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 SVOPL 0 genome.wustl.edu 37 7 138305823 138305823 + Missense_Mutation SNP T T G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 138305823 138305823 T G SNP SVOPL ENST00000288513 human ensembl 74_37 -1 known missense c.865 p.I289L 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 tier1 - - 46 0 0.00 32 6 15.79 43 0 0.00 34 10 22.73 TMEM63B 0 genome.wustl.edu 37 6 44118302 44118302 + Missense_Mutation SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 44118302 44118302 C A SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.1609 p.L537M 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 tier1 - - 34 0 0.00 19 10 34.48 104 0 0.00 24 23 47.92 FGF3 0 genome.wustl.edu 37 11 69625374 69625374 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 69625374 69625374 G A SNP FGF3 ENST00000334134 human ensembl 74_37 -1 known missense c.419 p.T140M 0.020 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF3 HGNC ENSG00000186895 tier1 - - 84 0 0.00 71 30 29.70 55 0 0.00 53 15 22.06 TMEM39B 0 genome.wustl.edu 37 1 32540672 32540672 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 32540672 32540672 G A SNP TMEM39B ENST00000336294 human ensembl 74_37 +1 known missense c.125 p.R42H 1.000 NULL pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 tier1 - - 63 0 0.00 37 9 19.57 88 0 0.00 86 20 18.69 TPRX1 0 genome.wustl.edu 37 19 48305590 48305590 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 48305590 48305590 T C SNP TPRX1 ENST00000535759 human ensembl 74_37 -1 known silent c.969 p.P323 0.035 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX1 HGNC ENSG00000178928 tier1 rs12461263 - 148 0 0.00 80 18 18.37 35 0 0.00 43 7 14.00 SLC5A11 0 genome.wustl.edu 37 16 24895407 24895407 + Nonsense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 24895407 24895407 C T SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known nonsense c.619 p.Q207* 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 tier1 - - 22 0 0.00 9 7 43.75 65 0 0.00 36 12 25.00 BCL6B 0 genome.wustl.edu 37 17 6930824 6930824 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 6930824 6930824 C T SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known silent c.1326 p.C442 0.983 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 tier1 - - 69 0 0.00 30 9 23.08 47 0 0.00 18 17 48.57 CTBP2 0 genome.wustl.edu 37 10 126715774 126715774 + Silent SNP A A T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 126715774 126715774 A T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known silent c.555 p.S185 0.636 NULL pfam_D-isomer_2_OHA_DH_D-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 tier1 - - 71 0 0.00 58 11 15.71 49 0 0.00 42 13 23.64 DGKE 0 genome.wustl.edu 37 17 54939227 54939227 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 54939227 54939227 G A SNP DGKE ENST00000284061 human ensembl 74_37 +1 known missense c.1360 p.G454S 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 tier1 - - 83 0 0.00 55 16 22.54 118 0 0.00 99 28 21.88 ITPR2 0 genome.wustl.edu 37 12 26775294 26775294 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 26775294 26775294 G A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.3167 p.T1056M 0.999 superfamily_ARM-type_fold 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 ITPR2 HGNC ENSG00000123104 tier1 - - 37 0 0.00 24 7 22.58 85 0 0.00 58 23 28.40 KIF3B 0 genome.wustl.edu 37 20 30898718 30898718 + Nonsense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 30898718 30898718 C T SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known nonsense c.1138 p.R380* 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 tier1 - - 23 0 0.00 19 11 36.67 66 0 0.00 43 16 25.81 DTYMK 0 genome.wustl.edu 37 2 242615580 242615580 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 242615580 242615580 T C SNP DTYMK ENST00000305784 human ensembl 74_37 -1 known missense c.601 p.T201A 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase - no_errors DTYMK HGNC ENSG00000168393 tier1 - - 42 0 0.00 13 16 55.17 39 0 0.00 26 10 27.78 FIGLA 0 genome.wustl.edu 37 2 71012570 71012570 + Missense_Mutation SNP T T A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 71012570 71012570 T A SNP FIGLA ENST00000332372 human ensembl 74_37 -1 known missense c.586 p.I196F 0.015 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FIGLA HGNC ENSG00000183733 tier1 - - 63 0 0.00 68 23 25.27 69 0 0.00 46 23 33.33 LOC150776 0 genome.wustl.edu 37 2 132277119 132277119 + R SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 132277119 132277119 G A SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 tier1 - - 30 0 0.00 21 6 22.22 49 0 0.00 35 6 14.63 ZNF518B 0 genome.wustl.edu 37 4 10447632 10447632 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 10447632 10447632 C T SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known silent c.321 p.A107 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 tier1 - - 27 0 0.00 18 12 40.00 91 0 0.00 40 12 23.08 SP3 0 genome.wustl.edu 37 2 174774931 174774931 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 174774931 174774931 T C SNP SP3 ENST00000310015 human ensembl 74_37 -1 known missense c.2084 p.H695R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 tier1 - - 37 0 0.00 36 14 28.00 72 0 0.00 65 28 30.11 CCDC87 0 genome.wustl.edu 37 11 66360012 66360012 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 66360012 66360012 C T SNP CCDC87 ENST00000333861 human ensembl 74_37 -1 known missense c.475 p.A159T 1.000 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 tier1 - - 42 0 0.00 18 10 35.71 72 1 1.37 49 20 28.99 XIST 0 genome.wustl.edu 37 X 73046604 73046604 + R SNP T T G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca X 73046604 73046604 T G SNP XIST ENST00000421322 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 49 0 0.00 11 15 57.69 90 0 0.00 34 52 60.47 KIF23 0 genome.wustl.edu 37 15 69732777 69732777 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 69732777 69732777 G A SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known missense c.2018 p.R673Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 tier1 - - 44 0 0.00 27 11 28.95 95 0 0.00 67 26 27.96 SRP68 0 genome.wustl.edu 37 17 74053539 74053539 + Missense_Mutation SNP T T A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 74053539 74053539 T A SNP SRP68 ENST00000307877 human ensembl 74_37 -1 known missense c.923 p.D308V 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 tier1 - - 103 0 0.00 98 40 28.78 127 0 0.00 92 41 30.83 SRRM4 0 genome.wustl.edu 37 12 119592120 119592120 + Silent SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 119592120 119592120 G T SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known silent c.1464 p.R488 0.998 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 tier1 - - 158 0 0.00 105 48 31.17 23 0 0.00 10 6 37.50 F5 0 genome.wustl.edu 37 1 169524539 169524539 + Silent SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 169524539 169524539 G T SNP F5 ENST00000367797 human ensembl 74_37 -1 known silent c.999 p.T333 0.065 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 tier1 - - 43 0 0.00 47 17 26.56 80 0 0.00 67 22 24.72 GBA2 0 genome.wustl.edu 37 9 35744370 35744370 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 35744370 35744370 C T SNP GBA2 ENST00000545786 human ensembl 74_37 -1 known missense c.491 p.R164H 0.984 pfam_GBA2_N,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 tier1 rs192753525 GMAF=0.0005 36 0 0.00 27 7 20.59 151 0 0.00 185 35 15.91 PRPF6 0 genome.wustl.edu 37 20 62632529 62632529 + Missense_Mutation SNP A A T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 62632529 62632529 A T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.1123 p.I375F 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 tier1 - - 26 0 0.00 17 5 22.73 99 0 0.00 74 38 33.93 NBEAL1 0 genome.wustl.edu 37 2 203991416 203991416 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 203991416 203991416 G A SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.3035 p.R1012H 1.000 NULL 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 - - 78 0 0.00 37 23 38.33 120 0 0.00 56 28 33.33 ANKFN1 0 genome.wustl.edu 37 17 54588480 54588480 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 54588480 54588480 G A SNP ANKFN1 ENST00000566473 human ensembl 74_37 +1 novel silent c.3300 p.A1100 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 tier1 - - 75 0 0.00 59 28 32.18 19 0 0.00 14 5 26.32 CABP1 0 genome.wustl.edu 37 12 121098562 121098562 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 121098562 121098562 C T SNP CABP1 ENST00000316803 human ensembl 74_37 +1 known silent c.858 p.F286 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 tier1 - - 71 0 0.00 58 15 20.55 145 0 0.00 107 24 18.32 OR5V1 0 genome.wustl.edu 37 6 29323056 29323056 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 29323056 29323056 C T SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.917 p.S306N 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 tier1 - - 66 0 0.00 44 20 31.25 103 0 0.00 45 26 36.62 TTC24 0 genome.wustl.edu 37 1 156555138 156555138 + R SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 156555138 156555138 T C SNP TTC24 ENST00000478081 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC24 HGNC ENSG00000187862 tier1 - - 36 0 0.00 22 6 21.43 70 0 0.00 57 10 14.93 FRMPD3 0 genome.wustl.edu 37 X 106843776 106843776 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca X 106843776 106843776 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.2606 p.P869L 0.990 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 9 0 0.00 5 7 58.33 53 0 0.00 22 35 61.40 VWA5B1 0 genome.wustl.edu 37 1 20669069 20669069 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 20669069 20669069 C T SNP VWA5B1 ENST00000289815 human ensembl 74_37 +1 known missense c.2278 p.R760W 0.001 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 tier1 - - 98 0 0.00 71 21 22.83 75 0 0.00 57 18 23.68 BCAM 0 genome.wustl.edu 37 19 45316842 45316842 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 45316842 45316842 G A SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.749 p.R250H 0.991 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 tier1 - - 25 0 0.00 9 7 43.75 25 0 0.00 17 14 45.16 ARHGEF17 0 genome.wustl.edu 37 11 73071453 73071453 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 73071453 73071453 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.4295 p.P1432L 0.995 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 rs140312706 - 38 0 0.00 23 7 23.33 20 0 0.00 26 3 10.34 C10orf68 0 genome.wustl.edu 37 10 32983811 32983811 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 32983811 32983811 T C SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known silent c.270 p.H90 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 144 0 0.00 76 45 36.89 82 0 0.00 39 15 27.78 FN1 0 genome.wustl.edu 37 2 216288076 216288076 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 216288076 216288076 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.1390 p.A464T 1.000 superfamily_Kringle-like pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 46 0 0.00 34 10 22.73 117 0 0.00 58 27 31.76 CPSF6 0 genome.wustl.edu 37 12 69652407 69652407 + Silent SNP A A C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 69652407 69652407 A C SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known silent c.843 p.P281 0.997 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 tier1 - - 80 0 0.00 35 12 25.53 75 1 1.32 63 19 23.17 SYNE1 0 genome.wustl.edu 37 6 152826384 152826384 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 152826384 152826384 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.730 p.T244A 0.356 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 50 0 0.00 39 17 30.36 131 0 0.00 90 29 24.37 BLVRB 0 genome.wustl.edu 37 19 40964425 40964425 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 40964425 40964425 T C SNP BLVRB ENST00000263368 human ensembl 74_37 -1 known missense c.107 p.D36G 0.993 pfam_NmrA,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase pfam_NmrA,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase - no_errors BLVRB HGNC ENSG00000090013 tier1 - - 10 0 0.00 11 6 35.29 29 0 0.00 32 16 33.33 ITGA10 0 genome.wustl.edu 37 1 145535815 145535815 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 145535815 145535815 G A SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.2003 p.R668Q 0.696 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 tier1 - - 26 0 0.00 14 13 48.15 68 0 0.00 58 24 29.27 NRD1 0 genome.wustl.edu 37 1 52280213 52280213 + R SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 52280213 52280213 T C SNP NRD1 ENST00000483007 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors NRD1 HGNC ENSG00000078618 tier1 - - 73 0 0.00 47 10 17.24 96 0 0.00 57 24 29.63 BLMH 0 genome.wustl.edu 37 17 28601155 28601155 + Nonsense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 28601155 28601155 G A SNP BLMH ENST00000261714 human ensembl 74_37 -1 known nonsense c.706 p.R236* 1.000 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 tier1 - - 156 0 0.00 70 38 35.19 96 0 0.00 63 31 32.98 NDRG1 0 genome.wustl.edu 37 8 134266812 134266812 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 134266812 134266812 C T SNP NDRG1 ENST00000323851 human ensembl 74_37 -1 known silent c.564 p.P188 0.000 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 tier1 - - 66 0 0.00 58 26 30.95 92 0 0.00 74 36 32.73 TUBE1 0 genome.wustl.edu 37 6 112393216 112393216 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 112393216 112393216 G A SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known silent c.1158 p.S386 0.969 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 tier1 - - 57 0 0.00 71 18 20.22 63 1 1.56 74 11 12.94 LOC728554 0 genome.wustl.edu 37 5 177310858 177310858 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 177310858 177310858 C T SNP LOC728554 ENST00000506672 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-423H2.1 Clone_based_vega_gene ENSG00000170089 tier1 - - 56 0 0.00 46 7 13.21 62 0 0.00 51 14 21.54 ENSG00000242288 0 genome.wustl.edu 37 10 75480331 75480331 + R SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 75480331 75480331 G A SNP ENSG00000242288 ENST00000399449 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 tier1 - - 382 0 0.00 310 89 22.25 54 0 0.00 37 7 15.91 TTC13 0 genome.wustl.edu 37 1 231067164 231067164 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 231067164 231067164 T C SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.1180 p.S394G 1.000 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 tier1 - - 43 0 0.00 49 13 20.97 108 0 0.00 77 20 20.62 NMD3 0 genome.wustl.edu 37 3 160960405 160960405 + Silent SNP A A T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 160960405 160960405 A T SNP NMD3 ENST00000351193 human ensembl 74_37 +1 known silent c.981 p.I327 0.520 NULL pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 tier1 - - 65 0 0.00 50 22 30.56 71 0 0.00 53 16 23.19 PRR12 0 genome.wustl.edu 37 19 50097789 50097789 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 50097789 50097789 C T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.278 p.S93L 0.999 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 tier1 - - 47 0 0.00 24 8 25.00 26 0 0.00 25 14 35.90 TMEM132C 0 genome.wustl.edu 37 12 128900080 128900080 + Missense_Mutation SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 128900080 128900080 C A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.889 p.P297T 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 38 0 0.00 25 13 34.21 97 0 0.00 76 19 20.00 GPRIN1 0 genome.wustl.edu 37 5 176025084 176025084 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 176025084 176025084 C T SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known silent c.1752 p.P584 0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 tier1 - - 57 0 0.00 54 13 19.40 106 0 0.00 66 16 19.51 GLIS2 0 genome.wustl.edu 37 16 4387501 4387501 + Silent SNP G G C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 4387501 4387501 G C SNP GLIS2 ENST00000262366 human ensembl 74_37 +1 known silent c.1551 p.L517 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 tier1 - - 70 0 0.00 41 7 14.58 20 0 0.00 14 2 12.50 KNTC1 0 genome.wustl.edu 37 12 123014670 123014670 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 123014670 123014670 C T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.60 p.V20 0.903 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 89 0 0.00 80 34 29.82 139 0 0.00 103 37 26.43 ACVR2B 0 genome.wustl.edu 37 3 38524696 38524696 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 38524696 38524696 C T SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known missense c.1412 p.A471V 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2B HGNC ENSG00000114739 tier1 - - 58 0 0.00 32 14 30.43 64 0 0.00 26 21 44.68 OR2T11 0 genome.wustl.edu 37 1 248789924 248789924 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 248789924 248789924 C T SNP OR2T11 ENST00000330803 human ensembl 74_37 -1 known missense c.506 p.R169Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T11 HGNC ENSG00000183130 tier1 - - 28 0 0.00 11 10 47.62 44 0 0.00 21 27 56.25 C1orf21 0 genome.wustl.edu 37 1 184588668 184588668 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 184588668 184588668 C T SNP C1orf21 ENST00000235307 human ensembl 74_37 +1 known missense c.344 p.S115L 1.000 NULL NULL - no_errors C1orf21 HGNC ENSG00000116667 tier1 - - 62 0 0.00 45 18 27.69 166 0 0.00 127 47 27.01 MMP19 0 genome.wustl.edu 37 12 56231653 56231653 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 56231653 56231653 C T SNP MMP19 ENST00000322569 human ensembl 74_37 -1 known missense c.1034 p.R345Q 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP19 HGNC ENSG00000123342 tier1 - - 77 0 0.00 41 18 30.51 114 1 0.87 113 31 21.53 OMP 0 genome.wustl.edu 37 11 76814248 76814248 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 76814248 76814248 C T SNP OMP ENST00000529803 human ensembl 74_37 +1 known silent c.363 p.D121 0.848 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 tier1 - - 42 0 0.00 27 13 32.50 67 0 0.00 44 24 34.78 DTWD1 0 genome.wustl.edu 37 15 49917553 49917553 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 49917553 49917553 T C SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known silent c.189 p.G63 0.941 NULL pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 tier1 - - 139 0 0.00 92 42 31.34 66 0 0.00 43 12 21.82 TCEA2 0 genome.wustl.edu 37 20 62694686 62694686 + Missense_Mutation SNP G G C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 62694686 62694686 G C SNP TCEA2 ENST00000343484 human ensembl 74_37 +1 known missense c.21 p.E7D 1.000 superfamily_TFIIS_N,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC ENSG00000171703 tier1 - - 30 0 0.00 2 6 75.00 25 0 0.00 24 3 11.11 MT1 0 genome.wustl.edu 37 14 61285544 61285544 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 14 61285544 61285544 G A SNP MT1 ENST00000261245 human ensembl 74_37 +1 known silent c.666 p.T222 0.127 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,tigrfam_MAT1/Tfb3 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3 - no_errors MT1 HGNC ENSG00000020426 tier1 rs143441995 - 80 0 0.00 42 21 33.33 170 0 0.00 50 45 47.37 KIF4B 0 genome.wustl.edu 37 5 154396339 154396339 + Nonsense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 154396339 154396339 C T SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known nonsense c.2920 p.R974* 0.502 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 - - 48 0 0.00 50 22 30.56 22 0 0.00 19 10 34.48 MAMDC2 0 genome.wustl.edu 37 9 72758568 72758568 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 72758568 72758568 C T SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.1237 p.R413C 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 tier1 - - 53 0 0.00 57 11 16.18 79 0 0.00 60 25 29.41 ENSG00000222012 0 genome.wustl.edu 37 7 157408190 157408190 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 157408190 157408190 G A SNP ENSG00000222012 ENST00000409610 human ensembl 74_37 +1 putative silent c.183 p.S61 0.000 NULL NULL - no_errors AC005481.5 Clone_based_vega_gene ENSG00000222012 tier1 - - 70 0 0.00 62 20 24.39 77 0 0.00 83 35 29.66 ZIM3 0 genome.wustl.edu 37 19 57646928 57646928 + Silent SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 57646928 57646928 G T SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known silent c.777 p.A259 0.983 smart_Znf_C2H2-like,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 ZIM3 HGNC ENSG00000141946 tier1 - - 48 0 0.00 36 4 10.00 96 0 0.00 57 16 21.92 LINC00085 0 genome.wustl.edu 37 19 52196888 52196888 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 52196888 52196888 C T SNP LINC00085 ENST00000573266 human ensembl 74_37 +1 known rna NULL NULL 0.332 - - - no_errors LINC00085 HGNC ENSG00000182310 tier1 - - 29 0 0.00 16 9 36.00 7 0 0.00 12 4 25.00 TOP3B 0 genome.wustl.edu 37 22 22313572 22313572 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 22 22313572 22313572 G A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.1837 p.P613S 1.000 superfamily_Topo_IA_core_domain pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_D-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 tier1 - - 32 0 0.00 20 11 35.48 50 0 0.00 48 14 22.58 LOC100129461 0 genome.wustl.edu 37 6 5030298 5030298 + R SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 5030298 5030298 C A SNP LOC100129461 ENST00000606761 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-428J1.5 Clone_based_vega_gene ENSG00000272142 tier1 - - 23 0 0.00 5 9 64.29 69 0 0.00 35 14 28.57 OR6N1 0 genome.wustl.edu 37 1 158736114 158736114 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 158736114 158736114 T C SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known missense c.359 p.Y120C 1.000 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 OR6N1 HGNC ENSG00000197403 tier1 - - 48 0 0.00 37 10 21.28 83 0 0.00 70 30 29.70 PTPN5 0 genome.wustl.edu 37 11 18762166 18762166 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 18762166 18762166 A G SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known missense c.899 p.L300P 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 tier1 - - 40 0 0.00 35 9 20.45 117 0 0.00 85 29 25.44 NEDD4 0 genome.wustl.edu 37 15 56164658 56164658 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 56164658 56164658 A G SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.1616 p.L539S 1.000 superfamily_C2_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 tier1 - - 133 0 0.00 158 46 22.55 55 0 0.00 75 24 24.24 IGSF9B 0 genome.wustl.edu 37 11 133781869 133781869 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 133781869 133781869 C T SNP IGSF9B ENST00000533871 human ensembl 74_37 -1 putative silent c.4017 p.A1339 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 - no_errors IGSF9B HGNC ENSG00000080854 tier1 - - 51 0 0.00 12 11 47.83 74 0 0.00 44 36 45.00 RELL2 0 genome.wustl.edu 37 5 141019123 141019123 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 141019123 141019123 G A SNP RELL2 ENST00000297164 human ensembl 74_37 +1 known missense c.410 p.R137H 0.998 NULL pfam_TNF_rcpt_RELT - no_errors RELL2 HGNC ENSG00000164620 tier1 rs139014914 - 82 0 0.00 44 20 31.25 22 0 0.00 26 6 18.18 TPD52L2 0 genome.wustl.edu 37 20 62500659 62500659 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 62500659 62500659 G A SNP TPD52L2 ENST00000217121 human ensembl 74_37 +1 known silent c.30 p.L10 1.000 NULL pfam_TPD52 - no_errors TPD52L2 HGNC ENSG00000101150 tier1 - - 69 0 0.00 54 16 22.86 94 0 0.00 75 25 25.00 SP4 0 genome.wustl.edu 37 7 21516784 21516784 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 21516784 21516784 C T SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.1766 p.T589M 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 tier1 - - 57 0 0.00 51 15 22.73 136 1 0.73 75 17 18.48 FLJ44006 0 genome.wustl.edu 37 2 111857883 111857883 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 111857883 111857883 C T SNP FLJ44006 ENST00000376593 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC096670.3 Clone_based_vega_gene ENSG00000204581 tier1 - - 54 0 0.00 33 15 31.25 64 0 0.00 46 7 13.21 CNTP3 0 genome.wustl.edu 37 9 39099915 39099915 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 39099915 39099915 G A SNP CNTP3 ENST00000297668 human ensembl 74_37 -1 known silent c.2988 p.C996 0.759 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP3 HGNC ENSG00000106714 tier1 - - 119 0 0.00 120 48 28.40 73 0 0.00 94 43 31.39 MTHFD2L 0 genome.wustl.edu 37 4 75040309 75040309 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 75040309 75040309 T C SNP MTHFD2L ENST00000395759 human ensembl 74_37 +1 known missense c.230 p.L77P 0.996 pfam_THF_DH/CycHdrlase_cat_dom pfam_THF_DH/CycHdrlase_D-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 tier1 - - 113 0 0.00 91 29 24.17 107 0 0.00 105 31 22.63 AXIN1 0 genome.wustl.edu 37 16 396193 396193 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 396193 396193 G A SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.833 p.P278L 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 tier1 rs147515329 - 48 0 0.00 20 11 35.48 22 0 0.00 33 13 28.26 MIR517A 0 genome.wustl.edu 37 19 54215555 54215555 + R SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 54215555 54215555 T C SNP MIR517A ENST00000385001 human ensembl 74_37 +1 known rna NULL NULL 0.134 - - - no_errors MIR517A HGNC ENSG00000207734 tier1 - - 112 0 0.00 79 22 21.78 10 0 0.00 13 3 18.75 AP1M2 0 genome.wustl.edu 37 19 10692454 10692454 + Missense_Mutation SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 10692454 10692454 G T SNP AP1M2 ENST00000590923 human ensembl 74_37 -1 known missense c.368 p.P123Q 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M2 HGNC ENSG00000129354 tier1 - - 46 0 0.00 38 15 28.30 30 0 0.00 34 9 20.93 NSG1 0 genome.wustl.edu 37 4 4411344 4411344 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 4411344 4411344 C T SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known silent c.291 p.V97 0.996 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 tier1 - - 51 0 0.00 32 15 31.91 77 0 0.00 70 22 23.91 USP36 0 genome.wustl.edu 37 17 76818061 76818061 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 76818061 76818061 T C SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.715 p.T239A 0.984 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 tier1 - - 80 0 0.00 56 22 28.21 172 0 0.00 149 40 21.16 TSX 0 genome.wustl.edu 37 1 231696971 231696971 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 231696971 231696971 G A SNP TSX ENST00000366639 human ensembl 74_37 +1 known silent c.465 p.T155 0.158 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSX HGNC ENSG00000116918 tier1 - - 86 0 0.00 93 29 23.77 50 0 0.00 56 18 24.32 SPATA22 0 genome.wustl.edu 37 17 3366054 3366054 + Silent SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 3366054 3366054 G T SNP SPATA22 ENST00000397168 human ensembl 74_37 -1 known silent c.180 p.A60 1.000 NULL NULL - no_errors SPATA22 HGNC ENSG00000141255 tier1 - - 66 0 0.00 47 26 35.62 108 0 0.00 52 20 27.78 LOC100127983 0 genome.wustl.edu 37 8 91973050 91973050 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 91973050 91973050 G A SNP LOC100127983 ENST00000517562 human ensembl 74_37 -1 putative silent c.250 p.L84 1.000 NULL NULL - no_errors RP11-122A3.2 Clone_based_vega_gene ENSG00000253250 tier1 - - 139 0 0.00 114 39 25.49 69 0 0.00 54 15 21.74 STARD9 0 genome.wustl.edu 37 15 42977276 42977276 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 42977276 42977276 G A SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.3500 p.R1167H 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 34 0 0.00 35 8 18.60 153 0 0.00 116 38 24.68 CASZ1 0 genome.wustl.edu 37 1 10703232 10703232 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 10703232 10703232 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.4005 p.R1335 0.107 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 106 0 0.00 50 14 21.88 20 0 0.00 12 3 20.00 BCHE 0 genome.wustl.edu 37 3 165547451 165547451 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 165547451 165547451 C T SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.1371 p.P457 0.995 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 68 0 0.00 47 17 26.56 101 0 0.00 70 22 23.91 SEPT12 0 genome.wustl.edu 37 16 4833438 4833438 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 4833438 4833438 C T SNP SEPT12 ENST00000587603 human ensembl 74_37 -1 known missense c.751 p.G251R 0.000 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pfam_Cell_div_FtsK/SpoIIIE,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 tier1 - - 69 0 0.00 31 19 38.00 85 0 0.00 40 45 52.94 EPHA7 0 genome.wustl.edu 37 6 93967917 93967917 + Silent SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 93967917 93967917 A G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known silent c.2010 p.G670 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 96 0 0.00 51 28 35.44 110 0 0.00 89 35 28.23 SNHG14 0 genome.wustl.edu 37 15 25334989 25334989 + R SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 25334989 25334989 G A SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 38 0 0.00 42 7 14.29 122 0 0.00 102 40 28.17 PPP1R16A 0 genome.wustl.edu 37 8 145722812 145722812 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 145722812 145722812 G A SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.235 p.A79T 0.998 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 tier1 - - 52 0 0.00 36 12 25.00 61 0 0.00 48 15 23.81 SMARCAL1 0 genome.wustl.edu 37 2 217315650 217315650 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 217315650 217315650 C T SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.1933 p.R645C 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 tier1 rs119473037 - 30 0 0.00 9 6 40.00 31 0 0.00 25 11 30.56 BDKRB1 0 genome.wustl.edu 37 14 96730713 96730713 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 14 96730713 96730713 C T SNP BDKRB1 ENST00000216629 human ensembl 74_37 +1 known missense c.694 p.R232W 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_1_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_1_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt - no_errors BDKRB1 HGNC ENSG00000100739 tier1 - - 38 0 0.00 19 13 40.62 48 0 0.00 30 22 42.31 URI1 0 genome.wustl.edu 37 19 30505904 30505904 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 30505904 30505904 G A SNP URI1 ENST00000542441 human ensembl 74_37 +1 known silent c.1536 p.L512 0.723 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 tier1 - - 59 0 0.00 46 10 17.86 139 1 0.71 86 42 32.31 RGSL1 0 genome.wustl.edu 