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 ZDHHC16 0 genome.wustl.edu 37 10 99216759 99216759 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 99216759 99216759 C T SNP ZDHHC16 ENST00000487315 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors ZDHHC16 HGNC ENSG00000171307 tier1 - - 100 0 0.00 25 37 59.68 123 0 0.00 34 44 56.41 AKD1 0 genome.wustl.edu 37 1 109365795 109365795 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 109365795 109365795 C T SNP AKD1 ENST00000369995 human ensembl 74_37 -1 known missense c.2266 p.E756K 0.000 NULL pfam_TF_AT-hook - no_errors AKD1 HGNC ENSG00000162641 tier1 - - 47 0 0.00 65 9 12.16 123 0 0.00 70 24 25.53 ZNF791 0 genome.wustl.edu 37 19 12734576 12734576 + Silent SNP T T G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 12734576 12734576 T G SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known silent c.66 p.A22 0.638 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 ZNF791 HGNC ENSG00000173875 tier1 - - 45 0 0.00 53 13 19.70 29 0 0.00 26 4 12.90 ATP13A4 0 genome.wustl.edu 37 3 193182748 193182748 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 193182748 193182748 T C SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.1442 p.N481S 1.000 pfam_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 tier1 - - 57 0 0.00 46 21 31.34 90 0 0.00 68 25 26.88 RASSF9 0 genome.wustl.edu 37 12 86198702 86198702 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 86198702 86198702 C T SNP RASSF9 ENST00000361228 human ensembl 74_37 -1 known silent c.1086 p.K362 0.989 NULL smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF9 HGNC ENSG00000198774 tier1 - - 31 0 0.00 23 7 22.58 106 0 0.00 39 9 18.75 POSTN 0 genome.wustl.edu 37 13 38145479 38145479 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 38145479 38145479 C T SNP POSTN ENST00000497145 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POSTN HGNC ENSG00000133110 tier1 - - 70 0 0.00 34 12 26.09 156 0 0.00 100 43 30.07 OR10X1 0 genome.wustl.edu 37 1 158548922 158548922 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 158548922 158548922 G A SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known silent c.768 p.T256 0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 tier1 - - 32 0 0.00 16 9 36.00 72 0 0.00 36 27 42.86 SYNGR1 0 genome.wustl.edu 37 22 39770609 39770609 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 39770609 39770609 C T SNP SYNGR1 ENST00000415332 human ensembl 74_37 +1 known missense c.388 p.P130S 0.004 NULL pfam_Marvel - no_errors SYNGR1 HGNC ENSG00000100321 tier1 - - 51 0 0.00 31 18 36.73 49 0 0.00 35 22 38.60 PAK7 0 genome.wustl.edu 37 20 9546748 9546748 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 9546748 9546748 G A SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.1274 p.S425F 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 tier1 - - 41 0 0.00 23 19 45.24 30 0 0.00 17 13 43.33 ANK3 0 genome.wustl.edu 37 10 61833091 61833091 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 61833091 61833091 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.7548 p.S2516 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 87 0 0.00 24 38 61.29 120 0 0.00 20 44 68.75 PTPRF 0 genome.wustl.edu 37 1 44057050 44057050 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 44057050 44057050 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.1357 p.P453S 0.802 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 14 0 0.00 4 6 60.00 30 0 0.00 15 25 62.50 RYR3 0 genome.wustl.edu 37 15 34042484 34042484 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 34042484 34042484 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8396 p.S2799F 0.993 pfam_Ryanodine_rcpt,superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 49 0 0.00 15 11 42.31 163 1 0.61 36 51 57.95 CAC1E 0 genome.wustl.edu 37 1 181549753 181549753 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 181549753 181549753 C T SNP CAC1E ENST00000367573 human ensembl 74_37 +1 known silent c.792 p.P264 0.934 pfam_Ion_trans_dom,prints_VDCC_R_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CAC1E HGNC ENSG00000198216 tier1 - - 77 0 0.00 39 16 29.09 94 0 0.00 61 13 17.57 LILRA2 0 genome.wustl.edu 37 19 55098685 55098685 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 55098685 55098685 C T SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known missense c.1324 p.P442S 0.007 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 tier1 - - 106 0 0.00 82 24 22.64 71 0 0.00 70 25 26.32 ARPP21 0 genome.wustl.edu 37 3 35835271 35835271 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 35835271 35835271 C T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known nonsense c.2263 p.Q755* 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 46 0 0.00 41 19 31.67 120 0 0.00 122 69 35.94 MECOM 0 genome.wustl.edu 37 3 168838988 168838988 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 168838988 168838988 C T SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.988 p.D330N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 - - 15 0 0.00 11 6 35.29 121 0 0.00 83 32 27.83 WDR52 0 genome.wustl.edu 37 3 113046491 113046491 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 113046491 113046491 G A SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.4292 p.S1431F 0.842 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 tier1 - - 48 0 0.00 46 33 41.25 118 0 0.00 85 30 26.09 CDK5RAP2 0 genome.wustl.edu 37 9 123165309 123165309 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 123165309 123165309 G A SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known silent c.5082 p.S1694 0.984 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 66 0 0.00 17 29 63.04 117 0 0.00 18 48 72.73 NCAPH 0 genome.wustl.edu 37 2 97020049 97020049 + Missense_Mutation SNP T T G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 97020049 97020049 T G SNP NCAPH ENST00000240423 human ensembl 74_37 +1 known missense c.1131 p.D377E 0.971 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 tier1 - - 101 0 0.00 72 12 14.29 109 0 0.00 86 10 10.42 IGFN1 0 genome.wustl.edu 37 1 201169436 201169436 + Missense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 201169436 201169436 A T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.530 p.K177M 1.000 NULL 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 - - 51 0 0.00 37 4 9.76 83 0 0.00 47 15 23.81 KIAA1551 0 genome.wustl.edu 37 12 32134658 32134658 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 32134658 32134658 C T SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.769 p.P257S 0.001 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 34 0 0.00 28 10 26.32 107 0 0.00 77 14 15.38 IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 209113113 209113113 G A SNP IDH1 ENST00000345146 human ensembl 74_37 -1 known missense c.394 p.R132C 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_DP,tigrfam_Isocitrate_DH_DP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_DP,tigrfam_Isocitrate_DH_DP - no_errors IDH1 HGNC ENSG00000138413 tier1 rs121913499 - 57 0 0.00 24 33 57.89 104 1 0.94 63 27 30.00 SSTR1 0 genome.wustl.edu 37 14 38679638 38679638 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 38679638 38679638 G A SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known silent c.1044 p.E348 1.000 prints_Somatstn_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 tier1 - - 42 0 0.00 46 14 23.33 49 0 0.00 21 13 38.24 PRKAA2 0 genome.wustl.edu 37 1 57169696 57169696 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 57169696 57169696 C T SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.841 p.P281S 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 tier1 - - 92 0 0.00 50 43 46.24 153 0 0.00 58 72 55.38 CHN1 0 genome.wustl.edu 37 2 175666464 175666464 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 175666464 175666464 G A SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known silent c.1179 p.T393 0.810 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 tier1 - - 77 0 0.00 49 36 42.35 129 0 0.00 61 41 40.20 HIST1H3B 0 genome.wustl.edu 37 6 26031889 26031889 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 26031889 26031889 C T SNP HIST1H3B ENST00000244661 human ensembl 74_37 -1 known missense c.400 p.E134K 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 tier1 - - 54 0 0.00 42 11 20.75 65 0 0.00 46 6 11.54 ZDHHC16 0 genome.wustl.edu 37 10 99216758 99216758 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 99216758 99216758 C T SNP ZDHHC16 ENST00000487315 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors ZDHHC16 HGNC ENSG00000171307 tier1 - - 99 0 0.00 25 37 59.68 119 1 0.83 34 43 55.84 CCDC150 0 genome.wustl.edu 37 2 197577001 197577001 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 197577001 197577001 G A SNP CCDC150 ENST00000460114 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CCDC150 HGNC ENSG00000144395 tier1 - - 139 0 0.00 59 47 44.34 106 0 0.00 64 20 23.81 PADI3 0 genome.wustl.edu 37 1 17593270 17593270 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 17593270 17593270 C T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known silent c.465 p.D155 0.999 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 tier1 - - 59 0 0.00 38 38 50.00 95 0 0.00 36 27 42.86 DAW1 0 genome.wustl.edu 37 2 228786181 228786181 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 228786181 228786181 G A SNP DAW1 ENST00000309931 human ensembl 74_37 +1 known missense c.1117 p.D373N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DAW1 HGNC ENSG00000123977 tier1 - - 87 0 0.00 63 16 20.25 84 0 0.00 65 16 19.75 SRD5A3-AS1 0 genome.wustl.edu 37 4 56230200 56230200 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 56230200 56230200 C T SNP SRD5A3-AS1 ENST00000433175 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SRD5A3-AS1 HGNC ENSG00000249700 tier1 - - 84 0 0.00 76 39 33.91 101 0 0.00 68 42 38.18 BIN2 0 genome.wustl.edu 37 12 51685941 51685941 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 51685941 51685941 C T SNP BIN2 ENST00000267012 human ensembl 74_37 -1 known missense c.949 p.E317K 0.281 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 tier1 - - 36 0 0.00 22 7 24.14 73 0 0.00 34 23 40.35 ABCB5 0 genome.wustl.edu 37 7 20668438 20668438 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 20668438 20668438 G A SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.236 p.G79E 0.687 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 tier1 - - 132 0 0.00 62 63 50.40 118 0 0.00 77 65 45.14 DCHS2 0 genome.wustl.edu 37 4 155241759 155241759 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 155241759 155241759 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.3427 p.D1143N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 53 0 0.00 22 20 47.62 47 0 0.00 11 15 57.69 MAGEC1 0 genome.wustl.edu 37 X 140996004 140996004 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 140996004 140996004 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.2814 p.V938 0.005 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 37 0 0.00 11 30 73.17 25 0 0.00 13 11 45.83 EYS 0 genome.wustl.edu 37 6 66053984 66053984 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 66053984 66053984 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1546 p.D516N 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 73 0 0.00 53 32 37.65 96 0 0.00 47 28 37.33 GRM3 0 genome.wustl.edu 37 7 86394606 86394606 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 86394606 86394606 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.145 p.E49K 1.000 superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 55 0 0.00 32 10 23.81 132 0 0.00 66 23 25.84 THSD7B 0 genome.wustl.edu 37 2 137814297 137814297 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 137814297 137814297 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.447 p.L149 0.994 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 58 0 0.00 24 7 22.58 79 0 0.00 59 12 16.90 NME7 0 genome.wustl.edu 37 1 169272385 169272385 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 169272385 169272385 G A SNP NME7 ENST00000367811 human ensembl 74_37 -1 known silent c.438 p.F146 0.901 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 tier1 - - 222 0 0.00 171 39 18.48 101 0 0.00 87 29 24.79 LIMCH1 0 genome.wustl.edu 37 4 41621210 41621210 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 41621210 41621210 G A SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.211 p.G71R 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 33 0 0.00 10 21 67.74 132 0 0.00 36 39 52.00 PRKXP1 0 genome.wustl.edu 37 15 101088136 101088136 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 101088136 101088136 C T SNP PRKXP1 ENST00000602585 human ensembl 74_37 -1 known rna NULL NULL 0.149 - - - no_errors RP11-526I2.5 Clone_based_vega_gene ENSG00000270127 tier1 - - 34 0 0.00 25 11 30.56 82 1 1.20 61 10 14.08 EYS 0 genome.wustl.edu 37 6 65327356 65327356 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 65327356 65327356 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.3639 p.M1213I 0.000 smart_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 68 0 0.00 28 27 49.09 159 0 0.00 73 50 40.65 SERPI3 0 genome.wustl.edu 37 14 95088710 95088710 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 95088710 95088710 C T SNP SERPI3 ENST00000393078 human ensembl 74_37 +1 known missense c.950 p.S317F 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI3 HGNC ENSG00000196136 tier1 - - 89 0 0.00 39 31 44.29 132 0 0.00 67 45 40.18 KIF1A 0 genome.wustl.edu 37 2 241728728 241728728 + Silent SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 241728728 241728728 G T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known silent c.108 p.T36 0.960 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 127 0 0.00 57 29 33.72 161 0 0.00 72 48 39.67 TACC2 0 genome.wustl.edu 37 10 123848097 123848097 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 123848097 123848097 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.5564 p.G1855E 0.001 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 - - 89 0 0.00 36 51 58.62 123 1 0.81 28 46 61.33 GPC6 0 genome.wustl.edu 37 13 95055375 95055375 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 95055375 95055375 G A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known silent c.1572 p.R524 0.999 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 38 0 0.00 19 7 26.92 71 0 0.00 46 15 24.19 XIRP2 0 genome.wustl.edu 37 2 168105327 168105327 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 168105327 168105327 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.7425 p.T2475 0.001 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 76 0 0.00 41 27 39.71 141 0 0.00 65 37 35.92 MSI2 0 genome.wustl.edu 37 17 55704589 55704589 + Splice_Site SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 55704589 55704589 G A SNP MSI2 ENST00000284073 human ensembl 74_37 +1 known splice_site c.653-1 e10-1 1.000 - - - no_errors MSI2 HGNC ENSG00000153944 tier1 - - 73 0 0.00 10 31 75.61 136 0 0.00 34 51 60.00 TRPM5 0 genome.wustl.edu 37 11 2432960 2432960 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 2432960 2432960 G A SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.2518 p.L840F 0.999 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 tier1 - - 55 0 0.00 18 21 53.85 27 0 0.00 12 9 42.86 IL22RA1 0 genome.wustl.edu 37 1 24447539 24447539 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 24447539 24447539 C T SNP IL22RA1 ENST00000270800 human ensembl 74_37 -1 novel missense c.1481 p.G494D 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 tier1 rs137928018 GMAF=0.0005 57 0 0.00 44 8 15.09 111 0 0.00 92 19 17.12 CYP2C19 0 genome.wustl.edu 37 10 96541613 96541613 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 96541613 96541613 C T SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known silent c.678 p.F226 0.011 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 tier1 - - 241 0 0.00 61 116 65.17 61 0 0.00 25 23 47.92 LAMA4 0 genome.wustl.edu 37 6 112462089 112462089 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 112462089 112462089 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.2849 p.P950L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 91 0 0.00 47 20 29.85 133 0 0.00 92 16 14.81 PAPPA2 0 genome.wustl.edu 37 1 176668379 176668379 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 176668379 176668379 G A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2890 p.D964N 0.912 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 rs201513629 - 38 0 0.00 26 19 42.22 60 0 0.00 34 25 42.37 CATSPERB 0 genome.wustl.edu 37 14 92058305 92058305 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 92058305 92058305 C T SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known silent c.2751 p.R917 0.021 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 tier1 - - 115 0 0.00 85 48 36.09 118 0 0.00 53 58 52.25 EMC1 0 genome.wustl.edu 37 1 19565283 19565283 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 19565283 19565283 C T SNP EMC1 ENST00000467423 human ensembl 74_37 -1 known rna NULL NULL 0.557 - - - no_errors EMC1 HGNC ENSG00000127463 tier1 - - 109 0 0.00 102 11 9.73 128 0 0.00 126 18 12.50 LRP1B 0 genome.wustl.edu 37 2 141946119 141946119 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 141946119 141946119 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.884 p.R295Q 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_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 - - 70 0 0.00 30 30 50.00 102 0 0.00 54 30 35.71 ZNF831 0 genome.wustl.edu 37 20 57770975 57770975 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 57770975 57770975 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.3790 p.P1264S 0.162 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 118 0 0.00 67 59 46.83 108 1 0.92 106 44 29.14 YIF1A 0 genome.wustl.edu 37 11 66055329 66055329 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 66055329 66055329 T C SNP YIF1A ENST00000376901 human ensembl 74_37 -1 known missense c.302 p.Y101C 1.000 pfam_Hrf1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 tier1 - - 113 0 0.00 77 42 35.29 107 0 0.00 74 29 28.16 ZNF790 0 genome.wustl.edu 37 19 37309433 37309433 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 37309433 37309433 C A SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.1813 p.A605S 0.000 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 ZNF790 HGNC ENSG00000197863 tier1 - - 146 0 0.00 105 19 15.32 117 0 0.00 100 22 18.03 ZNF530 0 genome.wustl.edu 37 19 58115665 58115665 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 58115665 58115665 G A SNP ZNF530 ENST00000332854 human ensembl 74_37 +1 known silent c.51 p.E17 0.398 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 ZNF530 HGNC ENSG00000183647 tier1 - - 90 0 0.00 88 17 16.19 130 0 0.00 79 26 24.76 CSRNP1 0 genome.wustl.edu 37 3 39184660 39184660 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 39184660 39184660 G A SNP CSRNP1 ENST00000273153 human ensembl 74_37 -1 known silent c.1656 p.F552 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP1 HGNC ENSG00000144655 tier1 - - 90 0 0.00 57 46 43.81 43 0 0.00 20 19 48.72 CKAP4 0 genome.wustl.edu 37 12 106633618 106633618 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 106633618 106633618 G A SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known silent c.993 p.L331 1.000 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 tier1 - - 55 0 0.00 35 13 27.08 33 0 0.00 20 7 25.93 APOBEC3B 0 genome.wustl.edu 37 22 39380213 39380213 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 39380213 39380213 G A SNP APOBEC3B ENST00000333467 human ensembl 74_37 +1 known missense c.151 p.D51N 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 tier1 - - 106 0 0.00 72 23 24.21 86 0 0.00 70 17 19.54 MUC5AC 0 genome.wustl.edu 37 11 1214196 1214196 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 1214196 1214196 C T SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.904 - - - no_errors MUC5AC HGNC ENSG00000215182 tier1 - - 67 0 0.00 48 11 18.64 152 0 0.00 96 12 11.11 SP91 0 genome.wustl.edu 37 6 84350864 84350864 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 84350864 84350864 C T SNP SP91 ENST00000369694 human ensembl 74_37 -1 known missense c.716 p.R239Q 1.000 pfam_ANTH_dom pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SP91 HGNC ENSG00000065609 tier1 - - 220 0 0.00 136 50 26.74 85 0 0.00 83 29 25.89 ISM1 0 genome.wustl.edu 37 20 13251361 13251361 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 13251361 13251361 G A SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.349 p.D117N 1.000 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 tier1 - - 69 0 0.00 74 49 39.52 137 0 0.00 114 39 25.49 ZSCAN20 0 genome.wustl.edu 37 1 33956656 33956656 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 33956656 33956656 C T SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known silent c.798 p.S266 0.001 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 tier1 - - 52 0 0.00 28 8 22.22 85 0 0.00 63 30 32.26 ENSG00000251273 0 genome.wustl.edu 37 5 25190556 25190556 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 25190556 25190556 C T SNP ENSG00000251273 ENST00000507600 human ensembl 74_37 -1 known rna NULL NULL 0.399 - - - no_errors RP11-549K20.1 Clone_based_vega_gene ENSG00000251273 tier1 - - 49 0 0.00 43 6 12.24 56 0 0.00 22 5 18.52 GPR64 0 genome.wustl.edu 37 X 19017310 19017310 + Silent SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 19017310 19017310 A T SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known silent c.2418 p.I806 0.876 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 tier1 - - 49 0 0.00 17 36 67.92 67 0 0.00 16 31 64.58 NPHP1 0 genome.wustl.edu 37 2 110881436 110881436 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 110881436 110881436 G A SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known missense c.2134 p.H712Y 0.414 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 tier1 - - 65 0 0.00 38 35 47.95 106 0 0.00 41 34 44.74 DPP10 0 genome.wustl.edu 37 2 116447290 116447290 + Missense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 116447290 116447290 T A SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.481 p.Y161N 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 75 0 0.00 50 15 23.08 61 0 0.00 37 18 32.73 DYNC2H1 0 genome.wustl.edu 37 11 103270502 103270502 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 103270502 103270502 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.12289 p.V4097F 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 86 0 0.00 33 8 19.51 99 0 0.00 64 12 15.79 CCDC33 0 genome.wustl.edu 37 15 74588137 74588137 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 74588137 74588137 C T SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.1747 p.P583S 0.897 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 tier1 - - 42 0 0.00 35 11 23.91 121 0 0.00 64 21 24.71 SART3 0 genome.wustl.edu 37 12 108939020 108939020 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 108939020 108939020 G A SNP SART3 ENST00000228284 human ensembl 74_37 -1 known silent c.624 p.S208 0.999 smart_HAT pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 tier1 - - 120 0 0.00 47 27 36.00 173 0 0.00 75 22 22.68 SYNDIG1 0 genome.wustl.edu 37 20 24565519 24565519 + Missense_Mutation SNP G G C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 24565519 24565519 G C SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.508 p.E170Q 1.000 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 tier1 - - 51 0 0.00 30 26 46.43 68 0 0.00 54 24 30.77 DANCR 0 genome.wustl.edu 37 4 53579716 53579716 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 53579716 53579716 C T SNP DANCR ENST00000411630 human ensembl 74_37 +1 known rna NULL NULL 0.056 - - - no_errors DANCR HGNC ENSG00000226950 tier1 - - 13 0 0.00 6 10 62.50 124 0 0.00 105 43 29.05 KIAA1239 0 genome.wustl.edu 37 4 37440572 37440572 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 37440572 37440572 C A SNP KIAA1239 ENST00000309447 human ensembl 74_37 +1 known missense c.856 p.P286T 0.988 NULL superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 tier1 - - 88 0 0.00 41 8 16.33 152 0 0.00 70 9 11.39 CELA2A 0 genome.wustl.edu 37 1 15788056 15788056 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 15788056 15788056 G A SNP CELA2A ENST00000359621 human ensembl 74_37 +1 known missense c.130 p.V44I 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2A HGNC ENSG00000142615 tier1 - - 52 0 0.00 71 13 15.48 51 0 0.00 33 4 10.81 C14orf166B 0 genome.wustl.edu 37 14 77292895 77292895 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 77292895 77292895 G A SNP C14orf166B ENST00000393774 human ensembl 74_37 +1 known silent c.57 p.R19 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 tier1 - - 43 0 0.00 40 23 36.51 93 0 0.00 44 37 45.68 PPP3R2 0 genome.wustl.edu 37 9 104356751 104356751 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 104356751 104356751 C T SNP PPP3R2 ENST00000374806 human ensembl 74_37 -1 known silent c.462 p.E154 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors PPP3R2 HGNC ENSG00000188386 tier1 - - 61 0 0.00 19 33 63.46 104 0 0.00 28 29 50.00 TMCO5A 0 genome.wustl.edu 37 15 38229552 38229552 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 38229552 38229552 G A SNP TMCO5A ENST00000319669 human ensembl 74_37 +1 known silent c.270 p.R90 1.000 NULL NULL - no_errors TMCO5A HGNC ENSG00000166069 tier1 - - 104 0 0.00 37 36 49.32 167 0 0.00 39 38 49.35 LOC100631378 0 genome.wustl.edu 37 19 38327560 38327560 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 38327560 38327560 G A SNP LOC100631378 ENST00000433142 human ensembl 74_37 -1 known rna NULL NULL 0.345 - - - no_errors AC016582.2 Clone_based_vega_gene ENSG00000225868 tier1 - - 65 0 0.00 32 27 45.76 92 0 0.00 55 53 49.07 SLC25A6 0 genome.wustl.edu 37 X 1505534 1505534 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 1505534 1505534 G A SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known silent c.858 p.F286 0.996 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 tier1 - - 157 0 0.00 77 70 47.62 55 0 0.00 13 22 62.86 CCDC60 0 genome.wustl.edu 37 12 119866561 119866561 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 119866561 119866561 G A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.164 p.R55Q 0.962 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 85 0 0.00 48 12 20.00 133 0 0.00 59 21 26.25 USH2A 0 genome.wustl.edu 37 1 215914811 215914811 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 215914811 215914811 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.11617 p.P3873S 0.980 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 73 0 0.00 67 23 25.56 121 0 0.00 63 12 15.79 C12orf44 0 genome.wustl.edu 37 12 52470782 52470782 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 52470782 52470782 C T SNP C12orf44 ENST00000336854 human ensembl 74_37 +1 known silent c.465 p.I155 0.153 pfam_ATG101 pfam_ATG101 - no_errors C12orf44 HGNC ENSG00000123395 tier1 - - 51 0 0.00 29 8 21.62 109 0 0.00 52 22 29.73 LRRC7 0 genome.wustl.edu 37 1 70486803 70486803 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 70486803 70486803 G A SNP LRRC7 ENST00000415775 human ensembl 74_37 +1 known missense c.17 p.G6E 0.992 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 209 0 0.00 104 90 46.39 158 0 0.00 83 63 43.15 ZNF284 0 genome.wustl.edu 37 19 44591126 44591126 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 44591126 44591126 C T SNP ZNF284 ENST00000421176 human ensembl 74_37 +1 known missense c.1495 p.R499C 0.004 pfam_Znf_C2H2,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 ZNF284 HGNC ENSG00000186026 tier1 - - 90 0 0.00 29 31 51.67 81 0 0.00 37 39 51.32 PKHD1L1 0 genome.wustl.edu 37 8 110445410 110445410 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 110445410 110445410 T C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.3305 p.V1102A 0.996 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 166 0 0.00 157 66 29.46 158 0 0.00 131 75 36.41 ITPR1 0 genome.wustl.edu 37 3 4714890 4714890 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 4714890 4714890 C T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known nonsense c.2230 p.Q744* 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 46 0 0.00 27 26 49.06 68 0 0.00 39 25 38.46 CNGA3 0 genome.wustl.edu 37 2 99012478 99012478 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 99012478 99012478 C T SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.845 p.S282F 0.519 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 tier1 - - 102 0 0.00 53 8 13.11 153 0 0.00 133 31 18.90 SYCP1 0 genome.wustl.edu 37 1 115466175 115466175 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 115466175 115466175 C T SNP SYCP1 ENST00000493377 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors SYCP1 HGNC ENSG00000198765 tier1 - - 200 0 0.00 109 125 53.42 89 0 0.00 50 55 52.38 PDE1A 0 genome.wustl.edu 37 2 183032974 183032974 + Nonstop_Mutation SNP T T G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 183032974 183032974 T G SNP PDE1A ENST00000358139 human ensembl 74_37 -1 known nonstop c.1608 p.