00 23 9 28.12 ZNF724P 0 genome.wustl.edu 37 19 23405795 23405795 + Missense_Mutation SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 23405795 23405795 C T SNP ZNF724P ENST00000418100 human ensembl 74_37 -1 novel missense c.1252 p.G418R 1.000 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 ZNF724P HGNC ENSG00000196081 tier1 - - 49 0 0.00 40 11 21.57 36 0 0.00 35 10 22.22 GLTSCR2 0 genome.wustl.edu 37 19 48248837 48248837 + Silent SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 48248837 48248837 C T SNP GLTSCR2 ENST00000246802 human ensembl 74_37 +1 known silent c.21 p.G7 0.000 pirsf_Gltscr2 pfam_P60-like,pirsf_Gltscr2 - no_errors GLTSCR2 HGNC ENSG00000105373 tier1 - - 173 0 0.00 81 40 32.79 30 0 0.00 20 11 35.48 PRKXP1 0 genome.wustl.edu 37 15 101088251 101088254 + R DEL AACA AACA - TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 AACA AACA AACA - AACA AACA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 15 101088251 101088254 AACA - DEL PRKXP1 ENST00000602585 human ensembl 74_37 -1 known rna NULL NULL 0.118:0.119:0.119:0.117 - - - no_errors RP11-526I2.5 Clone_based_vega_gene ENSG00000270127 tier1 23 0 0.00 8 10 55.56 43 0 0.00 18 18 50.00 IP6K3 0 genome.wustl.edu 37 6 33703226 33703226 + Missense_Mutation SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 6 33703226 33703226 C T SNP IP6K3 ENST00000293756 human ensembl 74_37 -1 known missense c.28 p.G10R 0.440 NULL pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 tier1 rs141301327 - 44 0 0.00 16 36 69.23 24 0 0.00 3 20 86.96 LOC101928780 0 genome.wustl.edu 37 19 54628083 54628083 + R SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 54628083 54628083 C A SNP LOC101928780 ENST00000452097 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 tier1 - - 73 0 0.00 52 15 22.39 20 0 0.00 9 3 25.00 MUC4 0 genome.wustl.edu 37 3 195509808 195509808 + Silent SNP A A G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 3 195509808 195509808 A G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.8643 p.L2881 0.086 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 219 0 0.00 113 58 33.92 11 0 0.00 9 3 25.00 SYNE1 0 genome.wustl.edu 37 6 152763261 152763261 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 6 152763261 152763261 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.3957 p.S1319R 0.774 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 25 0 0.00 9 7 43.75 8 0 0.00 5 2 28.57 PELO 0 genome.wustl.edu 37 5 52096725 52096725 + Missense_Mutation SNP A A T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 5 52096725 52096725 A T SNP PELO ENST00000274311 human ensembl 74_37 +1 known missense c.497 p.N166I 1.000 pfam_eRF1_2,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 tier1 - - 30 0 0.00 18 6 25.00 93 0 0.00 67 7 9.46 CXorf30 0 genome.wustl.edu 37 X 36371692 36371692 + Missense_Mutation SNP T T G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d X 36371692 36371692 T G SNP CXorf30 ENST00000378657 human ensembl 74_37 +1 known missense c.1085 p.I362S 0.004 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 tier1 - - 55 0 0.00 55 12 17.91 128 0 0.00 80 8 9.09 ADAMTS20 0 genome.wustl.edu 37 12 43821218 43821218 + Nonsense_Mutation SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 12 43821218 43821218 C A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known nonsense c.4000 p.E1334* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 43 0 0.00 37 4 9.76 110 0 0.00 86 4 4.44 SLCO5A1 0 genome.wustl.edu 37 8 70650332 70650332 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 8 70650332 70650332 G T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.1366 p.P456T 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 