37 1 182496778 182496778 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 182496778 182496778 C T SNP RGSL1 ENST00000294854 human ensembl 74_37 +1 known missense c.1996 p.R666W 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC ENSG00000121446 tier1 - - 74 0 0.00 75 19 20.21 110 0 0.00 56 25 30.86 PVR 0 genome.wustl.edu 37 19 45150757 45150757 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 45150757 45150757 C T SNP PVR ENST00000425690 human ensembl 74_37 +1 known silent c.342 p.R114 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVR HGNC ENSG00000073008 tier1 - - 41 0 0.00 32 12 27.27 67 0 0.00 77 24 23.76 TFAP4 0 genome.wustl.edu 37 16 4312668 4312668 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 4312668 4312668 G A SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.124 p.R42W 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 tier1 - - 26 0 0.00 12 5 29.41 35 0 0.00 23 5 17.86 MYT1L 0 genome.wustl.edu 37 2 1796148 1796148 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 1796148 1796148 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.3365 p.A1122V 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 24 0 0.00 25 11 30.56 89 0 0.00 62 35 36.08 CCDC116 0 genome.wustl.edu 37 22 21988606 21988606 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 22 21988606 21988606 G A SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.368 p.R123Q 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 tier1 - - 52 0 0.00 29 12 29.27 15 0 0.00 10 7 41.18 ARID3B 0 genome.wustl.edu 37 15 74883522 74883522 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 74883522 74883522 T C SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known silent c.912 p.C304 1.000 superfamily_ARID/BRIGHT_D-bd,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID3B HGNC ENSG00000179361 tier1 - - 63 0 0.00 57 16 21.62 60 0 0.00 39 21 35.00 DEDD 0 genome.wustl.edu 37 1 161093976 161093976 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 161093976 161093976 T C SNP DEDD ENST00000368005 human ensembl 74_37 -1 known missense c.277 p.T93A 1.000 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 tier1 - - 28 0 0.00 27 10 27.03 64 0 0.00 55 22 28.57 HMGCS2 0 genome.wustl.edu 37 1 120301801 120301801 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 120301801 120301801 G A SNP HMGCS2 ENST00000369406 human ensembl 74_37 -1 known missense c.790 p.R264W 0.932 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS2 HGNC ENSG00000134240 tier1 - - 66 0 0.00 57 19 25.00 97 0 0.00 59 24 28.92 PCYOX1 0 genome.wustl.edu 37 2 70486511 70486511 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 70486511 70486511 T C SNP PCYOX1 ENST00000433351 human ensembl 74_37 +1 known silent c.132 p.I44 0.997 pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 tier1 - - 88 0 0.00 81 21 20.59 97 0 0.00 95 25 20.66 C1orf27 0 genome.wustl.edu 37 1 186360840 186360840 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 186360840 186360840 C T SNP C1orf27 ENST00000287859 human ensembl 74_37 +1 known missense c.628 p.R210C 0.944 NULL NULL - no_errors C1orf27 HGNC ENSG00000157181 tier1 - - 94 0 0.00 90 37 29.13 96 0 0.00 80 25 23.81 BAI1 0 genome.wustl.edu 37 8 143562626 143562626 + Nonsense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 143562626 143562626 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known nonsense c.1840 p.R614* 0.995 smart_GPCR_2_extracellular_dom,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 tier1 - - 80 0 0.00 53 23 30.26 73 0 0.00 38 21 35.59 CELSR3 0 genome.wustl.edu 37 3 48688438 48688438 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 48688438 48688438 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.6257 p.S2086L 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 - - 44 0 0.00 17 10 37.04 26 0 0.00 16 5 23.81 MKNK2 0 genome.wustl.edu 37 19 2041986 2041986 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 2041986 2041986 G A SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known silent c.798 p.S266 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 tier1 - - 58 0 0.00 27 10 26.32 52 0 0.00 22 3 12.00 PRDM1 0 genome.wustl.edu 37 6 106552838 106552838 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 106552838 106552838 G A SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known missense c.803 p.R268H 0.002 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 tier1 - - 110 0 0.00 101 25 19.84 115 0 0.00 175 23 11.50 DAB1 0 genome.wustl.edu 37 1 57480999 57480999 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 57480999 57480999 G A SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.1100 p.P367L 0.991 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 tier1 - - 46 0 0.00 29 4 12.12 71 0 0.00 74 11 12.94 FAM83A-AS1 0 genome.wustl.edu 37 8 124214732 124214732 + R SNP T T G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 124214732 124214732 T G SNP FAM83A-AS1 ENST00000517519 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors FAM83A-AS1 HGNC ENSG00000204949 tier1 - - 89 0 0.00 76 22 22.45 109 1 0.91 80 20 20.00 PLA2G4F 0 genome.wustl.edu 37 15 42444923 42444923 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 42444923 42444923 C T SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known silent c.564 p.T188 0.006 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 tier1 - - 17 0 0.00 17 5 22.73 62 0 0.00 36 14 27.45 MRPS30 0 genome.wustl.edu 37 5 44811183 44811183 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 44811183 44811183 G A SNP MRPS30 ENST00000507110 human ensembl 74_37 +1 known missense c.674 p.R225Q 0.995 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 tier1 - - 137 0 0.00 119 49 29.17 119 0 0.00 78 26 25.00 OR4D10 0 genome.wustl.edu 37 11 59245410 59245410 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 59245410 59245410 G A SNP OR4D10 ENST00000530162 human ensembl 74_37 +1 known missense c.508 p.G170R 0.923 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 tier1 rs201321935 - 53 0 0.00 30 6 16.67 71 0 0.00 66 26 28.26 KIF14 0 genome.wustl.edu 37 1 200572974 200572974 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 200572974 200572974 C T SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.1856 p.R619Q 0.978 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 tier1 - - 67 0 0.00 39 29 42.65 65 0 0.00 55 33 37.50 MCM9 0 genome.wustl.edu 37 6 119136219 119136219 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 119136219 119136219 G A SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known missense c.3200 p.S1067L 0.013 NULL pfam_MCM_D-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_D-dep_ATPase,smart_AAA+_ATPase,prints_MCM_D-dep_ATPase,pfscan_MCM_D-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 tier1 - - 21 0 0.00 9 7 43.75 95 0 0.00 76 26 25.49 SLC52A2 0 genome.wustl.edu 37 8 145581176 145581176 + R SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 145581176 145581176 G A SNP SLC52A2 ENST00000532815 human ensembl 74_37 +1 known rna NULL NULL 0.939 - - - no_errors SLC52A2 HGNC ENSG00000185803 tier1 - - 22 0 0.00 14 8 36.36 129 0 0.00 98 48 32.88 FTCD 0 genome.wustl.edu 37 21 47556290 47556290 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 21 47556290 47556290 C T SNP FTCD ENST00000460011 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FTCD HGNC ENSG00000160282 tier1 - - 31 0 0.00 14 5 26.32 106 0 0.00 52 39 42.86 CPB1 0 genome.wustl.edu 37 3 148558511 148558511 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 148558511 148558511 A G SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known missense c.311 p.Q104R 1.000 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 tier1 - - 106 0 0.00 83 29 25.89 157 0 0.00 135 56 29.32 SLITRK6 0 genome.wustl.edu 37 13 86368334 86368334 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 13 86368334 86368334 T C SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known silent c.2310 p.G770 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 tier1 - - 44 0 0.00 23 7 23.33 129 0 0.00 87 25 22.32 FGD5 0 genome.wustl.edu 37 3 14949206 14949206 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 14949206 14949206 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known silent c.3324 p.L1108 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 tier1 - - 77 0 0.00 315 39 11.02 63 0 0.00 276 34 10.90 KCNC4 0 genome.wustl.edu 37 1 110765809 110765809 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 110765809 110765809 T C SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.902 p.V301A 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 tier1 - - 13 0 0.00 19 5 20.83 82 0 0.00 38 17 30.91 COPB2 0 genome.wustl.edu 37 3 139108396 139108396 + R SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 139108396 139108396 T C SNP COPB2 ENST00000510491 human ensembl 74_37 -1 known rna NULL NULL 0.960 - - - no_errors COPB2 HGNC ENSG00000184432 tier1 - - 252 0 0.00 154 67 30.32 108 1 0.92 81 22 21.15 NUP54 0 genome.wustl.edu 37 4 77065350 77065350 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 77065350 77065350 T C SNP NUP54 ENST00000264883 human ensembl 74_37 -1 known missense c.247 p.T83A 1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 tier1 - - 88 0 0.00 61 21 25.61 208 0 0.00 139 50 26.46 AHK2 0 genome.wustl.edu 37 14 105420418 105420418 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 14 105420418 105420418 C T SNP AHK2 ENST00000333244 human ensembl 74_37 -1 known missense c.1370 p.S457N 0.011 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK2 HGNC ENSG00000185567 tier1 - - 40 0 0.00 18 7 28.00 71 0 0.00 18 23 56.10 TNC 0 genome.wustl.edu 37 9 117825395 117825395 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 117825395 117825395 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.3834 p.T1278 0.520 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 rs150370072 - 33 0 0.00 30 11 26.83 169 1 0.59 126 42 24.85 SYNE2 0 genome.wustl.edu 37 14 64430701 64430701 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 14 64430701 64430701 T C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.973 p.Y325H 0.992 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 134 0 0.00 80 32 28.57 111 0 0.00 50 37 42.53 ARID3B 0 genome.wustl.edu 37 15 74883953 74883953 + Silent SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 74883953 74883953 C A SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known silent c.1218 p.P406 0.002 NULL pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID3B HGNC ENSG00000179361 tier1 - - 35 0 0.00 24 6 20.00 51 0 0.00 31 8 20.51 CDIPT 0 genome.wustl.edu 37 16 29872575 29872575 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 29872575 29872575 G A SNP CDIPT ENST00000219789 human ensembl 74_37 -1 known missense c.184 p.R62W 1.000 pfam_CDP-OH_P_trans,pirsf_CDP_diag_ino_3_P_euk pfam_CDP-OH_P_trans,pirsf_CDP_diag_ino_3_P_euk - no_errors CDIPT HGNC ENSG00000103502 tier1 rs150782987 - 79 0 0.00 41 11 21.15 101 0 0.00 109 19 14.84 OBSCN 0 genome.wustl.edu 37 1 228506748 228506748 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 228506748 228506748 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.14295 p.D4765 0.002 NULL 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 - - 37 0 0.00 22 8 26.67 10 0 0.00 14 7 33.33 AGAP11 0 genome.wustl.edu 37 10 88759697 88759697 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 88759697 88759697 C T SNP AGAP11 ENST00000444431 human ensembl 74_37 +1 known rna NULL NULL 0.475 - - - no_errors AGAP11 HGNC ENSG00000151303 tier1 - - 23 0 0.00 10 6 37.50 37 0 0.00 22 8 26.67 MAN2B2 0 genome.wustl.edu 37 4 6602448 6602448 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 6602448 6602448 G A SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.1504 p.V502I 0.891 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 tier1 rs186250763 GMAF=0.0005 40 0 0.00 18 13 41.94 48 0 0.00 46 18 28.12 KNG1 0 genome.wustl.edu 37 3 186450325 186450325 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 186450325 186450325 C T SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known silent c.792 p.C264 0.018 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 tier1 rs201943382 GMAF=0 61 0 0.00 54 14 20.59 161 0 0.00 134 41 23.30 CRHR2 0 genome.wustl.edu 37 7 30728894 30728894 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 30728894 30728894 C T SNP CRHR2 ENST00000348438 human ensembl 74_37 -1 known missense c.97 p.G33R 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors CRHR2 HGNC ENSG00000106113 tier1 - - 23 0 0.00 10 4 28.57 54 0 0.00 55 10 15.38 ABCA1 0 genome.wustl.edu 37 9 107581064 107581064 + Silent SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 107581064 107581064 G T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known silent c.3342 p.S1114 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 47 0 0.00 41 12 22.64 141 0 0.00 107 51 32.28 LRP1B 0 genome.wustl.edu 37 2 141201965 141201965 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 141201965 141201965 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10228 p.I3410V 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 79 0 0.00 57 20 25.97 171 0 0.00 97 35 26.52 MCM4 0 genome.wustl.edu 37 8 48878876 48878876 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 48878876 48878876 G A SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.962 p.R321H 1.000 superfamily_-bd_OB-fold,smart_MCM_D-dep_ATPase pfam_MCM_D-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_D-dep_ATPase,pfscan_MCM_D-dep_ATPase,prints_MCM_4,prints_MCM_D-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 tier1 - - 13 0 0.00 13 12 48.00 25 0 0.00 11 10 47.62 TLE1 0 genome.wustl.edu 37 9 84228347 84228347 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 84228347 84228347 G A SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known silent c.1008 p.G336 0.927 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 tier1 - - 62 0 0.00 45 21 31.82 70 0 0.00 44 27 38.03 KANK2 0 genome.wustl.edu 37 19 11280774 11280774 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 11280774 11280774 C T SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.2386 p.A796T 0.713 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 tier1 - - 32 0 0.00 26 5 16.13 21 0 0.00 10 6 37.50 POLR3E 0 genome.wustl.edu 37 16 22337274 22337274 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 22337274 22337274 C T SNP POLR3E ENST00000299853 human ensembl 74_37 +1 known missense c.1541 p.A514V 0.000 NULL pfam_R_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 tier1 - - 147 0 0.00 99 41 28.67 34 0 0.00 33 10 23.26 PDCD11 0 genome.wustl.edu 37 10 105172954 105172954 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 105172954 105172954 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.1060 p.R354C 0.005 superfamily_-bd_OB-fold pfam_Rbsml_prot_S1_R-bd_dom,pfam_Suf,superfamily_-bd_OB-fold,smart_R-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_R-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 tier1 - - 72 0 0.00 27 11 28.95 68 0 0.00 49 21 29.17 PDIA4 0 genome.wustl.edu 37 7 148701072 148701072 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 148701072 148701072 G A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known silent c.1752 p.D584 0.934 pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 tier1 - - 73 0 0.00 52 17 24.64 75 0 0.00 62 13 17.33 ITGA7 0 genome.wustl.edu 37 12 56091249 56091249 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 