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 FRG2B 0 genome.wustl.edu 37 10 135438937 135438937 + Missense_Mutation SNP G G A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 10 135438937 135438937 G A SNP FRG2B ENST00000425520 human ensembl 74_37 -1 known missense c.503 p.T168I 0.147 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 tier1 - - 97 0 0.00 100 38 27.54 104 0 0.00 45 16 26.23 LOXHD1 0 genome.wustl.edu 37 18 44114401 44114401 + Missense_Mutation SNP C C T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 18 44114401 44114401 C T SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.4109 p.G1370E 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 40 0 0.00 34 24 41.38 105 0 0.00 57 33 36.67 GPRIN3 0 genome.wustl.edu 37 4 90169946 90169946 + Missense_Mutation SNP C C G TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 4 90169946 90169946 C G SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.1316 p.R439T 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 tier1 - - 22 0 0.00 27 12 30.77 89 0 0.00 43 21 32.81 IRGC 0 genome.wustl.edu 37 19 44223484 44223484 + Missense_Mutation SNP G G C TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 19 44223484 44223484 G C SNP IRGC ENST00000244314 human ensembl 74_37 +1 known missense c.774 p.K258N 1.000 pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 tier1 - - 22 0 0.00 13 41 75.93 37 0 0.00 11 11 50.00 GLYATL1 0 genome.wustl.edu 37 11 58722681 58722681 + Missense_Mutation SNP G G T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 11 58722681 58722681 G T SNP GLYATL1 ENST00000300079 human ensembl 74_37 +1 known missense c.439 p.V147L 0.000 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 tier1 - - 63 0 0.00 56 16 22.22 35 0 0.00 23 13 36.11 CD48 0 genome.wustl.edu 37 1 160651093 160651093 + Missense_Mutation SNP G G A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 1 160651093 160651093 G A SNP CD48 ENST00000368046 human ensembl 74_37 -1 known missense c.551 p.T184I 0.000 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD48 HGNC ENSG00000117091 tier1 - - 69 0 0.00 133 25 15.82 111 0 0.00 147 31 17.42 VPS13C 0 genome.wustl.edu 37 15 62261524 62261524 + Missense_Mutation SNP A A C TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 15 62261524 62261524 A C SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.2885 p.I962S 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 39 0 0.00 37 41 52.56 76 0 0.00 41 59 59.00 MCCC1-AS1 0 genome.wustl.edu 37 3 182735048 182735048 + R SNP C C G TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 3 182735048 182735048 C G SNP MCCC1-AS1 ENST00000471731 human ensembl 74_37 +1 known rna NULL NULL 0.104 - - - no_errors MCCC1-AS1 HGNC ENSG00000243368 tier1 - - 43 0 0.00 43 18 29.51 102 0 0.00 84 65 43.62 DERL1 0 genome.wustl.edu 37 8 124031520 124031520 + Missense_Mutation SNP G G C TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 8 124031520 124031520 G C SNP DERL1 ENST00000259512 human ensembl 74_37 -1 known missense c.532 p.L178V 1.000 pfam_DER1 pfam_DER1 - no_errors DERL1 HGNC ENSG00000136986 tier1 - - 27 0 0.00 30 7 18.92 85 0 0.00 65 22 25.29 ZNF215 0 genome.wustl.edu 37 11 6977273 6977273 + Nonsense_Mutation SNP T T A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 11 6977273 6977273 T A SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known nonsense c.1065 p.Y355* 0.013 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 tier1 - - 13 0 0.00 13 9 40.91 100 0 0.00 39 21 35.00 FAT4 0 genome.wustl.edu 37 4 126328179 126328179 + Missense_Mutation SNP G G T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 4 126328179 126328179 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5452 p.D1818Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 46 0 0.00 43 14 24.56 67 0 0.00 39 17 30.36 KCNH8 0 genome.wustl.edu 37 3 19556882 19556882 + Missense_Mutation SNP G G A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 3 19556882 19556882 G A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2504 p.R835Q 0.970 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tR-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 48 0 0.00 26 15 36.59 94 0 0.00 38 20 34.48 UNC13C 0 genome.wustl.edu 37 15 54542514 54542514 + Missense_Mutation SNP C C T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 15 54542514 54542514 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.3320 p.T1107I 0.911 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 58 0 0.00 71 28 28.28 73 0 0.00 44 28 38.89 DCBLD2 0 genome.wustl.edu 37 3 98536625 98536625 + Silent SNP C C T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 3 98536625 98536625 C T SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known silent c.1200 p.V400 0.999 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 tier1 - - 63 0 0.00 76 22 