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 KLC3 0 genome.wustl.edu 37 19 45849840 45849840 + Missense_Mutation SNP G G T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 19 45849840 45849840 G T SNP KLC3 ENST00000470402 human ensembl 74_37 +1 known missense c.339 p.E113D 1.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC ENSG00000104892 tier1 - - 26 0 0.00 4 16 80.00 9 0 0.00 11 6 35.29 DMD 0 genome.wustl.edu 37 X 32407760 32407760 + Missense_Mutation SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c X 32407760 32407760 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.4376 p.R1459Q 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 35 0 0.00 0 11 100.00 63 0 0.00 21 29 58.00 ERC2 0 genome.wustl.edu 37 3 55542496 55542496 + R SNP T T C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 3 55542496 55542496 T C SNP ERC2 ENST00000486496 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 34 0 0.00 27 5 15.62 116 0 0.00 81 14 14.74 CENPE 0 genome.wustl.edu 37 4 104070553 104070553 + Missense_Mutation SNP G G C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 4 104070553 104070553 G C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.3409 p.Q1137E 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 49 0 0.00 10 5 33.33 100 0 0.00 44 25 36.23 GCN1L1 0 genome.wustl.edu 37 12 120569000 120569000 + Missense_Mutation SNP T T C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 12 120569000 120569000 T C SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.7552 p.T2518A 0.978 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 - - 64 0 0.00 17 11 39.29 96 0 0.00 71 23 24.47 GALK1 0 genome.wustl.edu 37 17 73759480 73759480 + Silent SNP T T G TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 17 73759480 73759480 T G SNP GALK1 ENST00000437911 human ensembl 74_37 -1 known silent c.486 p.S162 0.994 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 tier1 - - 78 0 0.00 57 22 27.85 42 0 0.00 44 17 27.87 MORC1 0 genome.wustl.edu 37 3 108698399 108698399 + Missense_Mutation SNP C C G TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 3 108698399 108698399 C G SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.2440 p.V814L 0.331 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 39 0 0.00 16 4 20.00 98 0 0.00 82 24 22.64 KLHL21 0 genome.wustl.edu 37 1 6659372 6659372 + Missense_Mutation SNP C C A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 1 6659372 6659372 C A SNP KLHL21 ENST00000377658 human ensembl 74_37 -1 known missense c.1162 p.A388S 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL21 HGNC ENSG00000162413 tier1 - - 15 0 0.00 18 8 30.77 18 0 0.00 20 5 20.00 TMA16 0 genome.wustl.edu 37 4 164415938 164415938 + R SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 4 164415938 164415938 C T SNP TMA16 ENST00000511562 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TMA16 HGNC ENSG00000198498 tier1 - - 119 0 0.00 49 7 12.50 53 0 0.00 29 7 19.44 PARVB 0 genome.wustl.edu 37 22 44395249 44395249 + Missense_Mutation SNP G G T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 22 44395249 44395249 G T SNP PARVB ENST00000406477 human ensembl 74_37 +1 known missense c.29 p.R10I 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 tier1 - - 77 0 0.00 39 8 17.02 149 0 0.00 114 40 25.97 PCDHB8 0 genome.wustl.edu 37 5 140559053 140559053 + Missense_Mutation SNP G G C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 5 140559053 140559053 G C SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1438 p.D480H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 tier1 - - 651 0 0.00 423 54 11.30 13 0 0.00 15 3 16.67 C3orf55 0 genome.wustl.edu 37 3 157318113 157318113 + Silent SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 3 157318113 157318113 C T SNP C3orf55 ENST00000426338 human ensembl 74_37 +1 known silent c.345 p.Y115 0.000 NULL NULL - no_errors C3orf55 HGNC ENSG00000174899 tier1 - - 64 0 0.00 29 29 50.00 138 0 0.00 101 48 32.21 LMF2 0 genome.wustl.edu 37 22 50942780 50942780 + Silent SNP A A C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 22 50942780 50942780 A C SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known silent c.1707 p.P569 0.927 pfam_LMF pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 tier1 - - 165 0 0.00 64 45 40.54 18 0 0.00 15 10 40.00 PTP4A1 0 genome.wustl.edu 37 6 64286413 64286413 + Missense_Mutation SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 6 64286413 64286413 C T SNP PTP4A1 ENST00000578299 human ensembl 74_37 +1 putative missense c.112 p.H38Y 1.000 NULL NULL - no_errors PTP4A1 HGNC ENSG00000112245 tier1 - - 49 0 0.00 17 11 39.29 35 0 0.00 29 26 47.27 SMARCA2 0 genome.wustl.edu 37 9 2104085 2104085 + Missense_Mutation SNP C C A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 9 2104085 2104085 C A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.3208 p.L1070M 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 82 0 0.00 23 42 64.62 91 0 0.00 31 86 73.50 COL4A4 0 genome.wustl.edu 37 2 227872807 227872807 + Missense_Mutation SNP T T C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 2 227872807 227872807 T C SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.4736 p.H1579R 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 tier1 - - 84 0 0.00 30 6 16.67 22 0 0.00 12 4 25.00 PIPSL 0 genome.wustl.edu 37 10 95719666 95719666 + R SNP G G A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 10 95719666 95719666 G A SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 - - 106 0 0.00 52 18 25.35 146 0 0.00 106 27 20.30 MRGPRG-AS1 0 genome.wustl.edu 37 11 3243183 3243183 + R SNP C C G TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 11 3243183 3243183 C G SNP MRGPRG-AS1 ENST00000420873 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MRGPRG-AS1 HGNC ENSG00000236301 tier1 - - 85 0 0.00 42 26 38.24 60 0 0.00 42 35 45.45 RABGGTB 0 genome.wustl.edu 37 1 76255463 76255463 + R SNP G G C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 1 76255463 76255463 G C SNP RABGGTB ENST00000461653 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RABGGTB HGNC ENSG00000137955 tier1 - - 14 0 0.00 13 5 27.78 84 0 0.00 94 15 13.64 DH11 0 genome.wustl.edu 37 7 21940719 21940719 + Silent SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 7 21940719 21940719 C T SNP DH11 ENST00000328843 human ensembl 74_37 +1 known silent c.13419 p.P4473 0.017 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH11 HGNC ENSG00000105877 tier1 rs72658836 - 52 0 0.00 20 15 42.86 53 0 0.00 55 23 29.49 CADPS 0 genome.wustl.edu 37 3 62578348 62578348 + Silent SNP T T C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 3 62578348 62578348 T C SNP CADPS ENST00000383710 human ensembl 74_37 -1 known silent c.1401 p.T467 0.729 superfamily_C2_dom pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 53 0 0.00 42 9 17.65 100 0 0.00 111 33 22.92 PGM5 0 genome.wustl.edu 37 9 70999430 70999430 + Missense_Mutation SNP G G C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 9 70999430 70999430 G C SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.541 p.D181H 1.000 superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 tier1 - - 126 0 0.00 112 10 8.20 67 0 0.00 86 13 13.13 OR4C16 0 genome.wustl.edu 37 11 55340374 55340374 + Silent SNP A A C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 11 55340374 55340374 A C SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known silent c.771 p.T257 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 tier1 - - 100 0 0.00 46 72 61.02 112 0 0.00 71 198 73.61 FRS2 0 genome.wustl.edu 37 12 69964267 69964267 + Missense_Mutation SNP G G A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 12 69964267 69964267 G A SNP FRS2 ENST00000299293 human ensembl 74_37 +1 known missense c.223 p.E75K 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS2 HGNC ENSG00000166225 tier1 - - 63 0 0.00 280 31 9.97 109 0 0.00 566 96 14.50 TRIML2 0 genome.wustl.edu 37 4 189026407 189026407 + Missense_Mutation SNP C C A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 4 189026407 189026407 C A SNP TRIML2 ENST00000536972 human ensembl 74_37 -1 known missense c.116 p.S39I 0.000 pfam_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfscan_Znf_B-box - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 67 0 0.00 22 7 24.14 85 0 0.00 30 32 50.79 ELOVL7 0 genome.wustl.edu 37 5 60062402 60062402 + Missense_Mutation SNP G G A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 5 60062402 60062402 G A SNP ELOVL7 ENST00000425382 human ensembl 74_37 -1 known missense c.392 p.T131M 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL7 HGNC ENSG00000164181 tier1 - - 72 0 0.00 34 8 19.05 129 0 0.00 99 12 10.81 ZFP69 0 genome.wustl.edu 37 1 40960772 40960772 + Missense_Mutation SNP G G