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 PACRG 0 genome.wustl.edu 37 6 163483279 163483279 + Missense_Mutation SNP G G T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 6 163483279 163483279 G T SNP PACRG ENST00000337019 human ensembl 74_37 +1 known missense c.389 p.G130V 1.000 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 tier1 - - 47 0 0.00 17 5 22.73 106 0 0.00 58 24 29.27 INTS1 0 genome.wustl.edu 37 7 1538144 1538144 + Missense_Mutation SNP C C A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 7 1538144 1538144 C A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.1713 p.K571N 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 - - 80 0 0.00 47 5 9.62 93 0 0.00 102 12 10.53 GOLGB1 0 genome.wustl.edu 37 3 121413302 121413302 + Missense_Mutation SNP T T A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 3 121413302 121413302 T A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.6053 p.Q2018L 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 14 0 0.00 4 7 63.64 90 0 0.00 83 14 14.43 NPTXR 0 genome.wustl.edu 37 22 39222586 39222586 + Silent SNP G G A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 22 39222586 39222586 G A SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known silent c.1017 p.S339 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 tier1 - - 75 0 0.00 39 11 22.00 34 0 0.00 17 3 15.00 ENSG00000237234 0 genome.wustl.edu 37 6 112476928 112476928 + R SNP G G T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 6 112476928 112476928 G T SNP ENSG00000237234 ENST00000588689 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-142L7.5 Clone_based_vega_gene ENSG00000237234 tier1 - - 59 0 0.00 25 7 21.88 117 0 0.00 118 27 18.62 ANHX 0 genome.wustl.edu 37 12 133803696 133803696 + Missense_Mutation SNP A A G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 12 133803696 133803696 A G SNP ANHX ENST00000419717 human ensembl 74_37 -1 known missense c.544 p.Y182H 0.746 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ANHX HGNC ENSG00000227059 tier1 - - 99 0 0.00 40 36 47.37 75 0 0.00 51 41 44.57 FOXRED2 0 genome.wustl.edu 37 22 36894076 36894076 + Missense_Mutation SNP C C G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 22 36894076 36894076 C G SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.1344 p.Q448H 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/D - no_errors FOXRED2 HGNC ENSG00000100350 tier1 - - 127 0 0.00 53 22 29.33 82 0 0.00 48 11 18.64 DMXL1 0 genome.wustl.edu 37 5 118533525 118533525 + Missense_Mutation SNP G G A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 5 118533525 118533525 G A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.7619 p.R2540Q 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 99 0 0.00 77 17 18.09 129 0 0.00 122 29 19.21 SOX6 0 genome.wustl.edu 37 11 16119196 16119196 + Missense_Mutation SNP C C A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 11 16119196 16119196 C A SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.937 p.A313S 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 tier1 - - 55 0 0.00 27 7 20.59 92 1 1.08 61 20 24.69 SEMA4G 0 genome.wustl.edu 37 10 102744515 102744515 + Nonsense_Mutation SNP T T A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 10 102744515 102744515 T A SNP SEMA4G ENST00000517724 human ensembl 74_37 +1 putative nonsense c.1974 p.C658* 0.005 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4G HGNC ENSG00000095539 tier1 - - 34 0 0.00 23 9 28.12 92 0 0.00 74 31 29.52 SIDT2 0 genome.wustl.edu 37 11 117064673 117064673 + Silent SNP C C T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 11 117064673 117064673 C T SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known silent c.2379 p.T793 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 tier1 - - 25 0 0.00 8 9 52.94 50 0 0.00 30 19 38.78 ZNF879 