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 NLRP9 0 genome.wustl.edu 37 19 56243494 56243494 + Missense_Mutation SNP A A T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 19 56243494 56243494 A T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.1703 p.V568D 0.001 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 - - 38 0 0.00 66 16 19.51 CBFA2T2 0 genome.wustl.edu 37 20 32217653 32217653 + Silent SNP G G C TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 20 32217653 32217653 G C SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known silent c.1188 p.L396 0.991 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 tier1 - - 24 0 0.00 49 19 27.94 DOC2A 0 genome.wustl.edu 37 16 30017947 30017947 + Missense_Mutation SNP C C G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 16 30017947 30017947 C G SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.930 p.K310N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 tier1 - - 27 0 0.00 64 7 9.86 GPRC6A 0 genome.wustl.edu 37 6 117113915 117113915 + Missense_Mutation SNP A A G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 6 117113915 117113915 A G SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.2171 p.I724T 0.001 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 tier1 - - 30 0 0.00 23 6 20.69 ZNF99 0 genome.wustl.edu 37 19 22942486 22942486 + Splice_Site SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 19 22942486 22942486 T A SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known splice_site c.290-2 e4-2 0.163 - - - no_errors ZNF99 HGNC ENSG00000213973 tier1 - - 17 0 0.00 38 14 26.92 OR5AS1 0 genome.wustl.edu 37 11 55798716 55798716 + Silent SNP G G T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 11 55798716 55798716 G T SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known silent c.822 p.V274 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 tier1 - - 34 0 0.00 70 8 10.26 COL6A5 0 genome.wustl.edu 37 3 130113771 130113771 + Missense_Mutation SNP G G T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 3 130113771 130113771 G T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.3031 p.D1011Y 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 29 0 0.00 39 5 11.36 CBFA2T2 0 genome.wustl.edu 37 20 32216176 32216176 + Missense_Mutation SNP G G A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 20 32216176 32216176 G A SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known missense c.994 p.D332N 1.000 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 tier1 - - 33 0 0.00 63 24 27.59 SPINK5 0 genome.wustl.edu 37 5 147506574 147506574 + Missense_Mutation SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 5 147506574 147506574 C T SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.2986 p.L996F 0.000 smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 tier1 - - 18 0 0.00 26 24 48.00 FAM157B 0 genome.wustl.edu 37 9 141107563 141107563 + R SNP A A T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 9 141107563 141107563 A T SNP FAM157B ENST00000446912 human ensembl 74_37 +1 known rna NULL NULL 0.171 - - - no_errors FAM157B HGNC ENSG00000233013 tier1 - - 42 0 0.00 24 9 27.27 HSPG2 0 genome.wustl.edu 37 1 22156635 22156635 + R SNP G G A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 22156635 22156635 G A SNP HSPG2 ENST00000486901 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 49 0 0.00 52 22 29.33 FERD3L 0 genome.wustl.edu 37 7 19184906 19184906 + Missense_Mutation SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 7 19184906 19184906 C T SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.80 p.R27H 0.027 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 tier1 - - 37 0 0.00 89 8 8.25 GRAMD1A 0 genome.wustl.edu 37 19 35491326 35491327 + R INS - - GCCCT TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 19 35491326 35491327 - GCCCT INS GRAMD1A ENST00000603669 human ensembl 74_37 +1 known rna NULL NULL 0.780:0.776 - - - no_errors GRAMD1A HGNC ENSG00000089351 tier1 YTHDF2 0 genome.wustl.edu 37 1 29063572 29063574 + R DEL GCC GCC - TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 29063572 29063574 GCC - DEL YTHDF2 ENST00000478283 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.999:0.990 - - - no_errors YTHDF2 HGNC ENSG00000198492 tier1 10 0 0.00 13 2 13.33 COX11 0 genome.wustl.edu 37 17 53045891 53045891 + Missense_Mutation SNP C C A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 17 53045891 53045891 C A SNP COX11 ENST00000299335 human ensembl 74_37 -1 known missense c.117 p.E39D 0.000 NULL pfam_Cyt_c_oxidase_assmbl_CtaG,superfamily_CtaG/Cox11_dom - no_errors COX11 HGNC