A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 1 40960772 40960772 G A SNP ZFP69 ENST00000372705 human ensembl 74_37 +1 known missense c.622 p.D208N 0.006 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 tier1 - - 71 0 0.00 29 14 32.56 100 0 0.00 72 63 46.67 GRAMD2 0 genome.wustl.edu 37 15 72459382 72459382 + Missense_Mutation SNP G G A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 15 72459382 72459382 G A SNP GRAMD2 ENST00000309731 human ensembl 74_37 -1 known missense c.424 p.R142W 0.731 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 tier1 rs141536149 - 93 0 0.00 37 13 26.00 92 0 0.00 45 35 43.75 GLIPR1L1 0 genome.wustl.edu 37 12 75728540 75728540 + Nonsense_Mutation SNP G G A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 12 75728540 75728540 G A SNP GLIPR1L1 ENST00000378695 human ensembl 74_37 +1 known nonsense c.32 p.W11* 0.980 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1L1 HGNC ENSG00000173401 tier1 - - 79 0 0.00 136 39 22.29 139 0 0.00 301 78 20.58 GBP1 0 genome.wustl.edu 37 1 89520439 89520439 + Missense_Mutation SNP G G T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 1 89520439 89520439 G T SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.1591 p.L531M 0.003 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 tier1 - - 65 0 0.00 34 5 12.82 112 0 0.00 85 12 12.37 RNF216 0 genome.wustl.edu 37 7 5780626 5780626 + Missense_Mutation SNP A A G TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 7 5780626 5780626 A G SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.1022 p.V341A 0.960 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 tier1 - - 40 0 0.00 11 14 56.00 107 0 0.00 38 34 47.22 LRRC53 0 genome.wustl.edu 37 1 74946127 74946127 + Missense_Mutation SNP T T C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 1 74946127 74946127 T C SNP LRRC53 ENST00000294635 human ensembl 74_37 -1 novel missense c.614 p.Q205R 0.621 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 tier1 - - 34 0 0.00 28 15 34.09 139 0 0.00 72 63 46.67 NBEAL1 0 genome.wustl.edu 37 2 203972519 203972519 + Silent SNP G G T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 2 203972519 203972519 G T SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known silent c.1470 p.G490 0.910 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 tier1 - - 89 0 0.00 27 22 44.90 142 0 0.00 90 34 27.20 MKI67 0 genome.wustl.edu 37 10 129914188 129914188 + Missense_Mutation SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 10 129914188 129914188 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.484 p.V162I 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 57 0 0.00 25 6 19.35 106 0 0.00 66 20 23.26 DOCK3 0 genome.wustl.edu 37 3 51315040 51315040 + Missense_Mutation SNP A A T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 3 51315040 51315040 A T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.2678 p.E893V 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 42 0 0.00 15 5 25.00 53 0 0.00 39 13 25.00 OBSCN 0 genome.wustl.edu 37 1 228466604 228466604 + Silent SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 1 228466604 228466604 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.7074 p.T2358 0.286 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 - - 64 0 0.00 33 19 36.54 90 0 0.00 39 13 25.00 FAM160A1 0 genome.wustl.edu 37 4 152498908 152498908 + Missense_Mutation SNP C C A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 4 152498908 152498908 C A SNP FAM160A1 ENST00000435205 human ensembl 74_37 +1 known missense c.412 p.P138T 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 tier1 - - 63 0 0.00 19 9 32.14 100 0 0.00 53 11 17.19 DAPK2 0 genome.wustl.edu 37 15 64204333 64204333 + Missense_Mutation SNP T T C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 15 64204333 64204333 T C SNP DAPK2 ENST00000261891 human ensembl 74_37 -1 known missense c.922 p.K308E 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 tier1 - - 70 0 0.00 22 15 40.54 94 0 0.00 34 15 30.61 ZFP41 0 genome.wustl.edu 37 8 144332442 144332442 + Missense_Mutation SNP C C A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 8 144332442 144332442 C A SNP ZFP41 ENST00000330701 human ensembl 74_37 +1 known missense c.429 p.F143L 0.005 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ENSG00000181638 tier1 - - 29 0 0.00 25 15 37.50 93 0 0.00 88 44 33.33 DLX1 0 