22.45 52 1 1.89 39 5 11.36 FSTL5 0 genome.wustl.edu 37 4 162463768 162463768 + Missense_Mutation SNP C C G TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 4 162463768 162463768 C G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1093 p.E365Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 32 0 0.00 31 19 38.00 80 0 0.00 33 16 32.65 RET 0 genome.wustl.edu 37 10 43615578 43615578 + Missense_Mutation SNP G G A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 10 43615578 43615578 G A SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.2657 p.R886Q 0.997 pirsf_Tyr_kinase_Ret_rcpt,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 pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 59 0 0.00 29 18 38.30 95 0 0.00 33 11 25.00 COLEC12 0 genome.wustl.edu 37 18 357461 357461 + Missense_Mutation SNP G G C TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 18 357461 357461 G C SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.120 p.I40M 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 tier1 - - 29 0 0.00 65 21 24.42 85 0 0.00 132 15 10.14 ERVMER34-1 0 genome.wustl.edu 37 4 53611579 53611579 + Missense_Mutation SNP T T C TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 4 53611579 53611579 T C SNP ERVMER34-1 ENST00000440542 human ensembl 74_37 -1 known missense c.109 p.I37V 0.008 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVMER34-1 HGNC ENSG00000226887 tier1 - - 37 0 0.00 57 9 13.64 79 0 0.00 69 27 28.12 MMP1 0 genome.wustl.edu 37 11 102666020 102666020 + Missense_Mutation SNP G G T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 11 102666020 102666020 G T SNP MMP1 ENST00000315274 human ensembl 74_37 -1 known missense c.784 p.R262S 0.285 smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP1 HGNC ENSG00000196611 tier1 rs12282811 GMAF=0.0005 9 0 0.00 7 15 68.18 127 0 0.00 44 33 42.86 ADAMTS17 0 genome.wustl.edu 37 15 100516423 100516423 + Missense_Mutation SNP G G A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 15 100516423 100516423 G A SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.2954 p.S985L 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 tier1 - - 23 0 0.00 55 50 47.62 26 0 0.00 29 14 32.56 MCCC1 0 genome.wustl.edu 37 3 182789076 182789076 + Silent SNP T T A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 3 182789076 182789076 T A SNP MCCC1 ENST00000265594 human ensembl 74_37 -1 known silent c.561 p.S187 0.238 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 tier1 - - 46 0 0.00 45 16 26.23 122 0 0.00 91 19 17.27 DYNC2LI1 0 genome.wustl.edu 37 2 44028001 44028001 + Silent SNP C C T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 2 44028001 44028001 C T SNP DYNC2LI1 ENST00000605786 human ensembl 74_37 +1 known silent c.679 p.L227 0.987 NULL pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC2LI1 HGNC ENSG00000138036 tier1 - - 51 0 0.00 26 52 66.67 117 0 0.00 21 54 71.05 COL17A1 0 genome.wustl.edu 37 10 105798854 105798854 + Silent SNP A A T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 10 105798854 105798854 A T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.2922 p.L974 0.973 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 32 0 0.00 40 6 13.04 133 0 0.00 90 19 17.27 RPGRIP1 0 genome.wustl.edu 37 14 21789428 21789428 + Missense_Mutation SNP C C T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 14 21789428 21789428 C T SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.1478 p.P493L 0.030 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 tier1 - - 57 0 0.00 112 21 15.79 117 1 0.85 103 29 21.64 ANKRD62 0 genome.wustl.edu 37 18 12125943 12125943 + Missense_Mutation SNP A A T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 18 12125943 12125943 A T SNP ANKRD62 ENST00000314074 human ensembl 74_37 +1 known missense c.2081 p.K694I 0.133 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 tier1 - - 71 0 0.00 89 15 14.42 48 0 0.00 28 14 33.33 TMCO6 0 genome.wustl.edu 37 5 140024571 140024571 + Missense_Mutation SNP C C G TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 5 140024571 140024571 C G SNP TMCO6 ENST00000252100 human ensembl 74_37 +1 known missense c.1388 p.A463G 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 tier1 - - 22 0 0.00 19 9 32.14 49 0 0.00 42 16 27.59 PEX7 0 genome.wustl.edu 37 6 137147605 137147605 + Missense_Mutation SNP G G C TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 6 137147605 137147605 G C SNP PEX7 ENST00000318471 human ensembl 74_37 +1 known missense c.337 p.E113Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PEX7 HGNC ENSG00000112357 tier1 - - 48 0 0.00 42 18 30.00 79 0 0.00 38 30 44.12 SCGB1D4 0 genome.wustl.edu 37 11 62066450 62066450 + Silent SNP C C G TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 11 62066450 62066450 C G SNP SCGB1D4 ENST00000358585 human ensembl 74_37 -1 