ENSG00000166260 tier1 - - 60 0 0.00 95 24 20.17 CD3G 0 genome.wustl.edu 37 11 118221340 118221340 + Missense_Mutation SNP C C A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 11 118221340 118221340 C A SNP CD3G ENST00000532917 human ensembl 74_37 +1 known missense c.381 p.F127L 0.980 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3G HGNC ENSG00000160654 tier1 - - 42 0 0.00 43 4 8.51 PEG3 0 genome.wustl.edu 37 19 57327276 57327276 + Missense_Mutation SNP C C A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 19 57327276 57327276 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2534 p.R845I 0.014 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 15 0 0.00 48 10 17.24 MYBPH 0 genome.wustl.edu 37 1 203141135 203141135 + Missense_Mutation SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 203141135 203141135 C T SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known missense c.542 p.R181H 1.000 superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 tier1 - - 30 0 0.00 21 27 56.25 GOLGA6L4 0 genome.wustl.edu 37 15 82932257 82932288 + R DEL ACACAAATAAATTTAAACTATAAATTAGAAAC ACACAAATAAATTTAAACTATAAATTAGAAAC - TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 ACACAAATAAATTTAAACTATAAATTAGAAAC ACACAAATAAATTTAAACTATAAATTAGAAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 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 ENSG00000215953 0 genome.wustl.edu 37 5 84823864 84823864 + R SNP A A G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 5 84823864 84823864 A G SNP ENSG00000215953 ENST00000401134 human ensembl 74_37 -1 novel rna NULL NULL 0.005 - - - no_errors AC026700.1 Clone_based_ensembl_gene ENSG00000215953 tier1 rs199705000 - 22 0 0.00 18 6 25.00 PHACTR1 0 genome.wustl.edu 37 6 12934035 12934035 + Missense_Mutation SNP C C A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 6 12934035 12934035 C A SNP PHACTR1 ENST00000379348 human ensembl 74_37 +1 known missense c.421 p.Q141K 0.013 NULL NULL - no_errors PHACTR1 HGNC ENSG00000112137 tier1 - - 53 0 0.00 79 10 11.24 CDYL 0 genome.wustl.edu 37 6 4935802 4935802 + Missense_Mutation SNP A A G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 6 4935802 4935802 A G SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.907 p.T303A 1.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 tier1 - - 41 0 0.00 45 20 30.77 COL27A1 0 genome.wustl.edu 37 9 117031280 117031281 + R INS - - TGGTGT TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 9 117031280 117031281 - TGGTGT INS COL27A1 ENST00000477421 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.009 - - - no_errors COL27A1 HGNC ENSG00000196739 tier1 CXorf23 0 genome.wustl.edu 37 X 19955616 19955616 + Missense_Mutation SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 X 19955616 19955616 T A SNP CXorf23 ENST00000379682 human ensembl 74_37 -1 novel missense c.1780 p.N594Y 0.007 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 tier1 - - 100 0 0.00 183 47 20.43 AHK2 0 genome.wustl.edu 37 14 105410494 105410494 + Missense_Mutation SNP G G C TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 14 105410494 105410494 G C SNP AHK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11294 p.S3765C 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK2 HGNC ENSG00000185567 tier1 - - 78 0 0.00 44 74 62.71 SPEG 0 genome.wustl.edu 37 2 220330668 220330669 + R INS - - GT TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 2 220330668 220330669 - GT INS SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors SPEG HGNC ENSG00000072195 tier1 25 0 0.00 22 4 15.38 SHISA2 0 genome.wustl.edu 37 13 26620919 26620919 + Missense_Mutation SNP C C G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 13 26620919 26620919 C G SNP SHISA2 ENST00000319420 human ensembl 74_37 -1 known missense c.620 p.C207S 1.000 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 tier1 - - 31 0 0.00 56 53 48.18 ACSM5 0 genome.wustl.edu 37 16 20442562 20442562 + Silent SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 16 20442562 20442562 C T SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known silent c.1227 p.N409 0.043 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 rs78006992 - 29 0 0.00 80 8 9.09 MIR137HG 0 genome.wustl.edu 37 1 98511733 98511733 + R SNP G G A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 98511733 98511733 G A SNP MIR137HG ENST00000424528 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR137HG HGNC ENSG00000225206 tier1 rs75853046 - 33 0 0.00 106 21 16.15 SPTA1 0 genome.wustl.edu 37 1 158636128 158636128 + Missense_Mutation SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 158636128 158636128 