*536Y 0.202 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 tier1 - - 45 0 0.00 36 11 22.92 103 0 0.00 76 13 14.61 RIMBP2 0 genome.wustl.edu 37 12 130926493 130926493 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 130926493 130926493 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.1353 p.K451 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 96 0 0.00 39 20 33.90 123 0 0.00 42 15 26.32 SART3 0 genome.wustl.edu 37 12 108939021 108939021 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 108939021 108939021 G A SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.623 p.S208F 1.000 smart_HAT pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 tier1 - - 120 0 0.00 47 26 34.67 176 0 0.00 76 21 21.65 C20orf26 0 genome.wustl.edu 37 20 20322481 20322481 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 20322481 20322481 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.3429 p.F1143 0.984 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 - - 62 0 0.00 39 37 48.05 144 0 0.00 100 65 39.39 SYT15 0 genome.wustl.edu 37 10 46967597 46967597 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 46967597 46967597 C T SNP SYT15 ENST00000374323 human ensembl 74_37 -1 known silent c.639 p.E213 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 tier1 - - 44 0 0.00 24 5 17.24 102 0 0.00 49 15 22.73 MTG2 0 genome.wustl.edu 37 20 60772752 60772752 + R SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 60772752 60772752 T A SNP MTG2 ENST00000461411 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors MTG2 HGNC ENSG00000101181 tier1 - - 22 0 0.00 9 6 40.00 110 0 0.00 74 41 35.34 PRAMEF7 0 genome.wustl.edu 37 1 12979742 12979742 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 12979742 12979742 C T SNP PRAMEF7 ENST00000330881 human ensembl 74_37 +1 known missense c.934 p.L312F 0.001 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 tier1 - - 219 0 0.00 214 80 27.21 90 0 0.00 70 19 21.35 KCNQ5 0 genome.wustl.edu 37 6 73904753 73904753 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 73904753 73904753 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known silent c.2445 p.R815 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 61 0 0.00 41 14 25.45 121 0 0.00 67 51 43.22 PDE10A 0 genome.wustl.edu 37 6 165846605 165846605 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 165846605 165846605 G A SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.550 p.P184S 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 tier1 - - 79 0 0.00 48 14 22.58 120 0 0.00 83 21 20.19 CYP8B1 0 genome.wustl.edu 37 3 42916565 42916565 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 42916565 42916565 C T SNP CYP8B1 ENST00000316161 human ensembl 74_37 -1 known silent c.744 p.K248 0.521 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 tier1 - - 63 0 0.00 35 26 42.62 63 0 0.00 23 25 52.08 USH2A 0 genome.wustl.edu 37 1 216061968 216061968 + Missense_Mutation SNP G G C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 216061968 216061968 G C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.8023 p.L2675V 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 54 0 0.00 31 9 22.50 107 0 0.00 48 19 28.36 ACAD11 0 genome.wustl.edu 37 3 132337554 132337554 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 132337554 132337554 G A SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known silent c.1338 p.H446 1.000 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 tier1 rs142318482 - 135 1 0.74 120 77 39.09 117 0 0.00 50 55 52.38 TAF1L 0 genome.wustl.edu 37 9 32634836 32634836 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 32634836 32634836 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.742 p.E248K 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 82 0 0.00 41 34 45.33 86 0 0.00 32 30 48.39 MECOM 0 genome.wustl.edu 37 3 168806964 168806964 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 168806964 168806964 C T SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.3382 p.E1128K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 - - 34 0 0.00 32 28 46.67 79 1 1.25 40 37 48.05 PRKAA2 0 genome.wustl.edu 37 1 57170103 57170103 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 57170103 57170103 G A SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.1248 p.M416I 1.000 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 tier1 - - 91 0 0.00 56 45 44.55 108 0 0.00 68 67 49.63 CRTC3 0 genome.wustl.edu 37 15 91141745 91141745 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 91141745 91141745 C T SNP CRTC3 ENST00000561290 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors CRTC3 HGNC ENSG00000140577 tier1 - - 38 0 0.00 24 19 44.19 88 0 0.00 32 19 37.25 BAZ2A 0 genome.wustl.edu 37 12 57005206 57005206 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 57005206 57005206 G A SNP BAZ2A ENST00000549327 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 18 0 0.00 6 5 45.45 166 0 0.00 79 36 31.30 CUZD1 0 genome.wustl.edu 37 10 124591959 124591959 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 124591959 124591959 C T SNP CUZD1 ENST00000368904 human ensembl 74_37 -1 known silent c.1659 p.Q553 0.000 NULL pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC ENSG00000138161 tier1 - - 62 0 0.00 14 31 68.89 79 0 0.00 20 64 76.19 EP400 0 genome.wustl.edu 37 12 132551345 132551345 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 132551345 132551345 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8688 p.Q2896 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 78 0 0.00 36 17 32.08 54 0 0.00 43 15 25.86 LIG4 0 genome.wustl.edu 37 13 108861597 108861597 + Missense_Mutation SNP G G C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 108861597 108861597 G C SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.2020 p.P674A 0.899 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_D_ligase_ATP-dep_cent,pfam_D_ligase_ATP-dep_N,pfam_D_ligase_IV,pfam_BRCT_dom,pfam_D_ligase_ATP-dep_C,superfamily_-bd_OB-fold,superfamily_BRCT_dom,superfamily_D_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_D_ligase_ATP-dep_cent,tigrfam_D_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 tier1 - - 99 0 0.00 49 5 9.26 180 0 0.00 83 10 10.64 FMN2 0 genome.wustl.edu 37 1 240371671 240371671 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 240371671 240371671 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3559 p.P1187T 0.668 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 142 0 0.00 139 32 18.71 40 0 0.00 17 5 22.73 EDIL3 0 genome.wustl.edu 37 5 83362411 83362411 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 83362411 83362411 C T SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known silent c.666 p.R222 0.991 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 tier1 - - 82 0 0.00 30 46 60.53 143 0 0.00 35 34 49.28 DOK6 0 genome.wustl.edu 37 18 67231792 67231792 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 67231792 67231792 C T SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known missense c.136 p.P46S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 tier1 - - 63 0 0.00 28 19 40.43 122 0 0.00 36 61 62.89 ADAMTS18 0 genome.wustl.edu 37 16 77356355 77356355 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 77356355 77356355 G A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known nonsense c.2041 p.R681* 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 63 0 0.00 35 25 41.67 136 1 0.72 83 78 48.45 ALG11 0 genome.wustl.edu 37 13 52598149 52598149 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 52598149 52598149 G A SNP ALG11 ENST00000521508 human ensembl 74_37 +1 known missense c.283 p.E95K 0.999 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 tier1 - - 64 0 0.00 36 11 23.40 99 1 1.00 59 33 35.87 TNFRSF25 0 genome.wustl.edu 37 1 6523083 6523083 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 6523083 6523083 C T SNP TNFRSF25 ENST00000485036 human ensembl 74_37 -1 known missense c.667 p.G223R 0.007 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 tier1 - - 52 0 0.00 18 19 51.35 86 0 0.00 29 30 50.00 EGFL6 0 genome.wustl.edu 37 X 13624542 13624542 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 13624542 13624542 C T SNP EGFL6 ENST00000380602 human ensembl 74_37 +1 known nonsense c.565 p.R189* 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000198759 tier1 - - 47 0 0.00 12 27 69.23 65 0 0.00 23 38 62.30 BCAR1 0 genome.wustl.edu 37 16 75269881 75269881 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 75269881 75269881 A G SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.1054 p.Y352H 0.999 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 tier1 - - 17 0 0.00 15 7 31.82 56 0 0.00 34 19 35.85 ENSG00000234921 0 genome.wustl.edu 37 9 126794583 126794583 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 126794583 126794583 C T SNP ENSG00000234921 ENST00000429482 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-85O21.5 Clone_based_vega_gene ENSG00000234921 tier1 - - 19 0 0.00 4 10 71.43 87 0 0.00 26 46 63.89 MAP7 0 genome.wustl.edu 37 6 136667182 136667182 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 136667182 136667182 C T SNP MAP7 ENST00000454590 human ensembl 74_37 -1 known missense c.2117 p.G706D 1.000 NULL pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 tier1 - - 119 0 0.00 55 37 40.22 27 0 0.00 14 6 30.00 OR51A4 0 genome.wustl.edu 37 11 4967671 4967671 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 4967671 4967671 G A SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known silent c.660 p.T220 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 tier1 rs147755934 - 171 1 0.58 65 58 47.15 135 0 0.00 44 56 56.00 HNRNPF 0 genome.wustl.edu 37 10 43882742 43882742 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 43882742 43882742 G A SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known silent c.591 p.P197 0.985 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 tier1 - - 37 0 0.00 11 17 60.71 77 0 0.00 34 35 50.00 TRPM5 0 genome.wustl.edu 37 11 2432961 2432961 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 2432961 2432961 G A SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known silent c.2517 p.V839 0.769 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 tier1 - - 55 0 0.00 18 21 53.85 27 0 0.00 12 9 42.86 TBRG1 0 genome.wustl.edu 37 11 124502104 124502104 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 124502104 124502104 A G SNP TBRG1 ENST00000441174 human ensembl 74_37 +1 known silent c.1206 p.S402 0.000 NULL pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 tier1 - - 99 0 0.00 37 39 50.65 126 0 0.00 64 54 45.38 AGXT2 0 genome.wustl.edu 37 5 35025909 35025909 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 35025909 35025909 C T SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.922 p.E308K 0.029 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 tier1 - - 62 0 0.00 55 17 23.61 152 1 0.65 78 28 25.93 AKR1D1 0 genome.wustl.edu 37 7 137801424 137801424 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 137801424 137801424 G A SNP AKR1D1 ENST00000468877 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AKR1D1 HGNC ENSG00000122787 tier1 - - 66 0 0.00 36 16 30.77 97 0 0.00 42 20 32.26 CLSTN2 0 genome.wustl.edu 37 3 140284994 140284994 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 140284994 140284994 G A SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2767 p.E923K 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 51 0 0.00 37 20 35.09 49 0 0.00 38 18 32.14 LOC201651 0 genome.wustl.edu 37 3 151494614 151494614 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 151494614 151494614 C T SNP LOC201651 ENST00000496128 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors RP11-64D22.2 Clone_based_vega_gene ENSG00000240602 tier1 - - 123 0 0.00 87 68 43.87 66 0 0.00 48 32 40.00 OBSCN 0 genome.wustl.edu 37 1 228521410 228521410 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 228521410 228521410 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15983 p.S5328F 0.036 pfam_Ig_I-set,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 73 0 0.00 40 21 34.43 57 0 0.00 37 20 34.48 SGPP1 0 genome.wustl.edu 37 14 64153116 64153116 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 64153116 64153116 G A SNP SGPP1 ENST00000247225 human ensembl 74_37 -1 known missense c.1033 p.P345S 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC ENSG00000126821 tier1 - - 57 0 0.00 70 11 13.58 119 0 0.00 85 33 27.97 SLFN11 0 genome.wustl.edu 37 17 33689777 33689777 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 33689777 33689777 C T SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.1050 p.M350I 0.001 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 tier1 - - 110 0 0.00 12 23 65.71 44 0 0.00 20 20 50.00 WDR65 0 genome.wustl.edu 37 1 43652450 43652450 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 43652450 43652450 C T SNP WDR65 ENST00000528956 human ensembl 74_37 +1 known missense c.1042 p.P348S 1.000 superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 tier1 - - 54 0 0.00 36 38 50.67 92 0 0.00 62 61 49.59 FLT1 0 genome.wustl.edu 37 13 28942759 28942759 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 28942759 28942759 G A SNP FLT1 ENST00000541932 human ensembl 74_37 -1 known missense c.2158 p.P720S 0.001 smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 57 0 0.00 24 11 31.43 81 0 0.00 37 14 27.45 OTOL1 0 genome.wustl.edu 37 3 161221551 161221551 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 161221551 161221551 C T SNP OTOL1 ENST00000327928 human ensembl 74_37 +1 known missense c.1255 p.L419F 0.201 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors OTOL1 HGNC ENSG00000182447 tier1 - - 93 0 0.00 54 39 41.94 133 0 0.00 74 44 37.29 KIAA1551 0 genome.wustl.edu 37 12 32134659 32134659 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 32134659 32134659 C T SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.770 p.P257L 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 34 0 0.00 28 10 26.32 108 0 0.00 77 15 16.30 PAX9 0 genome.wustl.edu 37 14 37131030 37131030 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 37131030 37131030 C T SNP PAX9 ENST00000553267 human ensembl 74_37 +1 putative rna NULL NULL 0.133 - - - no_errors PAX9 HGNC ENSG00000198807 tier1 - - 21 0 0.00 14 6 30.00 45 0 0.00 25 7 21.88 TENM4 0 genome.wustl.edu 37 11 78387281 78387281 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 78387281 78387281 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.5412 p.I1804 0.150 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 129 0 0.00 62 56 47.46 29 0 0.00 15 9 37.50 TEKT1 0 genome.wustl.edu 37 17 6719280 6719280 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 6719280 6719280 C T SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known missense c.358 p.E120K 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 tier1 - - 28 0 0.00 16 13 44.83 64 0 0.00 21 24 53.33 L3MBTL3 0 genome.wustl.edu 37 6 130454605 130454605 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 130454605 130454605 G A SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known missense c.1975 p.E659K 1.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 tier1 - - 45 0 0.00 36 27 42.86 93 1 1.06 45 34 43.04 VRTN 0 genome.wustl.edu 37 14 74824866 74824866 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 74824866 74824866 G A SNP VRTN ENST00000256362 human ensembl 74_37 +1 known silent c.1380 p.G460 0.004 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 tier1 - - 147 0 0.00 64 48 42.86 39 0 0.00 22 19 46.34 ZBTB1 0 genome.wustl.edu 37 14 64988779 64988779 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 64988779 64988779 C T SNP ZBTB1 ENST00000394712 human ensembl 74_37 +1 known missense c.557 p.P186L 0.950 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 tier1 - - 46 0 0.00 34 22 39.29 132 0 0.00 48 48 50.00 IKBIP 0 genome.wustl.edu 37 12 99007548 99007548 + Missense_Mutation SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 99007548 99007548 C G SNP IKBIP ENST00000342502 human ensembl 74_37 -1 known missense c.868 p.D290H 1.000 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 tier1 - - 81 0 0.00 42 21 33.33 118 0 0.00 66 30 31.25 ATP1A2 0 genome.wustl.edu 37 1 160098533 160098533 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 160098533 160098533 C T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.1109 p.T370I 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 tier1 - - 50 0 0.00 23 18 43.90 37 0 0.00 15 15 50.00 DSG4 0 genome.wustl.edu 37 18 28979507 28979507 + Splice_Site SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 28979507 28979507 G A SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known splice_site c.1277+1 e9+1 1.000 - - - no_errors DSG4 HGNC ENSG00000175065 tier1 - - 36 0 0.00 3 10 76.92 90 0 0.00 17 37 68.52 PAX4 0 genome.wustl.edu 37 7 127253567 127253567 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 127253567 127253567 A G SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known silent c.558 p.Y186 0.993 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 tier1 - - 64 0 0.00 22 15 40.54 49 0 0.00 29 7 19.44 ZNF81 0 genome.wustl.edu 37 X 47705688 47705688 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 47705688 47705688 C T SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.22 p.P8S 0.000 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 ZNF81 HGNC ENSG00000197779 tier1 - - 22 0 0.00 2 17 89.47 36 0 0.00 14 20 58.82 DJC13 0 genome.wustl.edu 37 3 132199252 132199252 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 132199252 132199252 A G SNP DJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.2812 p.I938V 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DJC13 HGNC ENSG00000138246 tier1 - - 124 0 0.00 93 56 37.58 159 0 0.00 94 67 41.61 SIK1 0 genome.wustl.edu 37 21 44839074 44839074 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 44839074 44839074 C T SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known missense c.1289 p.R430Q 0.999 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 tier1 rs143953116 - 94 0 0.00 86 29 25.22 19 0 0.00 14 9 39.13 LRRC28 0 genome.wustl.edu 37 15 99892630 99892630 + Missense_Mutation SNP A A C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 99892630 99892630 A C SNP LRRC28 ENST00000301981 human ensembl 74_37 +1 known missense c.649 p.K217Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 tier1 - - 125 0 0.00 61 32 34.41 75 0 0.00 43 26 37.68 PCLO 0 genome.wustl.edu 37 7 82585580 82585580 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 82585580 82585580 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4689 p.M1563I 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 62 0 0.00 26 10 27.78 85 0 0.00 35 8 18.60 EYS 0 genome.wustl.edu 37 6 65531597 65531597 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 65531597 65531597 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.3184 p.E1062K 0.065 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 121 0 0.00 84 40 32.26 67 0 0.00 61 14 18.67 GOLGB1 0 genome.wustl.edu 37 3 121414883 121414883 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 121414883 121414883 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.4472 p.S1491F 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 80 0 0.00 69 22 24.18 108 0 0.00 86 51 37.23 CNTP4 0 genome.wustl.edu 37 16 76587337 76587337 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 76587337 76587337 C T SNP CNTP4 ENST00000307431 human ensembl 74_37 +1 known silent c.3597 p.S1199 1.000 pfscan_Laminin_G 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 CNTP4 HGNC ENSG00000152910 tier1 - - 55 0 0.00 29 17 36.96 50 0 0.00 27 27 50.00 ABCD4 0 genome.wustl.edu 37 14 74756194 74756194 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 74756194 74756194 G A SNP ABCD4 ENST00000356924 human ensembl 74_37 -1 known missense c.1448 p.P483L 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD4 HGNC ENSG00000119688 tier1 - - 88 0 0.00 56 16 22.22 145 0 0.00 99 21 17.50 KIAA0930 0 genome.wustl.edu 37 22 45622164 45622164 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 45622164 45622164 G A SNP KIAA0930 ENST00000417906 human ensembl 74_37 -1 known silent c.165 p.S55 0.038 NULL NULL - no_errors KIAA0930 HGNC ENSG00000100364 tier1 - - 45 0 0.00 18 15 45.45 174 0 0.00 96 40 29.41 HYDIN 0 genome.wustl.edu 37 16 70913257 70913257 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 70913257 70913257 A G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.10500 p.L3500 1.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 65 0 0.00 26 26 50.00 38 0 0.00 20 13 39.39 ENSG00000221653 0 genome.wustl.edu 37 2 59468776 59468776 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 59468776 59468776 C T SNP ENSG00000221653 ENST00000408726 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC007131.3 Clone_based_ensembl_gene ENSG00000221653 tier1 - - 52 0 0.00 35 11 23.91 54 0 0.00 46 10 17.86 LMOD3 0 genome.wustl.edu 37 3 69168854 69168854 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 69168854 69168854 G T SNP LMOD3 ENST00000420581 human ensembl 74_37 -1 known missense c.652 p.P218T 0.995 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 tier1 - - 100 0 0.00 42 40 48.78 126 1 0.79 80 50 38.46 LRP2 0 genome.wustl.edu 37 2 170066148 170066148 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 170066148 170066148 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.6284 p.R2095Q 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 tier1 - - 41 0 0.00 21 11 34.38 115 1 0.86 76 20 20.83 APOBEC3G 0 genome.wustl.edu 37 22 39479792 39479792 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 39479792 39479792 G T SNP APOBEC3G ENST00000407997 human ensembl 74_37 +1 known missense c.638 p.R213I 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 tier1 - - 95 0 0.00 50 32 38.55 119 0 0.00 58 45 43.27 VASH1 0 genome.wustl.edu 37 14 77242323 77242323 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 77242323 77242323 C T SNP VASH1 ENST00000167106 human ensembl 74_37 +1 known silent c.619 p.L207 1.000 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 tier1 - - 73 0 0.00 55 20 26.67 81 1 1.22 80 19 19.00 POTEE 0 genome.wustl.edu 37 2 131976158 131976158 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 131976158 131976158 G T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.183 p.M61I 0.029 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 POTEE HGNC ENSG00000188219 tier1 - - 132 0 0.00 72 37 33.94 22 0 0.00 13 5 27.78 UBIAD1 0 genome.wustl.edu 37 1 11346011 11346011 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 11346011 11346011 C T SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known silent c.840 p.T280 1.000 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 tier1 - - 39 0 0.00 31 10 24.39 148 0 0.00 67 31 31.63 CAC1S 0 genome.wustl.edu 37 1 201012494 201012494 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 201012494 201012494 G A SNP CAC1S ENST00000362061 human ensembl 74_37 -1 known missense c.4963 p.P1655S 0.982 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CAC1S HGNC ENSG00000081248 tier1 - - 81 0 0.00 75 19 20.21 164 0 0.00 98 31 23.66 MROH2B 0 genome.wustl.edu 37 5 41005013 41005013 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 41005013 41005013 C T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.3874 p.E1292K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 48 0 0.00 60 21 25.93 129 1 0.77 168 67 28.51 DAB1 0 genome.wustl.edu 37 1 57480902 57480902 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 57480902 57480902 G A SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known silent c.1197 p.F399 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 tier1 - - 54 0 0.00 50 18 26.09 77 0 0.00 79 28 26.17 MYH15 0 genome.wustl.edu 37 3 108175673 108175673 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 108175673 108175673 C T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.2138 p.G713E 0.837 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,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_D-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 tier1 - - 85 0 0.00 54 41 43.16 117 1 0.85 84 49 36.84 FAT3 0 genome.wustl.edu 37 11 92532163 92532163 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 92532163 92532163 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5984 p.N1995S 0.531 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 70 0 0.00 29 47 61.84 161 0 0.00 54 59 52.21 KTN1 0 genome.wustl.edu 37 14 56137519 56137519 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 56137519 56137519 G A SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.3340 p.E1114K 0.997 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 tier1 - - 163 0 0.00 74 66 47.14 170 0 0.00 76 97 55.75 FRMPD2 0 genome.wustl.edu 37 10 49430373 49430373 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 49430373 49430373 C A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.1438 p.G480C 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 tier1 - - 64 0 0.00 18 20 52.63 136 0 0.00 36 49 57.65 FBXO40 0 genome.wustl.edu 37 3 121340681 121340681 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 121340681 121340681 G A SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known silent c.405 p.K135 1.000 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 tier1 - - 34 0 0.00 31 13 29.55 140 0 0.00 116 41 26.11 RGS22 0 genome.wustl.edu 37 8 101083692 101083692 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 101083692 101083692 G A SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.499 p.P167S 0.995 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 tier1 - - 121 0 0.00 90 36 28.57 125 0 0.00 73 49 40.16 OR52E6 0 genome.wustl.edu 37 11 5862326 5862326 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 5862326 5862326 C T SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known missense c.814 p.D272N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 tier1 - - 68 0 0.00 43 5 10.42 90 0 0.00 78 10 11.36 PRR26 0 genome.wustl.edu 37 10 697090 697090 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 697090 697090 G A SNP PRR26 ENST00000441152 human ensembl 74_37 +1 known missense c.583 p.G195R 0.000 NULL NULL - no_errors PRR26 HGNC ENSG00000180525 tier1 - - 13 0 0.00 12 9 42.86 39 0 0.00 21 17 44.74 BLM 0 genome.wustl.edu 37 15 91292843 91292843 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 91292843 91292843 G A SNP BLM ENST00000355112 human ensembl 74_37 +1 known silent c.345 p.P115 0.000 NULL pfam_RQC_domain,pfam_BDHCT,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_D_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 tier1 - - 78 0 0.00 81 8 8.89 128 1 0.78 104 15 12.61 BAI3 0 genome.wustl.edu 37 6 69728293 69728293 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 69728293 69728293 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2009 p.G670E 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 124 0 0.00 68 28 29.17 78 0 0.00 42 39 47.56 PCNT 0 genome.wustl.edu 37 21 47836529 47836529 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 47836529 47836529 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.6697 p.D2233N 0.992 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 69 0 0.00 50 36 41.86 18 0 0.00 14 2 12.50 PDPR 0 genome.wustl.edu 37 16 70190708 70190708 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 70190708 70190708 T C SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.2566 p.Y856H 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 tier1 - - 69 0 0.00 38 12 24.00 144 0 0.00 116 29 20.00 TTC25 0 genome.wustl.edu 37 17 40091552 40091552 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 40091552 40091552 C T SNP TTC25 ENST00000377540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TTC25 HGNC ENSG00000204815 tier1 - - 52 0 0.00 10 33 76.74 139 0 0.00 36 57 61.29 CCDC60 0 genome.wustl.edu 37 12 119966427 119966427 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 119966427 119966427 G A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.1237 p.E413K 1.