0 genome.wustl.edu 37 5 178459892 178459892 + Missense_Mutation SNP C C A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 5 178459892 178459892 C A SNP ZNF879 ENST00000444149 human ensembl 74_37 +1 known missense c.943 p.P315T 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 ZNF879 HGNC ENSG00000234284 tier1 - - 56 0 0.00 58 16 21.62 55 0 0.00 103 14 11.97 USP28 0 genome.wustl.edu 37 11 113711441 113711441 + Missense_Mutation SNP T T G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 11 113711441 113711441 T G SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.413 p.K138T 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 tier1 - - 61 0 0.00 33 16 32.65 109 0 0.00 80 43 34.96 GLU 0 genome.wustl.edu 37 17 40695606 40695606 + Missense_Mutation SNP A A G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 17 40695606 40695606 A G SNP GLU ENST00000225927 human ensembl 74_37 +1 known missense c.1582 p.S528G 0.010 pfam_GLU_tim-barrel pfam_GLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors GLU HGNC ENSG00000108784 tier1 - - 42 0 0.00 20 5 20.00 62 0 0.00 30 13 30.23 RASGEF1C 0 genome.wustl.edu 37 5 179542375 179542375 + R SNP C C A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 5 179542375 179542375 C A SNP RASGEF1C ENST00000519456 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RASGEF1C HGNC ENSG00000146090 tier1 - - 34 0 0.00 42 6 12.50 65 0 0.00 116 17 12.69 FANCM 0 genome.wustl.edu 37 14 45633722 45633722 + Missense_Mutation SNP G G C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 14 45633722 45633722 G C SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.1742 p.R581P 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 91 0 0.00 84 25 22.94 129 0 0.00 118 30 20.27 ZNF512 0 genome.wustl.edu 37 2 27822468 27822468 + Missense_Mutation SNP C C G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 2 27822468 27822468 C G SNP ZNF512 ENST00000355467 human ensembl 74_37 +1 known missense c.296 p.A99G 0.235 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ENSG00000243943 tier1 - - 97 0 0.00 39 10 20.41 124 0 0.00 70 14 16.47 DPYSL5 0 genome.wustl.edu 37 2 27167529 27167529 + Silent SNP A A G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 2 27167529 27167529 A G SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known silent c.1446 p.L482 0.995 superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 tier1 - - 95 0 0.00 37 15 28.85 58 0 0.00 44 14 24.14 ZC3H15 0 genome.wustl.edu 37 2 187370520 187370520 + Silent SNP T T C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 2 187370520 187370520 T C SNP ZC3H15 ENST00000337859 human ensembl 74_37 +1 known silent c.918 p.D306 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 tier1 - - 87 0 0.00 42 25 37.31 111 0 0.00 73 24 24.74 MOV10L1 0 genome.wustl.edu 37 22 50558966 50558966 + Missense_Mutation SNP A A G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 22 50558966 50558966 A G SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.1490 p.Q497R 0.868 NULL superfamily_P-loop_NTPase,superfamily_-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 tier1 - - 100 0 0.00 38 16 29.63 163 0 0.00 110 37 25.17 GATA1 0 genome.wustl.edu 37 X 48651599 48651599 + Silent SNP T T C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 X 48651599 48651599 T C SNP GATA1 ENST00000376670 human ensembl 74_37 +1 known silent c.765 p.G255 0.957 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 tier1 - - 86 0 0.00 37 7 15.91 69 1 1.43 47 22 31.88 TOR1A 0 genome.wustl.edu 37 9 132580862 132580862 + Missense_Mutation SNP C C T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 9 132580862 132580862 C T SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.685 p.E229K 1.000 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 tier1 - - 92 0 0.00 51 23 31.08 112 0 0.00 79 42 34.71 CYP4F11 0 