genome.wustl.edu 37 2 172950416 172950416 + Missense_Mutation SNP C C G TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 2 172950416 172950416 C G SNP DLX1 ENST00000361725 human ensembl 74_37 +1 known missense c.11 p.T4S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX1 HGNC ENSG00000144355 tier1 - - 75 0 0.00 44 5 10.20 153 0 0.00 142 25 14.97 KCTD10 0 genome.wustl.edu 37 12 109895815 109895816 + Frame_Shift_Del DEL AA AA - TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 AA AA AA - AA AA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 12 109895815 109895816 AA - DEL KCTD10 ENST00000228495 human ensembl 74_37 -1 known frame_shift_del c.456_455 p.L152fs 0.921:1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 tier1 70 0 0.00 34 10 22.73 161 0 0.00 102 26 20.31 PABPC3 0 genome.wustl.edu 37 13 25671937 25671937 + Missense_Mutation SNP T T A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 13 25671937 25671937 T A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.1601 p.V534E 1.000 superfamily_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 tier1 - - 95 0 0.00 14 29 65.91 23 0 0.00 4 17 80.95 TMEM123 0 genome.wustl.edu 37 11 102323281 102323281 + Missense_Mutation SNP G G A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 11 102323281 102323281 G A SNP TMEM123 ENST00000398136 human ensembl 74_37 -1 known missense c.74 p.A25V 0.006 NULL NULL - no_errors TMEM123 HGNC ENSG00000152558 tier1 - - 27 0 0.00 2 6 75.00 5 0 0.00 0 2 100.00 DOCK7 0 genome.wustl.edu 37 1 63009394 63009394 + Missense_Mutation SNP C C G TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 1 63009394 63009394 C G SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.2882 p.R961P 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 tier1 - - 68 0 0.00 50 6 10.71 129 0 0.00 157 14 8.14 KCNH8 0 genome.wustl.edu 37 3 19492831 19492831 + Missense_Mutation SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 3 19492831 19492831 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1760 p.A587V 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom 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 - - 63 0 0.00 46 5 9.80 99 0 0.00 116 6 4.92 SSH3 0 genome.wustl.edu 37 11 67075389 67075389 + Silent SNP G G A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 11 67075389 67075389 G A SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known silent c.864 p.L288 1.000 pfam_DEK_C pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 tier1 - - 64 0 0.00 91 9 9.00 70 0 0.00 148 12 7.50 MYH7 0 genome.wustl.edu 37 14 23898537 23898537 + Nonsense_Mutation SNP G G T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 14 23898537 23898537 G T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known nonsense c.1158 p.Y386* 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 35 0 0.00 24 4 14.29 92 0 0.00 91 10 9.90 SSH3 0 genome.wustl.edu 37 11 67075390 67075390 + Missense_Mutation SNP G G A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 11 67075390 67075390 G A SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.865 p.E289K 1.000 pfam_DEK_C pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 tier1 - - 68 0 0.00 92 9 8.91 68 0 0.00 146 12 7.59 CARD14 0 genome.wustl.edu 37 17 78169122 78169122 + Missense_Mutation SNP T T C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 17 78169122 78169122 T C SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known missense c.1489 p.W497R 0.075 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 tier1 - - 75 0 0.00 79 8 9.20 71 0 0.00 76 7 8.43 SPATA18 0 genome.wustl.edu 37 4 52948721 52948721 + Silent SNP T T A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 4 52948721 52948721 T A SNP SPATA18 ENST00000505320 human ensembl 74_37 +1 known silent c.1524 p.I508 0.986 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 tier1 - - 63 0 0.00 33 4 10.81 142 0 0.00 183 16 8.04 PDE11A 0 genome.wustl.edu 37 2 178592479 178592479 + Nonsense_Mutation SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 2 178592479 178592479 C T SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known nonsense c.1950 p.W650* 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 tier1 - - 79 0 0.00 54 6 10.00 148 0 0.00 101 11 9.82 SDHAP3 0 genome.wustl.edu 37 5 1589412 1589412 + R SNP A A G TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 5 1589412 1589412 A G SNP SDHAP3 