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 98 0 0.00 42 20 32.26 112 0 0.00 48 23 32.39 SUN1 0 genome.wustl.edu 37 7 857107 857107 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 857107 857107 C T SNP SUN1 ENST00000457378 human ensembl 74_37 +1 known missense c.14 p.S5F 0.017 NULL pfam_SUN1 - no_errors SUN1 HGNC ENSG00000164828 tier1 - - 107 0 0.00 62 66 51.56 69 0 0.00 40 34 45.95 KLK8 0 genome.wustl.edu 37 19 51503485 51503485 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 51503485 51503485 C T SNP KLK8 ENST00000391806 human ensembl 74_37 -1 known missense c.395 p.S132N 0.997 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 tier1 - - 62 0 0.00 38 21 35.00 110 0 0.00 59 45 43.27 KRT4 0 genome.wustl.edu 37 12 53205637 53205637 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 53205637 53205637 C T SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known missense c.809 p.R270K 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 tier1 - - 64 0 0.00 23 7 23.33 103 0 0.00 50 18 26.47 ENSG00000258559 0 genome.wustl.edu 37 14 74756050 74756050 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 74756050 74756050 G A SNP ENSG00000258559 ENST00000554532 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors AC005519.4 Clone_based_vega_gene ENSG00000258559 tier1 - - 31 0 0.00 15 11 42.31 102 0 0.00 67 59 46.46 KPRP 0 genome.wustl.edu 37 1 152733505 152733505 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 152733505 152733505 C T SNP KPRP ENST00000368773 human ensembl 74_37 +1 known silent c.1441 p.L481 0.000 NULL NULL - no_errors KPRP HGNC ENSG00000203786 tier1 - - 27 0 0.00 24 11 31.43 53 0 0.00 18 8 30.77 MMP1 0 genome.wustl.edu 37 11 102666278 102666278 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 102666278 102666278 G A SNP MMP1 ENST00000315274 human ensembl 74_37 -1 known missense c.686 p.S229F 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP1 HGNC ENSG00000196611 tier1 - - 131 0 0.00 41 38 48.10 146 0 0.00 61 72 54.14 CNTP2 0 genome.wustl.edu 37 7 146825907 146825907 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 146825907 146825907 G A SNP CNTP2 ENST00000361727 human ensembl 74_37 +1 known silent c.1062 p.K354 1.000 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_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,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP2 HGNC ENSG00000174469 tier1 - - 111 1 0.89 59 21 26.25 131 0 0.00 82 16 16.33 RGL4 0 genome.wustl.edu 37 22 24034331 24034331 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 24034331 24034331 G A SNP RGL4 ENST00000290691 human ensembl 74_37 +1 known silent c.114 p.T38 0.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RGL4 HGNC ENSG00000159496 tier1 rs148535347 GMAF=0.0005 37 0 0.00 18 7 28.00 43 0 0.00 28 13 31.71 CECR2 0 genome.wustl.edu 37 22 18028909 18028909 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 18028909 18028909 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.3866 p.S1289L 0.031 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 55 0 0.00 36 26 41.94 103 0 0.00 70 16 18.60 LHCGR 0 genome.wustl.edu 37 2 48950635 48950635 + Nonsense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 48950635 48950635 C A SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known nonsense c.496 p.G166* 1.000 NULL pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 - - 55 0 0.00 41 24 36.92 119 0 0.00 55 56 50.45 CCR4 0 genome.wustl.edu 37 3 32995836 32995836 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 32995836 32995836 G A SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known missense c.922 p.G308R 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 tier1 - - 44 0 0.00 32 10 23.81 116 0 0.00 76 66 46.48 IMPDH1 0 genome.wustl.edu 37 7 128034581 128034581 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 128034581 128034581 G A SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known silent c.1623 p.F541 0.997 pfam_IMP_DH_GMPRt,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 tier1 - - 84 0 0.00 46 18 28.12 16 0 0.00 16 7 30.43 MADD 0 genome.wustl.edu 37 11 47303157 47303157 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 47303157 47303157 C T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.1322 p.P441L 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 tier1 - - 67 0 0.00 27 38 58.46 111 0 0.00 28 57 67.06 AKD1 0 genome.wustl.edu 37 1 109373193 109373193 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 109373193 109373193 C T SNP AKD1 ENST00000370001 human ensembl 74_37 -1 known missense c.1826 p.R609K 0.000 NULL pfam_TF_AT-hook - no_errors AKD1 HGNC ENSG00000162641 tier1 - - 25 0 0.00 38 7 15.56 87 0 0.00 61 9 12.86 SCNN1G 0 genome.wustl.edu 37 16 23197733 23197733 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 23197733 23197733 C T SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known silent c.141 p.S47 0.998 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 - - 44 0 0.00 28 12 30.00 65 0 0.00 38 18 32.14 OR6A2 0 genome.wustl.edu 37 11 6816613 6816613 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 6816613 6816613 G A SNP OR6A2 ENST00000332601 human ensembl 74_37 -1 known silent c.327 p.F109 0.497 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 OR6A2 HGNC ENSG00000184933 tier1 - - 25 0 0.00 11 17 60.71 93 0 0.00 29 50 62.50 TRIM71 0 genome.wustl.edu 37 3 32932838 32932838 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 32932838 32932838 C T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known silent c.2142 p.I714 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 tier1 - - 47 0 0.00 28 18 39.13 121 0 0.00 116 44 27.50 TIGD7 0 genome.wustl.edu 37 16 3350197 3350197 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 3350197 3350197 C T SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.418 p.G140R 0.993 pfam_HTH_CenpB_D-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_D-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_D-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 tier1 - - 58 0 0.00 59 32 35.16 137 0 0.00 92 61 39.87 GPATCH2L 0 genome.wustl.edu 37 14 76620781 76620781 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 76620781 76620781 G A SNP GPATCH2L ENST00000261530 human ensembl 74_37 +1 known nonsense c.75 p.W25* 1.000 NULL NULL - no_errors GPATCH2L HGNC ENSG00000089916 tier1 - - 40 0 0.00 18 17 48.57 44 0 0.00 30 34 52.31 MIR497HG 0 genome.wustl.edu 37 17 6920345 6920345 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 6920345 6920345 C T SNP MIR497HG ENST00000572453 human ensembl 74_37 -1 known rna NULL NULL 0.486 - - - no_errors MIR497HG HGNC ENSG00000267532 tier1 - - 19 0 0.00 3 9 75.00 136 0 0.00 24 52 67.53 OR2M7 0 genome.wustl.edu 37 1 248487739 248487739 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 248487739 248487739 G A SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known silent c.132 p.I44 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 tier1 - - 141 0 0.00 69 40 36.36 44 0 0.00 38 18 32.14 ABCA7 0 genome.wustl.edu 37 19 1048895 1048895 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 1048895 1048895 C T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known silent c.2271 p.G757 0.998 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 tier1 - - 153 0 0.00 45 103 69.59 68 0 0.00 22 54 71.05 SGPP1 0 genome.wustl.edu 37 14 64153115 64153115 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 64153115 64153115 G A SNP SGPP1 ENST00000247225 human ensembl 74_37 -1 known missense c.1034 p.P345L 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC ENSG00000126821 tier1 - - 55 0 0.00 69 10 12.66 117 0 0.00 85 33 27.73 LRRC30 0 genome.wustl.edu 37 18 7231500 7231500 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 7231500 7231500 C T SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known silent c.364 p.L122 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 53 0 0.00 20 27 57.45 109 0 0.00 32 52 61.90 MCTP1 0 genome.wustl.edu 37 5 94275850 94275850 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 94275850 94275850 C T SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known missense c.1111 p.D371N 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 tier1 - - 72 0 0.00 16 35 68.63 121 0 0.00 26 40 60.61 ZSWIM3 0 genome.wustl.edu 37 20 44506223 44506223 + Silent SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 44506223 44506223 T C SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known silent c.1026 p.T342 0.980 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 tier1 - - 36 0 0.00 30 14 31.82 121 0 0.00 86 54 38.57 VWC2L 0 genome.wustl.edu 37 2 215279262 215279262 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 215279262 215279262 C T SNP VWC2L ENST00000312504 human ensembl 74_37 +1 known silent c.345 p.F115 1.000 pfscan_VWF_C smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 tier1 - - 76 0 0.00 40 28 41.18 111 0 0.00 43 41 48.81 BECN1 0 genome.wustl.edu 37 17 40963737 40963737 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 40963737 40963737 C T SNP BECN1 ENST00000361523 human ensembl 74_37 -1 known missense c.1120 p.D374N 1.000 pfam_Beclin_fam pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC ENSG00000126581 tier1 - - 83 0 0.00 15 34 69.39 146 0 0.00 36 62 62.63 MYO3B 0 genome.wustl.edu 37 2 171256745 171256745 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 171256745 171256745 G A SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known silent c.1866 p.G622 0.998 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 tier1 - - 104 0 0.00 44 38 46.34 115 0 0.00 58 45 43.69 LRRIQ3 0 genome.wustl.edu 37 1 74507223 74507223 + Missense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 74507223 74507223 T A SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1392 p.K464N 0.840 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 56 0 0.00 53 11 17.19 64 0 0.00 54 10 15.62 ADD2 0 genome.wustl.edu 37 2 70890802 70890802 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 70890802 70890802 C T SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.1936 p.G646R 0.952 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 tier1 - - 47 0 0.00 35 10 22.22 116 0 0.00 91 21 18.75 ENPP5 0 genome.wustl.edu 37 6 46129190 46129190 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 46129190 46129190 C T SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known missense c.1307 p.G436E 0.999 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 tier1 - - 84 0 0.00 60 32 34.78 113 0 0.00 74 33 30.84 FBXL7 0 genome.wustl.edu 37 5 15937163 15937163 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 15937163 15937163 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.1344 p.I448 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 tier1 - - 31 0 0.00 12 16 57.14 26 0 0.00 14 19 57.58 GPR68 0 genome.wustl.edu 37 14 91701269 91701269 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 91701269 91701269 G A SNP GPR68 ENST00000238699 human ensembl 74_37 -1 known silent c.156 p.S52 0.508 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 tier1 - - 26 0 0.00 17 10 37.04 57 0 0.00 46 14 23.33 OR10T2 0 genome.wustl.edu 37 1 158369023 158369023 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 158369023 158369023 G A SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known silent c.234 p.I78 0.664 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 tier1 - - 43 0 0.00 27 9 25.00 111 0 0.00 49 15 23.08 ZFHX2 0 genome.wustl.edu 37 14 23994312 23994312 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 23994312 23994312 G A SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known silent c.4839 p.F1613 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 - - 57 0 0.00 31 24 43.64 84 0 0.00 65 36 35.64 NLRP4 0 genome.wustl.edu 37 19 56382299 56382299 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 56382299 56382299 G A SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.2461 p.D821N 0.003 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP4 HGNC ENSG00000160505 tier1 - - 42 0 0.00 17 5 22.73 74 0 0.00 56 20 26.32 TTN 0 genome.wustl.edu 37 2 179637975 179637975 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179637975 179637975 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.7716 p.I2572 0.879 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub 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 - - 91 0 0.00 34 33 49.25 118 0 0.00 60 34 35.79 SCN11A 0 genome.wustl.edu 37 3 38888901 38888901 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 38888901 38888901 C T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.4660 p.D1554N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 50 0 0.00 50 18 26.47 104 0 0.00 55 27 32.93 ATP8A1 0 genome.wustl.edu 37 4 42577716 42577716 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 42577716 42577716 C T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.1129 p.D377N 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 121 0 0.00 25 44 63.77 105 0 0.00 46 47 50.00 MCTP2 0 genome.wustl.edu 37 15 94945773 94945773 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 94945773 94945773 G A SNP MCTP2 ENST00000331706 human ensembl 74_37 +1 known missense c.908 p.G303D 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 tier1 - - 37 0 0.00 28 16 36.36 104 0 0.00 53 33 38.37 VGLL2 0 genome.wustl.edu 37 6 117589462 117589462 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 117589462 117589462 G A SNP VGLL2 ENST00000326274 human ensembl 74_37 +1 known missense c.199 p.E67K 1.000 NULL pfam_Vg_Tdu - no_errors VGLL2 HGNC ENSG00000170162 tier1 - - 118 0 0.00 59 24 28.92 61 0 0.00 39 26 40.00 ZNF451 0 genome.wustl.edu 37 6 57017092 57017092 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 57017092 57017092 C T SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known silent c.2826 p.F942 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 tier1 - - 143 0 0.00 81 19 19.00 91 0 0.00 60 22 26.19 PDSS2 0 genome.wustl.edu 37 6 107585650 107585650 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 107585650 107585650 A G SNP PDSS2 ENST00000369031 human ensembl 74_37 -1 known missense c.697 p.S233P 0.008 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC ENSG00000164494 tier1 - - 57 0 0.00 31 16 34.04 107 0 0.00 57 27 32.14 SEZ6L 0 genome.wustl.edu 37 22 26709777 26709777 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 26709777 26709777 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.1924 p.P642S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 - - 82 0 0.00 65 23 26.14 146 1 0.68 71 34 32.38 CTN2 0 genome.wustl.edu 37 2 80835423 80835423 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 80835423 80835423 G A SNP CTN2 ENST00000361291 human ensembl 74_37 +1 known missense c.2512 p.G838R 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN2 HGNC ENSG00000066032 tier1 - - 53 0 0.00 41 22 34.92 128 0 0.00 67 38 36.19 ADCK3 0 genome.wustl.edu 37 1 227171228 227171228 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 227171228 227171228 C T SNP ADCK3 ENST00000478406 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADCK3 HGNC ENSG00000163050 tier1 - - 23 0 0.00 14 5 26.32 77 0 0.00 35 17 32.69 PVRL2 0 genome.wustl.edu 37 19 45375161 45375161 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 45375161 45375161 C T SNP PVRL2 ENST00000252483 human ensembl 74_37 +1 known missense c.530 p.P177L 0.040 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 tier1 - - 53 0 0.00 35 15 30.00 74 0 0.00 52 24 31.58 PTPRD 0 genome.wustl.edu 37 9 8404648 8404648 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 8404648 8404648 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.4099 p.G1367S 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 89 0 0.00 21 18 46.15 151 0 0.00 52 38 41.76 SEMA6A 0 genome.wustl.edu 37 5 115782667 115782667 + Missense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 115782667 115782667 T A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2786 p.Y929F 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 tier1 - - 39 0 0.00 8 10 55.56 114 0 0.00 28 28 50.00 MORC1 0 genome.wustl.edu 37 3 108698393 108698393 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 108698393 108698393 C T SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.2446 p.E816K 0.998 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 51 0 0.00 40 20 33.33 100 0 0.00 69 41 37.27 MGAM 0 genome.wustl.edu 37 7 141705366 141705366 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 141705366 141705366 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.36 p.L12 0.888 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 103 0 0.00 43 19 30.65 79 1 1.25 52 18 25.35 FUT9 0 genome.wustl.edu 37 6 96651363 96651363 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 96651363 96651363 G A SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.332 p.R111Q 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 tier1 - - 45 0 0.00 18 33 64.71 66 0 0.00 36 41 51.90 NRAS 0 genome.wustl.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 115256529 115256529 T A SNP NRAS ENST00000369535 human ensembl 74_37 -1 known missense c.182 p.Q61L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC ENSG00000213281 tier1 rs11554290 - 107 0 0.00 59 56 48.70 147 0 0.00 60 74 54.41 RALGAPB 0 genome.wustl.edu 37 20 37150191 37150191 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 37150191 37150191 C T SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.1469 p.S490F 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 tier1 - - 95 0 0.00 74 32 30.19 136 0 0.00 84 48 36.36 PTPRA 0 genome.wustl.edu 37 20 3016353 3016353 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 3016353 3016353 C T SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known silent c.2076 p.T692 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 tier1 - - 77 0 0.00 57 38 40.00 111 0 0.00 79 36 31.30 DH8 0 genome.wustl.edu 37 6 38877410 38877410 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 38877410 38877410 C T SNP DH8 ENST00000359357 human ensembl 74_37 +1 known silent c.8979 p.F2993 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 75 0 0.00 26 26 50.00 106 0 0.00 36 32 47.06 CADM2 0 genome.wustl.edu 37 3 85851283 85851283 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 85851283 85851283 G A SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known missense c.154 p.D52N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 tier1 - - 52 0 0.00 32 39 54.93 123 0 0.00 81 62 43.36 ROBO2 0 genome.wustl.edu 37 3 77542416 77542416 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 77542416 77542416 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.689 p.R230K 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom 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 ROBO2 HGNC ENSG00000185008 tier1 - - 62 0 0.00 48 23 32.39 91 0 0.00 75 26 25.74 TNR 0 genome.wustl.edu 37 1 175365934 175365934 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 175365934 175365934 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.986 p.P329L 1.000 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_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 42 0 0.00 18 11 37.93 87 0 0.00 38 25 39.68 KDM5C 0 genome.wustl.edu 37 X 53222217 53222217 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 53222217 53222217 G A SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.4615 p.P1539S 0.861 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_D-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_D-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_D-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_D-bd - no_errors KDM5C HGNC ENSG00000126012 tier1 - - 43 0 0.00 4 31 88.57 28 0 0.00 12 27 69.23 ESYT3 0 genome.wustl.edu 37 3 138183346 138183346 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 138183346 138183346 G A SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known missense c.1075 p.E359K 0.998 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 tier1 - - 36 0 0.00 16 11 40.74 116 0 0.00 84 82 49.40 COL4A4 0 genome.wustl.edu 37 2 227927264 227927264 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 227927264 227927264 C T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.2038 p.G680S 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 tier1 - - 118 0 0.00 56 14 20.00 76 0 0.00 53 13 19.70 FRMPD2 0 genome.wustl.edu 37 10 49430457 49430457 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 49430457 49430457 G A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.1354 p.R452W 0.985 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 tier1 rs141989722 - 70 0 0.00 29 20 40.00 143 0 0.00 24 57 70.37 MTERFD2 0 genome.wustl.edu 37 2 242039046 242039046 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 242039046 242039046 G A SNP MTERFD2 ENST00000241527 human ensembl 74_37 -1 known silent c.285 p.V95 0.000 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD2 HGNC ENSG00000122085 tier1 - - 38 0 0.00 22 16 42.11 102 0 0.00 38 17 30.91 ABCC8 0 genome.wustl.edu 37 11 17429953 17429953 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 17429953 17429953 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known nonsense c.2809 p.Q937* 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 49 0 0.00 17 20 54.05 126 0 0.00 39 61 61.00 FSIP2 0 genome.wustl.edu 37 2 186657368 186657368 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 186657368 186657368 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.5772 p.S1924 0.980 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 119 0 0.00 75 31 29.25 154 0 0.00 91 24 20.87 SIPA1L2 0 genome.wustl.edu 37 1 232568109 232568109 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 232568109 232568109 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.4140 p.P1380 0.003 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 60 0 0.00 42 20 32.26 130 0 0.00 51 39 43.33 CCDC33 0 genome.wustl.edu 37 15 74510900 74510900 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 74510900 74510900 G A SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.373 p.E125K 0.009 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 tier1 - - 52 0 0.00 21 31 59.62 25 0 0.00 19 16 45.71 CAC1C-AS1 0 genome.wustl.edu 37 12 2786885 2786885 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 2786885 2786885 C T SNP CAC1C-AS1 ENST00000501371 human ensembl 74_37 -1 known rna NULL NULL 0.156 - - - no_errors CAC1C-AS1 HGNC ENSG00000246627 tier1 - - 92 0 0.00 75 15 16.67 70 0 0.00 69 18 20.69 ZNF385B 0 genome.wustl.edu 37 2 180348039 180348039 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 180348039 180348039 G A SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known silent c.630 p.C210 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 tier1 - - 88 0 0.00 91 26 22.22 144 0 0.00 70 22 23.91 GPR98 0 genome.wustl.edu 37 5 89936636 89936636 + R SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 89936636 89936636 T A SNP GPR98 ENST00000512205 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 80 0 0.00 22 30 57.69 142 0 0.00 26 36 58.06 PTPRCAP 0 genome.wustl.edu 37 11 67203474 67203474 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 67203474 67203474 G A SNP PTPRCAP ENST00000326294 human ensembl 74_37 -1 known silent c.351 p.H117 0.000 pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP - no_errors PTPRCAP HGNC ENSG00000213402 tier1 - - 32 0 0.00 38 17 30.91 52 0 0.00 31 18 36.73 WDR70 0 genome.wustl.edu 37 5 37752596 37752596 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 37752596 37752596 C T SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.1886 p.P629L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 tier1 - - 98 0 0.00 90 23 20.35 89 0 0.00 55 17 23.61 LRP1B 0 genome.wustl.edu 37 2 141232776 141232776 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 141232776 141232776 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9556 p.R3186C 0.994 superfamily_Growth_fac_rcpt_N_dom,smart_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 - - 49 0 0.00 41 12 22.64 75 0 0.00 67 16 19.28 LILRB4 0 genome.wustl.edu 37 19 55177330 55177330 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 55177330 55177330 C T SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.822 p.L274 0.009 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 tier1 - - 37 0 0.00 18 7 28.00 45 0 0.00 32 8 20.00 OR10G9 0 genome.wustl.edu 37 11 123894401 123894401 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 123894401 123894401 C T SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.682 p.H228Y 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 tier1 - - 98 0 0.00 65 16 19.75 15 0 0.00 19 4 17.39 CARD11 0 genome.wustl.edu 37 7 2987421 2987421 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 2987421 2987421 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.8 p.G3E 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 tier1 - - 67 0 0.00 30 36 54.55 110 0 0.00 63 46 42.20 COG7 0 genome.wustl.edu 37 16 23457242 23457242 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 23457242 23457242 G A SNP COG7 ENST00000307149 human ensembl 74_37 -1 known silent c.210 p.L70 0.972 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 tier1 - - 86 0 0.00 47 24 33.80 51 0 0.00 39 22 36.07 SERPI3 0 genome.wustl.edu 37 14 95085653 95085653 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 95085653 95085653 G A SNP SERPI3 ENST00000393078 human ensembl 74_37 +1 known silent c.765 p.R255 0.970 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI3 HGNC ENSG00000196136 tier1 - - 63 0 0.00 38 22 36.67 84 0 0.00 38 35 47.95 P2RY10 0 genome.wustl.edu 37 X 78216519 78216519 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 78216519 78216519 C T SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.502 p.P168S 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 tier1 - - 29 0 0.00 7 16 69.57 67 0 0.00 25 43 63.24 MAPK3 0 genome.wustl.edu 37 16 30129061 30129061 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 30129061 30129061 C T SNP MAPK3 ENST00000263025 human ensembl 74_37 -1 known silent c.705 p.L235 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,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 - - 39 0 0.00 39 22 36.07 114 0 0.00 80 52 39.39 HAS2 0 genome.wustl.edu 37 8 122629392 122629392 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 122629392 122629392 C T SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known missense c.682 p.V228I 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 tier1 - - 66 0 0.00 79 22 21.78 111 0 0.00 156 33 17.46 ANK3 0 genome.wustl.edu 37 10 61955932 61955932 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 61955932 61955932 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known nonsense c.1858 p.Q620* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 72 0 0.00 18 41 69.49 130 0 0.00 26 60 69.77 SRSF11 0 genome.wustl.edu 37 1 70705161 70705161 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 70705161 70705161 C T SNP SRSF11 ENST00000370950 human ensembl 74_37 +1 known missense c.758 p.S253L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 tier1 - - 92 0 0.00 48 59 55.14 92 0 0.00 57 53 48.18 CHRND 0 genome.wustl.edu 37 2 233396255 233396255 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 233396255 233396255 C T SNP CHRND ENST00000258385 human ensembl 74_37 +1 known silent c.936 p.F312 0.997 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 - - 36 0 0.00 19 11 36.67 74 0 0.00 42 8 16.00 TMCO5B 0 genome.wustl.edu 37 15 33528900 33528900 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 33528900 33528900 G A SNP TMCO5B ENST00000529696 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors TMCO5B HGNC ENSG00000215296 tier1 - - 61 0 0.00 15 20 57.14 141 0 0.00 31 37 54.41 CSMD1 0 genome.wustl.edu 37 8 3087730 3087730 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 3087730 3087730 