genome.wustl.edu 37 19 16024597 16024597 + Missense_Mutation SNP C C T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 19 16024597 16024597 C T SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.1520 p.R507H 0.800 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 tier1 - - 79 0 0.00 27 12 30.77 39 0 0.00 33 10 23.26 FBLN2 0 genome.wustl.edu 37 3 13611824 13611824 + Missense_Mutation SNP G G C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 3 13611824 13611824 G C SNP FBLN2 ENST00000535798 human ensembl 74_37 +1 known missense c.47 p.R16T 0.004 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 - - 35 0 0.00 19 6 24.00 96 0 0.00 66 24 26.37 STT3A 0 genome.wustl.edu 37 11 125472725 125472725 + Missense_Mutation SNP A A C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 11 125472725 125472725 A C SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.299 p.Y100S 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 tier1 - - 59 0 0.00 32 8 20.00 83 0 0.00 75 26 25.74 LZTR1 0 genome.wustl.edu 37 22 21336825 21336825 + Silent SNP G G C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 22 21336825 21336825 G C SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known silent c.165 p.R55 0.999 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 141 0 0.00 76 24 24.00 51 0 0.00 25 15 37.50 CPT2 0 genome.wustl.edu 37 1 53668131 53668131 + R SNP C C A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 1 53668131 53668131 C A SNP CPT2 ENST00000468572 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CPT2 HGNC ENSG00000157184 tier1 - - 75 0 0.00 20 7 25.93 109 0 0.00 68 19 21.84 SEC24A 0 genome.wustl.edu 37 5 134050773 134050773 + Missense_Mutation SNP A A T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 5 134050773 134050773 A T SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.2787 p.Q929H 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 tier1 - - 77 0 0.00 38 29 43.28 119 0 0.00 145 47 24.35 SCN7A 0 genome.wustl.edu 37 2 167263047 167263047 + Silent SNP C C T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 2 167263047 167263047 C T SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known silent c.4092 p.K1364 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 70 0 0.00 25 17 40.48 78 0 0.00 70 19 21.11 GVINP1 0 genome.wustl.edu 37 11 6739019 6739019 + R SNP T T C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 11 6739019 6739019 T C SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 21 0 0.00 8 3 27.27 108 0 0.00 73 29 28.43 GRIK3 0 genome.wustl.edu 37 1 37267481 37267481 + Missense_Mutation SNP T T G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 1 37267481 37267481 T G SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.2731 p.S911R 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 30 0 0.00 13 4 23.53 16 0 0.00 30 11 26.83 IL37 0 genome.wustl.edu 37 2 113676368 113676368 + Silent SNP C C A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 2 113676368 113676368 C A SNP IL37 ENST00000263326 human ensembl 74_37 +1 known silent c.639 p.P213 0.000 NULL pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1RA/IL-36 - no_errors IL37 HGNC ENSG00000125571 tier1 - - 25 0 0.00 13 9 40.91 140 0 0.00 84 41 32.80 CTDSPL2 0 genome.wustl.edu 37 15 44811494 44811494 + Splice_Site SNP G G T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 15 44811494 44811494 G T SNP CTDSPL2 ENST00000260327 human ensembl 74_37 +1 known splice_site c.1239+1 e10+1 1.000 - - - no_errors CTDSPL2 HGNC ENSG00000137770 tier1 - - 114 0 0.00 46 24 34.29 67 0 0.00 34 14 29.17 CD81 0 genome.wustl.edu 37 11 2417894 2417894 + Missense_Mutation SNP G G C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 11 2417894 2417894 G C SNP CD81 ENST00000263645 human ensembl 74_37 +1 known missense c.598 p.G200R 0.081 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD81 