ENST00000436493 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP3 HGNC ENSG00000185986 tier1 - - 111 0 0.00 63 8 11.27 103 0 0.00 92 4 4.17 ATP13A4 0 genome.wustl.edu 37 3 193130047 193130047 + Missense_Mutation SNP A A C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 3 193130047 193130047 A C SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.3128 p.F1043C 1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 tier1 - - 65 0 0.00 64 10 13.51 144 0 0.00 149 15 9.09 ZNF341 0 genome.wustl.edu 37 20 32346565 32346565 + Silent SNP T T C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 20 32346565 32346565 T C SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known silent c.981 p.C327 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 tier1 - - 41 0 0.00 31 4 11.43 35 0 0.00 51 5 8.93 GLIPR1L1 0 genome.wustl.edu 37 12 75728541 75728541 + Missense_Mutation SNP G G T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 12 75728541 75728541 G T SNP GLIPR1L1 ENST00000378695 human ensembl 74_37 +1 known missense c.33 p.W11C 0.964 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1L1 HGNC ENSG00000173401 tier1 - - 78 0 0.00 136 38 21.84 138 2 1.43 300 77 20.42 BNIP3L 0 genome.wustl.edu 37 8 26240684 26240686 + In_Frame_Del DEL ACA ACA - TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 8 26240684 26240686 ACA - DEL BNIP3L ENST00000380629 human ensembl 74_37 +1 known in_frame_del c.38_40 p.N17in_frame_del 0.999:1.000:1.000 NULL pfam_BNIP3 - no_errors BNIP3L HGNC ENSG00000104765 tier1 33 0 0.00 16 2 11.11 17 0 0.00 7 0 0.00 LHFPL4 0 genome.wustl.edu 37 3 9594382 9594384 + R DEL CGG CGG - TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 3 9594382 9594384 CGG - DEL LHFPL4 ENST00000498277 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors LHFPL4 HGNC ENSG00000156959 tier1 27 0 0.00 22 2 8.33 14 0 0.00 8 0 0.00 SOX12 0 genome.wustl.edu 37 20 307372 307372 + Silent SNP C C T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 20 307372 307372 C T SNP SOX12 ENST00000342665 human ensembl 74_37 +1 known silent c.804 p.S268 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX12 HGNC ENSG00000177732 tier1 - - 35 0 0.00 20 7 25.93 7 0 0.00 2 0 0.00 DCAF12L2 0 genome.wustl.edu 37 X 125299630 125299630 + Missense_Mutation SNP T T C TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c X 125299630 125299630 T C SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.278 p.D93G 0.382 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 46 0 0.00 18 8 30.77 1 0 0.00 1 0 0.00 MTMR12 0 genome.wustl.edu 37 5 32312936 32312936 + Frame_Shift_Del DEL C C - TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 5 32312936 32312936 C - DEL MTMR12 ENST00000382142 human ensembl 74_37 -1 known frame_shift_del c.9 p.G5fs 1.000 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 tier1 19 0 0.00 9 2 18.18 3 0 0.00 4 0 0.00 PCDHB4 0 genome.wustl.edu 37 5 140503455 140503455 + Silent SNP C C A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 5 140503455 140503455 C A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.1875 p.T625 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 185 0 0.00 110 20 15.38 0 0 0.00 0 0 0.00 PRDM6 0 genome.wustl.edu 37 5 122425971 122425972 + In_Frame_Ins INS - - CCTCCGCCT TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 5 122425971 122425972 - CCTCCGCCT INS PRDM6 ENST00000407847 human ensembl 74_37 +1 known in_frame_ins c.262_263 p.92in_frame_insSAS 0.997:1.000 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM6 HGNC ENSG00000061455 tier1 2 0 0.00 3 0 0.00 2 0 0.00 3 0 0.00 NUDT17 0 genome.wustl.edu 37 1 145588455 145588455 + Missense_Mutation SNP G G T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 1 145588455 145588455 G T SNP NUDT17 ENST00000334513 human ensembl 74_37 -1 known missense c.418 p.L140I 0.064 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT17 HGNC ENSG00000186364 tier1 - - 53 0 0.00 44 4 8.33 81 0 0.00 132 2 1.49 CTN3 0 genome.wustl.edu 37 10 68139076 68139076 + Silent SNP G G T TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1b8bbbbc-18c8-4599-8f06-6963740cb2ed e26d0fc4-07ec-4e1d-816c-6d4df7e3996c 10 68139076 68139076 G T SNP CTN3 ENST00000373744 human ensembl 74_37 -1 known silent c.1566 p.I522 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN3 HGNC ENSG00000183230 tier1 - - 57 0 0.00 38 4 9.52 85 0 0.00 94 2 2.08