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4180 p.D1394N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 62 0 0.00 23 32 58.18 154 0 0.00 28 52 65.00 CHD2 0 genome.wustl.edu 37 15 93528762 93528762 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 93528762 93528762 C A SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.3272 p.S1091Y 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 57 0 0.00 36 11 23.40 58 0 0.00 25 14 35.90 TTN 0 genome.wustl.edu 37 2 179451983 179451983 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179451983 179451983 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.56251 p.E18751K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 47 0 0.00 25 7 21.88 160 0 0.00 77 27 25.96 DHX35 0 genome.wustl.edu 37 20 37650563 37650563 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 37650563 37650563 C T SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known silent c.1578 p.N526 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 tier1 - - 82 0 0.00 49 39 44.32 110 0 0.00 90 42 31.82 PRKCB 0 genome.wustl.edu 37 16 24226094 24226094 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 24226094 24226094 C T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.1979 p.S660F 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 59 0 0.00 26 16 38.10 68 0 0.00 47 38 44.71 UTP14C 0 genome.wustl.edu 37 13 52603205 52603205 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 52603205 52603205 C T SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known silent c.265 p.L89 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 tier1 - - 88 0 0.00 48 18 27.27 95 0 0.00 73 16 17.98 EXTL3 0 genome.wustl.edu 37 8 28600611 28600611 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 28600611 28600611 C T SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known silent c.2430 p.A810 1.000 pfam_Hexc_Trfase_a pfam_Hexc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 tier1 - - 92 0 0.00 21 26 55.32 81 0 0.00 16 15 48.39 TAF1L 0 genome.wustl.edu 37 9 32632221 32632221 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 32632221 32632221 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3357 p.M1119I 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 108 0 0.00 69 24 25.81 68 0 0.00 39 15 27.78 SRC 0 genome.wustl.edu 37 20 36031953 36031953 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 36031953 36031953 G A SNP SRC ENST00000477066 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SRC HGNC ENSG00000197122 tier1 - - 13 0 0.00 17 7 29.17 65 0 0.00 45 20 30.77 AMY1C 0 genome.wustl.edu 37 1 104297431 104297431 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 104297431 104297431 G A SNP AMY1C ENST00000370079 human ensembl 74_37 +1 known missense c.1096 p.G366R 1.000 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1C HGNC ENSG00000187733 tier1 - - 171 0 0.00 154 25 13.97 35 0 0.00 26 4 13.33 TP63 0 genome.wustl.edu 37 3 189587175 189587175 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 189587175 189587175 G A SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.1192 p.D398N 1.000 pfam_p53_tetrameristn,superfamily_p53_tetrameristn pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_D-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 tier1 - - 142 0 0.00 88 59 40.14 136 0 0.00 74 55 42.64 DMXL2 0 genome.wustl.edu 37 15 51773074 51773074 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 51773074 51773074 G A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.6229 p.L2077F 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 46 0 0.00 14 14 50.00 83 0 0.00 29 15 34.09 BAI2 0 genome.wustl.edu 37 1 32196593 32196593 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 32196593 32196593 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known silent c.4188 p.P1396 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 130 0 0.00 59 93 61.18 46 0 0.00 29 21 42.00 INO80D 0 genome.wustl.edu 37 2 206870122 206870122 + Nonsense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 206870122 206870122 A T SNP INO80D ENST00000403263 human ensembl 74_37 -1 known nonsense c.2054 p.L685* 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 tier1 - - 78 0 0.00 36 22 37.93 127 1 0.78 62 43 40.95 CCDC144NL 0 genome.wustl.edu 37 17 20796722 20796722 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 20796722 20796722 G A SNP CCDC144NL ENST00000327925 human ensembl 74_37 -1 known missense c.398 p.P133L 0.036 NULL NULL - no_errors CCDC144NL HGNC ENSG00000205212 tier1 - - 234 0 0.00 86 111 56.35 81 0 0.00 38 43 52.44 GPLD1 0 genome.wustl.edu 37 6 24447086 24447086 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 24447086 24447086 C T SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known silent c.1800 p.P600 0.011 smart_Int_alpha_beta-p pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 tier1 - - 60 0 0.00 39 26 40.00 88 0 0.00 68 15 18.07 KMT2B 0 genome.wustl.edu 37 19 36219715 36219715 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 36219715 36219715 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.4612 p.H1538Y 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 52 0 0.00 24 16 40.00 86 0 0.00 42 30 40.54 KCNMB2 0 genome.wustl.edu 37 3 178543388 178543388 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 178543388 178543388 G A SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known silent c.69 p.Q23 1.000 pfam_KCNMB2_ball_chain_dom pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 tier1 - - 87 0 0.00 58 43 42.57 96 0 0.00 56 25 30.86 SLC12A5 0 genome.wustl.edu 37 20 44664104 44664104 + Missense_Mutation SNP A A C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 44664104 44664104 A C SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.278 p.N93T 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 54 0 0.00 36 14 28.00 67 0 0.00 48 19 28.36 SDR42E1 0 genome.wustl.edu 37 16 82032828 82032828 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 82032828 82032828 C T SNP SDR42E1 ENST00000328945 human ensembl 74_37 -1 known missense c.1070 p.R357K 0.313 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_D-bd,pfam_Polysac_CapD-like - no_errors SDR42E1 HGNC ENSG00000184860 tier1 - - 56 0 0.00 39 24 38.10 169 0 0.00 88 55 38.46 ATG4B 0 genome.wustl.edu 37 2 242610849 242610849 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 242610849 242610849 C T SNP ATG4B ENST00000402096 human ensembl 74_37 +1 known silent c.915 p.S305 0.000 NULL pfam_Peptidase_C54 - no_errors ATG4B HGNC ENSG00000168397 tier1 - - 137 0 0.00 101 12 10.62 103 0 0.00 51 11 17.74 FRY 0 genome.wustl.edu 37 13 32798510 32798510 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 32798510 32798510 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.4904 p.G1635E 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 74 0 0.00 38 22 36.67 116 1 0.85 56 25 30.86 LMTK2 0 genome.wustl.edu 37 7 97833498 97833498 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 97833498 97833498 G A SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.4483 p.G1495R 1.000 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 tier1 - - 41 0 0.00 26 5 16.13 52 0 0.00 32 7 17.95 TAS1R2 0 genome.wustl.edu 37 1 19166798 19166798 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 19166798 19166798 G A SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel silent c.1815 p.F605 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 tier1 - - 27 0 0.00 23 7 23.33 96 0 0.00 68 11 13.92 PACRG 0 genome.wustl.edu 37 6 163235240 163235240 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 163235240 163235240 G A SNP PACRG ENST00000337019 human ensembl 74_37 +1 known missense c.218 p.R73Q 1.000 pfam_Parkin_co-regulated_protein pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 tier1 - - 168 0 0.00 84 57 39.86 171 0 0.00 61 45 42.45 SSC5D 0 genome.wustl.edu 37 19 56029824 56029824 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 56029824 56029824 C T SNP SSC5D ENST00000389623 human ensembl 74_37 +1 known missense c.4181 p.S1394F 0.316 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SSC5D HGNC ENSG00000179954 tier1 - - 74 0 0.00 51 23 31.08 84 0 0.00 62 16 20.51 ALAS1 0 genome.wustl.edu 37 3 52237962 52237962 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 52237962 52237962 C T SNP ALAS1 ENST00000310271 human ensembl 74_37 +1 known nonsense c.511 p.Q171* 1.000 NULL pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 tier1 - - 99 0 0.00 76 36 32.14 108 0 0.00 94 48 33.57 EEPD1 0 genome.wustl.edu 37 7 36324296 36324296 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 36324296 36324296 G T SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known missense c.1043 p.G348V 0.934 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_D-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 tier1 - - 74 0 0.00 46 47 50.00 44 0 0.00 18 15 45.45 TNNT2 0 genome.wustl.edu 37 1 201328204 201328204 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 201328204 201328204 G A SNP TNNT2 ENST00000460780 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors TNNT2 HGNC ENSG00000118194 tier1 - - 26 0 0.00 11 8 42.11 51 1 1.92 16 12 42.86 VWCE 0 genome.wustl.edu 37 11 61026600 61026600 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 61026600 61026600 C T SNP VWCE ENST00000335613 human ensembl 74_37 -1 known silent c.2415 p.T805 0.000 NULL pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 tier1 rs148487281 GMAF=0.0005 82 0 0.00 45 52 53.61 82 0 0.00 27 33 55.00 PPP1R12B 0 genome.wustl.edu 37 1 202544234 202544234 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 202544234 202544234 C T SNP PPP1R12B ENST00000367270 human ensembl 74_37 +1 known silent c.645 p.S215 0.999 NULL NULL - no_errors PPP1R12B HGNC ENSG00000077157 tier1 - - 31 0 0.00 15 13 46.43 98 0 0.00 41 20 32.79 CCDC27 0 genome.wustl.edu 37 1 3669289 3669289 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 3669289 3669289 G A SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known missense c.244 p.E82K 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 tier1 - - 58 0 0.00 45 37 44.58 51 0 0.00 29 24 45.28 PLCB1 0 genome.wustl.edu 37 20 8722148 8722148 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 8722148 8722148 G A SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known silent c.2451 p.V817 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 110 0 0.00 84 30 26.32 105 0 0.00 102 48 32.00 KCNH5 0 genome.wustl.edu 37 14 63246479 63246479 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 63246479 63246479 C T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known silent c.1986 p.R662 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 tier1 - - 82 0 0.00 57 23 28.75 138 0 0.00 102 15 12.82 FAM84A 0 genome.wustl.edu 37 2 14789596 14789596 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 14789596 14789596 C T SNP FAM84A ENST00000497769 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors FAM84A HGNC ENSG00000162981 tier1 - - 49 0 0.00 19 20 51.28 154 0 0.00 72 52 41.94 HSPA2 0 genome.wustl.edu 37 14 65008993 65008993 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 65008993 65008993 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known nonsense c.1426 p.Q476* 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 tier1 - - 75 0 0.00 42 36 46.15 136 0 0.00 83 48 36.36 SCEL 0 genome.wustl.edu 37 13 78130762 78130762 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 78130762 78130762 G A SNP SCEL ENST00000349847 human ensembl 74_37 +1 known silent c.75 p.R25 0.060 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 tier1 - - 57 0 0.00 19 10 34.48 85 0 0.00 32 19 37.25 TRANK1 0 genome.wustl.edu 37 3 36875281 36875281 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 36875281 36875281 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known silent c.5661 p.L1887 0.995 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 43 0 0.00 24 11 31.43 116 0 0.00 39 50 56.18 SNORD3D 0 genome.wustl.edu 37 17 19015639 19015639 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 19015639 19015639 C T SNP SNORD3D ENST00000573866 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors SNORD3D HGNC ENSG00000262202 tier1 - - 114 0 0.00 39 17 30.36 179 0 0.00 105 17 13.93 SEZ6L 0 genome.wustl.edu 37 22 26743809 26743809 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 26743809 26743809 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.2337 p.I779 0.995 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 rs141377957 GMAF=0.0005 170 0 0.00 96 49 33.79 109 0 0.00 58 29 33.33 EGOT 0 genome.wustl.edu 37 3 4792929 4792929 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 4792929 4792929 C T SNP EGOT ENST00000414938 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EGOT HGNC ENSG00000235947 tier1 - - 26 0 0.00 17 5 22.73 83 0 0.00 79 22 21.78 DH7 0 genome.wustl.edu 37 2 196746610 196746610 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 196746610 196746610 C T SNP DH7 ENST00000312428 human ensembl 74_37 -1 known missense c.5870 p.R1957Q 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DH7 HGNC ENSG00000118997 tier1 rs200790432 - 101 0 0.00 60 17 22.08 84 0 0.00 64 20 23.81 FSIP2 0 genome.wustl.edu 37 2 186678369 186678369 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 186678369 186678369 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.20192 p.R6731Q 0.931 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 133 0 0.00 84 17 16.83 117 0 0.00 67 26 27.96 SCNN1B 0 genome.wustl.edu 37 16 23382662 23382662 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 23382662 23382662 C T SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known missense c.1058 p.P353L 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 tier1 - - 60 0 0.00 36 19 34.55 60 0 0.00 51 20 28.17 MYO1B 0 genome.wustl.edu 37 2 192279346 192279346 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 192279346 192279346 T C SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.3110 p.V1037A 0.997 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 tier1 - - 74 0 0.00 53 12 18.46 103 1 0.96 68 20 22.73 CAPN8 0 genome.wustl.edu 37 1 223813569 223813569 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 223813569 223813569 C T SNP CAPN8 ENST00000366872 human ensembl 74_37 -1 known missense c.751 p.E251K 0.991 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 tier1 - - 43 0 0.00 31 10 24.39 92 0 0.00 37 9 19.57 POLR1B 0 genome.wustl.edu 37 2 113333219 113333219 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 113333219 113333219 C T SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known silent c.3435 p.I1145 0.282 pfam_R_pol_Rpb2_7 pfam_D-dir_R_pol_su2_6,pfam_R_pol_bsu_protrusion,pfam_R_pol_Rpb2_3,pfam_R_pol_Rpb2_7,pfam_R_pol_Rpa2-specific,pfam_R_pol_Rpb2_2,pfam_R_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 tier1 - - 89 0 0.00 26 27 50.94 96 0 0.00 50 19 27.54 TEX30 0 genome.wustl.edu 37 13 103421774 103421774 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 103421774 103421774 G A SNP TEX30 ENST00000376032 human ensembl 74_37 -1 known missense c.133 p.P45S 1.000 NULL pfam_Dienelactn_hydro - no_errors TEX30 HGNC ENSG00000151287 tier1 - - 93 0 0.00 51 34 40.00 118 0 0.00 32 20 37.74 MYLK3 0 genome.wustl.edu 37 16 46781686 46781686 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 46781686 46781686 G A SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known silent c.420 p.F140 0.998 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 - no_errors MYLK3 HGNC ENSG00000140795 tier1 - - 78 0 0.00 56 29 33.72 90 0 0.00 42 11 20.75 SP140 0 genome.wustl.edu 37 2 231103630 231103630 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 231103630 231103630 G A SNP SP140 ENST00000538494 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SP140 HGNC ENSG00000079263 tier1 - - 39 0 0.00 40 13 24.53 103 0 0.00 40 22 35.48 CLEC16A 0 genome.wustl.edu 37 16 11217640 11217640 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 11217640 11217640 G A SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known silent c.2310 p.L770 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 tier1 - - 21 0 0.00 13 8 38.10 86 0 0.00 57 20 25.97 ZCCHC2 0 genome.wustl.edu 37 18 60241712 60241712 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 60241712 60241712 C T SNP ZCCHC2 ENST00000269499 human ensembl 74_37 +1 known missense c.2398 p.L800F 1.000 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 tier1 - - 49 0 0.00 20 27 57.45 162 0 0.00 33 84 71.79 TMCO5B 0 genome.wustl.edu 37 15 33528899 33528899 + R SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 33528899 33528899 A G SNP TMCO5B ENST00000529696 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors TMCO5B HGNC ENSG00000215296 tier1 - - 61 0 0.00 16 19 52.78 141 0 0.00 32 37 53.62 ITGAD 0 genome.wustl.edu 37 16 31434740 31434740 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 31434740 31434740 G A SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.2927 p.G976E 0.001 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 61 0 0.00 36 24 40.00 98 1 1.01 39 43 52.44 XPO4 0 genome.wustl.edu 37 13 21373400 21373400 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 21373400 21373400 G A SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known silent c.2226 p.F742 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 tier1 - - 68 0 0.00 37 19 33.93 135 0 0.00 59 44 42.72 ASPH 0 genome.wustl.edu 37 8 62559369 62559369 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 62559369 62559369 G A SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.559 p.L187F 0.002 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 tier1 - - 86 0 0.00 73 31 29.81 91 0 0.00 59 25 29.76 LRP1B 0 genome.wustl.edu 37 2 140992434 140992434 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 140992434 140992434 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13580 p.G4527E 1.000 NULL 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 - - 127 0 0.00 72 36 33.33 140 0 0.00 68 45 39.82 HTR4 0 genome.wustl.edu 37 5 147889037 147889037 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 147889037 147889037 C T SNP HTR4 ENST00000360693 human ensembl 74_37 -1 known missense c.1058 p.G353E 1.000 prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 tier1 - - 66 0 0.00 23 13 36.11 163 0 0.00 42 48 53.33 C10orf120 0 genome.wustl.edu 37 10 124457412 124457412 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 124457412 124457412 C T SNP C10orf120 ENST00000329446 human ensembl 74_37 -1 known missense c.845 p.R282Q 0.128 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 tier1 - - 71 0 0.00 24 43 64.18 126 0 0.00 33 57 63.33 LRP2 0 genome.wustl.edu 37 2 170093634 170093634 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 170093634 170093634 A G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.4670 p.L1557P 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 tier1 - - 93 0 0.00 57 7 10.94 86 1 1.15 76 13 14.44 TULP1 0 genome.wustl.edu 37 6 35471347 35471347 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 35471347 35471347 G A SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known missense c.1312 p.R438W 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 tier1 - - 110 0 0.00 71 17 19.32 11 0 0.00 14 4 22.22 ILVBL 0 genome.wustl.edu 37 19 15230044 15230044 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 15230044 15230044 G A SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known silent c.984 p.N328 1.000 pfam_Thiamin_PyroP_enz_cen_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 tier1 - - 101 0 0.00 33 67 67.00 48 0 0.00 11 25 69.44 ADH7 0 genome.wustl.edu 37 4 100340163 100340163 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 100340163 100340163 C T SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known nonsense c.977 p.W326* 1.000 pfam_ADH_C pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 tier1 - - 42 0 0.00 19 29 60.42 139 0 0.00 23 43 65.15 ADNP2 0 genome.wustl.edu 37 18 77894164 77894164 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 77894164 77894164 C T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.868 p.P290S 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 tier1 - - 26 0 0.00 10 14 58.33 36 0 0.00 11 18 62.07 PALB2 0 genome.wustl.edu 37 16 23641698 23641698 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 23641698 23641698 G A SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known missense c.1777 p.H593Y 0.015 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 tier1 - - 36 0 0.00 41 14 25.45 160 0 0.00 123 39 24.07 SCN11A 0 genome.wustl.edu 37 3 38889137 38889137 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 38889137 38889137 C T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.4424 p.R1475K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 49 0 0.00 42 13 23.64 104 0 0.00 75 22 22.68 SUPT6H 0 genome.wustl.edu 37 17 27015224 27015224 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 27015224 27015224 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.3122 p.S1041F 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_R-bd_dom,pfam_SH2,superfamily_-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_R-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_R-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 tier1 - - 75 0 0.00 22 34 60.71 98 0 0.00 24 41 63.08 ZFYVE26 0 genome.wustl.edu 37 14 68249851 68249851 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 68249851 68249851 G A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.4018 p.R1340C 0.389 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 tier1 - - 23 0 0.00 28 6 17.65 106 0 0.00 58 14 19.44 EP400 0 genome.wustl.edu 37 12 132551346 132551346 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 132551346 132551346 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.8689 p.A2897T 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 77 0 0.00 37 16 29.63 53 0 0.00 42 15 25.86 PPARGC1A 0 genome.wustl.edu 37 4 23803471 23803471 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 23803471 23803471 G A SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known silent c.2175 p.T725 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 tier1 - - 36 0 0.00 13 15 53.57 172 0 0.00 49 70 58.33 ATP5B 0 genome.wustl.edu 37 12 57033081 57033081 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 57033081 57033081 G A SNP ATP5B ENST00000262030 human ensembl 74_37 -1 known missense c.1298 p.S433F 1.000 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_F1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu - no_errors ATP5B HGNC ENSG00000110955 tier1 - - 40 0 0.00 22 13 37.14 87 0 0.00 37 14 27.45 FBXW8 0 genome.wustl.edu 37 12 117365893 117365893 + Silent SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 117365893 117365893 T C SNP FBXW8 ENST00000309909 human ensembl 74_37 +1 known silent c.384 p.F128 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinonprotein_ADH-like_supfam,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 tier1 - - 36 0 0.00 27 6 18.18 133 0 0.00 59 35 37.23 MALAT1 0 genome.wustl.edu 37 11 65266996 65266996 + R SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 65266996 65266996 C G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 179 0 0.00 109 63 36.00 96 0 0.00 105 55 34.38 GRM8 0 genome.wustl.edu 37 7 126746678 126746678 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 126746678 126746678 G A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.599 p.S200F 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 48 0 0.00 27 21 43.75 158 0 0.00 53 26 32.91 MAP3K5 0 genome.wustl.edu 37 6 136944022 136944022 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 136944022 136944022 C T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.2114 p.R705K 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,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 77 0 0.00 38 16 29.63 122 0 0.00 99 60 37.50 NLGN4Y 0 genome.wustl.edu 37 Y 16952665 16952665 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b Y 16952665 16952665 C T SNP NLGN4Y ENST00000382868 human ensembl 74_37 +1 known silent c.2145 p.P715 0.737 NULL pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 tier1 - - 31 0 0.00 17 5 22.73 60 0 0.00 18 2 10.00 ZNF890P 0 genome.wustl.edu 37 7 5161484 5161484 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 5161484 5161484 G A SNP ZNF890P ENST00000422060 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF890P HGNC ENSG00000159904 tier1 - - 46 0 0.00 30 12 28.57 68 0 0.00 27 19 41.30 ACSM2B 0 genome.wustl.edu 37 16 20566767 20566767 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 20566767 20566767 C T SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known missense c.420 p.M140I 0.950 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 tier1 - - 107 0 0.00 55 29 34.52 75 1 1.32 39 23 37.10 CYP4F22 0 genome.wustl.edu 37 19 15636237 15636237 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 15636237 15636237 C T SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known silent c.90 p.F30 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 tier1 - - 31 0 0.00 6 21 77.78 49 0 0.00 15 20 57.14 MOSPD3 0 genome.wustl.edu 37 7 100212794 100212794 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 100212794 100212794 C T SNP MOSPD3 ENST00000223054 human ensembl 74_37 +1 known silent c.696 p.F232 0.999 NULL pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom - no_errors MOSPD3 HGNC ENSG00000106330 tier1 - - 74 0 0.00 21 15 41.67 90 0 0.00 36 20 35.71 HS6ST2 0 genome.wustl.edu 37 X 131762776 131762776 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 131762776 131762776 G A SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known silent c.1413 p.F471 0.043 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 tier1 - - 29 0 0.00 14 21 60.00 70 0 0.00 26 57 68.67 PLS1 0 genome.wustl.edu 37 3 142403136 142403136 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 142403136 142403136 C T SNP PLS1 ENST00000337777 human ensembl 74_37 +1 known silent c.787 p.L263 1.000 superfamily_CH-domain pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS1 HGNC ENSG00000120756 tier1 - - 48 0 0.00 56 18 24.32 97 0 0.00 40 19 32.20 TMEM132C 0 genome.wustl.edu 37 12 129190241 129190241 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 129190241 129190241 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.2728 p.E910K 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 67 0 0.00 33 10 23.26 53 0 0.00 25 10 28.57 LAMA1 0 genome.wustl.edu 37 18 7042207 7042207 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 7042207 7042207 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1198 p.D400N 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 45 0 0.00 13 20 60.61 86 0 0.00 19 33 63.46 ENSG00000273189 0 genome.wustl.edu 37 19 49990694 49990694 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 49990694 49990694 G A SNP ENSG00000273189 ENST00000595815 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3148I10.15 Clone_based_vega_gene ENSG00000273189 tier1 - - 21 0 0.00 10 15 60.00 31 0 0.00 10 25 71.43 AXDND1 0 genome.wustl.edu 37 1 179354442 179354442 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 179354442 179354442 C T SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known nonsense c.811 p.R271* 0.998 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 tier1 rs149782250 - 142 0 0.00 89 38 29.92 95 0 0.00 32 30 48.39 EM 0 genome.wustl.edu 37 4 71509597 71509597 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 71509597 71509597 G A SNP EM ENST00000396073 human ensembl 74_37 +1 known silent c.2454 p.Q818 1.000 NULL NULL - no_errors EM HGNC ENSG00000132464 tier1 - - 52 0 0.00 15 31 67.39 195 0 0.00 44 61 58.10 ITIH2 0 genome.wustl.edu 37 10 7759616 7759616 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 7759616 7759616 C A SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.495 p.F165L 0.998 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 tier1 - - 84 0 0.00 59 36 37.89 102 0 0.00 77 28 26.67 TTN 0 genome.wustl.edu 37 2 179485012 179485012 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179485012 179485012 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.38532 p.C12844 1.000 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 - - 50 0 0.00 35 13 27.08 116 0 0.00 82 19 18.81 GRM7 0 genome.wustl.edu 37 3 7728066 7728066 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 7728066 7728066 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.2721 p.K907 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 197 0 0.00 206 47 18.58 121 0 0.00 98 40 28.99 TPSAB1 0 genome.wustl.edu 37 16 1291582 1291582 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 1291582 1291582 G A SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known silent c.381 p.L127 0.003 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 tier1 - - 45 0 0.00 22 10 31.25 41 0 0.00 19 8 29.63 SLC38A4 0 genome.wustl.edu 37 12 47173580 47173580 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 47173580 47173580 G A SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.641 p.S214L 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 tier1 - - 120 0 0.00 79 34 30.09 95 0 0.00 41 31 43.06 SNORD114-12 0 genome.wustl.edu 37 14 101435286 101435286 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 101435286 101435286 G A SNP SNORD114-12 ENST00000365400 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNORD114-12 HGNC ENSG00000202270 tier1 - - 179 0 0.00 101 88 46.56 99 0 0.00 72 47 39.17 FGD5 0 genome.wustl.edu 37 3 14964629 14964629 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 14964629 14964629 G A SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3884 p.G1295D 1.000 pfam_Znf_FYVE,smart_Znf_FYVE,pfscan_Znf_FYVE-rel 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 - - 36 0 0.00 29 19 39.58 69 0 0.00 19 29 60.42 FHIT 0 genome.wustl.edu 37 3 59737921 59737921 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 59737921 59737921 G A SNP FHIT ENST00000466788 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FHIT HGNC ENSG00000189283 tier1 - - 100 0 0.00 59 34 36.56 125 0 0.00 82 44 34.92 ADAMTS2 0 genome.wustl.edu 37 5 178585761 178585761 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 178585761 178585761 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.1095 p.F365 0.998 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 52 0 0.00 21 21 50.00 89 0 0.00 25 36 59.02 MYOCD 0 genome.wustl.edu 37 17 12659837 12659837 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 12659837 12659837 G A SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.2165 p.G722E 0.