HGNC ENSG00000110651 tier1 - - 49 0 0.00 26 11 29.73 36 0 0.00 13 7 35.00 ARHGAP10 0 genome.wustl.edu 37 4 148876500 148876500 + Missense_Mutation SNP A A T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 4 148876500 148876500 A T SNP ARHGAP10 ENST00000336498 human ensembl 74_37 +1 known missense c.1425 p.L475F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 tier1 - - 51 0 0.00 68 9 11.69 138 0 0.00 136 23 14.47 ITPR3 0 genome.wustl.edu 37 6 33646250 33646250 + Missense_Mutation SNP A A G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 6 33646250 33646250 A G SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.3701 p.K1234R 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 tier1 - - 37 0 0.00 22 16 42.11 30 0 0.00 20 15 42.86 ELAC2 0 genome.wustl.edu 37 17 12906831 12906832 + Frame_Shift_Del DEL CA CA - TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 CA CA CA - CA CA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 17 12906831 12906832 CA - DEL ELAC2 ENST00000338034 human ensembl 74_37 -1 known frame_shift_del c.1044_1043 p.V348fs 0.933:0.932 NULL pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 tier1 85 0 0.00 45 30 40.00 56 0 0.00 50 41 45.05 ENSG00000268985 0 genome.wustl.edu 37 19 17120142 17120143 + R DEL AC AC - TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 AC AC AC - AC AC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 19 17120142 17120143 AC - DEL ENSG00000268985 ENST00000595134 human ensembl 74_37 +1 known rna NULL NULL 0.991:0.989 - - - no_errors CTD-2528A14.1 Clone_based_vega_gene ENSG00000268985 tier1 76 0 0.00 38 12 24.00 102 0 0.00 74 16 17.78 MORC3 0 genome.wustl.edu 37 21 37741363 37741363 + Frame_Shift_Del DEL C C - TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 21 37741363 37741363 C - DEL MORC3 ENST00000400485 human ensembl 74_37 +1 known frame_shift_del c.1697 p.S566fs 0.728 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 tier1 42 0 0.00 35 4 10.26 57 0 0.00 55 7 11.29 COL11A2 0 genome.wustl.edu 37 6 33156189 33156189 + Missense_Mutation SNP G G C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 6 33156189 33156189 G C SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.556 p.H186D 0.941 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 55 0 0.00 20 11 35.48 67 0 0.00 61 4 6.15 BRDT 0 genome.wustl.edu 37 1 92470012 92470012 + Silent SNP C C G TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 1 92470012 92470012 C G SNP BRDT ENST00000362005 human ensembl 74_37 +1 known silent c.2430 p.G810 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 tier1 - - 65 0 0.00 39 4 9.30 75 1 1.30 47 4 7.84 ZIC4 0 genome.wustl.edu 37 3 147124340 147124340 + R SNP A A C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 3 147124340 147124340 A C SNP ZIC4 ENST00000464144 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 103 0 0.00 61 7 10.29 111 0 0.00 140 14 9.09 TACSTD2 0 genome.wustl.edu 37 1 59041881 59041898 + In_Frame_Del DEL CTCCCCCAGTTCCTTGAT CTCCCCCAGTTCCTTGAT - TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 CTCCCCCAGTTCCTTGAT CTCCCCCAGTTCCTTGAT CTCCCCCAGTTCCTTGAT - CTCCCCCAGTTCCTTGAT CTCCCCCAGTTCCTTGAT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 1 59041881 59041898 CTCCCCCAGTTCCTTGAT - DEL TACSTD2 ENST00000371225 human ensembl 74_37 -1 known in_frame_del c.948_931 p.IKELGE311in_frame_del 0.999:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.935:0.910:0.989:0.996:0.994:0.999:0.999:0.998:0.997:0.993 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors TACSTD2 HGNC ENSG00000184292 tier1 105 0 0.00 94 7 6.93 105 0 0.00 94 7 6.93 ENSG00000221319 0 genome.wustl.edu 37 20 29637246 29637247 + R DEL TA TA - TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 20 29637246 29637247 TA - DEL ENSG00000221319 ENST00000408392 human ensembl 74_37 +1 novel rna NULL