56091249 56091249 G A SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known silent c.1623 p.G541 0.001 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 tier1 - - 45 0 0.00 34 8 18.60 48 0 0.00 41 13 23.64 SAMHD1 0 genome.wustl.edu 37 20 35555586 35555586 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 35555586 35555586 G A SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known missense c.695 p.T232M 0.999 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 tier1 - - 74 0 0.00 59 17 22.37 81 0 0.00 66 32 32.65 GLRA1 0 genome.wustl.edu 37 5 151202325 151202325 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 151202325 151202325 C T SNP GLRA1 ENST00000455880 human ensembl 74_37 -1 known missense c.1283 p.R428H 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 tier1 - - 102 0 0.00 86 33 27.73 92 0 0.00 89 27 23.28 E4F1 0 genome.wustl.edu 37 16 2284933 2284933 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 2284933 2284933 G A SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known silent c.1866 p.T622 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 tier1 - - 25 0 0.00 14 8 34.78 30 0 0.00 34 9 20.93 HYKK 0 genome.wustl.edu 37 15 78805653 78805653 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 78805653 78805653 C T SNP HYKK ENST00000388988 human ensembl 74_37 +1 known missense c.223 p.P75S 0.001 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors HYKK HGNC ENSG00000188266 tier1 - - 96 0 0.00 63 20 24.10 128 0 0.00 98 31 24.03 FABP4 0 genome.wustl.edu 37 8 82395393 82395393 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 82395393 82395393 C T SNP FABP4 ENST00000256104 human ensembl 74_37 -1 known missense c.10 p.A4T 0.506 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP4 HGNC ENSG00000170323 tier1 - - 44 0 0.00 40 9 18.37 123 0 0.00 73 21 22.11 ATAD5 0 genome.wustl.edu 37 17 29182214 29182214 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 29182214 29182214 G A SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.2504 p.R835H 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 tier1 - - 48 0 0.00 28 12 30.00 112 0 0.00 62 25 28.74 HPS4 0 genome.wustl.edu 37 22 26860178 26860178 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 22 26860178 26860178 C T SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known missense c.1457 p.R486H 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 tier1 rs139039617 - 32 0 0.00 18 5 21.74 91 0 0.00 75 36 32.43 ZNF827 0 genome.wustl.edu 37 4 146686150 146686150 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 146686150 146686150 C T SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.3220 p.G1074S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 tier1 rs148875276 - 55 0 0.00 26 15 36.59 116 0 0.00 73 37 33.64 ZNF600 0 genome.wustl.edu 37 19 53269192 53269192 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 53269192 53269192 G A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.1817 p.A606V 0.955 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 132 0 0.00 97 45 31.69 46 0 0.00 51 16 23.53 SNRNP200 0 genome.wustl.edu 37 2 96970557 96970557 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 96970557 96970557 C T SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.95 p.R32H 1.000 NULL pfam_Sec63-dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 - - 69 0 0.00 59 35 36.84 101 0 0.00 86 41 32.28 SALL3 0 genome.wustl.edu 37 18 76757027 76757027 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 18 76757027 76757027 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.3608 p.R1203Q 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 64 0 0.00 65 11 14.47 108 0 0.00 83 33 28.21 YIF1A 0 genome.wustl.edu 37 11 66055130 66055130 + Nonsense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 66055130 66055130 G A SNP YIF1A ENST00000484814 human ensembl 74_37 -1 known nonsense c.154 p.Q52* 1.000 NULL NULL - no_errors YIF1A HGNC ENSG00000174851 tier1 - - 64 0 0.00 33 21 38.89 63 0 0.00 53 22 29.33 PDE4DIP 0 genome.wustl.edu 37 1 144890626 144890626 + R SNP G G C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 144890626 144890626 G C SNP PDE4DIP ENST00000467859 human ensembl 74_37 -1 known rna NULL NULL 0.801 - - - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 227 0 0.00 171 30 14.93 197 0 0.00 204 24 10.53 IGF2BP2 0 genome.wustl.edu 37 3 185407144 185407144 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 185407144 185407144 G A SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known missense c.676 p.R226W 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 tier1 - - 56 0 0.00 30 15 33.33 70 0 0.00 65 32 32.99 PKN1 0 genome.wustl.edu 37 19 14561159 14561159 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 14561159 14561159 C T SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known missense c.658 p.R220C 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 tier1 - - 83 0 0.00 44 25 36.23 15 0 0.00 14 9 39.13 SAFB2 0 genome.wustl.edu 37 19 5616451 5616451 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 5616451 5616451 G A SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known silent c.321 p.D107 0.410 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 tier1 - - 67 0 0.00 49 13 20.97 86 0 0.00 66 17 20.48 C2CD5 0 genome.wustl.edu 37 12 22677416 22677416 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 22677416 22677416 C T SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known silent c.591 p.S197 0.027 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 tier1 - - 71 0 0.00 48 15 23.81 88 0 0.00 70 23 24.73 SCAF8 0 genome.wustl.edu 37 6 155152087 155152087 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 155152087 155152087 G A SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known silent c.2370 p.P790 0.998 NULL pfam_R_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 tier1 rs138080868 - 59 0 0.00 47 20 29.85 133 0 0.00 86 28 24.56 PRAMEF12 0 genome.wustl.edu 37 1 12835688 12835688 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 12835688 12835688 G A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.290 p.R97Q 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 tier1 - - 102 0 0.00 75 37 33.04 158 0 0.00 99 43 30.28 MAN1A1 0 genome.wustl.edu 37 6 119509656 119509656 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 119509656 119509656 G A SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known missense c.1633 p.R545W 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 tier1 - - 73 0 0.00 59 19 24.36 124 0 0.00 102 35 25.55 CYP2A7 0 genome.wustl.edu 37 19 41387540 41387540 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 41387540 41387540 G A SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known silent c.297 p.S99 0.136 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 tier1 rs112051160 - 48 0 0.00 35 18 33.33 22 0 0.00 14 5 26.32 IGFN1 0 genome.wustl.edu 37 1 201174376 201174376 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 201174376 201174376 C T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known silent c.1083 p.D361 0.943 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 - - 49 0 0.00 29 12 29.27 37 0 0.00 27 12 30.77 LARP1 0 genome.wustl.edu 37 5 154193507 154193507 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 154193507 154193507 G A SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known missense c.2911 p.G971S 0.985 NULL pfam_Lupus_La_R-bd,smart_Lupus_La_R-bd,smart_DM15,pfscan_Lupus_La_R-bd - no_errors LARP1 HGNC ENSG00000155506 tier1 - - 110 0 0.00 71 17 19.32 29 0 0.00 23 7 23.33 CAC1I 0 genome.wustl.edu 37 22 40077043 40077043 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 22 40077043 40077043 C T SNP CAC1I ENST00000336649 human ensembl 74_37 +1 known missense c.5668 p.R1890C 0.840 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CAC1I HGNC ENSG00000100346 tier1 rs183581233 GMAF=0.0005 67 0 0.00 51 17 25.00 31 0 0.00 38 6 13.64 RYR2 0 genome.wustl.edu 37 1 237758894 237758894 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 237758894 237758894 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.4527 p.V1509 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 53 0 0.00 30 13 30.23 86 0 0.00 80 22 21.57 COPG1 0 genome.wustl.edu 37 3 128990636 128990636 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 128990636 128990636 C T SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known missense c.1870 p.R624C 0.023 pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 tier1 - - 55 0 0.00 38 28 42.42 71 0 0.00 65 28 29.79 KRTAP16-1 0 genome.wustl.edu 37 17 39464603 39464603 + Silent SNP A A T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 39464603 39464603 A T SNP KRTAP16-1 ENST00000391352 human ensembl 74_37 -1 known silent c.903 p.P301 0.503 NULL NULL - no_errors KRTAP16-1 HGNC ENSG00000212657 tier1 - - 34 0 0.00 6 8 57.14 65 0 0.00 43 24 35.82 DDX51 0 genome.wustl.edu 37 12 132625047 132625047 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 132625047 132625047 C T SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known missense c.1594 p.V532M 0.991 pfam_Helicase_C,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,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 tier1 - - 36 0 0.00 20 6 23.08 53 0 0.00 42 16 27.59 LRRC49 0 genome.wustl.edu 37 15 71341850 71341850 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 71341850 71341850 C T SNP LRRC49 ENST00000260382 human ensembl 74_37 +1 known missense c.1960 p.P654S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 tier1 - - 77 0 0.00 59 31 34.44 93 0 0.00 86 35 28.93 ALDOB 0 genome.wustl.edu 37 9 104187758 104187758 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 104187758 104187758 C T SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known missense c.776 p.R259H 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 tier1 - - 75 0 0.00 77 22 22.22 143 0 0.00 128 29 18.47 S100PBP 0 genome.wustl.edu 37 1 33292387 33292387 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 33292387 33292387 T C SNP S100PBP ENST00000373475 human ensembl 74_37 +1 known silent c.687 p.P229 0.131 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 tier1 - - 48 0 0.00 37 17 31.48 93 0 0.00 68 21 23.60 SNHG1 0 genome.wustl.edu 37 11 62622704 62622704 + R SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 62622704 62622704 C A SNP SNHG1 ENST00000539921 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG1 HGNC ENSG00000255717 tier1 - - 57 0 0.00 45 6 11.76 144 0 0.00 126 53 29.61 PCDHGB4 0 genome.wustl.edu 37 5 140769482 140769482 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 140769482 140769482 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known silent c.2031 p.P677 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 tier1 - - 21 0 0.00 14 8 36.36 12 0 0.00 19 6 24.00 WDR3 0 genome.wustl.edu 37 1 118499757 118499757 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 118499757 118499757 C T SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known silent c.2520 p.N840 0.111 pfam_SSU_processome_Utp12 pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 tier1 - - 65 0 0.00 46 20 30.30 104 0 0.00 76 27 26.21 DSP 0 genome.wustl.edu 37 6 7558370 7558370 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 7558370 7558370 A G SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.295 p.I99V 0.006 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 88 0 0.00 40 27 40.30 112 0 0.00 75 33 30.56 GBP6 0 genome.wustl.edu 37 1 89835160 89835160 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 89835160 89835160 C T SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known silent c.246 p.C82 0.997 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 tier1 - - 31 0 0.00 30 16 34.78 72 0 0.00 74 24 24.49 NLRC5 0 genome.wustl.edu 37 16 57059999 57059999 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 57059999 57059999 G A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.1144 p.A382T 0.001 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_CHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 tier1 rs200058658 GMAF=0.0005 35 0 0.00 13 6 31.58 67 0 0.00 20 29 59.18 KALRN 0 genome.wustl.edu 37 3 124281829 124281829 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 124281829 124281829 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5069 p.T1690I 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 59 0 0.00 28 8 22.22 25 0 0.00 22 11 33.33 SVOPL 0 genome.wustl.edu 37 7 138344683 138344683 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 138344683 138344683 C T SNP SVOPL ENST00000419765 human ensembl 74_37 -1 novel silent c.396 p.S132 0.767 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 tier1 - - 88 0 0.00 65 30 31.25 104 0 0.00 77 36 31.86 MYH9 0 genome.wustl.edu 37 22 36737437 36737437 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 22 36737437 36737437 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.468 p.T156 0.890 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 45 0 0.00 29 15 34.09 106 0 0.00 75 27 26.21 PLTP 0 genome.wustl.edu 37 20 44539885 44539885 + Nonsense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 44539885 44539885 G A SNP PLTP ENST00000542937 human ensembl 74_37 -1 known nonsense c.166 p.Q56* 1.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 tier1 - - 64 0 0.00 55 14 20.29 62 0 0.00 50 16 24.24 TET1 0 genome.wustl.edu 37 10 70405282 70405282 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 70405282 70405282 T C SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.2796 p.A932 0.001 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 64 0 0.00 27 23 46.00 83 0 0.00 83 16 16.16 PPFIA4 0 genome.wustl.edu 37 1 203014996 203014996 + Nonsense_Mutation SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 203014996 203014996 G T SNP PPFIA4 ENST00000414050 human ensembl 74_37 +1 known nonsense c.7 p.E3* 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 tier1 - - 37 0 0.00 23 9 28.12 92 0 0.00 46 24 34.29 RPTN 0 genome.wustl.edu 37 1 152129217 152129217 + Missense_Mutation SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 152129217 152129217 G T SNP RPTN ENST00000316073 human ensembl 74_37 -1 known missense c.358 p.Q120K 0.192 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 tier1 - - 95 0 0.00 76 20 20.83 150 1 0.66 91 51 35.92 MORC3 0 genome.wustl.edu 37 21 37741473 37741473 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 21 37741473 37741473 G A SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.1807 p.V603I 0.