T A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2198 p.E733V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 54 0 0.00 104 37 26.24 C1orf173 0 genome.wustl.edu 37 1 75072348 75072348 + Missense_Mutation SNP T T C TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 75072348 75072348 T C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.1426 p.T476A 0.131 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 28 0 0.00 48 18 27.27 PRAMEF22 0 genome.wustl.edu 37 1 13038327 13038327 + Silent SNP G G T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 13038327 13038327 G T SNP PRAMEF22 ENST00000376187 human ensembl 74_37 +1 known silent c.1392 p.T464 0.000 NULL NULL - no_errors PRAMEF22 HGNC ENSG00000204508 tier1 rs199598633 - 8 0 0.00 7 5 41.67 CCDC138 0 genome.wustl.edu 37 2 109408168 109408168 + Missense_Mutation SNP A A G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 2 109408168 109408168 A G SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known missense c.304 p.K102E 0.627 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 tier1 - - 68 0 0.00 25 28 52.83 TRIOBP 0 genome.wustl.edu 37 22 38121164 38121164 + Silent SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 22 38121164 38121164 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known silent c.2601 p.S867 0.003 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 22 0 0.00 32 29 47.54 MED23 0 genome.wustl.edu 37 6 131941854 131941857 + Frame_Shift_Del DEL AGAT AGAT - TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 AGAT AGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 6 131941854 131941857 AGAT - DEL MED23 ENST00000368058 human ensembl 74_37 -1 known frame_shift_del c.511_508 p.I170fs 0.970:0.963:1.000:1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 tier1 24 0 0.00 47 22 31.88 DCHS2 0 genome.wustl.edu 37 4 155254432 155254432 + Silent SNP G G A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 4 155254432 155254432 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.1431 p.H477 0.560 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 21 0 0.00 23 6 20.69 GIMAP1 0 genome.wustl.edu 37 7 150417384 150417384 + Missense_Mutation SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 7 150417384 150417384 T A SNP GIMAP1 ENST00000307194 human ensembl 74_37 +1 known missense c.292 p.C98S 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP1 HGNC ENSG00000213203 tier1 - - 30 0 0.00 40 31 43.66 LRRCC1 0 genome.wustl.edu 37 8 86041607 86041607 + Missense_Mutation SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 8 86041607 86041607 C T SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.1619 p.A540V 0.033 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 tier1 - - 31 0 0.00 36 21 36.84 CXorf30 0 genome.wustl.edu 37 X 36319258 36319258 + Missense_Mutation SNP C C A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 X 36319258 36319258 C A SNP CXorf30 ENST00000378657 human ensembl 74_37 +1 known missense c.272 p.P91Q 0.259 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 tier1 - - 80 0 0.00 98 62 38.75 GGA2 0 genome.wustl.edu 37 16 23478708 23478709 + R INS - - AC TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 16 23478708 23478709 - AC INS GGA2 ENST00000566685 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors GGA2 HGNC ENSG00000103365 tier1 11 0 0.00 12 2 14.29 HLA-DOA 0 genome.wustl.edu 37 6 32976071 32976072 + R INS - - A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 6 32976071 32976072 - A INS HLA-DOA ENST00000467465 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004 - - - no_errors HLA-DOA HGNC ENSG00000204252 tier1 8 0 0.00 8 3 27.27 LOC101927648 0 genome.wustl.edu 37 1 143355405 143355405 + R SNP T T C TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 143355405 143355405 T C SNP LOC101927648 ENST00000423249 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-435B5.4 Clone_based_vega_gene ENSG00000185044 tier1 - - 10 0 0.00 4 4 50.00 UNC80 0 genome.wustl.edu 37 2 210791620 210791620 + Missense_Mutation SNP C C G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 2 210791620 210791620 C G SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.5518 p.Q1840E 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 21 0 0.00 17 16 48.48 PCDHGB1 0 genome.wustl.edu 37 5 140730100 140730100 + Missense_Mutation SNP G G T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 5 140730100 140730100 G T SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.273 p.K91N 0.994 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 tier1 - - 29 0 0.00 16 23 58.97 LOC645752 0 genome.wustl.edu 37 15 78211432 