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 89 0 0.00 26 40 60.61 114 0 0.00 26 53 67.09 CRTAC1 0 genome.wustl.edu 37 10 99661287 99661287 + Missense_Mutation SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 99661287 99661287 C G SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.1106 p.R369P 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 tier1 - - 93 0 0.00 22 41 65.08 63 1 1.56 21 27 55.10 ARPP21 0 genome.wustl.edu 37 3 35732379 35732379 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 35732379 35732379 C T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known nonsense c.568 p.Q190* 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 128 0 0.00 79 56 41.48 91 0 0.00 48 46 48.94 DHRSX 0 genome.wustl.edu 37 X 2209608 2209608 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 2209608 2209608 G A SNP DHRSX ENST00000334651 human ensembl 74_37 -1 known missense c.323 p.S108F 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 tier1 - - 288 0 0.00 145 138 48.76 115 0 0.00 42 42 50.00 KIF1A 0 genome.wustl.edu 37 2 241728730 241728730 + Splice_Site SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 241728730 241728730 C G SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known splice_site c.107-1 e2-1 1.000 - - - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 124 0 0.00 57 28 32.56 160 0 0.00 68 49 41.53 RPS7 0 genome.wustl.edu 37 2 3624141 3624141 + Missense_Mutation SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 3624141 3624141 C G SNP RPS7 ENST00000304921 human ensembl 74_37 +1 known missense c.212 p.S71C 1.000 pfam_Ribosomal_S7e pfam_Ribosomal_S7e - no_errors RPS7 HGNC ENSG00000171863 tier1 - - 152 0 0.00 130 21 13.91 30 0 0.00 13 3 18.75 SCN3A 0 genome.wustl.edu 37 2 165949021 165949021 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 165949021 165949021 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.4550 p.G1517E 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 55 0 0.00 19 11 36.67 46 0 0.00 18 12 40.00 TNR 0 genome.wustl.edu 37 1 175331865 175331865 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 175331865 175331865 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.2788 p.E930K 1.000 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_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 109 1 0.91 59 24 28.92 89 1 1.11 37 27 42.19 DH5 0 genome.wustl.edu 37 5 13735348 13735348 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 13735348 13735348 G A SNP DH5 ENST00000265104 human ensembl 74_37 -1 known nonsense c.11653 p.R3885* 0.937 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH5 HGNC ENSG00000039139 tier1 - - 76 0 0.00 38 40 51.28 140 0 0.00 82 57 41.01 ABCC12 0 genome.wustl.edu 37 16 48173107 48173107 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 48173107 48173107 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known silent c.798 p.G266 0.967 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 93 0 0.00 60 16 21.05 134 0 0.00 73 40 35.40 SORL1 0 genome.wustl.edu 37 11 121367755 121367755 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 121367755 121367755 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.936 p.V312 0.928 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 140 0 0.00 55 55 50.00 205 0 0.00 73 66 47.48 TMCO3 0 genome.wustl.edu 37 13 114152660 114152660 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 114152660 114152660 G A SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.448 p.E150K 1.000 NULL pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 tier1 - - 138 0 0.00 64 15 18.99 122 0 0.00 41 6 12.77 CYP3A4 0 genome.wustl.edu 37 7 99367474 99367474 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 99367474 99367474 G A SNP CYP3A4 ENST00000336411 human ensembl 74_37 -1 known silent c.438 p.V146 0.993 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 tier1 - - 65 0 0.00 29 9 23.68 148 0 0.00 73 40 35.40 ENPP6 0 genome.wustl.edu 37 4 185038021 185038021 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 185038021 185038021 C T SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known silent c.843 p.G281 0.949 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 tier1 - - 47 0 0.00 16 25 59.52 65 0 0.00 13 33 71.74 F5 0 genome.wustl.edu 37 1 169493088 169493088 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 169493088 169493088 C T SNP F5 ENST00000367797 human ensembl 74_37 -1 known nonsense c.5843 p.W1948* 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_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 - - 78 0 0.00 46 17 26.98 167 0 0.00 96 30 23.81 ZNF221 0 genome.wustl.edu 37 19 44470188 44470188 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 44470188 44470188 C T SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known silent c.534 p.S178 0.003 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 ZNF221 HGNC ENSG00000159905 tier1 - - 55 0 0.00 28 26 48.15 100 0 0.00 51 42 45.16 NOS1 0 genome.wustl.edu 37 12 117723054 117723054 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 117723054 117723054 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.1374 p.G458 0.998 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 36 0 0.00 20 5 20.00 87 0 0.00 46 17 26.15 STAT1 0 genome.wustl.edu 37 2 191845366 191845366 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 191845366 191845366 G A SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.1612 p.P538S 1.000 pfam_STAT_TF_D-bd,superfamily_p53-like_TF_D-bd pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 tier1 - - 107 0 0.00 74 16 17.78 195 0 0.00 102 22 17.74 SYNM 0 genome.wustl.edu 37 15 99672568 99672568 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 99672568 99672568 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.4000 p.E1334K 0.005 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 tier1 - - 28 0 0.00 25 8 24.24 71 0 0.00 33 12 26.67 NUPL1 0 genome.wustl.edu 37 13 25912826 25912826 + Missense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 25912826 25912826 T A SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known missense c.1587 p.F529L 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 tier1 - - 129 0 0.00 64 35 35.35 148 0 0.00 97 48 33.10 ABCG1 0 genome.wustl.edu 37 21 43716300 43716300 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 43716300 43716300 C T SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.2273 p.S758F 1.000 tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 tier1 - - 88 0 0.00 52 24 31.58 93 0 0.00 75 39 34.21 ENSG00000269495 0 genome.wustl.edu 37 19 51466875 51466875 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 51466875 51466875 G A SNP ENSG00000269495 ENST00000601506 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-147C22.8 Clone_based_vega_gene ENSG00000269495 tier1 - - 12 0 0.00 16 9 36.00 65 0 0.00 42 28 39.44 ZNF831 0 genome.wustl.edu 37 20 57769470 57769470 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 57769470 57769470 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.3396 p.S1132 0.214 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 44 0 0.00 23 25 52.08 52 0 0.00 22 11 32.35 CLCNKB 0 genome.wustl.edu 37 1 16376405 16376405 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 16376405 16376405 C T SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known missense c.962 p.A321V 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 tier1 - - 39 0 0.00 24 6 20.00 61 0 0.00 59 13 18.06 PABPC1 0 genome.wustl.edu 37 8 101721932 101721932 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 101721932 101721932 C T SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.1000 p.G334R 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 tier1 - - 70 0 0.00 67 28 29.47 51 0 0.00 29 19 39.58 TARS2 0 genome.wustl.edu 37 1 150463910 150463910 + Nonsense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 150463910 150463910 T A SNP TARS2 ENST00000438568 human ensembl 74_37 +1 known nonsense c.428 p.L143* 0.998 NULL pfam_TGS,superfamily_TGS-like - no_errors TARS2 HGNC ENSG00000143374 tier1 - - 73 0 0.00 19 32 62.75 99 0 0.00 70 26 27.08 TRIM58 0 genome.wustl.edu 37 1 248023942 248023942 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 248023942 248023942 A G SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known silent c.444 p.E148 0.026 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 tier1 - - 55 0 0.00 43 12 21.82 137 0 0.00 72 13 15.29 CHD2 0 genome.wustl.edu 37 15 93528743 93528743 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 93528743 93528743 A G SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.3253 p.S1085G 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 57 0 0.00 34 12 26.09 62 0 0.00 23 15 39.47 CYP2S1 0 genome.wustl.edu 37 19 41704521 41704521 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 41704521 41704521 G A SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known silent c.648 p.G216 0.996 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 tier1 - - 46 0 0.00 19 30 61.22 69 0 0.00 37 33 47.14 DCTN1 0 genome.wustl.edu 37 2 74592276 74592276 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 74592276 74592276 G A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.3122 p.S1041F 1.000 superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 tier1 - - 70 0 0.00 40 22 35.48 131 0 0.00 61 48 44.04 HOXA5 0 genome.wustl.edu 37 7 27181527 27181527 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 27181527 27181527 C T SNP HOXA5 ENST00000222726 human ensembl 74_37 -1 known missense c.740 p.R247K 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 tier1 - - 54 0 0.00 51 11 17.74 107 0 0.00 76 11 12.64 PLCB3 0 genome.wustl.edu 37 11 64030237 64030237 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 64030237 64030237 C T SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.2312 p.S771L 1.000 pirsf_PLC-beta,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 tier1 - - 70 0 0.00 51 6 10.53 84 0 0.00 72 11 13.25 OR14K1 0 genome.wustl.edu 37 1 247902365 247902365 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 247902365 247902365 G A SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.449 p.R150K 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 tier1 - - 24 0 0.00 10 9 47.37 57 0 0.00 29 10 25.64 KRTAP13-4 0 genome.wustl.edu 37 21 31802671 31802671 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 31802671 31802671 C T SNP KRTAP13-4 ENST00000334068 human ensembl 74_37 +1 known silent c.78 p.P26 0.992 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-4 HGNC ENSG00000186971 tier1 - - 70 0 0.00 39 15 27.78 54 0 0.00 44 17 27.87 SLC5A6 0 genome.wustl.edu 37 2 27428924 27428924 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 27428924 27428924 C T SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known silent c.549 p.L183 0.704 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 SLC5A6 HGNC ENSG00000138074 tier1 - - 38 0 0.00 24 24 50.00 81 0 0.00 42 40 48.78 RNH1 0 genome.wustl.edu 37 11 494993 494993 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 494993 494993 G A SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known silent c.1188 p.A396 0.183 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 tier1 - - 62 0 0.00 34 30 46.88 18 0 0.00 10 8 44.44 ATP2B4 0 genome.wustl.edu 37 1 203677214 203677214 + Silent SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 203677214 203677214 T C SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.1539 p.A513 1.000 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 52 0 0.00 35 33 48.53 126 0 0.00 79 37 31.90 TTN 0 genome.wustl.edu 37 2 179500409 179500409 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179500409 179500409 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.33938 p.R11313Q 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub 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 - - 53 0 0.00 35 20 36.36 111 0 0.00 58 49 45.37 XIST 0 genome.wustl.edu 37 X 73063933 73063933 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 73063933 73063933 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 79 0 0.00 15 67 81.71 82 0 0.00 14 47 77.05 HSPA14 0 genome.wustl.edu 37 10 14884575 14884575 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 14884575 14884575 C T SNP HSPA14 ENST00000493863 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSPA14 HGNC ENSG00000187522 tier1 - - 43 0 0.00 41 7 14.58 93 0 0.00 88 10 10.20 ILDR1 0 genome.wustl.edu 37 3 121712771 121712771 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 121712771 121712771 G A SNP ILDR1 ENST00000344209 human ensembl 74_37 -1 known silent c.825 p.T275 0.000 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 tier1 - - 29 0 0.00 24 9 27.27 146 0 0.00 82 53 39.26 ATRNL1 0 genome.wustl.edu 37 10 117228698 117228698 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 117228698 117228698 G A SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known silent c.3513 p.G1171 0.767 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 101 0 0.00 22 39 63.93 30 0 0.00 13 23 63.89 PPIB 0 genome.wustl.edu 37 15 64452346 64452346 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 64452346 64452346 G A SNP PPIB ENST00000300026 human ensembl 74_37 -1 known silent c.300 p.F100 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC ENSG00000166794 tier1 - - 94 0 0.00 54 21 28.00 135 0 0.00 84 37 30.58 SDPR 0 genome.wustl.edu 37 2 192700931 192700931 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 192700931 192700931 G A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known silent c.996 p.S332 0.011 NULL NULL - no_errors SDPR HGNC ENSG00000168497 tier1 - - 17 0 0.00 14 4 22.22 78 0 0.00 17 26 60.47 DAGLA 0 genome.wustl.edu 37 11 61490358 61490358 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 61490358 61490358 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.335 p.A112V 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 tier1 - - 28 0 0.00 11 14 56.00 83 0 0.00 35 54 60.67 TSGA10 0 genome.wustl.edu 37 2 99634676 99634676 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 99634676 99634676 G A SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known nonsense c.2059 p.R687* 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 87 0 0.00 36 46 56.10 91 0 0.00 40 41 50.62 SMTN 0 genome.wustl.edu 37 22 31493284 31493284 + Nonsense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 31493284 31493284 A T SNP SMTN ENST00000347557 human ensembl 74_37 +1 known nonsense c.2119 p.K707* 1.000 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 tier1 - - 26 0 0.00 16 12 42.86 80 0 0.00 65 22 25.29 TTN 0 genome.wustl.edu 37 2 179477781 179477781 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179477781 179477781 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.41963 p.G13988E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 58 0 0.00 37 16 30.19 147 1 0.68 99 36 26.67 MYF5 0 genome.wustl.edu 37 12 81111151 81111151 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 81111151 81111151 C T SNP MYF5 ENST00000228644 human ensembl 74_37 +1 known silent c.309 p.F103 0.994 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 tier1 - - 101 0 0.00 68 21 23.60 114 0 0.00 51 31 37.80 ITGA2 0 genome.wustl.edu 37 5 52340882 52340882 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 52340882 52340882 G A SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.347 p.G116D 1.000 NULL 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 ITGA2 HGNC ENSG00000164171 tier1 - - 63 0 0.00 22 22 50.00 123 0 0.00 29 34 53.97 MSTN 0 genome.wustl.edu 37 2 190925009 190925009 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 190925009 190925009 G A SNP MSTN ENST00000260950 human ensembl 74_37 -1 known missense c.526 p.L176F 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 tier1 - - 89 0 0.00 54 16 22.86 164 0 0.00 83 24 22.43 TSHZ2 0 genome.wustl.edu 37 20 51870918 51870918 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 51870918 51870918 G A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known silent c.921 p.E307 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 - - 194 0 0.00 134 63 31.98 135 0 0.00 106 43 28.86 VWA3B 0 genome.wustl.edu 37 2 98809377 98809377 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 98809377 98809377 G A SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1483 p.D495N 0.059 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 tier1 - - 49 0 0.00 45 13 22.41 88 0 0.00 59 10 14.49 TRPC6 0 genome.wustl.edu 37 11 101362323 101362323 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 101362323 101362323 G A SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known silent c.1092 p.S364 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 58 0 0.00 20 31 60.78 94 0 0.00 19 31 62.00 DOCK3 0 genome.wustl.edu 37 3 51273845 51273845 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 51273845 51273845 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.1987 p.V663I 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 143 0 0.00 79 44 35.77 134 0 0.00 89 52 36.88 ZCCHC8 0 genome.wustl.edu 37 12 122958192 122958192 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 122958192 122958192 G A SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known missense c.1976 p.P659L 0.132 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 tier1 - - 82 0 0.00 45 27 37.50 151 1 0.65 65 30 31.58 CECR2 0 genome.wustl.edu 37 22 18016892 18016892 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 18016892 18016892 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel silent c.1143 p.P381 0.003 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 151 0 0.00 113 37 24.67 155 0 0.00 100 47 31.97 RING1 0 genome.wustl.edu 37 6 33177437 33177437 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 33177437 33177437 C T SNP RING1 ENST00000374656 human ensembl 74_37 +1 known missense c.113 p.S38F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 tier1 - - 25 0 0.00 17 4 19.05 96 1 1.03 58 17 22.67 LOC100287896 0 genome.wustl.edu 37 11 74207929 74207929 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 74207929 74207929 C T SNP LOC100287896 ENST00000526036 human ensembl 74_37 +1 known rna NULL NULL 0.204 - - - no_errors AP001372.2 Clone_based_vega_gene ENSG00000254837 tier1 - - 14 0 0.00 17 10 37.04 103 1 0.96 54 38 41.30 RRP12 0 genome.wustl.edu 37 10 99130864 99130864 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 99130864 99130864 G A SNP RRP12 ENST00000479481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RRP12 HGNC ENSG00000052749 tier1 - - 19 0 0.00 9 14 60.87 41 0 0.00 22 16 42.11 TAF1L 0 genome.wustl.edu 37 9 32634722 32634722 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 32634722 32634722 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.856 p.R286C 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 91 0 0.00 61 21 25.61 97 0 0.00 85 19 18.27 PLCB4 0 genome.wustl.edu 37 20 9461063 9461063 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 9461063 9461063 G A SNP PLCB4 ENST00000464199 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PLCB4 HGNC ENSG00000101333 tier1 - - 60 0 0.00 49 29 37.18 90 0 0.00 88 52 37.14 EYS 0 genome.wustl.edu 37 6 64574181 64574181 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 64574181 64574181 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.7126 p.E2376K 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 46 0 0.00 37 10 21.28 123 0 0.00 69 20 22.47 TDRD15 0 genome.wustl.edu 37 2 21364448 21364448 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 21364448 21364448 G A SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.4109 p.G1370E 0.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 135 0 0.00 75 57 43.18 71 0 0.00 49 38 43.68 ABCG2 0 genome.wustl.edu 37 4 89020483 89020483 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 89020483 89020483 G A SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known silent c.1485 p.F495 0.987 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 tier1 - - 140 0 0.00 31 61 66.30 88 0 0.00 32 40 55.56 PAX9 0 genome.wustl.edu 37 14 37131029 37131029 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 37131029 37131029 C T SNP PAX9 ENST00000553267 human ensembl 74_37 +1 putative rna NULL NULL 0.196 - - - no_errors PAX9 HGNC ENSG00000198807 tier1 - - 21 0 0.00 14 6 30.00 45 0 0.00 24 8 25.00 ADARB2-AS1 0 genome.wustl.edu 37 10 1599177 1599177 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 1599177 1599177 C T SNP ADARB2-AS1 ENST00000421697 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors ADARB2-AS1 HGNC ENSG00000205696 tier1 - - 24 0 0.00 17 15 46.88 128 0 0.00 80 35 30.17 MTUS2-AS1 0 genome.wustl.edu 37 13 30061766 30061766 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 30061766 30061766 C T SNP MTUS2-AS1 ENST00000323380 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTUS2-AS1 HGNC ENSG00000179141 tier1 - - 32 0 0.00 10 13 56.52 118 0 0.00 56 27 32.53 UGP2 0 genome.wustl.edu 37 2 64113605 64113605 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 64113605 64113605 C T SNP UGP2 ENST00000337130 human ensembl 74_37 +1 known missense c.1004 p.S335F 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 tier1 - - 68 0 0.00 52 13 20.00 72 0 0.00 33 7 17.50 PYGM 0 genome.wustl.edu 37 11 64514753 64514753 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 64514753 64514753 G A SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.2255 p.S752F 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 tier1 - - 40 0 0.00 43 23 34.85 109 0 0.00 66 37 35.92 PXDNL 0 genome.wustl.edu 37 8 52359645 52359645 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 52359645 52359645 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.1444 p.D482N 0.973 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 74 0 0.00 23 44 65.67 82 0 0.00 26 41 61.19 NEDD9 0 genome.wustl.edu 37 6 11185447 11185447 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 11185447 11185447 G A SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.2453 p.S818F 1.000 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 tier1 - - 44 0 0.00 19 23 54.76 63 0 0.00 48 14 22.58 CAPN5 0 genome.wustl.edu 37 11 76825457 76825457 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 76825457 76825457 G A SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.676 p.G226S 0.997 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 tier1 - - 40 0 0.00 16 15 48.39 80 0 0.00 42 26 38.24 FBXL13 0 genome.wustl.edu 37 7 102523910 102523910 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 102523910 102523910 A G SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known silent c.1230 p.N410 1.000 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 tier1 - - 53 0 0.00 32 17 34.69 78 0 0.00 51 27 34.62 MAMDC2 0 genome.wustl.edu 37 9 72659550 72659550 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 72659550 72659550 G A SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.85 p.E29K 1.000 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 - - 81 0 0.00 25 40 61.54 53 0 0.00 11 26 70.27 GOLGB1 0 genome.wustl.edu 37 3 121415178 121415178 + Nonsense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 121415178 121415178 T A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known nonsense c.4177 p.K1393* 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 110 0 0.00 76 33 30.28 145 0 0.00 101 62 38.04 NPR3 0 genome.wustl.edu 37 5 32724867 32724867 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 32724867 32724867 G A SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.833 p.G278D 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 tier1 - - 42 0 0.00 12 16 57.14 94 0 0.00 39 42 51.85 CSMD3 0 genome.wustl.edu 37 8 114186119 114186119 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 114186119 114186119 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.541 p.P181S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 31 0 0.00 28 10 26.32 120 0 0.00 47 29 38.16 PKP4 0 genome.wustl.edu 37 2 159481744 159481744 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 159481744 159481744 G A SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.958 p.D320N 0.999 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 - - 30 0 0.00 29 15 34.09 50 0 0.00 24 15 38.46 DHCR7 0 genome.wustl.edu 37 11 71152341 71152341 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 71152341 71152341 G A SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known silent c.558 p.I186 0.997 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 tier1 - - 41 0 0.00 22 18 45.00 99 0 0.00 52 39 42.86 COL5A3 0 genome.wustl.edu 37 19 10114286 10114286 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 10114286 10114286 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.804 p.K268 0.994 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 59 0 0.00 18 48 72.73 130 0 0.00 30 81 72.32 GRIN2B 0 genome.wustl.edu 37 12 13715942 13715942 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 13715942 13715942 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.4230 p.T1410 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 tier1 rs149655315 - 27 0 0.00 20 9 31.03 32 0 0.00 19 9 32.14 SPEN 0 genome.wustl.edu 37 1 16260477 16260477 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 16260477 16260477 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.7742 p.P2581L 0.159 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 70 0 0.00 69 21 23.33 86 1 1.15 83 20 19.42 CA9 0 genome.wustl.edu 37 9 35680961 35680961 + Splice_Site SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 35680961 35680961 G A SNP CA9 ENST00000378357 human ensembl 74_37 +1 known splice_site c.1320-1 e11-1 0.000 - - - no_errors CA9 HGNC ENSG00000107159 tier1 - - 110 0 0.00 166 19 10.27 89 0 0.00 84 20 19.23 AP3B2 0 genome.wustl.edu 37 15 83328343 83328343 + Missense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 83328343 83328343 A T SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.3218 p.V1073E 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 tier1 - - 30 0 0.00 32 7 17.95 103 0 0.00 43 15 25.86 SERPI10 0 genome.wustl.edu 37 14 94756286 94756286 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 94756286 94756286 C T SNP SERPI10 ENST00000261994 human ensembl 74_37 -1 known silent c.645 p.G215 0.964 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI10 HGNC ENSG00000140093 tier1 - - 98 0 0.00 54 45 45.45 142 0 0.00 57 46 44.66 SULT4A1 0 genome.wustl.edu 37 22 44221920 44221920 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 44221920 44221920 C T SNP SULT4A1 ENST00000330884 human ensembl 74_37 -1 known silent c.816 p.K272 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT4A1 HGNC ENSG00000130540 tier1 - - 83 0 0.00 57 32 35.96 135 0 0.00 71 49 40.50 KCNG1 0 genome.wustl.edu 37 20 49620663 49620663 + Silent SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 49620663 49620663 G T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.1455 p.L485 0.969 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 35 0 0.00 27 11 28.95 84 0 0.00 73 36 33.03 ENSG00000267575 0 genome.wustl.edu 37 19 28296625 28296625 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 28296625 28296625 C T SNP ENSG00000267575 ENST00000585917 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-459F4.3 Clone_based_vega_gene ENSG00000267575 tier1 - - 60 0 0.00 34 16 32.00 89 0 0.00 64 20 23.81 AMER3 0 genome.wustl.edu 37 2 131520777 131520777 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 131520777 131520777 G A SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.1132 p.E378K 0.732 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 tier1 - - 62 0 0.00 45 13 22.41 73 1 1.35 32 7 17.95 PRKG2 0 genome.wustl.edu 37 4 82125774 82125774 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 82125774 82125774 G A SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.428 p.S143F 1.000 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 tier1 - - 86 0 0.00 37 36 49.32 122 0 0.00 29 39 57.35 ZNF804A 0 genome.wustl.edu 37 2 185801484 185801484 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 185801484 185801484 C T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1361 p.S454F 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 106 0 0.00 76 27 26.21 138 0 0.00 101 23 18.55 MCTP1 0 genome.wustl.edu 37 5 94259673 94259673 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 94259673 94259673 A G SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known silent c.1266 p.F422 1.000 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 tier1 - - 83 0 0.00 31 45 59.21 84 0 0.00 34 25 42.37 MDN1 0 genome.wustl.edu 37 6 90357806 90357806 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 90357806 90357806 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.16340 p.G5447E 1.000 smart_VWF_A,pirsf_Midasin,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 110 0 0.00 60 35 36.84 130 0 0.00 74 38 33.93 LTN1 0 genome.wustl.edu 37 21 30358501 30358501 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 30358501 30358501 C A SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.442 p.V148F 1.