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 tier1 - - 61 0 0.00 20 13 39.39 150 0 0.00 74 37 33.33 KCNC3 0 genome.wustl.edu 37 19 50826791 50826791 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 50826791 50826791 G A SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known silent c.1419 p.G473 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 tier1 - - 49 0 0.00 25 5 16.67 58 1 1.69 58 28 32.18 ABCG8 0 genome.wustl.edu 37 2 44102440 44102440 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 44102440 44102440 C T SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known silent c.1644 p.A548 0.001 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 tier1 rs200018072 GMAF=0.0005 30 0 0.00 11 9 45.00 50 0 0.00 20 6 23.08 LOC63930 0 genome.wustl.edu 37 20 61711537 61711537 + R SNP C C G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 61711537 61711537 C G SNP LOC63930 ENST00000607802 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors RP11-305P22.9 Clone_based_vega_gene ENSG00000272259 tier1 - - 60 0 0.00 73 12 14.12 133 0 0.00 133 33 19.88 SGSM2 0 genome.wustl.edu 37 17 2268616 2268616 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 2268616 2268616 C T SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known silent c.1269 p.P423 0.021 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 tier1 - - 57 0 0.00 29 19 39.58 50 0 0.00 39 16 28.57 STON2 0 genome.wustl.edu 37 14 81743643 81743643 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 14 81743643 81743643 C T SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.2012 p.R671Q 0.998 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 tier1 - - 39 0 0.00 8 10 55.56 117 0 0.00 53 39 42.39 BRD9 0 genome.wustl.edu 37 5 887533 887533 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 887533 887533 G A SNP BRD9 ENST00000467963 human ensembl 74_37 -1 known silent c.660 p.T220 0.120 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 tier1 - - 43 0 0.00 16 11 40.74 94 0 0.00 54 24 30.77 SIGLEC7 0 genome.wustl.edu 37 19 51645979 51645979 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 51645979 51645979 C T SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known missense c.353 p.A118V 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 tier1 - - 81 0 0.00 46 18 28.12 44 0 0.00 47 11 18.97 PCM1 0 genome.wustl.edu 37 8 17849059 17849059 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 17849059 17849059 G A SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.4540 p.V1514M 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 tier1 - - 67 0 0.00 27 9 25.00 60 0 0.00 40 25 38.46 OVCH2 0 genome.wustl.edu 37 11 7712590 7712590 + Missense_Mutation SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 7712590 7712590 G T SNP OVCH2 ENST00000454689 human ensembl 74_37 -1 known missense c.1549 p.P517T 0.035 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 tier1 - - 31 0 0.00 25 9 26.47 102 0 0.00 69 23 25.00 LRP1B 0 genome.wustl.edu 37 2 141474275 141474275 + Missense_Mutation SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 141474275 141474275 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5869 p.G1957W 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 80 0 0.00 52 22 29.73 118 0 0.00 110 29 20.86 UGGT2 0 genome.wustl.edu 37 13 96622469 96622469 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 13 96622469 96622469 C T SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known missense c.1232 p.R411H 0.148 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 tier1 rs140859099 - 107 0 0.00 74 26 26.00 69 0 0.00 47 17 26.56 RXRG 0 genome.wustl.edu 37 1 165370516 165370516 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 165370516 165370516 G A SNP RXRG ENST00000359842 human ensembl 74_37 -1 known missense c.1376 p.P459L 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 tier1 - - 117 0 0.00 62 25 28.74 31 0 0.00 17 11 39.29 LRP8 0 genome.wustl.edu 37 1 53724100 53724100 + Silent SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 53724100 53724100 A G SNP LRP8 ENST00000306052 human ensembl 74_37 -1 known silent c.2100 p.C700 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 tier1 - - 25 0 0.00 10 11 52.38 36 0 0.00 44 12 21.43 DIXDC1 0 genome.wustl.edu 37 11 111808168 111808168 + R SNP A A C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 111808168 111808168 A C SNP DIXDC1 ENST00000389821 human ensembl 74_37 +1 known rna NULL NULL 0.085 - - - no_errors DIXDC1 HGNC ENSG00000150764 tier1 - - 25 0 0.00 14 5 26.32 13 0 0.00 19 3 13.64 DHX37 0 genome.wustl.edu 37 12 125461958 125461958 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 125461958 125461958 C T SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.817 p.V273M 0.976 pfam_D/R_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 tier1 - - 42 0 0.00 27 9 25.00 60 0 0.00 49 12 19.35 PAPD4 0 genome.wustl.edu 37 5 78944893 78944893 + Nonsense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 78944893 78944893 C T SNP PAPD4 ENST00000296783 human ensembl 74_37 +1 known nonsense c.907 p.R303* 1.000 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 tier1 - - 82 0 0.00 62 28 30.43 99 1 1.00 77 23 23.00 PLX1 0 genome.wustl.edu 37 3 126748378 126748378 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 126748378 126748378 C T SNP PLX1 ENST00000393409 human ensembl 74_37 +1 known silent c.4869 p.Y1623 0.967 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLX1 HGNC ENSG00000114554 tier1 - - 51 0 0.00 44 11 20.00 80 0 0.00 56 16 22.22 KCNQ2 0 genome.wustl.edu 37 20 62046292 62046292 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 62046292 62046292 G A SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.1405 p.R469C 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 tier1 - - 86 0 0.00 32 18 36.00 33 0 0.00 14 7 33.33 BTRC 0 genome.wustl.edu 37 10 103291028 103291028 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 103291028 103291028 G A SNP BTRC ENST00000370187 human ensembl 74_37 +1 known missense c.778 p.G260R 1.000 superfamily_F-box_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,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 BTRC HGNC ENSG00000166167 tier1 - - 92 0 0.00 91 27 22.88 120 0 0.00 84 40 32.26 CDHR5 0 genome.wustl.edu 37 11 619384 619384 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 619384 619384 C T SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known missense c.1300 p.A434T 0.533 superfamily_Cadherin-like,pfscan_Cadherin superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 tier1 - - 70 0 0.00 80 17 17.53 82 0 0.00 65 23 26.14 POTEF 0 genome.wustl.edu 37 2 130877846 130877846 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 130877846 130877846 G A SNP POTEF ENST00000357462 human ensembl 74_37 -1 known silent c.243 p.G81 0.002 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 tier1 - - 143 0 0.00 82 23 21.70 25 0 0.00 17 5 22.73 TMPRSS7 0 genome.wustl.edu 37 3 111769565 111769565 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 111769565 111769565 A G SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known missense c.760 p.K254E 1.000 pfam_CUB_dom,superfamily_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 tier1 - - 102 0 0.00 67 28 29.47 122 0 0.00 101 39 27.86 FAM124A 0 genome.wustl.edu 37 13 51825713 51825713 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 13 51825713 51825713 G A SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known silent c.318 p.A106 0.029 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 tier1 - - 21 0 0.00 22 4 15.38 28 0 0.00 20 7 25.93 MR1 0 genome.wustl.edu 37 1 181018220 181018220 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 181018220 181018220 G A SNP MR1 ENST00000367580 human ensembl 74_37 +1 known missense c.100 p.V34I 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 tier1 - - 58 0 0.00 40 15 27.27 32 0 0.00 27 14 34.15 EPC1 0 genome.wustl.edu 37 10 32580192 32580192 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 32580192 32580192 G A SNP EPC1 ENST00000263062 human ensembl 74_37 -1 known missense c.874 p.P292S 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 tier1 - - 132 0 0.00 54 38 41.30 60 1 1.64 39 20 33.90 ARHGEF2 0 genome.wustl.edu 37 1 155931509 155931509 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 155931509 155931509 G A SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.1414 p.R472C 0.992 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 tier1 - - 34 0 0.00 20 8 28.57 42 0 0.00 38 11 22.45 GBF1 0 genome.wustl.edu 37 10 104126938 104126938 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 104126938 104126938 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.2527 p.R843C 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 tier1 - - 47 0 0.00 27 7 20.00 147 0 0.00 137 37 21.26 AMPD1 0 genome.wustl.edu 37 1 115226834 115226834 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 115226834 115226834 T C SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.632 p.E211G 0.997 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 tier1 - - 121 0 0.00 82 24 22.64 130 0 0.00 78 32 29.09 ARPC1B 0 genome.wustl.edu 37 7 98988806 98988806 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 98988806 98988806 C T SNP ARPC1B ENST00000252725 human ensembl 74_37 +1 known missense c.713 p.A238V 0.794 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1B HGNC ENSG00000130429 tier1 - - 26 0 0.00 27 4 12.90 59 0 0.00 55 14 20.29 KIAA1429 0 genome.wustl.edu 37 8 95504027 95504027 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 95504027 95504027 C T SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.4919 p.R1640H 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 tier1 - - 115 0 0.00 96 41 29.93 74 0 0.00 46 19 29.23 ACAN 0 genome.wustl.edu 37 15 89391218 89391218 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 89391218 89391218 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.1681 p.R561C 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 43 0 0.00 27 12 30.77 49 0 0.00 57 15 20.83 FMOD 0 genome.wustl.edu 37 1 203316599 203316599 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 203316599 203316599 G A SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.800 p.A267V 0.002 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 tier1 - - 57 0 0.00 50 23 31.51 94 0 0.00 90 58 39.19 TPGS1 0 genome.wustl.edu 37 19 507660 507660 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 507660 507660 C T SNP TPGS1 ENST00000359315 human ensembl 74_37 +1 known silent c.154 p.L52 1.000 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors TPGS1 HGNC ENSG00000141933 tier1 - - 34 0 0.00 23 7 23.33 17 0 0.00 14 4 22.22 ENSG00000226145 0 genome.wustl.edu 37 17 16725746 16725746 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 16725746 16725746 C T SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 tier1 - - 137 0 0.00 55 29 34.52 22 0 0.00 11 4 26.67 KIAA1211 0 genome.wustl.edu 37 4 57164406 57164406 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 57164406 57164406 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.11 p.R4Q 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 124 0 0.00 102 43 29.66 118 0 0.00 83 19 18.63 MAP3K6 0 genome.wustl.edu 37 1 27690425 27690425 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 27690425 27690425 A G SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known missense c.847 p.S283P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 tier1 - - 59 0 0.00 36 21 36.84 64 0 0.00 38 15 28.30 CD244 0 genome.wustl.edu 37 1 160811420 160811420 + Silent SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 160811420 160811420 A G SNP CD244 ENST00000368033 human ensembl 74_37 -1 known silent c.333 p.S111 0.000 pfam_NK_rcpt_2B4_Ig_dom pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom - no_errors CD244 HGNC ENSG00000122223 tier1 - - 62 0 0.00 27 16 37.21 94 0 0.00 110 24 17.78 I 0 genome.wustl.edu 37 10 105048132 105048132 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 105048132 105048132 C T SNP I ENST00000369849 human ensembl 74_37 +1 known silent c.1206 p.G402 0.211 pfam_IF pfam_IF,pfam_Intermed_filament_D-bd,superfamily_Prefoldin - no_errors I HGNC ENSG00000148798 tier1 - - 115 0 0.00 93 29 23.77 95 0 0.00 87 17 16.35 UBXN6 0 genome.wustl.edu 37 19 4446615 4446615 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 4446615 4446615 C T SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.802 p.A268T 0.952 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 tier1 rs151060057 - 20 0 0.00 11 7 38.89 4 0 0.00 14 2 12.50 RYR2 0 genome.wustl.edu 37 1 237919660 237919660 + Missense_Mutation SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 237919660 237919660 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.11236 p.V3746L 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 46 0 0.00 35 9 20.45 99 0 0.00 68 25 26.88 RICTOR 0 genome.wustl.edu 37 5 38996934 38996934 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 38996934 38996934 C T SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.443 p.R148Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 80 0 0.00 51 23 31.08 97 0 0.00 74 25 25.25 ARMC3 0 genome.wustl.edu 37 10 23287301 23287301 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 23287301 23287301 C T SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.1400 p.A467V 0.675 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 tier1 - - 12 0 0.00 5 5 50.00 39 0 0.00 22 15 40.54 SLC25A44 0 genome.wustl.edu 37 1 156180795 156180795 + R SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 156180795 156180795 G A SNP SLC25A44 ENST00000469537 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A44 HGNC ENSG00000160785 tier1 - - 20 0 0.00 12 4 25.00 70 0 0.00 61 18 22.78 KMT2D 0 genome.wustl.edu 37 12 49416528 49416528 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 49416528 49416528 A G SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.16183 p.W5395R 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 57 0 0.00 47 19 28.79 71 0 0.00 72 15 17.24 UBL3 0 genome.wustl.edu 37 13 30341763 30341763 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 13 30341763 30341763 T C SNP UBL3 ENST00000380680 human ensembl 74_37 -1 known missense c.293 p.N98S 1.000 pirsf_M-anchored_Ub-fold_HCG-1 pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup - no_errors UBL3 HGNC ENSG00000122042 tier1 - - 61 0 0.00 49 11 18.33 158 0 0.00 135 38 21.97 FGD5 0 genome.wustl.edu 37 3 14949168 14949168 + Missense_Mutation SNP C C G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 14949168 14949168 C G SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3286 p.H1096D 1.