78211432 + R SNP T T G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 15 78211432 78211432 T G SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.401 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 tier1 - - 51 0 0.00 47 5 9.62 ALOX5 0 genome.wustl.edu 37 10 45939376 45939376 + R SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 10 45939376 45939376 C T SNP ALOX5 ENST00000498461 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ALOX5 HGNC ENSG00000012779 tier1 - - 15 0 0.00 10 19 65.52 SIGLEC6 0 genome.wustl.edu 37 19 52031485 52031485 + Silent SNP A A G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 19 52031485 52031485 A G SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known silent c.1035 p.G345 0.000 NULL pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 tier1 - - 30 0 0.00 21 12 35.29 MUC19 0 genome.wustl.edu 37 12 40938791 40938791 + R SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 12 40938791 40938791 T A SNP MUC19 ENST00000492952 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 30 0 0.00 28 8 21.62 NRXN1 0 genome.wustl.edu 37 2 50147836 50147847 + R DEL GTGTGTGTGTGT GTGTGTGTGTGT - TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 GTGTGTGTGTGT GTGTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 2 50147836 50147847 GTGTGTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096:0.025:0.055 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 MVB12B 0 genome.wustl.edu 37 9 129269245 129269245 + R SNP G G A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 9 129269245 129269245 G A SNP MVB12B ENST00000485886 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MVB12B HGNC ENSG00000196814 tier1 - - 28 0 0.00 49 31 38.27 COL18A1 0 genome.wustl.edu 37 21 46888376 46888376 + Silent SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 21 46888376 46888376 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.1572 p.F524 0.908 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 - - 40 0 0.00 46 8 14.81 OR5AK2 0 genome.wustl.edu 37 11 56756816 56756816 + Missense_Mutation SNP G G A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 11 56756816 56756816 G A SNP OR5AK2 ENST00000326855 human ensembl 74_37 +1 known missense c.428 p.R143H 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AK2 HGNC ENSG00000181273 tier1 rs200727671 - 24 0 0.00 21 14 40.00 ANKRD44 0 genome.wustl.edu 37 2 197870436 197870436 + Missense_Mutation SNP G G A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 2 197870436 197870436 G A SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.2254 p.H752Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 tier1 - - 16 0 0.00 11 5 31.25 TNRC18 0 genome.wustl.edu 37 7 5429990 5429992 + In_Frame_Del DEL AAA AAA - TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 7 5429990 5429992 AAA - DEL TNRC18 ENST00000399434 human ensembl 74_37 -1 putative in_frame_del c.391_389 p.F130in_frame_del 0.706:0.708:0.711 NULL NULL - no_errors TNRC18 HGNC ENSG00000182095 tier1 23 0 0.00 25 6 19.35 SENP3 0 genome.wustl.edu 37 17 7475224 7475224 + R SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 17 7475224 7475224 T A SNP SENP3 ENST00000578868 human ensembl 74_37 +1 known rna NULL NULL 0.904 - - - no_errors SENP3 HGNC ENSG00000161956 tier1 rs71361407 - 9 0 0.00 5 9 64.29 ENSG00000215933 0 genome.wustl.edu 37 X 71372217 71372217 + R SNP A A G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 X 71372217 71372217 A G SNP ENSG00000215933 ENST00000401114 human ensembl 74_37 -1 novel rna NULL NULL 0.006 - - - no_errors BX119917.1 Clone_based_ensembl_gene ENSG00000215933 tier1 - - 50 0 0.00 50 10 16.67 CHD2 0 genome.wustl.edu 37 15 93518154 93518154 + Missense_Mutation SNP G G T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 15 93518154 93518154 G T SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.2551 p.D851Y 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 43 0 0.00 42 4 8.70 FBXW7 0 genome.wustl.edu 37 4 153271229 153271229 + Silent SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 4 153271229 153271229 C T SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known silent c.549 p.L183 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 - - 48 0 0.00 65 23 26.14 TEKT5 0 genome.wustl.edu 37 16 10729636 10729636 + Missense_Mutation SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 16 10729636 10729636 T A SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known missense c.1226 p.D409V 1.000 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 tier1 - - 17 0 0.00 34 12 26.09 CCL11 0 genome.wustl.edu 37 17 32612893 32612893 + Silent SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 