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 tier1 - - 194 0 0.00 111 69 38.33 112 0 0.00 62 29 31.87 CD163 0 genome.wustl.edu 37 12 7640497 7640497 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 7640497 7640497 C T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1607 p.G536E 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 61 0 0.00 31 13 29.55 101 0 0.00 50 31 38.27 MYO3B 0 genome.wustl.edu 37 2 171258031 171258031 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 171258031 171258031 G A SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known silent c.1986 p.E662 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 tier1 - - 56 0 0.00 39 13 25.00 67 0 0.00 48 17 26.15 TAS1R2 0 genome.wustl.edu 37 1 19166408 19166408 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 19166408 19166408 G A SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel silent c.2205 p.D735 0.999 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 tier1 - - 50 0 0.00 26 12 31.58 113 0 0.00 70 31 30.69 CLPTM1 0 genome.wustl.edu 37 19 45491343 45491343 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 45491343 45491343 C T SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known silent c.1044 p.A348 0.999 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 tier1 - - 48 0 0.00 39 31 44.29 84 0 0.00 20 23 52.27 SCTR 0 genome.wustl.edu 37 2 120221760 120221760 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 120221760 120221760 T C SNP SCTR ENST00000019103 human ensembl 74_37 -1 known missense c.575 p.N192S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1 - no_errors SCTR HGNC ENSG00000080293 tier1 - - 42 0 0.00 33 9 21.43 75 0 0.00 45 20 30.77 PDE6B 0 genome.wustl.edu 37 4 651206 651206 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 651206 651206 G A SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.1324 p.E442K 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 tier1 - - 70 0 0.00 14 28 66.67 118 0 0.00 29 47 61.84 TMED2 0 genome.wustl.edu 37 12 124069231 124069231 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 124069231 124069231 C T SNP TMED2 ENST00000262225 human ensembl 74_37 +1 known silent c.48 p.A16 1.000 NULL pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED2 HGNC ENSG00000086598 tier1 - - 94 0 0.00 68 14 17.07 39 0 0.00 30 6 16.67 NUP210P1 0 genome.wustl.edu 37 3 126385985 126385985 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 126385985 126385985 G A SNP NUP210P1 ENST00000357061 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors NUP210P1 HGNC ENSG00000198284 tier1 - - 24 0 0.00 18 15 44.12 102 0 0.00 63 33 34.02 CSMD3 0 genome.wustl.edu 37 8 113841985 113841985 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 113841985 113841985 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1789 p.E597K 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 58 0 0.00 35 15 30.00 103 0 0.00 58 27 31.76 LRP1B 0 genome.wustl.edu 37 2 141986907 141986907 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 141986907 141986907 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.695 p.G232E 0.978 superfamily_Growth_fac_rcpt_N_dom,smart_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 - - 123 0 0.00 48 30 38.46 73 0 0.00 44 21 32.31 ERN2 0 genome.wustl.edu 37 16 23721500 23721500 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 23721500 23721500 C T SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.443 p.G148E 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 tier1 - - 79 0 0.00 59 18 23.38 161 0 0.00 97 48 33.10 V3 0 genome.wustl.edu 37 12 78513686 78513686 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 78513686 78513686 G A SNP V3 ENST00000397909 human ensembl 74_37 +1 known missense c.3710 p.G1237E 0.999 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors V3 HGNC ENSG00000067798 tier1 - - 41 0 0.00 10 10 50.00 178 0 0.00 65 35 35.00 OR6C6 0 genome.wustl.edu 37 12 55688710 55688710 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 55688710 55688710 G A SNP OR6C6 ENST00000358433 human ensembl 74_37 -1 known missense c.307 p.L103F 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C6 HGNC ENSG00000188324 tier1 - - 67 0 0.00 26 13 33.33 60 0 0.00 38 7 15.56 STAC 0 genome.wustl.edu 37 3 36570342 36570342 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 36570342 36570342 G A SNP STAC ENST00000273183 human ensembl 74_37 +1 known silent c.975 p.G325 0.990 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 tier1 - - 81 0 0.00 56 33 37.08 69 0 0.00 73 29 28.43 MTERFD3 0 genome.wustl.edu 37 12 107371875 107371875 + Silent SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 107371875 107371875 T C SNP MTERFD3 ENST00000240050 human ensembl 74_37 -1 known silent c.618 p.K206 1.000 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 tier1 - - 89 0 0.00 48 15 23.81 101 0 0.00 54 31 36.05 FSIP2 0 genome.wustl.edu 37 2 186662137 186662137 + Missense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 186662137 186662137 A T SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.10541 p.K3514M 0.086 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 219 0 0.00 99 31 23.85 115 0 0.00 89 16 15.24 RYR3 0 genome.wustl.edu 37 15 33928630 33928630 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 33928630 33928630 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.3435 p.G1145 0.970 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 86 0 0.00 30 34 53.12 153 0 0.00 36 42 53.85 EPHA2 0 genome.wustl.edu 37 1 16460971 16460971 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 16460971 16460971 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known silent c.1674 p.I558 1.000 pirsf_Tyr_kinase_ephrin_rcpt 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_Interferon_alpha/beta_rcpt_bsu,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 EPHA2 HGNC ENSG00000142627 tier1 - - 101 0 0.00 101 17 14.41 95 1 1.04 90 17 15.89 PCNT 0 genome.wustl.edu 37 21 47836528 47836528 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 47836528 47836528 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.6696 p.K2232 0.990 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 69 0 0.00 52 36 40.91 18 0 0.00 14 2 12.50 MGC34034 0 genome.wustl.edu 37 6 134142646 134142646 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 134142646 134142646 C T SNP MGC34034 ENST00000456347 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-662A9.2 Clone_based_vega_gene ENSG00000223586 tier1 - - 71 0 0.00 42 15 26.32 86 0 0.00 34 27 44.26 TRPV5 0 genome.wustl.edu 37 7 142612506 142612506 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 142612506 142612506 C T SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known silent c.1257 p.T419 0.000 prints_TRPV5/TRPV6,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 tier1 - - 52 0 0.00 31 9 22.50 106 0 0.00 52 14 20.90 MYLK2 0 genome.wustl.edu 37 20 30408108 30408108 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 30408108 30408108 G A SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known missense c.232 p.G78R 0.058 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 - no_errors MYLK2 HGNC ENSG00000101306 tier1 - - 117 0 0.00 90 68 42.77 70 0 0.00 48 29 37.66 EDF1 0 genome.wustl.edu 37 9 139758280 139758280 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 139758280 139758280 G A SNP EDF1 ENST00000224073 human ensembl 74_37 -1 known missense c.122 p.S41F 1.000 pfam_MBF1_N pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_D-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH - no_errors EDF1 HGNC ENSG00000107223 tier1 - - 54 0 0.00 16 24 60.00 121 0 0.00 21 61 73.49 KP7 0 genome.wustl.edu 37 7 98786157 98786157 + Silent SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 98786157 98786157 G T SNP KP7 ENST00000327442 human ensembl 74_37 -1 known silent c.666 p.T222 0.058 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KP7 HGNC ENSG00000185467 tier1 - - 23 0 0.00 11 4 26.67 156 0 0.00 64 34 34.34 CNKSR2 0 genome.wustl.edu 37 X 21627715 21627715 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 21627715 21627715 G A SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.2672 p.G891E 0.998 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 tier1 - - 59 0 0.00 12 33 73.33 54 0 0.00 21 28 57.14 ZNF717 0 genome.wustl.edu 37 3 75786858 75786858 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 75786858 75786858 C T SNP ZNF717 ENST00000422325 human ensembl 74_37 -1 known missense c.1916 p.G639E 0.700 pfam_Znf_C2H2,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 ZNF717 HGNC ENSG00000227124 tier1 - - 48 0 0.00 21 12 36.36 37 0 0.00 14 11 44.00 ATP8A2 0 genome.wustl.edu 37 13 26501284 26501284 + R SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 26501284 26501284 A G SNP ATP8A2 ENST00000491840 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP8A2 HGNC ENSG00000132932 tier1 - - 26 0 0.00 18 16 47.06 56 0 0.00 34 13 27.66 SHANK2 0 genome.wustl.edu 37 11 70666654 70666654 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 70666654 70666654 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known silent c.1311 p.C437 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 tier1 - - 45 0 0.00 28 11 27.50 25 0 0.00 13 14 51.85 DCC 0 genome.wustl.edu 37 18 51056781 51056781 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 51056781 51056781 C T SNP DCC ENST00000581580 human ensembl 74_37 +1 putative missense c.3218 p.S1073L 0.080 NULL pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 108 0 0.00 36 41 53.25 92 0 0.00 19 55 74.32 RCE1 0 genome.wustl.edu 37 11 66612482 66612482 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 66612482 66612482 C T SNP RCE1 ENST00000309657 human ensembl 74_37 +1 known silent c.594 p.F198 1.000 pfam_CAAX_protease pfam_CAAX_protease - no_errors RCE1 HGNC ENSG00000173653 tier1 - - 46 0 0.00 25 28 52.83 81 0 0.00 69 60 46.51 CECR2 0 genome.wustl.edu 37 22 18029072 18029072 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 18029072 18029072 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel silent c.4029 p.S1343 0.320 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 47 0 0.00 39 10 20.41 60 0 0.00 34 30 46.88 AKR1D1 0 genome.wustl.edu 37 7 137791357 137791357 + Nonsense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 137791357 137791357 G T SNP AKR1D1 ENST00000242375 human ensembl 74_37 +1 known nonsense c.583 p.E195* 1.000 pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 tier1 - - 64 0 0.00 31 12 27.91 148 0 0.00 59 29 32.95 OR2T1 0 genome.wustl.edu 37 1 248569723 248569723 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 248569723 248569723 C T SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.428 p.S143F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 tier1 - - 52 0 0.00 42 9 17.65 158 0 0.00 81 32 28.32 TP53BP2 0 genome.wustl.edu 37 1 223994597 223994597 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 223994597 223994597 G A SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.425 p.S142F 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 tier1 - - 58 0 0.00 32 15 31.91 75 0 0.00 50 19 27.14 APOB 0 genome.wustl.edu 37 2 21235194 21235194 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 21235194 21235194 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.4546 p.G1516R 0.951 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 86 0 0.00 51 9 15.00 125 0 0.00 75 27 26.47 BCKDHB 0 genome.wustl.edu 37 6 80878666 80878666 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 80878666 80878666 C T SNP BCKDHB ENST00000320393 human ensembl 74_37 +1 known silent c.552 p.S184 0.778 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors BCKDHB HGNC ENSG00000083123 tier1 - - 123 0 0.00 88 37 29.60 139 0 0.00 69 33 32.35 SI 0 genome.wustl.edu 37 3 164739172 164739172 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 164739172 164739172 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known splice_site c.3100-1 e26-1 1.000 - - - no_errors SI HGNC ENSG00000090402 tier1 - - 78 0 0.00 76 20 20.83 112 0 0.00 102 41 28.67 PRRC2B 0 genome.wustl.edu 37 9 134371388 134371388 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 134371388 134371388 C T SNP PRRC2B ENST00000465931 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 29 0 0.00 5 14 73.68 89 0 0.00 33 44 57.14 KLKP1 0 genome.wustl.edu 37 19 51391340 51391340 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 51391340 51391340 G A SNP KLKP1 ENST00000600104 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors KLKP1 HGNC ENSG00000197588 tier1 - - 131 0 0.00 62 62 50.00 99 0 0.00 51 50 49.50 PTPRC 0 genome.wustl.edu 37 1 198687384 198687384 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 198687384 198687384 G A SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1612 p.D538N 0.000 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 rs144856406 - 80 0 0.00 60 36 37.50 85 0 0.00 59 38 38.38 IGF2 0 genome.wustl.edu 37 11 2161490 2161490 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 2161490 2161490 G A SNP IGF2 ENST00000434045 human ensembl 74_37 -1 known missense c.37 p.P13S 0.719 NULL pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC ENSG00000167244 tier1 - - 245 0 0.00 115 127 52.48 58 0 0.00 15 54 78.26 FCRL3 0 genome.wustl.edu 37 1 157667157 157667157 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 157667157 157667157 G A SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.617 p.P206L 0.002 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 37 0 0.00 20 5 20.00 60 0 0.00 31 11 26.19 TBC1D30 0 genome.wustl.edu 37 12 65230342 65230342 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 65230342 65230342 G A SNP TBC1D30 ENST00000229088 human ensembl 74_37 +1 known missense c.1156 p.D386N 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D30 HGNC ENSG00000111490 tier1 - - 52 0 0.00 38 10 20.83 123 0 0.00 64 31 32.63 GRM3 0 genome.wustl.edu 37 7 86468384 86468384 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 86468384 86468384 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.1554 p.M518I 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 39 0 0.00 20 5 20.00 100 0 0.00 47 13 21.67 FMO6P 0 genome.wustl.edu 37 1 171116864 171116864 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 171116864 171116864 C T SNP FMO6P ENST00000236166 human ensembl 74_37 +1 novel missense c.584 p.S195L 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1 - no_errors FMO6P HGNC ENSG00000117507 tier1 - - 78 0 0.00 50 40 44.44 114 0 0.00 65 30 31.58 SLC9A9 0 genome.wustl.edu 37 3 142985705 142985705 + Nonsense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 142985705 142985705 C A SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known nonsense c.1777 p.E593* 1.000 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 tier1 - - 65 0 0.00 49 23 31.94 124 0 0.00 86 40 31.75 OR52A4 0 genome.wustl.edu 37 11 5142855 5142855 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 5142855 5142855 C T SNP OR52A4 ENST00000481634 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors OR52A4 HGNC ENSG00000205494 tier1 - - 53 0 0.00 8 10 55.56 89 0 0.00 24 49 67.12 RBM11 0 genome.wustl.edu 37 21 15599387 15599387 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 15599387 15599387 C T SNP RBM11 ENST00000400577 human ensembl 74_37 +1 known missense c.619 p.P207S 0.552 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC ENSG00000185272 tier1 - - 120 0 0.00 74 47 38.84 166 0 0.00 60 47 43.93 C14orf166B 0 genome.wustl.edu 37 14 77323731 77323731 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 77323731 77323731 G A SNP C14orf166B ENST00000393774 human ensembl 74_37 +1 known silent c.1017 p.L339 0.967 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 tier1 - - 45 0 0.00 26 23 46.94 92 0 0.00 67 36 34.62 ENSG00000235772 0 genome.wustl.edu 37 21 43982044 43982044 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 43982044 43982044 C T SNP ENSG00000235772 ENST00000442605 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AP001625.6 Clone_based_vega_gene ENSG00000235772 tier1 - - 22 0 0.00 10 5 33.33 47 0 0.00 38 16 29.63 SCN10A 0 genome.wustl.edu 37 3 38835493 38835493 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 38835493 38835493 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.9 p.F3 0.673 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 20 0 0.00 19 10 34.48 127 0 0.00 78 46 37.10 LTN1 0 genome.wustl.edu 37 21 30303544 30303544 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 30303544 30303544 C T SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.5309 p.G1770D 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 tier1 - - 111 0 0.00 71 18 20.22 129 0 0.00 85 39 31.20 A2M 0 genome.wustl.edu 37 12 9266087 9266087 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 9266087 9266087 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.139 p.G47S 0.783 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 tier1 - - 70 0 0.00 20 17 45.95 27 0 0.00 15 7 31.82 MEI4 0 genome.wustl.edu 37 6 78632890 78632890 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 78632890 78632890 G A SNP MEI4 ENST00000602452 human ensembl 74_37 +1 novel missense c.985 p.E329K 0.000 NULL NULL - no_errors MEI4 HGNC ENSG00000269964 tier1 - - 110 0 0.00 66 37 35.92 145 0 0.00 89 29 24.58 CR1L 0 genome.wustl.edu 37 1 207883864 207883864 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 207883864 207883864 G A SNP CR1L ENST00000530905 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CR1L HGNC ENSG00000197721 tier1 - - 133 0 0.00 97 31 24.22 19 0 0.00 10 3 23.08 OR6C6 0 genome.wustl.edu 37 12 55688164 55688164 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 55688164 55688164 G A SNP OR6C6 ENST00000358433 human ensembl 74_37 -1 known missense c.853 p.P285S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C6 HGNC ENSG00000188324 tier1 - - 97 0 0.00 52 20 27.78 98 0 0.00 44 17 27.87 CCDC170 0 genome.wustl.edu 37 6 151894524 151894524 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 151894524 151894524 C T SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known silent c.990 p.I330 0.001 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 tier1 - - 55 0 0.00 37 12 24.49 100 0 0.00 50 17 25.37 CATSPERB 0 genome.wustl.edu 37 14 92058283 92058283 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 92058283 92058283 C T SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.2773 p.D925N 0.000 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 tier1 - - 99 0 0.00 102 38 27.14 116 0 0.00 93 20 17.70 UROC1 0 genome.wustl.edu 37 3 126236446 126236446 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 126236446 126236446 C T SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known silent c.117 p.V39 0.000 NULL pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 tier1 - - 171 0 0.00 83 66 44.30 35 0 0.00 14 8 36.36 MSGN1 0 genome.wustl.edu 37 2 17997809 17997809 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 17997809 17997809 C T SNP MSGN1 ENST00000281047 human ensembl 74_37 +1 known silent c.24 p.F8 0.501 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSGN1 HGNC ENSG00000151379 tier1 - - 30 0 0.00 24 7 22.58 22 0 0.00 17 4 19.05 PITRM1 0 genome.wustl.edu 37 10 3180243 3180243 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 3180243 3180243 G A SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.3097 p.P1033S 1.000 NULL pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 tier1 - - 21 0 0.00 23 6 20.69 85 0 0.00 61 31 32.98 TRIM27 0 genome.wustl.edu 37 6 28872289 28872289 + Missense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 28872289 28872289 A T SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.1100 p.I367N 0.999 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 tier1 - - 81 0 0.00 47 24 33.80 143 1 0.69 70 34 32.38 RAD18 0 genome.wustl.edu 37 3 8983159 8983159 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 8983159 8983159 A G SNP RAD18 ENST00000264926 human ensembl 74_37 -1 known missense c.596 p.V199A 0.001 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 tier1 - - 75 0 0.00 57 17 22.97 97 0 0.00 78 24 23.53 EBF2 0 genome.wustl.edu 37 8 25747297 25747297 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 25747297 25747297 C T SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.722 p.R241Q 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 tier1 - - 49 0 0.00 17 22 56.41 81 0 0.00 14 23 62.16 AKAP4 0 genome.wustl.edu 37 X 49957156 49957156 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 49957156 49957156 G A SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known silent c.2208 p.F736 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 tier1 - - 22 0 0.00 2 11 84.62 49 0 0.00 12 35 74.47 MUC16 0 genome.wustl.edu 37 19 9070805 9070805 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 9070805 9070805 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.16641 p.M5547I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 55 0 0.00 13 32 71.11 133 0 0.00 37 81 68.07 EXPH5 0 genome.wustl.edu 37 11 108384720 108384720 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 108384720 108384720 C T SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.1514 p.R505K 0.997 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 tier1 - - 43 0 0.00 25 41 62.12 125 0 0.00 48 60 55.05 MMP20 0 genome.wustl.edu 37 11 102487583 102487583 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 102487583 102487583 G A SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known missense c.334 p.P112S 1.000 pirsf_Pept_M10A_Metazoans 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,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 tier1 - - 58 0 0.00 24 32 57.14 145 0 0.00 65 66 50.38 INF2 0 genome.wustl.edu 37 14 105185251 105185251 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 105185251 105185251 C T SNP INF2 ENST00000481338 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors INF2 HGNC ENSG00000203485 tier1 - - 56 0 0.00 35 20 36.36 47 0 0.00 30 21 41.18 MTPAP 0 genome.wustl.edu 37 10 30602582 30602582 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 30602582 30602582 A G SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.2095 p.F699L 0.000 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 tier1 - - 142 0 0.00 93 62 40.00 157 0 0.00 103 61 36.75 TMEM132C 0 genome.wustl.edu 37 12 129190240 129190240 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 129190240 129190240 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known silent c.2727 p.E909 0.998 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 67 0 0.00 33 10 23.26 53 0 0.00 25 11 30.56 ARRDC5 0 genome.wustl.edu 37 19 4891307 4891307 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 4891307 4891307 G A SNP ARRDC5 ENST00000381781 human ensembl 74_37 -1 known silent c.780 p.T260 0.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ENSG00000205784 tier1 - - 36 0 0.00 8 21 72.41 51 0 0.00 13 28 68.29 ENSG00000273189 0 genome.wustl.edu 37 19 49990766 49990766 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 49990766 49990766 C T SNP ENSG00000273189 ENST00000595815 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3148I10.15 Clone_based_vega_gene ENSG00000273189 tier1 - - 67 0 0.00 63 26 29.21 38 0 0.00 35 6 14.63 CHD6 0 genome.wustl.edu 37 20 40162001 40162001 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 40162001 40162001 C T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.242 p.G81E 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 tier1 - - 95 0 0.00 49 36 42.35 102 0 0.00 75 32 29.36 SPTB 0 genome.wustl.edu 37 14 65240025 65240025 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 65240025 65240025 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.5091 p.R1697 0.962 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 tier1 - - 61 0 0.00 29 25 46.30 73 0 0.00 40 22 34.92 SLC7A9 0 genome.wustl.edu 37 19 33333197 33333197 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 33333197 33333197 G A SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known silent c.1101 p.I367 0.978 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 76 0 0.00 47 35 42.68 106 0 0.00 83 46 35.66 NLRP3 0 genome.wustl.edu 37 1 247587615 247587615 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 247587615 247587615 C T SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known silent c.870 p.I290 0.043 superfamily_P-loop_NTPase,pfscan_CHT_NTPase 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 NLRP3 HGNC ENSG00000162711 tier1 rs200900704 - 43 0 0.00 27 7 20.59 124 0 0.00 59 19 24.36 CKAP4 0 genome.wustl.edu 37 12 106633620 106633620 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 106633620 106633620 G A SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known missense c.991 p.L331F 1.000 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 tier1 - - 55 0 0.00 35 13 27.08 32 0 0.00 21 7 25.00 DCHS2 0 genome.wustl.edu 37 4 155191119 155191119 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 155191119 155191119 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.5145 p.Q1715 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 205 0 0.00 58 83 58.87 92 0 0.00 16 46 74.19 ENSG00000257743 0 genome.wustl.edu 37 7 141897286 141897286 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 141897286 141897286 C T SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative silent c.4719 p.L1573 0.997 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 59 0 0.00 41 9 17.65 100 0 0.00 54 24 30.77 SIM1 0 genome.wustl.edu 37 6 100898230 100898230 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 100898230 100898230 G A SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.261 p.T87 0.732 pfam_PAS_fold,smart_PAS,pfscan_PAS pfam_SIM_C,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 SIM1 HGNC ENSG00000112246 tier1 - - 53 0 0.00 32 15 31.91 130 0 0.00 39 30 43.48 SLCO4C1 0 genome.wustl.edu 37 5 101631964 101631964 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 101631964 101631964 C T SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.3 p.M1I 0.974 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 tier1 - - 69 0 0.00 16 29 64.44 87 0 0.00 16 27 62.79 TIMELESS 0 genome.wustl.edu 37 12 56814777 56814777 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 56814777 56814777 C T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.3010 p.E1004K 0.