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 tier1 - - 98 0 0.00 372 57 13.26 79 0 0.00 323 42 11.48 KIAA1958 0 genome.wustl.edu 37 9 115380914 115380914 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 115380914 115380914 C T SNP KIAA1958 ENST00000374244 human ensembl 74_37 +1 known silent c.1935 p.V645 0.000 pfam_DUF3504 pfam_DUF3504 - no_errors KIAA1958 HGNC ENSG00000165185 tier1 - - 40 0 0.00 28 13 31.71 97 0 0.00 50 15 23.08 LOC100128374 0 genome.wustl.edu 37 7 1885976 1885976 + R SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 1885976 1885976 G A SNP LOC100128374 ENST00000480694 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC110781.3 Clone_based_vega_gene ENSG00000176349 tier1 - - 67 0 0.00 32 15 31.91 75 0 0.00 54 23 29.87 UMPS 0 genome.wustl.edu 37 3 124458975 124458975 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 124458975 124458975 C T SNP UMPS ENST00000232607 human ensembl 74_37 +1 known missense c.1087 p.R363W 0.998 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC ENSG00000114491 tier1 - - 35 0 0.00 35 16 31.37 65 0 0.00 85 20 19.05 COG8 0 genome.wustl.edu 37 16 69354328 69354328 + R SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 69354328 69354328 G A SNP COG8 ENST00000564419 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors COG8 HGNC ENSG00000213380 tier1 - - 20 0 0.00 12 4 23.53 64 0 0.00 14 20 58.82 OTUD7A 0 genome.wustl.edu 37 15 31819495 31819495 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 31819495 31819495 G A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known silent c.669 p.H223 0.522 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 tier1 - - 45 0 0.00 29 12 29.27 90 0 0.00 97 31 24.22 VPS18 0 genome.wustl.edu 37 15 41191385 41191385 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 41191385 41191385 C T SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known silent c.369 p.Y123 0.899 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 tier1 - - 38 0 0.00 37 7 15.91 60 0 0.00 62 18 22.50 TTN 0 genome.wustl.edu 37 2 179469795 179469795 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 179469795 179469795 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46405 p.R15469W 0.829 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 rs201623791 - 35 0 0.00 27 8 22.86 210 1 0.47 170 47 21.56 AHR 0 genome.wustl.edu 37 7 17369626 17369626 + Silent SNP A A C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 17369626 17369626 A C SNP AHR ENST00000242057 human ensembl 74_37 +1 known silent c.501 p.R167 0.838 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors AHR HGNC ENSG00000106546 tier1 - - 54 0 0.00 52 15 22.39 89 0 0.00 54 9 14.29 SLC38A1 0 genome.wustl.edu 37 12 46601385 46601385 + Missense_Mutation SNP C C G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 46601385 46601385 C G SNP SLC38A1 ENST00000398637 human ensembl 74_37 -1 known missense c.408 p.K136N 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 tier1 - - 85 0 0.00 57 31 35.23 115 0 0.00 90 41 31.30 USP47 0 genome.wustl.edu 37 11 11969622 11969622 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 11969622 11969622 C T SNP USP47 ENST00000399455 human ensembl 74_37 +1 known silent c.3282 p.S1094 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 tier1 - - 67 0 0.00 44 20 30.77 110 0 0.00 81 26 24.30 MGAT4C 0 genome.wustl.edu 37 12 86374058 86374058 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 86374058 86374058 C T SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.533 p.R178H 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 tier1 - - 41 0 0.00 21 12 36.36 84 0 0.00 77 11 12.50 MAP3K13 0 genome.wustl.edu 37 3 185181425 185181425 + Missense_Mutation SNP C C G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 185181425 185181425 C G SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known missense c.1366 p.R456G 0.999 pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 tier1 - - 72 0 0.00 69 19 21.59 103 0 0.00 79 24 23.30 SRP54 0 genome.wustl.edu 37 14 35480757 35480757 + Silent SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 14 35480757 35480757 A G SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known silent c.528 p.V176 1.000 pfam_SRP54_GTPase_dom,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 tier1 - - 55 0 0.00 24 12 33.33 27 0 0.00 26 19 42.22 ALMS1P 0 genome.wustl.edu 37 2 73912108 73912108 + R SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 73912108 73912108 T C SNP ALMS1P ENST00000450720 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors ALMS1P HGNC ENSG00000163016 tier1 - - 168 1 0.59 133 24 15.29 139 0 0.00 128 28 17.83 CCT3 0 genome.wustl.edu 37 1 156280431 156280431 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 156280431 156280431 G A SNP CCT3 ENST00000295688 human ensembl 74_37 -1 known missense c.1451 p.T484M 0.975 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 tier1 - - 83 0 0.00 58 23 28.40 123 0 0.00 119 33 21.71 AP5S1 0 genome.wustl.edu 37 20 3804825 3804825 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 3804825 3804825 C T SNP AP5S1 ENST00000246041 human ensembl 74_37 +1 known missense c.484 p.R162W 0.988 NULL NULL - no_errors AP5S1 HGNC ENSG00000125843 tier1 - - 49 0 0.00 32 12 27.27 24 0 0.00 10 4 28.57 CAC1B 0 genome.wustl.edu 37 9 140865850 140865850 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 140865850 140865850 G A SNP CAC1B ENST00000371355 human ensembl 74_37 +1 known missense c.1352 p.R451H 0.999 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CAC1B HGNC ENSG00000148408 tier1 - - 115 0 0.00 49 27 35.53 87 0 0.00 37 26 41.27 HIST1H2BO 0 genome.wustl.edu 37 6 27861357 27861357 + Silent SNP T T A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 27861357 27861357 T A SNP HIST1H2BO ENST00000303806 human ensembl 74_37 +1 known silent c.117 p.S39 0.001 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BO HGNC ENSG00000196331 tier1 - - 100 0 0.00 49 29 37.18 13 0 0.00 14 6 30.00 HMCN1 0 genome.wustl.edu 37 1 186147733 186147733 + Missense_Mutation SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 186147733 186147733 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16129 p.P5377T 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 41 0 0.00 32 10 23.81 120 1 0.82 82 38 31.67 RPN2 0 genome.wustl.edu 37 20 35858442 35858442 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 35858442 35858442 A G SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.1561 p.T521A 1.000 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 tier1 - - 63 0 0.00 64 17 20.99 135 0 0.00 73 30 29.13 LACTBL1 0 genome.wustl.edu 37 1 23286554 23286554 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 23286554 23286554 G A SNP LACTBL1 ENST00000426928 human ensembl 74_37 -1 putative silent c.198 p.G66 1.000 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTBL1 HGNC ENSG00000215906 tier1 - - 48 0 0.00 32 4 11.11 32 0 0.00 36 7 15.56 KIFAP3 0 genome.wustl.edu 37 1 170024465 170024465 + Nonsense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 170024465 170024465 G A SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known nonsense c.145 p.R49* 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 tier1 - - 93 0 0.00 80 11 12.09 90 0 0.00 77 16 17.02 FRYL 0 genome.wustl.edu 37 4 48569313 48569313 + Nonsense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 48569313 48569313 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known nonsense c.3121 p.R1041* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 83 0 0.00 84 28 25.00 96 0 0.00 73 25 25.51 CCDC42 0 genome.wustl.edu 37 17 8638826 8638826 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 8638826 8638826 G A SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.596 p.A199V 1.000 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 tier1 - - 23 0 0.00 6 7 53.85 27 0 0.00 21 10 32.26 DSCC1 0 genome.wustl.edu 37 8 120862621 120862621 + Splice_Site SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 120862621 120862621 C T SNP DSCC1 ENST00000313655 human ensembl 74_37 -1 known splice_site c.486+1 e3+1 1.000 - - - no_errors DSCC1 HGNC ENSG00000136982 tier1 - - 103 0 0.00 108 39 26.35 76 0 0.00 81 15 15.62 ZNF225 0 genome.wustl.edu 37 19 44636829 44636829 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 44636829 44636829 C T SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.2062 p.R688C 0.123 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF225 HGNC ENSG00000256294 tier1 - - 69 0 0.00 54 17 23.94 68 0 0.00 66 26 28.26 TFAP4 0 genome.wustl.edu 37 16 4308077 4308077 + Silent SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 4308077 4308077 C A SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known silent c.996 p.S332 0.004 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 tier1 - - 62 0 0.00 36 12 25.00 8 0 0.00 11 2 15.38 PALM2-AKAP2 0 genome.wustl.edu 37 9 112900711 112900711 + Silent SNP A A C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 112900711 112900711 A C SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known silent c.2887 p.R963 0.995 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 - - 66 0 0.00 42 15 26.32 84 0 0.00 57 28 32.94 RBM17 0 genome.wustl.edu 37 10 6157416 6157416 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 6157416 6157416 C T SNP RBM17 ENST00000379888 human ensembl 74_37 +1 known missense c.1103 p.A368V 1.000 smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45 pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom - no_errors RBM17 HGNC ENSG00000134453 tier1 - - 82 0 0.00 52 25 32.47 147 0 0.00 95 38 28.36 MYO7A 0 genome.wustl.edu 37 11 76901827 76901827 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 76901827 76901827 C T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.3836 p.T1279M 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 tier1 - - 32 0 0.00 29 11 27.50 58 0 0.00 47 22 31.88 UNC5B 0 genome.wustl.edu 37 10 73046509 73046509 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 73046509 73046509 A G SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.616 p.I206V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 tier1 - - 54 0 0.00 39 13 25.00 112 0 0.00 103 31 23.13 C9orf9 0 genome.wustl.edu 37 9 135763753 135763753 + Missense_Mutation SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 135763753 135763753 C A SNP C9orf9 ENST00000356311 human ensembl 74_37 +1 known missense c.424 p.P142T 1.000 NULL NULL - no_errors C9orf9 HGNC ENSG00000165698 tier1 - - 90 0 0.00 43 14 24.56 40 0 0.00 14 7 33.33 SYNCRIP 0 genome.wustl.edu 37 6 86329023 86329023 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 86329023 86329023 G A SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.1121 p.A374V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 tier1 - - 58 0 0.00 35 13 26.53 54 0 0.00 24 11 31.43 INSL4 0 genome.wustl.edu 37 9 5233699 5233699 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 5233699 5233699 C T SNP INSL4 ENST00000239316 human ensembl 74_37 +1 known missense c.242 p.T81M 0.000 superfamily_Insulin-like,prints_Relaxin superfamily_Insulin-like,prints_Placentin,prints_Relaxin - no_errors INSL4 HGNC ENSG00000120211 tier1 rs150771132 - 87 0 0.00 42 41 49.40 134 1 0.74 64 39 37.86 PTPRB 0 genome.wustl.edu 37 12 70956827 70956827 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 70956827 70956827 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.3965 p.R1322H 0.981 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 - - 46 0 0.00 36 14 28.00 95 0 0.00 97 21 17.80 ZMYND11 0 genome.wustl.edu 37 10 226045 226045 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 226045 226045 T C SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known silent c.93 p.I31 1.000 NULL pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 tier1 - - 106 0 0.00 51 19 27.14 111 0 0.00 57 17 22.97 SH2D3A 0 genome.wustl.edu 37 19 6760806 6760806 + Missense_Mutation SNP T T A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 6760806 6760806 T A SNP SH2D3A ENST00000245908 human ensembl 74_37 -1 known missense c.262 p.I88L 0.790 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 tier1 - - 58 0 0.00 44 16 26.67 71 0 0.00 70 27 27.84 MYO15B 0 genome.wustl.edu 37 17 73620669 73620669 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 73620669 73620669 C T SNP MYO15B ENST00000577948 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MYO15B HGNC ENSG00000266714 tier1 - - 16 0 0.00 16 5 23.81 103 0 0.00 89 34 27.64 ZNF268 0 genome.wustl.edu 37 12 133779442 133779442 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 133779442 133779442 T C SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known silent c.1170 p.C390 0.057 smart_Znf_C2H2-like,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 ZNF268 HGNC ENSG00000090612 tier1 - - 57 0 0.00 43 13 23.21 170 0 0.00 123 52 29.71 POM121 0 genome.wustl.edu 37 7 72418883 72418883 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 72418883 72418883 C T SNP POM121 ENST00000395270 human ensembl 74_37 +1 known silent c.2874 p.H958 0.001 NULL NULL - no_errors POM121 HGNC ENSG00000196313 tier1 - - 48 0 0.00 52 15 22.39 40 0 0.00 51 9 15.00 C1orf43 0 genome.wustl.edu 37 1 154179927 154179927 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 154179927 154179927 C T SNP C1orf43 ENST00000483282 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf43 HGNC ENSG00000143612 tier1 - - 62 0 0.00 56 14 20.00 71 0 0.00 77 20 20.62 IGSF11 0 genome.wustl.edu 37 3 118621566 118621566 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 118621566 118621566 G A SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known missense c.1097 p.P366L 0.995 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 tier1 - - 37 0 0.00 34 11 24.44 96 0 0.00 60 18 23.08 TPSG1 0 genome.wustl.edu 37 16 1271958 1271958 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 1271958 1271958 G A SNP TPSG1 ENST00000234798 human ensembl 74_37 -1 known missense c.796 p.R266C 0.030 superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSG1 HGNC ENSG00000116176 tier1 rs146886017 - 27 0 0.00 11 6 35.29 32 0 0.00 29 17 36.96 ZNF672 0 genome.wustl.edu 37 1 249142625 249142625 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 249142625 249142625 G A SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known silent c.1152 p.L384 0.050 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 tier1 - - 63 0 0.00 34 20 37.04 6 0 0.00 10 2 16.67 OR7G3 0 genome.wustl.edu 37 19 9237062 9237062 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 9237062 9237062 A G SNP OR7G3 ENST00000305444 human ensembl 74_37 -1 known missense c.565 p.C189R 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G3 HGNC ENSG00000170920 tier1 - - 48 0 0.00 29 12 29.27 88 0 0.00 72 22 23.40 EHMT2 0 genome.wustl.edu 37 6 31856193 31856193 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 6 31856193 31856193 C T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.1627 p.A543T 0.895 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 tier1 - - 41 0 0.00 19 16 45.71 12 0 0.00 10 8 44.44 TKTL2 0 genome.wustl.edu 37 4 164394067 164394067 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 164394067 164394067 T C SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.820 p.I274V 0.000 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 tier1 - - 26 0 0.00 11 8 42.11 71 0 0.00 27 20 42.55 DPYD 0 genome.wustl.edu 37 1 98293695 98293695 + Nonsense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 98293695 98293695 G A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known nonsense c.208 p.R70* 1.000 superfamily_Helical_ferredxn pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_tR_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 rs141597515 - 43 0 0.00 19 7 26.92 58 0 0.00 36 16 30.77 TFAP4 0 genome.wustl.edu 37 16 4308095 4308095 + Missense_Mutation SNP C C G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 4308095 4308095 C G SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.978 p.Q326H 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 tier1 - - 54 0 0.00 26 10 27.78 8 0 0.00 10 2 16.67 IFNW1 0 genome.wustl.edu 37 9 21141119 21141119 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 21141119 21141119 G A SNP IFNW1 ENST00000380229 human ensembl 74_37 -1 known missense c.451 p.R151C 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNW1 HGNC ENSG00000177047 tier1 rs141528866 - 39 0 0.00 18 8 30.77 60 0 0.00 36 16 30.77 DTX1 0 genome.wustl.edu 37 12 113515459 113515459 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 113515459 113515459 C T SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.490 p.R164C 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 tier1 - - 41 0 0.00 22 9 29.03 15 0 0.00 12 5 29.41 PDSS1 0 genome.wustl.edu 37 10 27031457 27031457 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 27031457 27031457 G A SNP PDSS1 ENST00000376215 human ensembl 74_37 +1 known missense c.1058 p.R353Q 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC ENSG00000148459 tier1 - - 45 0 0.00 23 7 23.33 35 0 0.00 15 5 25.00 LRRK1 0 genome.wustl.edu 37 15 101464888 101464888 