17 32612893 32612893 C T SNP CCL11 ENST00000305869 human ensembl 74_37 +1 known silent c.66 p.L22 0.007 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL11 HGNC ENSG00000172156 tier1 rs202189623 - 15 0 0.00 19 12 38.71 SKIDA1 0 genome.wustl.edu 37 10 21805483 21805483 + Silent SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 10 21805483 21805483 C T SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known silent c.1269 p.E423 0.410 NULL pfam_Transform_Ski,superfamily_D-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 tier1 - - 33 0 0.00 34 4 10.53 DIS3L 0 genome.wustl.edu 37 15 66625180 66625180 + Missense_Mutation SNP C C A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 15 66625180 66625180 C A SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known missense c.2788 p.Q930K 0.269 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 tier1 - - 33 0 0.00 42 4 8.70 ITGB7 0 genome.wustl.edu 37 12 53589964 53589964 + Missense_Mutation SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 12 53589964 53589964 T A SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known missense c.836 p.N279I 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 tier1 - - 27 0 0.00 59 9 13.24 MEGF8 0 genome.wustl.edu 37 19 42848647 42848647 + Missense_Mutation SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 19 42848647 42848647 T A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.1843 p.C615S 1.000 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 - - 14 0 0.00 10 9 47.37 ENSG00000267865 0 genome.wustl.edu 37 19 56220430 56220431 + R INS - - T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 19 56220430 56220431 - T INS ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 tier1 10 0 0.00 15 6 28.57 C21orf49 0 genome.wustl.edu 37 21 34157085 34157086 + Splice_Site INS - - T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 21 34157085 34157086 - T INS C21orf49 ENST00000454365 human ensembl 74_37 +1 known splice_site_ins c.1-1_0 e1-1 0.122:0.122 - - - no_errors C21orf49 HGNC ENSG00000205930 tier1 16 0 0.00 20 4 16.67 LOC101930657 0 genome.wustl.edu 37 1 745347 745347 + R SNP T T C TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 745347 745347 T C SNP LOC101930657 ENST00000412115 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-206L10.9 Clone_based_vega_gene ENSG00000237491 tier1 - - 15 0 0.00 26 7 21.21 PTPLA 0 genome.wustl.edu 37 10 17646048 17646049 + Splice_Site INS - - A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 10 17646048 17646049 - A INS PTPLA ENST00000361271 human ensembl 74_37 -1 known splice_site_ins c.258-3_258-2 e2-2 1.000:0.005 - - - no_errors PTPLA HGNC ENSG00000165996 tier1 22 0 0.00 22 4 15.38 CNTP2 0 genome.wustl.edu 37 7 148117974 148117974 + R SNP A A T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 7 148117974 148117974 A T SNP CNTP2 ENST00000463592 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CNTP2 HGNC ENSG00000174469 tier1 - - 53 0 0.00 65 29 30.85 TRPM1 0 genome.wustl.edu 37 15 31327838 31327838 + Missense_Mutation SNP T T G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 15 31327838 31327838 T G SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.2662 p.I888L 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 38 0 0.00 28 5 15.15 MDGA2 0 genome.wustl.edu 37 14 47426764 47426764 + Missense_Mutation SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 14 47426764 47426764 T A SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.1902 p.R634S 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 30 0 0.00 17 27 61.36 PCLO 0 genome.wustl.edu 37 7 82544871 82544871 + Missense_Mutation SNP C C A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 7 82544871 82544871 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12431 p.G4144V 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 32 0 0.00 48 19 28.36 GRHL2 0 genome.wustl.edu 37 8 102661670 102661670 + Silent SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 8 102661670 102661670 C T SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known silent c.1641 p.D547 0.994 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 tier1 - - 30 0 0.00 57 11 16.18 HTT 0 genome.wustl.edu 37 4 3214355 3214355 + Silent SNP G G T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 4 3214355 3214355 G T SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.6693 p.V2231 0.000 pfam_Huntingtin_middle-repeat pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 50 0 0.00 95 14 12.84 UBQLN2 0 genome.wustl.edu 37 X 56592114 56592114 + Missense_Mutation SNP C C G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 