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 - - 48 0 0.00 18 9 33.33 119 0 0.00 58 37 38.95 ZNF165 0 genome.wustl.edu 37 6 28056768 28056768 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 28056768 28056768 C T SNP ZNF165 ENST00000377325 human ensembl 74_37 +1 known silent c.978 p.F326 0.183 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF165 HGNC ENSG00000197279 tier1 - - 83 0 0.00 43 23 34.85 122 0 0.00 53 38 41.76 SLC15A2 0 genome.wustl.edu 37 3 121647306 121647306 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 121647306 121647306 C T SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known silent c.1245 p.F415 0.997 pfam_POT_fam,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 tier1 - - 70 0 0.00 47 28 37.33 92 0 0.00 91 42 31.58 ANKRD36 0 genome.wustl.edu 37 2 97830045 97830045 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 97830045 97830045 C T SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known silent c.1455 p.F485 0.102 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 tier1 - - 94 0 0.00 47 20 29.85 57 0 0.00 28 8 22.22 ANKRD45 0 genome.wustl.edu 37 1 173616058 173616058 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 173616058 173616058 G A SNP ANKRD45 ENST00000333279 human ensembl 74_37 -1 known silent c.423 p.F141 0.996 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD45 HGNC ENSG00000183831 tier1 - - 91 0 0.00 64 21 24.71 121 0 0.00 70 11 13.58 WDR87 0 genome.wustl.edu 37 19 38378106 38378106 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 38378106 38378106 C T SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.6205 p.E2069K 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 75 0 0.00 49 20 28.99 141 0 0.00 139 28 16.77 ERC2 0 genome.wustl.edu 37 3 56468889 56468889 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 56468889 56468889 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known silent c.147 p.I49 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 32 0 0.00 15 11 42.31 96 0 0.00 71 31 30.39 SLC6A18 0 genome.wustl.edu 37 5 1244846 1244846 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 1244846 1244846 G A SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known nonsense c.1620 p.W540* 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 tier1 - - 96 0 0.00 43 41 48.81 94 0 0.00 32 34 50.75 ENSG00000250026 0 genome.wustl.edu 37 4 69056803 69056803 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 69056803 69056803 C T SNP ENSG00000250026 ENST00000504453 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-646E20.6 Clone_based_vega_gene ENSG00000250026 tier1 - - 21 0 0.00 4 4 50.00 93 1 1.06 20 18 47.37 FAM83B 0 genome.wustl.edu 37 6 54806762 54806762 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 54806762 54806762 G A SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.2993 p.G998E 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 tier1 - - 83 0 0.00 55 20 26.67 144 0 0.00 102 41 28.47 RELN 0 genome.wustl.edu 37 7 103126803 103126803 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 103126803 103126803 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.9824 p.S3275F 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 58 0 0.00 32 22 40.74 79 0 0.00 38 12 24.00 MSI2 0 genome.wustl.edu 37 17 55704590 55704590 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 55704590 55704590 G A SNP MSI2 ENST00000284073 human ensembl 74_37 +1 known missense c.653 p.G218E 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI2 HGNC ENSG00000153944 tier1 - - 74 0 0.00 8 31 79.49 134 0 0.00 33 51 60.71 PLXDC2 0 genome.wustl.edu 37 10 20290848 20290848 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 20290848 20290848 C T SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known missense c.257 p.S86F 0.990 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 tier1 - - 63 0 0.00 42 30 41.67 92 0 0.00 53 44 44.90 LINC00670 0 genome.wustl.edu 37 17 12493784 12493784 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 12493784 12493784 C T SNP LINC00670 ENST00000313495 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC00670 HGNC ENSG00000179136 tier1 - - 52 0 0.00 7 19 73.08 98 0 0.00 23 29 55.77 USH1C 0 genome.wustl.edu 37 11 17537820 17537820 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 17537820 17537820 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1228 p.R410C 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 tier1 - - 123 0 0.00 105 15 12.50 162 0 0.00 95 15 13.51 IMPG1 0 genome.wustl.edu 37 6 76731937 76731937 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 76731937 76731937 C T SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known splice_site c.563-1 e6-1 0.982 - - - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 51 0 0.00 40 15 27.27 42 0 0.00 40 21 34.43 KRTAP10-3 0 genome.wustl.edu 37 21 45977988 45977988 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 45977988 45977988 G A SNP KRTAP10-3 ENST00000391620 human ensembl 74_37 -1 known missense c.611 p.S204F 0.261 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 tier1 - - 66 0 0.00 40 18 31.03 6 0 0.00 10 5 33.33 MLIP 0 genome.wustl.edu 37 6 53989330 53989330 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 53989330 53989330 G A SNP MLIP ENST00000274897 human ensembl 74_37 +1 known silent c.279 p.A93 0.004 NULL NULL - no_errors MLIP HGNC ENSG00000146147 tier1 rs200776368 - 78 0 0.00 34 24 41.38 130 0 0.00 66 51 43.59 OR2L2 0 genome.wustl.edu 37 1 248201652 248201652 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 248201652 248201652 C T SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.83 p.T28I 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 tier1 - - 164 1 0.61 110 33 23.08 42 0 0.00 38 10 20.83 TCEB3CL2 0 genome.wustl.edu 37 18 44543450 44543450 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 44543450 44543450 C T SNP TCEB3CL2 ENST00000591973 human ensembl 74_37 -1 known missense c.922 p.E308K 0.002 NULL pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC ENSG00000266996 tier1 - - 77 0 0.00 57 13 18.57 33 0 0.00 32 6 15.79 ZP4 0 genome.wustl.edu 37 1 238050814 238050814 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 238050814 238050814 G A SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.601 p.R201W 0.563 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 tier1 - - 32 0 0.00 20 8 28.57 168 0 0.00 75 33 30.56 OR6C65 0 genome.wustl.edu 37 12 55795213 55795213 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 55795213 55795213 G A SNP OR6C65 ENST00000379665 human ensembl 74_37 +1 known missense c.901 p.E301K 0.000 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C65 HGNC ENSG00000205328 tier1 - - 107 0 0.00 50 18 26.47 95 0 0.00 64 27 29.67 LRRC31 0 genome.wustl.edu 37 3 169571369 169571369 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 169571369 169571369 C T SNP LRRC31 ENST00000397805 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors LRRC31 HGNC ENSG00000114248 tier1 - - 65 0 0.00 53 21 28.38 188 1 0.53 115 63 35.39 UMODL1 0 genome.wustl.edu 37 21 43557616 43557616 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 43557616 43557616 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.4227 p.F1409 0.000 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 56 0 0.00 28 25 47.17 103 0 0.00 32 15 31.91 ILDR1 0 genome.wustl.edu 37 3 121741010 121741010 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 121741010 121741010 C T SNP ILDR1 ENST00000460554 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ILDR1 HGNC ENSG00000145103 tier1 - - 44 0 0.00 42 20 32.26 37 0 0.00 28 8 22.22 DOCK1 0 genome.wustl.edu 37 10 128830476 128830476 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 128830476 128830476 G A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.1741 p.G581S 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 tier1 - - 28 0 0.00 3 10 76.92 75 0 0.00 17 35 67.31 ADAMTS3 0 genome.wustl.edu 37 4 73205402 73205402 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 73205402 73205402 G A SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.670 p.L224 0.370 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 tier1 - - 39 0 0.00 9 23 71.88 133 0 0.00 42 44 50.57 TMPRSS11F 0 genome.wustl.edu 37 4 68939712 68939712 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 68939712 68939712 G A SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known nonsense c.298 p.R100* 1.000 pirsf_Pept_S1A_HAT/DESC1,pfam_SEA_dom,pfscan_SEA_dom pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 tier1 - - 173 0 0.00 54 65 54.62 41 0 0.00 28 23 45.10 JAKMIP2 0 genome.wustl.edu 37 5 146971234 146971234 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 146971234 146971234 C T SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.2428 p.G810R 0.982 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 57 0 0.00 17 26 60.47 80 0 0.00 32 36 52.94 ANXA3 0 genome.wustl.edu 37 4 79507444 79507444 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 79507444 79507444 G A SNP ANXA3 ENST00000264908 human ensembl 74_37 +1 known missense c.343 p.E115K 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII - no_errors ANXA3 HGNC ENSG00000138772 tier1 - - 156 0 0.00 45 63 58.33 93 0 0.00 29 17 36.96 PDE7B 0 genome.wustl.edu 37 6 136508238 136508238 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 136508238 136508238 C T SNP PDE7B ENST00000308191 human ensembl 74_37 +1 known silent c.1110 p.I370 0.998 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 tier1 - - 76 0 0.00 46 23 33.33 137 0 0.00 83 31 26.96 IDO2 0 genome.wustl.edu 37 8 39873083 39873083 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 39873083 39873083 G A SNP IDO2 ENST00000502986 human ensembl 74_37 +1 known missense c.1225 p.D409N 1.000 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 tier1 - - 40 0 0.00 15 8 34.78 131 0 0.00 32 35 52.24 B4GALT3 0 genome.wustl.edu 37 1 161141446 161141446 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 161141446 161141446 C T SNP B4GALT3 ENST00000470882 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors B4GALT3 HGNC ENSG00000158850 tier1 - - 78 0 0.00 50 10 16.67 70 0 0.00 45 15 25.00 NOL4 0 genome.wustl.edu 37 18 31537439 31537439 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 31537439 31537439 C T SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known missense c.1279 p.V427I 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 tier1 - - 74 0 0.00 15 24 61.54 111 0 0.00 31 52 62.65 PRG4 0 genome.wustl.edu 37 1 186280283 186280283 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 186280283 186280283 G A SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.3617 p.G1206E 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 - - 84 0 0.00 42 27 39.13 97 0 0.00 49 40 44.44 C2CD2 0 genome.wustl.edu 37 21 43329576 43329576 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 43329576 43329576 G A SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known missense c.1010 p.S337F 0.034 pfam_C2_dom,superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 tier1 - - 37 0 0.00 24 7 22.58 64 0 0.00 34 20 37.04 SULF2 0 genome.wustl.edu 37 20 46300964 46300964 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 46300964 46300964 G A SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known silent c.1554 p.R518 0.917 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 tier1 - - 49 0 0.00 33 27 44.26 96 0 0.00 46 32 41.03 AARS 0 genome.wustl.edu 37 16 70287878 70287878 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 70287878 70287878 G A SNP AARS ENST00000261772 human ensembl 74_37 -1 known silent c.2464 p.L822 0.968 tigrfam_Ala-tR-lgiase_IIc pfam_Ala-tR-synth_IIc_N,pfam_tR_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tR-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tR-synth_IIc_edit,smart_tR_SAD,prints_Ala-tR-lgiase_IIc,pfscan_Ala-tR-synth_IIc_core,tigrfam_Ala-tR-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 tier1 - - 31 0 0.00 26 11 29.73 87 0 0.00 57 43 42.57 KCNJ5 0 genome.wustl.edu 37 11 128781835 128781835 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 128781835 128781835 G A SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known missense c.667 p.D223N 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 tier1 - - 53 0 0.00 25 9 26.47 88 0 0.00 82 12 12.77 CAC2D1 0 genome.wustl.edu 37 7 81667533 81667533 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 81667533 81667533 C T SNP CAC2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.898 p.D300N 0.974 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CAC2D1 HGNC ENSG00000153956 tier1 - - 100 0 0.00 46 20 30.30 99 0 0.00 41 18 30.51 PAPPA 0 genome.wustl.edu 37 9 118997664 118997664 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 118997664 118997664 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.2480 p.S827F 1.000 superfamily_Fibronectin_type3 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 43 0 0.00 5 14 73.68 97 0 0.00 26 33 55.93 DCDC1 0 genome.wustl.edu 37 11 30974057 30974057 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 30974057 30974057 C T SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2650 p.E884K 1.000 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 110 0 0.00 73 18 19.78 139 0 0.00 118 20 14.49 CSMD2 0 genome.wustl.edu 37 1 34166166 34166166 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 34166166 34166166 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.3684 p.F1228 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 95 0 0.00 63 20 24.10 96 1 1.03 83 13 13.54 RETNLB 0 genome.wustl.edu 37 3 108476006 108476006 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 108476006 108476006 G A SNP RETNLB ENST00000295755 human ensembl 74_37 -1 known silent c.27 p.L9 0.981 pfam_Resistin pfam_Resistin,superfamily_Resistin - no_errors RETNLB HGNC ENSG00000163515 tier1 - - 76 0 0.00 57 24 29.63 92 0 0.00 67 20 22.99 GALNT8 0 genome.wustl.edu 37 12 4848348 4848348 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 4848348 4848348 C T SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.529 p.P177S 0.505 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 tier1 - - 77 0 0.00 40 18 31.03 82 0 0.00 37 17 31.48 TRANK1 0 genome.wustl.edu 37 3 36873197 36873197 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 36873197 36873197 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7745 p.S2582F 0.155 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 22 0 0.00 17 12 41.38 75 0 0.00 48 25 34.25 ATAD2 0 genome.wustl.edu 37 8 124359475 124359475 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 124359475 124359475 G A SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.2069 p.S690F 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 - - 61 0 0.00 55 48 46.60 69 0 0.00 42 60 58.25 CABIN1 0 genome.wustl.edu 37 22 24483564 24483564 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 24483564 24483564 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.3423 p.S1141 0.962 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 - - 46 0 0.00 21 11 34.38 118 0 0.00 50 31 38.27 STARD13 0 genome.wustl.edu 37 13 33703736 33703736 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 33703736 33703736 C T SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.1078 p.G360R 0.990 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 27 0 0.00 10 5 33.33 24 0 0.00 16 5 23.81 ZNF804A 0 genome.wustl.edu 37 2 185731112 185731112 + Missense_Mutation SNP A A C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 185731112 185731112 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.128 p.E43A 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 85 0 0.00 59 7 10.61 77 0 0.00 40 16 28.57 FAM184A 0 genome.wustl.edu 37 6 119345477 119345477 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 119345477 119345477 C T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.661 p.E221K 0.906 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 tier1 - - 69 0 0.00 19 9 32.14 136 0 0.00 67 44 39.29 RRP15 0 genome.wustl.edu 37 1 218475648 218475648 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 218475648 218475648 C T SNP RRP15 ENST00000366932 human ensembl 74_37 +1 known missense c.152 p.S51L 0.000 NULL pfam_DUF1665 - no_errors RRP15 HGNC ENSG00000067533 tier1 - - 40 0 0.00 32 7 17.95 98 0 0.00 53 19 25.68 GPR158 0 genome.wustl.edu 37 10 25888186 25888186 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 25888186 25888186 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3631 p.D1211N 0.871 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 42 0 0.00 26 21 44.68 83 0 0.00 79 38 32.48 ESYT1 0 genome.wustl.edu 37 12 56524694 56524694 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 56524694 56524694 G A SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known silent c.552 p.V184 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 tier1 - - 67 0 0.00 36 12 25.00 137 0 0.00 50 24 32.43 PRDM15 0 genome.wustl.edu 37 21 43221686 43221686 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 43221686 43221686 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.4238 p.T1413I 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 56 0 0.00 30 16 34.78 82 0 0.00 70 36 33.96 KIAA1033 0 genome.wustl.edu 37 12 105515911 105515911 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 105515911 105515911 C T SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known silent c.681 p.V227 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 tier1 - - 152 0 0.00 105 35 25.00 100 0 0.00 65 21 24.14 SLC9C2 0 genome.wustl.edu 37 1 173490500 173490500 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 173490500 173490500 G A SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known silent c.2679 p.T893 0.999 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 222 0 0.00 167 60 26.43 66 0 0.00 50 20 28.57 TMEM132C 0 genome.wustl.edu 37 12 129100730 129100730 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 129100730 129100730 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.1155 p.M385I 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 58 0 0.00 40 17 29.82 75 1 1.32 49 12 19.67 DH14 0 genome.wustl.edu 37 1 225555685 225555685 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 225555685 225555685 G A SNP DH14 ENST00000430092 human ensembl 74_37 +1 known missense c.11990 p.G3997E 0.985 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DH14 HGNC ENSG00000185842 tier1 - - 141 0 0.00 54 50 48.08 135 0 0.00 60 36 37.50 LRRC28 0 genome.wustl.edu 37 15 99892629 99892629 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 99892629 99892629 G A SNP LRRC28 ENST00000301981 human ensembl 74_37 +1 known silent c.648 p.L216 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 tier1 - - 126 0 0.00 59 32 35.16 74 0 0.00 43 25 36.76 SLC5A1 0 genome.wustl.edu 37 22 32445989 32445989 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 32445989 32445989 G A SNP SLC5A1 ENST00000266088 human ensembl 74_37 +1 known missense c.195 p.M65I 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 SLC5A1 HGNC ENSG00000100170 tier1 - - 125 0 0.00 95 36 27.48 141 0 0.00 105 60 36.36 LINGO2 0 genome.wustl.edu 37 9 27949180 27949180 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 27949180 27949180 G A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1490 p.S497F 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 - - 90 0 0.00 31 16 34.04 128 0 0.00 33 23 41.07 ZMYM6 0 genome.wustl.edu 37 1 35449537 35449537 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 35449537 35449537 G A SNP ZMYM6 ENST00000373340 human ensembl 74_37 -1 known missense c.2158 p.R720C 0.793 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 29 0 0.00 22 8 26.67 101 0 0.00 110 27 19.71 GRM2 0 genome.wustl.edu 37 3 51751814 51751814 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 51751814 51751814 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known silent c.2526 p.A842 0.992 prints_GPCR_3_mtglu_rcpt_2 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 tier1 - - 80 0 0.00 37 30 44.12 55 0 0.00 22 15 40.54 PCLO 0 genome.wustl.edu 37 7 82451789 82451789 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 82451789 82451789 G A SNP PCLO ENST00000426442 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PCLO HGNC ENSG00000186472 tier1 - - 38 0 0.00 23 5 17.86 98 1 1.01 55 17 23.61 CAC1D 0 genome.wustl.edu 37 3 53699708 53699708 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 53699708 53699708 C T SNP CAC1D ENST00000288139 human ensembl 74_37 +1 known missense c.788 p.S263F 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CAC1D HGNC ENSG00000157388 tier1 - - 107 0 0.00 107 31 22.46 116 0 0.00 102 33 24.26 TTN 0 genome.wustl.edu 37 2 179592524 179592524 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179592524 179592524 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16049 p.K5350R 1.000 pfam_Ig_I-set,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 - - 95 0 0.00 40 31 43.66 123 0 0.00 65 35 35.00 CBLN4 0 genome.wustl.edu 37 20 54573791 54573791 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 54573791 54573791 C T SNP CBLN4 ENST00000064571 human ensembl 74_37 -1 known missense c.428 p.G143E 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 tier1 - - 78 0 0.00 66 25 27.47 133 0 0.00 115 69 37.50 TRPM3 0 genome.wustl.edu 37 9 73376619 73376619 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 73376619 73376619 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.1251 p.R417 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 67 0 0.00 17 48 73.85 147 0 0.00 49 65 57.02 ENSG00000188477 0 genome.wustl.edu 37 16 19318954 19318954 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 19318954 19318954 C T SNP ENSG00000188477 ENST00000468219 human ensembl 74_37 +1 known rna NULL NULL 0.955 - - - no_errors AC003003.5 Clone_based_vega_gene ENSG00000188477 tier1 - - 31 0 0.00 24 14 36.84 101 0 0.00 48 32 40.00 DH5 0 genome.wustl.edu 37 5 13770872 13770872 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 13770872 13770872 C T SNP DH5 ENST00000265104 human ensembl 74_37 -1 known silent c.9591 p.R3197 0.994 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH5 HGNC ENSG00000039139 tier1 - - 50 0 0.00 20 19 47.50 98 0 0.00 65 44 40.37 SLC26A8 0 genome.wustl.edu 37 6 35965594 35965594 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 35965594 35965594 G A SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.548 p.S183L 0.345 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 tier1 - - 95 0 0.00 66 35 34.31 152 1 0.65 73 41 35.96 TTBK2 0 genome.wustl.edu 37 15 43045091 43045091 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 43045091 43045091 C T SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known missense c.2353 p.E785K 0.978 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 - no_errors TTBK2 HGNC ENSG00000128881 tier1 - - 71 0 0.00 26 28 51.85 136 0 0.00 35 55 60.44 FMN2 0 genome.wustl.edu 37 1 240371408 240371408 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 240371408 240371408 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3296 p.P1099L 0.476 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 73 0 0.00 23 10 30.30 15 0 0.00 11 2 15.38 KIAA0368 0 genome.wustl.edu 37 9 114182297 114182297 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 114182297 114182297 G A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.2093 p.P698L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 tier1 - - 176 0 0.00 59 76 56.30 95 0 0.00 31 39 55.71 PRSS58 0 genome.wustl.edu 37 7 141952291 141952291 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 141952291 141952291 C T SNP PRSS58 ENST00000547058 human ensembl 74_37 -1 known splice_site c.576+1 e4+1 1.000 - - - no_errors PRSS58 HGNC ENSG00000258223 tier1 - - 92 0 0.00 62 20 24.39 83 0 0.00 31 20 39.22 OCIAD1 0 genome.wustl.edu 37 4 48834668 48834668 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 48834668 48834668 G A SNP OCIAD1 ENST00000264312 human ensembl 74_37 +1 known silent c.27 p.E9 1.000 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 tier1 - - 180 0 0.00 96 66 40.74 87 0 0.00 59 35 37.23 TP53BP1 0 genome.wustl.edu 37 15 43767783 43767783 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 43767783 43767783 A G SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known silent c.1065 p.L355 0.996 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 tier1 - - 66 0 0.00 9 22 70.97 91 0 0.00 27 29 50.00 LOC100129434 0 genome.wustl.edu 37 2 56403037 56403037 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 56403037 56403037 G A SNP LOC100129434 ENST00000432793 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors AC007743.1 Clone_based_vega_gene ENSG00000233251 tier1 - - 23 0 0.00 11 9 45.00 97 0 0.00 58 49 45.79 V3 0 genome.wustl.edu 37 12 78444660 78444660 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 78444660 78444660 G A SNP V3 ENST00000397909 human ensembl 74_37 +1 known missense c.2249 p.R750Q 0.978 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors V3 HGNC ENSG00000067798 tier1 - - 22 0 0.00 17 7 29.17 68 0 0.00 23 9 28.12 LRRC16A 0 genome.wustl.edu 37 6 25492028 25492028 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 25492028 25492028 C T SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel silent c.1134 p.S378 0.779 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 58 0 0.00 33 7 17.50 67 1 1.47 26 14 35.00 GRID2 0 genome.wustl.edu 37 4 94376855 94376855 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 94376855 94376855 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.1588 p.R530C 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 27 0 0.00 12 13 52.00 134 0 0.00 40 45 52.94 KIR3DL1 0 genome.wustl.edu 37 19 55341613 55341613 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 55341613 55341613 C T SNP KIR3DL1 ENST00000391728 human ensembl 74_37 +1 known silent c.1218 p.F406 0.038 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 - - 147 0 0.00 75 54 41.86 31 0 0.00 10 11 52.38 SALL1 0 genome.wustl.edu 37 16 51171431 51171431 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 51171431 51171431 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.3567 p.T1189 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 52 0 0.00 37 14 27.45 17 0 0.00 18 7 28.00 ACKR2 0 genome.wustl.edu 37 3 42906960 42906960 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 42906960 42906960 C T SNP ACKR2 ENST00000273145 human ensembl 74_37 +1 known silent c.966 p.Y322 0.798 prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR2 HGNC ENSG00000144648 tier1 - - 31 0 0.00 13 12 48.00 94 1 1.05 66 39 37.14 OR2T8 0 genome.wustl.edu 37 1 248084342 248084342 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 248084342 248084342 C T SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.23 p.S8F 0.016 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 tier1 - - 124 0 0.00 56 34 37.78 101 0 0.00 46 40 46.51 SLC12A5 0 genome.wustl.edu 37 20 44664103 44664103 + Missense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 44664103 44664103 A T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.277 p.N93Y 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 54 0 0.00 36 14 28.00 68 0 0.00 47 21 30.88 FCGR3A 0 genome.wustl.edu 37 1 161518431 161518431 + Missense_Mutation SNP T T G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 161518431 161518431 T G SNP FCGR3A ENST00000367969 human ensembl 74_37 -1 known missense c.207 p.Q69H 0.007 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3A