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 101464888 101464888 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.51 p.P17 0.622 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 77 0 0.00 48 12 20.00 68 0 0.00 58 20 25.64 ZNF623 0 genome.wustl.edu 37 8 144732482 144732482 + Missense_Mutation SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 8 144732482 144732482 G T SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known missense c.440 p.G147V 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 tier1 - - 15 0 0.00 17 8 32.00 145 1 0.68 126 42 25.00 DLEC1 0 genome.wustl.edu 37 3 38136528 38136528 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 38136528 38136528 A G SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.2078 p.D693G 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 21 0 0.00 7 8 53.33 75 0 0.00 31 23 42.59 ZMYND8 0 genome.wustl.edu 37 20 45910883 45910883 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 45910883 45910883 C T SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.982 p.G328R 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 tier1 - - 75 0 0.00 52 27 34.18 136 0 0.00 109 40 26.85 TELO2 0 genome.wustl.edu 37 16 1547054 1547054 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 1547054 1547054 G A SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.631 p.V211M 0.791 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 tier1 - - 40 0 0.00 36 7 16.28 85 0 0.00 79 21 20.79 ALDH4A1 0 genome.wustl.edu 37 1 19209672 19209672 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 19209672 19209672 C T SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known silent c.624 p.S208 0.030 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 tier1 rs142063145 - 94 0 0.00 59 13 17.57 32 0 0.00 29 5 14.71 RB1 0 genome.wustl.edu 37 13 48947629 48947629 + Splice_Site SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 13 48947629 48947629 G A SNP RB1 ENST00000267163 human ensembl 74_37 +1 known splice_site c.1215+1 e12+1 1.000 - - - no_errors RB1 HGNC ENSG00000139687 tier1 - - 27 0 0.00 24 15 38.46 57 0 0.00 30 21 41.18 ZNF835 0 genome.wustl.edu 37 19 57175104 57175104 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 57175104 57175104 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1463 p.A488V 0.280 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 tier1 - - 26 0 0.00 26 10 27.78 28 0 0.00 16 4 20.00 KIF9-AS1 0 genome.wustl.edu 37 3 47281289 47281289 + R SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 47281289 47281289 A G SNP KIF9-AS1 ENST00000429315 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIF9-AS1 HGNC ENSG00000227398 tier1 - - 69 0 0.00 33 13 28.26 120 0 0.00 61 23 27.38 TSC2 0 genome.wustl.edu 37 16 2126103 2126103 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 2126103 2126103 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.2674 p.V892I 1.000 pfam_Tuberin-type_domain,prints_Tuberin pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 - - 60 0 0.00 60 18 23.08 129 1 0.77 101 20 16.53 GPCPD1 0 genome.wustl.edu 37 20 5564938 5564938 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 5564938 5564938 A G SNP GPCPD1 ENST00000379019 human ensembl 74_37 -1 known missense c.338 p.F113S 1.000 superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 - no_errors GPCPD1 HGNC ENSG00000125772 tier1 - - 128 0 0.00 68 39 36.45 74 0 0.00 35 27 43.55 ZNF610 0 genome.wustl.edu 37 19 52856965 52856965 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 52856965 52856965 G A SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.94 p.E32K 0.891 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF610 HGNC ENSG00000167554 tier1 - - 117 0 0.00 86 25 22.52 65 0 0.00 53 12 18.46 PRLHR 0 genome.wustl.edu 37 10 120353718 120353718 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 120353718 120353718 G A SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.1039 p.R347C 0.995 pfam_7TM_GPCR_olfarory/Srsx,prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 tier1 - - 39 0 0.00 27 9 25.00 42 0 0.00 26 14 35.00 LENG8 0 genome.wustl.edu 37 19 54967838 54967838 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 54967838 54967838 G A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.1469 p.R490H 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 tier1 - - 65 0 0.00 54 17 23.94 11 0 0.00 17 3 15.00 LOC100190940 0 genome.wustl.edu 37 12 130521541 130521541 + R SNP G G T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 130521541 130521541 G T SNP LOC100190940 ENST00000291374 human ensembl 74_37 -1 known rna NULL NULL 0.142 - - - no_errors RP11-474D1.3 Clone_based_vega_gene ENSG00000214039 tier1 - - 17 0 0.00 8 6 42.86 68 0 0.00 67 27 28.72 GRK7 0 genome.wustl.edu 37 3 141499460 141499460 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 141499460 141499460 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.857 p.R286H 0.070 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 tier1 - - 26 0 0.00 21 11 34.38 84 0 0.00 53 20 27.03 RFPL1 0 genome.wustl.edu 37 22 29837909 29837909 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 22 29837909 29837909 T C SNP RFPL1 ENST00000354373 human ensembl 74_37 +1 known missense c.752 p.M251T 0.857 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL1 HGNC ENSG00000128250 tier1 - - 146 0 0.00 117 37 23.87 124 0 0.00 95 39 29.10 FOXJ3 0 genome.wustl.edu 37 1 42657144 42657144 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 42657144 42657144 G A SNP FOXJ3 ENST00000361346 human ensembl 74_37 -1 known missense c.1181 p.P394L 0.981 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 tier1 - - 48 0 0.00 39 25 38.46 72 0 0.00 59 19 24.36 C11orf57 0 genome.wustl.edu 37 11 111952739 111952739 + Silent SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 111952739 111952739 T C SNP C11orf57 ENST00000393047 human ensembl 74_37 +1 known silent c.354 p.P118 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 tier1 - - 66 0 0.00 26 19 42.22 112 0 0.00 68 31 31.31 TSSC4 0 genome.wustl.edu 37 11 2423909 2423909 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 2423909 2423909 G A SNP TSSC4 ENST00000333256 human ensembl 74_37 +1 known missense c.46 p.E16K 0.000 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 tier1 - - 53 0 0.00 34 9 20.93 40 0 0.00 36 9 20.00 ANKRD13A 0 genome.wustl.edu 37 12 110474119 110474119 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 110474119 110474119 C T SNP ANKRD13A ENST00000261739 human ensembl 74_37 +1 known silent c.1563 p.D521 0.066 smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13A HGNC ENSG00000076513 tier1 - - 34 0 0.00 41 9 18.00 125 0 0.00 92 18 15.93 CPA3 0 genome.wustl.edu 37 3 148601470 148601470 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 148601470 148601470 G A SNP CPA3 ENST00000296046 human ensembl 74_37 +1 known silent c.849 p.T283 0.972 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA3 HGNC ENSG00000163751 tier1 rs200538548 - 39 0 0.00 47 13 21.67 86 0 0.00 68 18 20.93 FXR1 0 genome.wustl.edu 37 3 180680695 180680695 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 180680695 180680695 C T SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.1102 p.R368C 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 tier1 - - 72 0 0.00 62 23 27.06 93 0 0.00 98 25 20.33 KIAA1147 0 genome.wustl.edu 37 7 141364761 141364761 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 141364761 141364761 G A SNP KIAA1147 ENST00000536163 human ensembl 74_37 -1 known missense c.1046 p.P349L 1.000 pfam_DUF2347 pfam_DUF2347 - no_errors KIAA1147 HGNC ENSG00000257093 tier1 - - 24 0 0.00 15 7 31.82 27 0 0.00 41 10 19.23 SYNJ1 0 genome.wustl.edu 37 21 34060616 34060616 + Missense_Mutation SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 21 34060616 34060616 C A SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.968 p.R323M 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 tier1 - - 62 0 0.00 40 18 31.03 115 0 0.00 52 29 35.80 DUOX1 0 genome.wustl.edu 37 15 45455992 45455992 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 15 45455992 45455992 T C SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.4409 p.I1470T 1.000 pfam_Fe_red_D-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 tier1 - - 61 0 0.00 42 19 31.15 118 0 0.00 87 34 28.10 ADARB2 0 genome.wustl.edu 37 10 1262943 1262943 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 1262943 1262943 C T SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.1630 p.V544I 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsR-bd_dom,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 tier1 rs151300637 - 118 0 0.00 51 28 35.00 16 0 0.00 10 3 23.08 LILRB1 0 genome.wustl.edu 37 19 55147800 55147800 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 55147800 55147800 C T SNP LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LILRB1 HGNC ENSG00000104972 tier1 - - 29 0 0.00 8 7 46.67 53 0 0.00 36 16 30.77 PIK3C2A 0 genome.wustl.edu 37 11 17121490 17121490 + Silent SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 17121490 17121490 A G SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known silent c.4035 p.L1345 0.997 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 tier1 - - 130 0 0.00 91 40 30.53 120 0 0.00 95 46 32.62 STAB1 0 genome.wustl.edu 37 3 52554459 52554459 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 52554459 52554459 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.5543 p.R1848Q 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 26 0 0.00 7 6 46.15 53 0 0.00 16 6 27.27 TENM2 0 genome.wustl.edu 37 5 167552021 167552021 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 167552021 167552021 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.2175 p.C725 0.929 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 48 0 0.00 31 10 24.39 81 0 0.00 85 37 30.33 ADRBK1 0 genome.wustl.edu 37 11 67049161 67049161 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 67049161 67049161 C T SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.788 p.T263M 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 tier1 - - 34 0 0.00 15 4 21.05 45 0 0.00 26 9 25.71 OSBPL10 0 genome.wustl.edu 37 3 31871582 31871582 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 31871582 31871582 C T SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.679 p.A227T 0.998 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 tier1 - - 55 0 0.00 29 11 27.50 68 0 0.00 49 26 34.67 CSF2RA 0 genome.wustl.edu 37 X 1407438 1407438 + Silent SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca X 1407438 1407438 A G SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known silent c.246 p.T82 0.002 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 115 0 0.00 98 44 30.99 118 0 0.00 118 42 26.25 HAPLN4 0 genome.wustl.edu 37 19 19369469 19369469 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 19369469 19369469 C T SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.680 p.R227Q 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 tier1 - - 132 0 0.00 86 29 25.22 14 0 0.00 14 3 17.65 STXBP5L 0 genome.wustl.edu 37 3 121132018 121132018 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 3 121132018 121132018 C T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.3034 p.R1012C 1.000 pfam_Lgl_C_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 58 0 0.00 40 16 28.57 124 0 0.00 78 30 27.52 GLIS2 0 genome.wustl.edu 37 16 4383462 4383462 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 4383462 4383462 G A SNP GLIS2 ENST00000262366 human ensembl 74_37 +1 known missense c.287 p.S96N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 tier1 - - 76 0 0.00 58 25 29.76 16 0 0.00 10 9 47.37 DPY19L2P1 0 genome.wustl.edu 37 7 35121280 35121280 + R SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 35121280 35121280 G A SNP DPY19L2P1 ENST00000458672 human ensembl 74_37 -1 known rna NULL NULL 0.916 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 98 0 0.00 69 25 26.60 35 0 0.00 29 13 30.95 FAM188A 0 genome.wustl.edu 37 10 15902295 15902295 + Missense_Mutation SNP A A G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 15902295 15902295 A G SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known missense c.4 p.S2P 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 tier1 - - 69 0 0.00 35 15 30.00 74 0 0.00 49 17 25.76 TP53 0 genome.wustl.edu 37 17 7577525 7577527 + In_Frame_Del DEL GAG GAG - TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 GAG GAG GAG - GAG GAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 7577525 7577527 GAG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.756_754 p.L252in_frame_del 1.000:1.000:1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 41 0 0.00 20 7 25.93 74 0 0.00 48 17 26.15 CFH 0 genome.wustl.edu 37 1 196654365 196654365 + Frame_Shift_Del DEL C C - TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 196654365 196654365 C - DEL CFH ENST00000367429 human ensembl 74_37 +1 known frame_shift_del c.962 p.L322fs 0.001 pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 76 0 0.00 62 14 18.42 122 0 0.00 74 15 16.85 TFCP2 0 genome.wustl.edu 37 12 51501087 51501087 + Frame_Shift_Del DEL T T - TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 51501087 51501087 T - DEL TFCP2 ENST00000257915 human ensembl 74_37 -1 known frame_shift_del c.760 p.M254fs 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC ENSG00000135457 tier1 70 0 0.00 63 12 16.00 165 0 0.00 115 43 27.22 PAPD5 0 genome.wustl.edu 37 16 50263693 50263693 + R DEL T T - TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 50263693 50263693 T - DEL PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.737 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 74 0 0.00 53 11 17.19 59 1 1.67 47 12 20.34 CCDC107 0 genome.wustl.edu 37 9 35660635 35660635 + Frame_Shift_Del DEL T T - TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 35660635 35660635 T - DEL CCDC107 ENST00000426546 human ensembl 74_37 +1 known frame_shift_del c.401 p.F135fs 0.998 NULL NULL - no_errors CCDC107 HGNC ENSG00000159884 tier1 55 0 0.00 64 10 13.51 98 0 0.00 143 27 15.88 ADH4 0 genome.wustl.edu 37 4 100060216 100060216 + Frame_Shift_Del DEL T T - TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 100060216 100060216 T - DEL ADH4 ENST00000423445 human ensembl 74_37 -1 known frame_shift_del c.403 p.I135fs 0.147 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ADH4 HGNC ENSG00000198099 tier1 66 0 0.00 29 14 32.56 107 0 0.00 36 18 33.33 CDC14A 0 genome.wustl.edu 37 1 100908566 100908567 + R INS - - T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 100908566 100908567 - T INS CDC14A ENST00000469387 human ensembl 74_37 +1 known rna NULL NULL 0.384:0.000 - - - no_errors CDC14A HGNC ENSG00000079335 tier1 61 0 0.00 54 15 21.74 82 0 0.00 72 18 20.00 ADAMTSL1 0 genome.wustl.edu 37 9 18777457 18777457 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 18777457 18777457 G A SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.3230 p.R1077H 0.998 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 42 0 0.00 18 12 40.00 18 0 0.00 5 3 37.50 ARHGAP23 0 genome.wustl.edu 37 17 36623383 36623383 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 36623383 36623383 G A SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.1459 p.D487N 0.974 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 tier1 - - 60 0 0.00 34 23 40.35 12 0 0.00 8 7 46.67 ATAD3B 0 genome.wustl.edu 37 1 1417600 1417600 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 