tier1 - - 43 0 0.00 37 5 11.90 165 2 1.20 99 21 17.50 SRPK2 0 genome.wustl.edu 37 7 104844171 104844171 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 104844171 104844171 G T SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.133 p.P45T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK2 HGNC ENSG00000135250 tier1 - - 43 0 0.00 41 20 32.79 35 1 2.78 39 15 27.78 OR12D2 0 genome.wustl.edu 37 6 29365079 29365079 + Silent SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 6 29365079 29365079 G T SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known silent c.603 p.T201 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 tier1 - - 23 0 0.00 17 11 39.29 95 0 0.00 41 20 32.79 ATXN1 0 genome.wustl.edu 37 6 16327956 16327956 + Missense_Mutation SNP C C G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 6 16327956 16327956 C G SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.586 p.E196Q 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 tier1 - - 37 0 0.00 21 4 14.81 10 0 0.00 3 0 0.00 FAR2 0 genome.wustl.edu 37 12 29449969 29449969 + Silent SNP T T C TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 12 29449969 29449969 T C SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known silent c.381 p.L127 0.237 pfam_Male_sterile_D-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like pfam_Male_sterile_D-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 tier1 - - 31 0 0.00 18 3 14.29 10 0 0.00 4 0 0.00 IPO13 0 genome.wustl.edu 37 1 44415575 44415575 + Silent SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 44415575 44415575 C A SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known silent c.571 p.R191 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 tier1 - - 49 0 0.00 39 12 23.53 9 0 0.00 1 0 0.00 PIEZO1 0 genome.wustl.edu 37 16 88800395 88800395 + Missense_Mutation SNP C C G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 16 88800395 88800395 C G SNP PIEZO1 ENST00000301015 human ensembl 74_37 -1 novel missense c.2248 p.E750Q 0.340 NULL pfam_Piezo - no_errors PIEZO1 HGNC ENSG00000103335 tier1 rs202139830 - 43 0 0.00 15 4 21.05 14 0 0.00 1 1 50.00 PLA2G4F 0 genome.wustl.edu 37 15 42448730 42448730 + Nonsense_Mutation SNP C C T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 15 42448730 42448730 C T SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known nonsense c.18 p.W6* 0.933 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 tier1 - - 43 0 0.00 26 4 13.33 11 0 0.00 3 0 0.00 SSPO 0 genome.wustl.edu 37 7 149489488 149489488 + R SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 149489488 149489488 C A SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 98 0 0.00 63 18 22.22 6 0 0.00 4 0 0.00 ZNF733P 0 genome.wustl.edu 37 7 62752861 62752861 + R SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 7 62752861 62752861 G A SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 tier1 - - 43 0 0.00 48 12 20.00 8 0 0.00 8 0 0.00 GOLGA6L4 0 genome.wustl.edu 37 15 82932257 82932288 + R DEL ACACAAATAAATTTAAACTATAAATTAGAAAC ACACAAATAAATTTAAACTATAAATTAGAAAC - TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 ACACAAATAAATTTAAACTATAAATTAGAAAC ACACAAATAAATTTAAACTATAAATTAGAAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 15 82932257 82932288 ACACAAATAAATTTAAACTATAAATTAGAAAC - DEL GOLGA6L4 ENST00000560844 human ensembl 74_37 -1 known rna NULL NULL 0.140:0.148:0.154:0.160:0.165:0.169:0.172:0.175:0.177:0.178:0.179:0.179:0.180:0.179:0.135:0.131:0.126:0.121:0.112:0.097:0.077:0.050:0.041:0.040:0.045:0.047:0.048:0.046:0.049:0.052:0.050:0.046 - - - no_errors RP13-996F3.5 Clone_based_vega_gene ENSG00000215749 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 KCNQ4 0 