NULL 0.029:0.028 - - - no_errors AL441988.1 Clone_based_ensembl_gene ENSG00000221319 tier1 128 0 0.00 71 24 25.26 17 0 0.00 3 0 0.00 CTAGE9 0 genome.wustl.edu 37 6 132031121 132031121 + Missense_Mutation SNP T T C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 6 132031121 132031121 T C SNP CTAGE9 ENST00000314099 human ensembl 74_37 -1 known missense c.1037 p.D346G 0.942 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 tier1 - - 55 0 0.00 32 7 17.95 0 0 0.00 0 1 100.00 DNM1P47 0 genome.wustl.edu 37 15 102294602 102294602 + R SNP C C T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 15 102294602 102294602 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 61 0 0.00 40 5 11.11 0 0 0.00 0 0 0.00 ENSG00000238411 0 genome.wustl.edu 37 21 9683195 9683195 + R SNP G G A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 21 9683195 9683195 G A SNP ENSG00000238411 ENST00000459169 human ensembl 74_37 +1 novel rna NULL NULL 0.002 - - - no_errors CR381670.1 Clone_based_ensembl_gene ENSG00000238411 tier1 - - 14 0 0.00 11 6 35.29 0 0 0.00 0 0 0.00 GOLGA6L4 0 genome.wustl.edu 37 15 82932257 82932288 + R DEL ACACAAATAAATTTAAACTATAAATTAGAAAC ACACAAATAAATTTAAACTATAAATTAGAAAC - TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 ACACAAATAAATTTAAACTATAAATTAGAAAC ACACAAATAAATTTAAACTATAAATTAGAAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 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 LDLRAD4 0 genome.wustl.edu 37 18 13387561 13387561 + R SNP C C A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 18 13387561 13387561 C A SNP LDLRAD4 ENST00000590371 human ensembl 74_37 +1 putative rna NULL NULL 0.925 - - - no_errors LDLRAD4 HGNC ENSG00000168675 tier1 - - 41 0 0.00 13 3 18.75 2 0 0.00 0 0 0.00 MN1 0 genome.wustl.edu 37 22 28194945 28194945 + Silent SNP C C T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 22 28194945 28194945 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known silent c.1587 p.Q529 0.972 NULL NULL - no_errors MN1 HGNC ENSG00000169184 tier1 - - 61 0 0.00 18 9 33.33 0 0 0.00 6 0 0.00 SSX1 0 genome.wustl.edu 37 X 48125797 48125797 + Missense_Mutation SNP G G T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 X 48125797 48125797 G T SNP SSX1 ENST00000376919 human ensembl 74_37 +1 known missense c.542 p.S181I 0.735 pfam_SSXRD_motif pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX1 HGNC ENSG00000126752 tier1 - - 353 0 0.00 140 81 36.65 2 0 0.00 6 1 14.29 UMODL1 0 genome.wustl.edu 37 21 43531405 43531405 + Silent SNP G G T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 21 43531405 43531405 G T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.2073 p.R691 0.000 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 24 0 0.00 16 4 20.00 3 0 0.00 0 1 100.00 C7orf10 0 genome.wustl.edu 37 7 40277290 40277290 + Missense_Mutation SNP G G A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 7 40277290 40277290 G A SNP C7orf10 ENST00000309930 human ensembl 74_37 +1 known missense c.562 p.A188T 1.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 tier1 - - 47 0 0.00 26 4 12.90 109 0 0.00 111 2 1.77 TEKT3 0 genome.wustl.edu 37 17 15215789 15215789 + Silent SNP C C T TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 17 15215789 15215789 C T SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known silent c.888 p.V296 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 tier1 - - 40 0 0.00 32 7 17.95 62 0 0.00 74 2 2.63 RNPC3 0 genome.wustl.edu 37 1 104076466 104076467 + Frame_Shift_Ins INS - - A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac690007-d6de-4a5c-b7fc-72c128815ebe 26b5714d-b99a-4e34-9e74-e7746a0bd867 1 104076466 104076467 - A INS RNPC3 ENST00000423855 human ensembl 74_37 +1 known frame_shift_ins c.346_347 p.K120fs 0.748:0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 46 0 0.00 31 6 16.22 23 0 0.00 22 2 8.33