1417600 1417600 C T SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known silent c.597 p.A199 0.931 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 tier1 - - 84 0 0.00 27 31 53.45 16 0 0.00 4 8 66.67 CARD14 0 genome.wustl.edu 37 17 78172401 78172401 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 78172401 78172401 C T SNP CARD14 ENST00000573754 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CARD14 HGNC ENSG00000141527 tier1 - - 67 0 0.00 44 19 29.69 15 0 0.00 9 4 30.77 CORO7 0 genome.wustl.edu 37 16 4411429 4411429 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 4411429 4411429 C T SNP CORO7 ENST00000576437 human ensembl 74_37 -1 known missense c.305 p.R102H 0.996 NULL NULL - no_errors CORO7 HGNC ENSG00000262246 tier1 - - 57 0 0.00 34 7 17.07 9 0 0.00 8 3 27.27 CTDP1 0 genome.wustl.edu 37 18 77513722 77513722 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 18 77513722 77513722 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.2818 p.E940K 1.000 pfam_FCP1_C pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 tier1 rs139811552 - 59 0 0.00 31 14 31.11 20 0 0.00 9 4 30.77 FCGBP 0 genome.wustl.edu 37 19 40411970 40411970 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 40411970 40411970 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.3658 p.G1220S 0.991 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 72 0 0.00 34 14 29.17 12 0 0.00 5 2 28.57 INSC 0 genome.wustl.edu 37 11 15197525 15197525 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 15197525 15197525 C T SNP INSC ENST00000379554 human ensembl 74_37 +1 known missense c.436 p.R146C 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 tier1 - - 31 0 0.00 11 6 35.29 13 0 0.00 6 2 25.00 PCDHA10 0 genome.wustl.edu 37 5 140235763 140235763 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 140235763 140235763 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.130 p.V44M 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 98 0 0.00 66 13 16.46 7 0 0.00 4 3 42.86 STAG3L1 0 genome.wustl.edu 37 7 74991273 74991273 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 74991273 74991273 C T SNP STAG3L1 ENST00000402225 human ensembl 74_37 +1 known rna NULL NULL 0.959 - - - no_errors STAG3L1 HGNC ENSG00000205583 tier1 - - 44 0 0.00 16 24 60.00 6 0 0.00 8 11 57.89 TADA2B 0 genome.wustl.edu 37 4 7055968 7055968 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 4 7055968 7055968 G A SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known silent c.450 p.P150 0.140 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 tier1 - - 46 0 0.00 20 10 33.33 16 0 0.00 9 3 25.00 WIZ 0 genome.wustl.edu 37 19 15550925 15550925 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 15550925 15550925 G A SNP WIZ ENST00000389282 human ensembl 74_37 -1 known silent c.736 p.L246 0.769 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 tier1 - - 18 0 0.00 18 10 35.71 16 0 0.00 5 8 61.54 PDE4DIP 0 genome.wustl.edu 37 1 144852395 144852395 + Silent SNP T T G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 144852395 144852395 T G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known silent c.7048 p.R2350 0.484 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 257 0 0.00 211 26 10.97 117 0 0.00 123 13 9.56 LOC63930 0 genome.wustl.edu 37 20 61711624 61711624 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 61711624 61711624 C T SNP LOC63930 ENST00000607802 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-305P22.9 Clone_based_vega_gene ENSG00000272259 tier1 - - 34 0 0.00 41 8 16.33 140 0 0.00 148 15 9.20 PTPN4 0 genome.wustl.edu 37 2 120692378 120692378 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 120692378 120692378 G A SNP PTPN4 ENST00000263708 human ensembl 74_37 +1 known missense c.1199 p.R400Q 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 tier1 - - 130 0 0.00 116 14 10.77 132 0 0.00 95 10 9.52 PRDM10 0 genome.wustl.edu 37 11 129794819 129794819 + Missense_Mutation SNP G G C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 129794819 129794819 G C SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.1848 p.F616L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 tier1 - - 49 0 0.00 38 5 11.63 91 0 0.00 93 6 6.06 KCNH6 0 genome.wustl.edu 37 17 61620974 61620974 + Missense_Mutation SNP C C A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 61620974 61620974 C A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.2186 p.P729H 0.651 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 tier1 - - 76 0 0.00 73 7 8.75 57 0 0.00 66 5 7.04 PGLYRP2 0 genome.wustl.edu 37 19 15586656 15586656 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 15586656 15586656 G A SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known silent c.825 p.G275 0.380 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 tier1 - - 59 0 0.00 37 6 13.95 108 0 0.00 117 4 3.31 LOC63930 0 genome.wustl.edu 37 20 61711627 61711627 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 61711627 61711627 C T SNP LOC63930 ENST00000607802 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-305P22.9 Clone_based_vega_gene ENSG00000272259 tier1 - - 33 0 0.00 40 8 16.67 135 0 0.00 145 15 9.38 CYLC2 0 genome.wustl.edu 37 9 105767654 105767654 + Frame_Shift_Del DEL A A - TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 105767654 105767654 A - DEL CYLC2 ENST00000374798 human ensembl 74_37 +1 known frame_shift_del c.741 p.D250fs 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 tier1 73 0 0.00 56 8 12.50 144 0 0.00 143 10 6.54 MPDZ 0 genome.wustl.edu 37 9 13150632 13150632 + Nonsense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 13150632 13150632 G A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known nonsense c.3508 p.R1170* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 tier1 rs200131423 - 71 0 0.00 35 14 28.57 140 0 0.00 79 33 29.46 KANK1 0 genome.wustl.edu 37 9 732477 732477 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 9 732477 732477 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.3105 p.E1035 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 59 0 0.00 30 12 28.57 72 0 0.00 41 23 35.38 PCDH1 0 genome.wustl.edu 37 5 141242814 141242815 + Frame_Shift_Ins INS - - G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 - - - G - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 5 141242814 141242815 - G INS PCDH1 ENST00000287008 human ensembl 74_37 -1 known frame_shift_ins c.3082_3081 p.K1027fs 1.000:1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 tier1 58 0 0.00 45 12 21.05 37 0 0.00 22 9 29.03 MSH6 0 genome.wustl.edu 37 2 48030639 48030640 + Frame_Shift_Ins INS - - C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 48030639 48030640 - C INS MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_ins c.3253_3254 p.F1088fs 0.001:0.003 pfam_D_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_D_mismatch_repair_MutS_core,pirsf_D_mismatch_repair_Msh6 pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_D_mismatch_repair_MutS_clamp,pfam_D_mmatch_repair_MutS_con_dom,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C,pirsf_D_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 108 0 0.00 74 18 19.57 148 1 0.67 95 35 26.92 ABCA10 0 genome.wustl.edu 37 17 67218780 67218780 + Frame_Shift_Del DEL T T - TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 67218780 67218780 T - DEL ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_del c.93 p.K31fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 tier1 116 0 0.00 121 35 22.44 121 0 0.00 90 31 25.62 EGFR 0 genome.wustl.edu 37 7 55087060 55087060 + Splice_Site SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 55087060 55087060 T C SNP EGFR ENST00000275493 human ensembl 74_37 +1 known splice_site c.88+2 e1+2 0.976 - - - no_errors EGFR HGNC ENSG00000146648 tier1 - - 20 0 0.00 18 4 17.39 8 0 0.00 2 0 0.00 NLRP2 0 genome.wustl.edu 37 19 55494501 55494501 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 55494501 55494501 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.1435 p.D479N 0.000 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 NLRP2 HGNC ENSG00000022556 tier1 rs143361632 - 35 0 0.00 19 10 34.48 6 0 0.00 5 0 0.00 POTEC 0 genome.wustl.edu 37 18 14537923 14537923 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 18 14537923 14537923 G A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.687 p.G229 0.939 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 tier1 - - 353 0 0.00 162 64 28.32 10 0 0.00 7 0 0.00 ZNF629 0 genome.wustl.edu 37 16 30795100 30795100 + Silent SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 30795100 30795100 G A SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known silent c.549 p.C183 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 tier1 - - 35 0 0.00 18 6 25.00 8 0 0.00 4 0 0.00 ALPP 0 genome.wustl.edu 37 2 233246473 233246475 + In_Frame_Del DEL CTG CTG - TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 2 233246473 233246475 CTG - DEL ALPP ENST00000392027 human ensembl 74_37 +1 known in_frame_del c.1576_1578 p.L529in_frame_del 0.007:0.103:0.307 NULL pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 tier1 21 0 0.00 18 3 14.29 0 0 0.00 5 0 0.00 C1orf86 0 genome.wustl.edu 37 1 2125187 2125187 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 2125187 2125187 G A SNP C1orf86 ENST00000378545 human ensembl 74_37 -1 known missense c.670 p.R224C 0.000 NULL NULL - no_errors C1orf86 HGNC ENSG00000162585 tier1 - - 51 0 0.00 28 15 34.88 2 0 0.00 5 0 0.00 CHRM1 0 genome.wustl.edu 37 11 62677864 62677864 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 62677864 62677864 T C SNP CHRM1 ENST00000306960 human ensembl 74_37 -1 known missense c.709 p.S237G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 tier1 - - 21 0 0.00 7 6 46.15 1 0 0.00 4 1 20.00 EHD2 0 genome.wustl.edu 37 19 48244692 48244693 + R INS - - G TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 48244692 48244693 - G INS EHD2 ENST00000540884 human ensembl 74_37 +1 known rna NULL NULL 0.938:0.089 - - - no_errors EHD2 HGNC ENSG00000024422 tier1 9 0 0.00 10 4 28.57 0 0 0.00 0 0 0.00 ENSG00000254967 0 genome.wustl.edu 37 11 125821790 125821790 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 11 125821790 125821790 C T SNP ENSG00000254967 ENST00000524962 human ensembl 74_37 +1 known rna NULL NULL 0.915 - - - no_errors RP11-680F20.6 Clone_based_vega_gene ENSG00000254967 tier1 - - 42 0 0.00 23 14 37.84 4 0 0.00 4 0 0.00 HECTD4 0 genome.wustl.edu 37 12 112601463 112601463 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 112601463 112601463 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.12264 p.T4088 0.014 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 19 0 0.00 18 4 18.18 3 0 0.00 3 0 0.00 LATS2 0 genome.wustl.edu 37 13 21563156 21563156 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 13 21563156 21563156 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.763 p.R255W 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 tier1 - - 17 0 0.00 11 9 42.86 2 0 0.00 3 0 0.00 LINC00623 0 genome.wustl.edu 37 1 149576483 149576483 + R SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 149576483 149576483 G A SNP LINC00623 ENST00000455295 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-353N4.6 Clone_based_vega_gene ENSG00000269501 tier1 - - 21 0 0.00 16 4 20.00 0 0 0.00 0 0 0.00 MAP3K6 0 genome.wustl.edu 37 1 27684949 27684949 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 1 27684949 27684949 G A SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known missense c.2737 p.R913C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 tier1 - - 52 0 0.00 40 15 27.27 2 0 0.00 8 0 0.00 NGFR 0 genome.wustl.edu 37 17 47590304 47590304 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 47590304 47590304 G A SNP NGFR ENST00000172229 human ensembl 74_37 +1 known missense c.1217 p.R406H 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 tier1 - - 52 0 0.00 41 21 33.33 2 0 0.00 1 0 0.00 NPIPB4 0 genome.wustl.edu 37 16 21854779 21854779 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 21854779 21854779 C T SNP NPIPB4 ENST00000415645 human ensembl 74_37 -1 known missense c.473 p.R158H 0.000 NULL NULL - no_errors NPIPB4 HGNC ENSG00000185864 tier1 - - 684 0 0.00 592 69 10.44 0 0 0.00 0 0 0.00 PSG2 0 genome.wustl.edu 37 19 43585129 43585129 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 19 43585129 43585129 C T SNP PSG2 ENST00000406487 human ensembl 74_37 -1 known missense c.334 p.V112I 0.304 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG2 HGNC ENSG00000242221 tier1 - - 240 0 0.00 171 65 27.54 0 0 0.00 0 0 0.00 PTMAP5 0 genome.wustl.edu 37 13 82264110 82264110 + R SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 13 82264110 82264110 C T SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.945 - - - no_errors PTMAP5 HGNC ENSG00000214182 tier1 - - 21 0 0.00 17 15 46.88 3 0 0.00 2 1 33.33 SFMBT2 0 genome.wustl.edu 37 10 7213964 7213964 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 10 7213964 7213964 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2308 p.V770M 0.002 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 49 0 0.00 21 9 30.00 0 0 0.00 0 0 0.00 TNRC18 0 genome.wustl.edu 37 7 5352432 5352432 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 7 5352432 5352432 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.8090 p.A2697V 0.652 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 34 0 0.00 23 17 40.48 1 0 0.00 0 1 100.00 TSEN54 0 genome.wustl.edu 37 17 73518349 73518349 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 73518349 73518349 G A SNP TSEN54 ENST00000333213 human ensembl 74_37 +1 known missense c.1187 p.R396Q 0.000 NULL NULL - no_errors TSEN54 HGNC ENSG00000182173 tier1 - - 19 0 0.00 8 5 38.46 1 0 0.00 2 1 33.33 ULK1 0 genome.wustl.edu 37 12 132403074 132403074 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 12 132403074 132403074 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.2359 p.R787C 0.965 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 - - 96 0 0.00 53 28 34.57 2 0 0.00 4 1 20.00 COL1A1 0 genome.wustl.edu 37 17 48266268 48266268 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 17 48266268 48266268 C T SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.3041 p.R1014H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 tier1 - - 41 0 0.00 27 6 18.18 3 0 0.00 5 2 28.57 MAPK3 0 genome.wustl.edu 37 16 30128165 30128165 + Missense_Mutation SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 16 30128165 30128165 C T SNP MAPK3 ENST00000403394 human ensembl 74_37 -1 known missense c.1067 p.G356D 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK3 HGNC ENSG00000102882 tier1 - - 50 0 0.00 42 11 20.75 4 0 0.00 7 5 41.67 LOXHD1 0 genome.wustl.edu 37 18 44121827 44121827 + Nonsense_Mutation SNP A A T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 18 44121827 44121827 A T SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known nonsense c.3825 p.C1275* 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 65 0 0.00 38 9 19.15 53 0 0.00 62 3 4.62 TCEA2 0 genome.wustl.edu 37 20 62694711 62694711 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ec03515c-a013-4a2d-82e0-8a2b4cd25321 5706f461-3e8d-4d11-99cd-adb6d97ae6ca 20 62694711 62694711 G A SNP TCEA2 ENST00000343484 human ensembl 74_37 +1 known missense c.46 p.D16N 1.000 superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC ENSG00000171703 tier1 - - 31 0 0.00 3 6 66.67 24 0 0.00 21 2 8.70