known silent c.33 p.S11 0.540 pfam_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1D4 HGNC ENSG00000197745 tier1 - - 68 0 0.00 48 26 35.14 39 0 0.00 11 5 31.25 KCNQ1OT1 0 genome.wustl.edu 37 11 2683460 2683460 + R SNP G G A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 11 2683460 2683460 G A SNP KCNQ1OT1 ENST00000597346 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 tier1 - - 9 0 0.00 8 8 50.00 51 0 0.00 20 8 28.57 COL18A1 0 genome.wustl.edu 37 21 46888236 46888236 + Missense_Mutation SNP G G A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 21 46888236 46888236 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.1432 p.D478N 0.975 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 49 0 0.00 54 13 19.40 31 0 0.00 20 11 35.48 F13A1 0 genome.wustl.edu 37 6 6174956 6174956 + Missense_Mutation SNP T T A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 6 6174956 6174956 T A SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1604 p.K535M 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 tier1 - - 118 0 0.00 92 38 29.23 156 0 0.00 68 32 32.00 ZNF106 0 genome.wustl.edu 37 15 42727686 42727686 + Missense_Mutation SNP G G T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 15 42727686 42727686 G T SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.4708 p.H1570N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 tier1 - - 33 0 0.00 31 32 50.79 116 0 0.00 73 75 50.68 USP24 0 genome.wustl.edu 37 1 55537558 55537559 + Frame_Shift_Ins INS - - T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 1 55537558 55537559 - T INS USP24 ENST00000407756 human ensembl 74_37 -1 known frame_shift_ins c.7249_7248 p.E2416fs 1.000:0.920 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 48 0 0.00 58 21 26.58 57 0 0.00 74 13 14.94 GAB 0 genome.wustl.edu 37 11 62414079 62414080 + R DEL AG AG - TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 11 62414079 62414080 AG - DEL GAB ENST00000534419 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors GAB HGNC ENSG00000089597 tier1 58 0 0.00 56 15 21.13 33 0 0.00 11 4 26.67 CCDC157 0 genome.wustl.edu 37 22 30768185 30768185 + Silent SNP G G A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 22 30768185 30768185 G A SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known silent c.1245 p.R415 1.000 NULL superfamily_Prefoldin,superfamily_t-SRE - no_errors CCDC157 HGNC ENSG00000187860 tier1 - - 71 0 0.00 35 32 47.76 12 0 0.00 2 2 50.00 OR7E24 0 genome.wustl.edu 37 19 9362102 9362102 + Missense_Mutation SNP T T A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 19 9362102 9362102 T A SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known missense c.383 p.M128K 0.000 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 tier1 - - 106 1 0.93 98 61 38.36 10 0 0.00 3 4 57.14 SLC8A2 0 genome.wustl.edu 37 19 47941209 47941209 + Missense_Mutation SNP G G C TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 19 47941209 47941209 G C SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.1907 p.T636R 0.924 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 tier1 - - 22 0 0.00 3 12 80.00 84 0 0.00 8 18 69.23 CCNYL2 0 genome.wustl.edu 37 10 42924593 42924594 + R INS - - C TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 10 42924593 42924594 - C INS CCNYL2 ENST00000483242 human ensembl 74_37 -1 known rna NULL NULL 0.996:0.999 - - - no_errors CCNYL2 HGNC ENSG00000182632 tier1 101 1 0.98 16 3 15.79 14 0 0.00 0 0 0.00 CGB8 0 genome.wustl.edu 37 19 49551016 49551016 + Missense_Mutation SNP C C T TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 19 49551016 49551016 C T SNP CGB8 ENST00000448456 human ensembl 74_37 -1 known missense c.394 p.D132N 0.915 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB8 HGNC ENSG00000213030 tier1 - - 17 0 0.00 6 16 72.73 0 0 0.00 0 0 0.00 PBX2P1 0 genome.wustl.edu 37 3 142897185 142897202 + R DEL TGTTTTTGTTGTTGTTGT TGTTTTTGTTGTTGTTGT - TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 TGTTTTTGTTGTTGTTGT TGTTTTTGTTGTTGTTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 3 142897185 142897202 TGTTTTTGTTGTTGTTGT - DEL PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.639:0.474:0.235:0.119:0.110:0.097:0.077:0.050:0.050:0.048:0.043:0.034:0.032:0.028:0.024:0.019:0.015:0.009 - - - no_errors PBX2P1 HGNC ENSG00000244171 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 C19orf57 0 genome.wustl.edu 37 19 14000051 14000051 + Nonsense_Mutation SNP G G A TCGA-DX-A3U7-01A-11D-A29N-09 TCGA-DX-A3U7-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e7b51fb-2249-451a-bf23-bb2a3d935928 d4b86f75-b56f-404f-b88d-20adf47e17dd 19 14000051 14000051 G A SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known nonsense c.1618 p.Q540* 0.896 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 tier1 - - 48 0 0.00 68 14 17.07 38 0 0.00 25 2 7.41