genome.wustl.edu 37 1 41304460 41304460 + R SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 41304460 41304460 G T SNP KCNQ4 ENST00000506017 human ensembl 74_37 +1 known rna NULL NULL 0.354 - - - no_errors KCNQ4 HGNC ENSG00000117013 tier1 - - 32 0 0.00 15 11 42.31 3 0 0.00 0 0 0.00 MT-ND6 0 genome.wustl.edu 37 MT 14569 14569 + Silent SNP G G A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d MT 14569 14569 G A SNP MT-ND6 ENST00000361681 human ensembl 74_37 -1 known silent c.105 p.S35 NULL pfam_DH_UbQ/plastoQ_OxRdtase_su6 pfam_DH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC ENSG00000198695 tier1 - - 447 1 0.22 103 293 73.99 0 0 0.00 0 0 0.00 OR7E94P 0 genome.wustl.edu 37 4 80508906 80508907 + R INS - - AA TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 4 80508906 80508907 - AA INS OR7E94P ENST00000601375 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.015 - - - no_errors OR7E94P HGNC ENSG00000249646 tier1 16 0 0.00 15 3 16.67 2 0 0.00 1 0 0.00 SLC22A17 0 genome.wustl.edu 37 14 23822003 23822003 + R SNP C C G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 14 23822003 23822003 C G SNP SLC22A17 ENST00000474057 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors SLC22A17 HGNC ENSG00000092096 tier1 - - 43 0 0.00 10 17 62.96 0 0 0.00 2 0 0.00 TM6SF2 0 genome.wustl.edu 37 19 19384023 19384023 + Missense_Mutation SNP A A G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 19 19384023 19384023 A G SNP TM6SF2 ENST00000389363 human ensembl 74_37 -1 known missense c.2 p.M1T 0.994 NULL pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 tier1 - - 11 0 0.00 11 7 38.89 2 0 0.00 2 0 0.00 TNFRSF1B 0 genome.wustl.edu 37 1 12251943 12251943 + Silent SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 12251943 12251943 G T SNP TNFRSF1B ENST00000376259 human ensembl 74_37 +1 known silent c.420 p.L140 0.008 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC ENSG00000028137 tier1 - - 29 0 0.00 32 4 11.11 1 0 0.00 4 0 0.00 CNOT6 0 genome.wustl.edu 37 5 179921643 179921643 + R SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 5 179921643 179921643 C A SNP CNOT6 ENST00000507016 human ensembl 74_37 +1 putative rna NULL NULL 0.998 - - - no_errors CNOT6 HGNC ENSG00000113300 tier1 - - 22 0 0.00 11 7 38.89 4 0 0.00 4 5 55.56 HIVEP3 0 genome.wustl.edu 37 1 41976281 41976281 + Silent SNP A A G TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 1 41976281 41976281 A G SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.7062 p.S2354 0.168 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 48 0 0.00 18 6 25.00 3 0 0.00 5 4 44.44 ZAK 0 genome.wustl.edu 37 2 174085893 174085893 + Missense_Mutation SNP G G T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 2 174085893 174085893 G T SNP ZAK ENST00000338983 human ensembl 74_37 +1 known missense c.1003 p.A335S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 tier1 - - 66 0 0.00 50 5 9.09 83 0 0.00 43 2 4.44 AGGF1 0 genome.wustl.edu 37 5 76358970 76358970 + Nonsense_Mutation SNP A A T TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 5 76358970 76358970 A T SNP AGGF1 ENST00000312916 human ensembl 74_37 +1 known nonsense c.2038 p.K680* 1.000 NULL pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 tier1 - - 29 0 0.00 21 8 27.59 61 0 0.00 33 3 8.33 PLD1 0 genome.wustl.edu 37 3 171455451 171455452 + Splice_Site INS - - A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68092db5-7dc6-4600-a753-460a962693ac 7e653b4b-2223-4e17-8e5f-6af07a25792d 3 171455451 171455452 - A INS PLD1 ENST00000351298 human ensembl 74_37 -1 known splice_site_ins c.161-3_161-2 e2-2 0.999:0.901 - - - no_errors PLD1 HGNC ENSG00000075651 tier1 35 0 0.00 25 4 13.79 66 0 0.00 33 2 5.71