X 56592114 56592114 C G SNP UBQLN2 ENST00000338222 human ensembl 74_37 +1 known missense c.1808 p.A603G 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 tier1 - - 30 0 0.00 35 6 14.63 ACER1 0 genome.wustl.edu 37 19 6307291 6307291 + Nonsense_Mutation SNP T T A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 19 6307291 6307291 T A SNP ACER1 ENST00000301452 human ensembl 74_37 -1 known nonsense c.499 p.K167* 0.000 pfam_Ceramidase pfam_Ceramidase - no_errors ACER1 HGNC ENSG00000167769 tier1 - - 32 0 0.00 51 12 18.75 OBSCN 0 genome.wustl.edu 37 1 228520959 228520959 + Missense_Mutation SNP A A G TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 228520959 228520959 A G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15791 p.E5264G 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 43 0 0.00 47 12 20.34 RB1 0 genome.wustl.edu 37 13 49039503 49039511 + Frame_Shift_Del DEL AGGTGTGTG AGGTGTGTG - TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 AGGTGTGTG AGGTGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 13 49039503 49039511 AGGTGTGTG - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.2488_2489 p.R830fs 1.000:1.000 pfam_RB_C pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 ENSG00000259521 0 genome.wustl.edu 37 15 41319993 41319994 + R INS - - A TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 15 41319993 41319994 - A INS ENSG00000259521 ENST00000560178 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-540O11.4 Clone_based_vega_gene ENSG00000259521 tier1 23 0 0.00 18 3 14.29 MYOCD 0 genome.wustl.edu 37 17 12661459 12661459 + Missense_Mutation SNP A A C TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 17 12661459 12661459 A C SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.2260 p.T754P 0.912 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 41 0 0.00 118 11 8.53 BLOC1S3 0 genome.wustl.edu 37 19 45684547 45684547 + R SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 19 45684547 45684547 C T SNP BLOC1S3 ENST00000588362 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors BLOC1S3 HGNC ENSG00000189114 tier1 - - 27 0 0.00 32 9 21.95 DTL 0 genome.wustl.edu 37 1 212274107 212274107 + Missense_Mutation SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 212274107 212274107 C T SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.1775 p.A592V 0.038 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 tier1 - - 30 0 0.00 17 15 46.88 NCAM2 0 genome.wustl.edu 37 21 22910184 22910184 + Missense_Mutation SNP A A T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 21 22910184 22910184 A T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2420 p.E807V 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 36 0 0.00 23 11 32.35 NELL1 0 genome.wustl.edu 37 11 21305901 21305901 + R SNP A A T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 11 21305901 21305901 A T SNP NELL1 ENST00000529218 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 37 0 0.00 54 20 27.03 GJA9 0 genome.wustl.edu 37 1 39340985 39340985 + Silent SNP T T C TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 1 39340985 39340985 T C SNP GJA9 ENST00000357771 human ensembl 74_37 -1 known silent c.786 p.Q262 0.991 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 tier1 - - 29 0 0.00 53 11 17.19 RBM10 0 genome.wustl.edu 37 X 47039357 47039357 + Missense_Mutation SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 X 47039357 47039357 C T SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.980 p.S327F 0.997 smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 tier1 - - 55 0 0.00 82 9 9.89 GOLGA2P5 0 genome.wustl.edu 37 12 100562921 100562921 + R DEL T T - TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 12 100562921 100562921 T - DEL GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 tier1 14 0 0.00 13 3 18.75 ZNF733P 0 genome.wustl.edu 37 7 62752482 62752482 + R SNP T T C TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 7 62752482 62752482 T C SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.086 - - - no_errors ZNF733P HGNC ENSG00000185037 tier1 - - 48 0 0.00 87 14 13.86 TNRC6A 0 genome.wustl.edu 37 16 24802323 24802330 + Frame_Shift_Del DEL AACCTGCT AACCTGCT - TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 AACCTGCT AACCTGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d3757dd0-b728-4ef8-b4db-cda45a664070 843ebeaf-a333-4f5b-9c34-1629672f36e5 16 24802323 24802330 AACCTGCT - DEL TNRC6A ENST00000395799 human ensembl 74_37 +1 known frame_shift_del c.2360_2367 p.K787fs 1.000:0.992:1.000:0.999:0.793:0.172:0.946:0.631 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 tier1