HGNC ENSG00000203747 tier1 - - 112 0 0.00 83 16 16.16 81 0 0.00 48 7 12.73 ZNF578 0 genome.wustl.edu 37 19 53015037 53015037 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 53015037 53015037 C T SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.1403 p.S468L 0.000 pfam_Znf_C2H2,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 ZNF578 HGNC ENSG00000258405 tier1 - - 90 0 0.00 32 33 50.77 20 0 0.00 14 11 42.31 TIE1 0 genome.wustl.edu 37 1 43785016 43785016 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 43785016 43785016 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known silent c.3033 p.T1011 0.004 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 51 0 0.00 19 18 48.65 59 0 0.00 47 38 44.71 HYOU1 0 genome.wustl.edu 37 11 118917283 118917283 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 118917283 118917283 G A SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.2827 p.P943S 0.997 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 rs201317769 GMAF=0.0005 48 0 0.00 47 6 11.32 112 0 0.00 76 11 12.64 IL5RA 0 genome.wustl.edu 37 3 3146626 3146626 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 3146626 3146626 T C SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.43 p.T15A 0.000 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 tier1 - - 123 0 0.00 82 32 28.07 131 0 0.00 85 36 29.75 STARD13 0 genome.wustl.edu 37 13 33700362 33700362 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 33700362 33700362 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.1938 p.F646 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 39 0 0.00 27 8 22.86 119 0 0.00 60 12 16.67 CLEC4D 0 genome.wustl.edu 37 12 8673727 8673727 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 8673727 8673727 C A SNP CLEC4D ENST00000299665 human ensembl 74_37 +1 known missense c.508 p.H170N 0.265 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 tier1 - - 78 0 0.00 66 11 14.29 108 0 0.00 54 25 31.65 PUM1 0 genome.wustl.edu 37 1 31447610 31447610 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 31447610 31447610 G A SNP PUM1 ENST00000426105 human ensembl 74_37 -1 known missense c.1394 p.P465L 1.000 NULL pfam_Pumilio_R-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_R-bd_rpt,pfscan_Pumilio_R-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 tier1 - - 93 0 0.00 38 46 54.76 83 0 0.00 56 43 43.43 C11orf85 0 genome.wustl.edu 37 11 64717233 64717233 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 64717233 64717233 G A SNP C11orf85 ENST00000301896 human ensembl 74_37 -1 known missense c.331 p.H111Y 0.920 NULL NULL - no_errors C11orf85 HGNC ENSG00000168070 tier1 - - 86 0 0.00 47 22 31.88 110 0 0.00 70 35 33.33 GPATCH1 0 genome.wustl.edu 37 19 33608775 33608775 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 33608775 33608775 C T SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known silent c.2241 p.S747 0.903 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 tier1 - - 29 0 0.00 21 18 46.15 116 1 0.85 95 52 35.37 UVRAG 0 genome.wustl.edu 37 11 75826996 75826996 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 75826996 75826996 C T SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.1334 p.P445L 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 tier1 - - 102 0 0.00 56 43 43.43 113 0 0.00 57 48 45.71 CTLA4 0 genome.wustl.edu 37 2 204735524 204735524 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 204735524 204735524 G A SNP CTLA4 ENST00000302823 human ensembl 74_37 +1 known missense c.325 p.G109R 0.431 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4 - no_errors CTLA4 HGNC ENSG00000163599 tier1 - - 88 0 0.00 53 8 13.11 117 1 0.85 74 11 12.94 FRY 0 genome.wustl.edu 37 13 32698812 32698812 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 32698812 32698812 A G SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.629 p.K210R 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 119 0 0.00 70 25 26.32 112 0 0.00 57 22 27.85 TOPAZ1 0 genome.wustl.edu 37 3 44285650 44285650 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 44285650 44285650 C T SNP TOPAZ1 ENST00000309765 human ensembl 74_37 +1 known missense c.1652 p.S551F 0.023 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 tier1 - - 144 0 0.00 101 50 33.11 163 1 0.61 122 68 35.79 TRIML2 0 genome.wustl.edu 37 4 189012654 189012654 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 189012654 189012654 G A SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.1037 p.S346F 0.965 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 74 0 0.00 29 41 58.57 150 0 0.00 45 60 57.14 ALMS1P 0 genome.wustl.edu 37 2 73912407 73912407 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 73912407 73912407 G A SNP ALMS1P ENST00000450720 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ALMS1P HGNC ENSG00000163016 tier1 - - 11 0 0.00 4 6 60.00 126 0 0.00 62 53 45.69 COL6A6 0 genome.wustl.edu 37 3 130292993 130292993 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 130292993 130292993 C T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.3171 p.F1057 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 37 0 0.00 23 18 43.90 124 0 0.00 86 61 41.22 ANKRD18B 0 genome.wustl.edu 37 9 33548696 33548696 + Missense_Mutation SNP A A C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 33548696 33548696 A C SNP ANKRD18B ENST00000290943 human ensembl 74_37 +1 known missense c.1724 p.E575A 0.028 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 tier1 - - 124 0 0.00 49 49 50.00 127 0 0.00 63 59 48.36 THSD7B 0 genome.wustl.edu 37 2 138414698 138414698 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 138414698 138414698 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known nonsense c.4352 p.W1451* 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 75 0 0.00 45 10 18.18 147 0 0.00 100 12 10.71 SLC7A2 0 genome.wustl.edu 37 8 17409438 17409438 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 17409438 17409438 G A SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known missense c.1118 p.G373E 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 tier1 - - 80 0 0.00 25 32 56.14 113 0 0.00 42 33 43.42 MYLK3 0 genome.wustl.edu 37 16 46781685 46781685 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 46781685 46781685 G A SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known missense c.421 p.L141F 0.995 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 - no_errors MYLK3 HGNC ENSG00000140795 tier1 - - 80 0 0.00 58 29 33.33 89 0 0.00 42 11 20.75 APCS 0 genome.wustl.edu 37 1 159558493 159558493 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 159558493 159558493 G T SNP APCS ENST00000255040 human ensembl 74_37 +1 known missense c.667 p.V223F 0.010 superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors APCS HGNC ENSG00000132703 tier1 - - 63 0 0.00 33 9 21.43 88 0 0.00 35 14 28.57 OVCH2 0 genome.wustl.edu 37 11 7723023 7723023 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 7723023 7723023 C T SNP OVCH2 ENST00000454689 human ensembl 74_37 -1 known splice_site c.560-1 e6-1 1.000 - - - no_errors OVCH2 HGNC ENSG00000183378 tier1 - - 43 0 0.00 23 9 28.12 86 0 0.00 61 9 12.86 UBE3D 0 genome.wustl.edu 37 6 83667038 83667038 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 83667038 83667038 G A SNP UBE3D ENST00000369747 human ensembl 74_37 -1 known missense c.1142 p.S381F 1.000 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 tier1 - - 56 0 0.00 40 15 26.79 146 0 0.00 68 32 32.00 ADCY8 0 genome.wustl.edu 37 8 131955685 131955685 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 131955685 131955685 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1265 p.G422E 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 33 0 0.00 29 11 27.50 64 0 0.00 29 13 30.23 ACKR2 0 genome.wustl.edu 37 3 42906961 42906961 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 42906961 42906961 C T SNP ACKR2 ENST00000273145 human ensembl 74_37 +1 known silent c.967 p.L323 0.996 prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR2 HGNC ENSG00000144648 tier1 - - 32 0 0.00 14 12 46.15 96 0 0.00 66 40 37.74 COL18A1 0 genome.wustl.edu 37 21 46876415 46876415 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 46876415 46876415 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.971 p.G324E 0.001 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 37 0 0.00 25 9 26.47 38 0 0.00 27 5 15.62 OR51A7 0 genome.wustl.edu 37 11 4929472 4929472 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 4929472 4929472 C T SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known silent c.873 p.Y291 0.982 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 86 0 0.00 55 9 13.85 138 0 0.00 100 16 13.79 SCN1A 0 genome.wustl.edu 37 2 166850927 166850927 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 166850927 166850927 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known splice_site c.4582-1 e25-1 1.000 - - - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 35 0 0.00 10 14 58.33 125 0 0.00 42 28 40.00 OR52E2 0 genome.wustl.edu 37 11 5080598 5080598 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 5080598 5080598 A G SNP OR52E2 ENST00000321522 human ensembl 74_37 -1 known missense c.260 p.F87S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 tier1 - - 54 0 0.00 25 22 46.81 92 0 0.00 32 28 46.67 MUT 0 genome.wustl.edu 37 6 49416591 49416591 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 49416591 49416591 T C SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.1382 p.E461G 1.000 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 tier1 - - 133 0 0.00 63 47 42.73 113 0 0.00 73 48 39.34 LIN7A 0 genome.wustl.edu 37 12 81283053 81283053 + Missense_Mutation SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 81283053 81283053 C G SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.178 p.E60Q 1.000 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 tier1 - - 109 0 0.00 61 29 32.22 155 0 0.00 76 31 28.70 MBTPS1 0 genome.wustl.edu 37 16 84093019 84093019 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 84093019 84093019 G A SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.2719 p.R907W 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 tier1 rs147197996 - 75 0 0.00 62 20 24.39 109 0 0.00 83 57 40.71 TPO 0 genome.wustl.edu 37 2 1488383 1488383 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 1488383 1488383 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.1354 p.D452N 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 36 0 0.00 18 23 56.10 83 0 0.00 19 33 63.46 GRIN2A 0 genome.wustl.edu 37 16 9916278 9916278 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 9916278 9916278 G T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.2011 p.Q671K 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 tier1 - - 74 0 0.00 57 24 29.27 53 0 0.00 30 24 44.44 MYO5C 0 genome.wustl.edu 37 15 52567795 52567795 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 52567795 52567795 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known silent c.570 p.V190 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 tier1 - - 67 0 0.00 25 24 48.98 87 0 0.00 25 11 30.56 ARL2 0 genome.wustl.edu 37 11 64785863 64785863 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 64785863 64785863 C T SNP ARL2 ENST00000246747 human ensembl 74_37 +1 known silent c.93 p.T31 0.999 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL2 HGNC ENSG00000213465 tier1 - - 57 0 0.00 53 24 31.17 148 0 0.00 101 55 35.03 PCDH15 0 genome.wustl.edu 37 10 55582496 55582496 + Missense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 55582496 55582496 A T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.4990 p.F1664I 0.858 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 95 0 0.00 22 40 64.52 145 1 0.68 42 81 65.85 VPS13D 0 genome.wustl.edu 37 1 12439591 12439591 + Missense_Mutation SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 12439591 12439591 C G SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.11131 p.Q3711E 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 52 0 0.00 40 13 24.07 115 0 0.00 83 16 16.16 BAI3 0 genome.wustl.edu 37 6 70098718 70098718 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 70098718 70098718 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.4504 p.E1502K 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 69 0 0.00 35 20 36.36 82 0 0.00 55 31 36.05 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862806 10862806 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 10862806 10862806 G A SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known silent c.102 p.G34 0.956 pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier1 - - 206 0 0.00 218 59 21.30 30 0 0.00 24 8 25.00 C12orf55 0 genome.wustl.edu 37 12 96948514 96948514 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 96948514 96948514 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.2344 p.D782N 1.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 54 0 0.00 19 14 42.42 119 0 0.00 59 27 31.40 ARID2 0 genome.wustl.edu 37 12 46300103 46300103 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 46300103 46300103 C T SNP ARID2 ENST00000479608 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARID2 HGNC ENSG00000189079 tier1 - - 111 0 0.00 71 26 26.80 147 0 0.00 81 28 25.69 MYO7A 0 genome.wustl.edu 37 11 76893564 76893564 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 76893564 76893564 C T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known silent c.3204 p.I1068 0.998 smart_MyTH4_dom,pfscan_MyTH4_dom 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 - - 45 0 0.00 40 8 16.67 116 0 0.00 47 43 47.78 SV2B 0 genome.wustl.edu 37 15 91769557 91769557 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 91769557 91769557 G A SNP SV2B ENST00000330276 human ensembl 74_37 +1 known missense c.64 p.G22S 0.993 tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 tier1 rs150480705 GMAF=0.0005 69 0 0.00 38 6 13.64 95 0 0.00 35 20 36.36 MGAM 0 genome.wustl.edu 37 7 141784363 141784363 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 141784363 141784363 C T SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative silent c.6426 p.F2142 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 150 0 0.00 85 25 22.73 146 0 0.00 52 29 35.80 CSMD2 0 genome.wustl.edu 37 1 34276407 34276407 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 34276407 34276407 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.1383 p.F461 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 74 0 0.00 63 19 23.17 54 0 0.00 34 8 19.05 FLG2 0 genome.wustl.edu 37 1 152324936 152324936 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 152324936 152324936 C T SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.5326 p.D1776N 0.152 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 68 0 0.00 34 18 33.96 26 0 0.00 16 10 38.46 ENSG00000205740 0 genome.wustl.edu 37 10 1018464 1018464 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 1018464 1018464 G A SNP ENSG00000205740 ENST00000381466 human ensembl 74_37 -1 known silent c.408 p.P136 0.000 NULL NULL - no_errors AL359878.1 Clone_based_ensembl_gene ENSG00000205740 tier1 - - 58 0 0.00 28 32 53.33 126 0 0.00 81 47 36.72 PLX2 0 genome.wustl.edu 37 1 208215704 208215704 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 208215704 208215704 C T SNP PLX2 ENST00000367033 human ensembl 74_37 -1 known missense c.4025 p.G1342E 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom 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 PLX2 HGNC ENSG00000076356 tier1 - - 39 0 0.00 20 14 41.18 102 0 0.00 38 25 39.68 ADAD1 0 genome.wustl.edu 37 4 123305104 123305104 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 123305104 123305104 G A SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.512 p.R171Q 0.115 NULL pfam_A_deamin,pfam_dsR-bd_dom,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 rs78087673 GMAF=0.0005 80 0 0.00 24 40 62.50 107 0 0.00 28 48 63.16 DSG4 0 genome.wustl.edu 37 18 28979506 28979506 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 28979506 28979506 G A SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.1277 p.R426K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 tier1 - - 38 0 0.00 3 10 76.92 90 0 0.00 17 35 66.04 GSTM4 0 genome.wustl.edu 37 1 110203976 110203976 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 110203976 110203976 C T SNP GSTM4 ENST00000493395 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSTM4 HGNC ENSG00000168765 tier1 - - 31 0 0.00 33 9 21.43 62 0 0.00 42 18 30.00 PLEKHG6 0 genome.wustl.edu 37 12 6436547 6436547 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 6436547 6436547 G A SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known missense c.1798 p.G600R 0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 tier1 - - 87 0 0.00 49 14 22.22 45 0 0.00 37 10 21.28 TRBV11-2 0 genome.wustl.edu 37 7 142197673 142197673 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 142197673 142197673 C T SNP TRBV11-2 ENST00000471935 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRBV11-2 HGNC ENSG00000241657 tier1 - - 54 0 0.00 17 6 26.09 79 0 0.00 25 11 30.56 ABCC8 0 genome.wustl.edu 37 11 17449462 17449462 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 17449462 17449462 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.2068 p.P690S 0.777 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 44 0 0.00 12 17 58.62 106 0 0.00 30 53 63.10 IL17REL 0 genome.wustl.edu 37 22 50436459 50436459 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 50436459 50436459 G A SNP IL17REL ENST00000341280 human ensembl 74_37 -1 known silent c.814 p.L272 0.997 NULL NULL - no_errors IL17REL HGNC ENSG00000188263 tier1 - - 8 0 0.00 7 9 56.25 19 0 0.00 14 4 21.05 PDE1B 0 genome.wustl.edu 37 12 54971042 54971042 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 54971042 54971042 C T SNP PDE1B ENST00000243052 human ensembl 74_37 +1 known missense c.1541 p.S514F 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 tier1 - - 47 0 0.00 29 8 21.62 157 0 0.00 57 34 37.36 MALAT1 0 genome.wustl.edu 37 11 65266997 65266997 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 65266997 65266997 C T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 179 0 0.00 114 62 35.23 95 0 0.00 104 56 35.00 RALGAPA2 0 genome.wustl.edu 37 20 20596831 20596831 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 20596831 20596831 A G SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.1544 p.F515S 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 tier1 - - 90 0 0.00 86 44 33.85 114 1 0.87 98 40 28.99 DSCAM 0 genome.wustl.edu 37 21 41450707 41450707 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 41450707 41450707 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.4618 p.E1540K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 53 0 0.00 26 21 44.68 84 0 0.00 43 29 40.28 TTN 0 genome.wustl.edu 37 2 179494117 179494117 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179494117 179494117 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.36631 p.E12211K 1.000 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 - - 99 1 1.00 49 17 25.76 115 0 0.00 42 21 33.33 MAPT-AS1 0 genome.wustl.edu 37 17 43922096 43922096 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 43922096 43922096 G A SNP MAPT-AS1 ENST00000581125 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MAPT-AS1 HGNC ENSG00000264589 tier1 - - 15 0 0.00 3 7 70.00 61 0 0.00 11 15 55.56 RYR1 0 genome.wustl.edu 37 19 39066567 39066567 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 39066567 39066567 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.14138 p.P4713L 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 19 0 0.00 10 5 33.33 70 0 0.00 39 29 42.65 FAR2 0 genome.wustl.edu 37 12 29423519 29423519 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 29423519 29423519 C T SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.137 p.P46L 1.000 pfam_Male_sterile_D-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like pfam_Male_sterile_D-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 tier1 - - 62 0 0.00 58 17 22.67 101 0 0.00 58 21 26.58 NEUROD4 0 genome.wustl.edu 37 12 55420286 55420286 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 55420286 55420286 G A SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.63 p.M21I 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 tier1 - - 105 0 0.00 77 27 25.96 162 0 0.00 62 21 25.30 STON2 0 genome.wustl.edu 37 14 81837492 81837492 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 81837492 81837492 G A SNP STON2 ENST00000267540 human ensembl 74_37 -1 known silent c.411 p.S137 1.000 pfam_Stonin2_N,pirsf_Stonin 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 - - 75 0 0.00 21 33 61.11 90 0 0.00 46 54 54.00 SNORD66 0 genome.wustl.edu 37 3 184043534 184043534 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 184043534 184043534 C T SNP SNORD66 ENST00000390856 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SNORD66 HGNC ENSG00000212158 tier1 - - 31 0 0.00 14 12 46.15 34 0 0.00 31 9 22.50 SNHG14 0 genome.wustl.edu 37 15 25438473 25438473 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 25438473 25438473 G A SNP SNHG14 ENST00000363358 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 88 0 0.00 29 30 50.85 20 0 0.00 15 5 25.00 EFCAB11 0 genome.wustl.edu 37 14 90263658 90263658 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 90263658 90263658 G A SNP EFCAB11 ENST00000316738 human ensembl 74_37 -1 known nonsense c.421 p.R141* 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB11 HGNC ENSG00000140025 tier1 - - 47 0 0.00 35 23 39.66 93 0 0.00 26 26 50.00 TLR4 0 genome.wustl.edu 37 9 120466694 120466694 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 120466694 120466694 G A SNP TLR4 ENST00000472304 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TLR4 HGNC ENSG00000136869 tier1 rs2737192 - 9 0 0.00 4 4 50.00 76 1 1.30 18 23 56.10 SAP25 0 genome.wustl.edu 37 7 100170370 100170370 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 100170370 100170370 G A SNP SAP25 ENST00000538735 human ensembl 74_37 -1 known silent c.222 p.F74 0.951 NULL NULL - no_errors SAP25 HGNC ENSG00000205307 tier1 - - 112 1 0.88 61 35 36.46 29 0 0.00 18 16 47.06 PABPC1 0 genome.wustl.edu 37 8 101721931 101721931 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 101721931 101721931 C T SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.1001 p.G334E 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 tier1 - - 70 0 0.00 68 29 29.90 52 0 0.00 28 19 39.58 B4GALT3 0 genome.wustl.edu 37 1 161141447 161141447 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 161141447 161141447 C T SNP B4GALT3 ENST00000470882 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors B4GALT3 HGNC ENSG00000158850 tier1 - - 78 0 0.00 49 11 18.33 72 0 0.00 44 15 25.42 SLC16A2 0 genome.wustl.edu 37 X 73744247 73744247 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 73744247 73744247 C T SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.851 p.S284F 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 tier1 - - 66 0 0.00 14 28 66.67 70 0 0.00 24 50 67.57 OR6C2 0 genome.wustl.edu 37 12 55846090 55846090 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 55846090 55846090 C T SNP OR6C2 ENST00000322678 human ensembl 74_37 +1 known silent c.93 p.L31 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 tier1 - - 57 0 0.00 40 12 23.08 108 0 0.00 52 25 32.47 CD80 0 genome.wustl.edu 37 3 119263509 119263509 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 119263509 119263509 C T SNP CD80 ENST00000264246 human ensembl 74_37 -1 known silent c.306 p.V102 0.039 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD80 HGNC ENSG00000121594 tier1 - - 67 0 0.00 57 31 35.23 88 0 0.00 75 51 40.48 CADPS 0 genome.wustl.edu 37 3 62631501 62631501 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 62631501 62631501 G A SNP CADPS ENST00000383710 human ensembl 74_37 -1 known silent c.1221 p.V407 0.763 superfamily_C2_dom pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 77 0 0.00 50 24 32.00 153 1 0.65 77 50 38.76 IDH3B 0 genome.wustl.edu 37 20 2639478 2639478 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 2639478 2639478 C T SNP IDH3B ENST00000380843 human ensembl 74_37 -1 known silent c.1077 p.R359 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D - no_errors IDH3B HGNC ENSG00000101365 tier1 rs3180299 - 50 0 0.00 25 18 41.86 46 0 0.00 35 22 38.60 TOP2B 0 genome.wustl.edu 37 3 25668163 25668163 + Silent SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 25668163 25668163 T C SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known silent c.2112 p.Q704 1.000 superfamily_Topo_IIA_like_dom pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 - - 115 0 0.00 84 38 31.15 64 1 1.54 57 22 27.85 EIF4B 0 genome.wustl.edu 37 12 53427672 53427672 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 53427672 53427672 C T SNP EIF4B ENST00000262056 human ensembl 74_37 +1 known silent c.1062 p.S354 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 tier1 - - 88 0 0.00 52 19 26.76 27 0 0.00 17 9 34.62 MYO3B 0 genome.wustl.edu 37 2 171055893 171055893 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 171055893 171055893 C T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.205 p.P69S 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_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 tier1 - - 73 0 0.00 22 15 40.54 125 0 0.00 61 24 28.24 CYBRD1 0 genome.wustl.edu 37 2 172411076 172411076 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 172411076 172411076 C T SNP CYBRD1 ENST00000375252 human ensembl 74_37 +1 known missense c.391 p.R131C 0.363 NULL NULL - no_errors CYBRD1 HGNC ENSG00000071967 tier1 - - 74 0 0.00 36 22 37.93 155 0 0.00 62 43 40.95 COL18A1 0 genome.wustl.edu 37 21 46876414 46876414 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 46876414 46876414 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.970 p.G324R 0.000 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 38 0 0.00 27 9 24.32 38 0 0.00 28 5 15.15 TMEM184B 0 genome.wustl.edu 37 22 38620870 38620870 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 38620870 38620870 C T SNP TMEM184B ENST00000361684 human ensembl 74_37 -1 known missense c.904 p.E302K 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 tier1 - - 40 0 0.00 20 12 37.50 47 0 0.00 19 6 24.00 UNC80 0 genome.wustl.edu 37 2 210800462 210800462 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 210800462 210800462 G A SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.6005 p.G2002E 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 115 0 0.00 51 46 47.42 165 0 0.00 71 51 41.80 CA 0 genome.wustl.edu 37 12 57108172 57108172 + Missense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 57108172 57108172 T A SNP CA ENST00000454682 human ensembl 74_37 -1 known missense c.5797 p.S1933C 1.000 pfscan_Nas_poly-pep-assoc_cplx_dom pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors CA HGNC ENSG00000196531 tier1 - - 107 0 0.00 44 25 35.71 59 0 0.00 37 8 17.78 EPB41 0 genome.wustl.edu 37 1 29422974 29422974 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 29422974 29422974 C T SNP EPB41 ENST00000460378 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EPB41 HGNC ENSG00000159023 tier1 - - 48 0 0.00 43 33 43.42 99 0 0.00 48 51 51.52 UBE2L6 0 genome.wustl.edu 37 11 57327819 57327819 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 57327819 57327819 G A SNP UBE2L6 ENST00000287156 human ensembl 74_37 -1 known silent c.114 p.L38 0.988 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2L6 HGNC ENSG00000156587 tier1 - - 44 0 0.00 27 13 32.50 122 0 0.00 42 48 53.33 DSEL 0 genome.wustl.edu 37 18 65181527 65181527 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 65181527 65181527 G T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.349 p.P117T 1.000 superfamily_Chondroitin_lyas pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 47 0 0.00 11 13 54.17 132 0 0.00 44 53 54.64 PAXIP1 0 genome.wustl.edu 37 7 154774975 154774975 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 154774975 154774975 G A SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.392 p.T131I 0.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 - - 134 0 0.00 62 31 33.33 154 1 0.65 68 19 21.84 AUTS2 0 genome.wustl.edu 37 7 69755362 69755362 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 69755362 69755362 G A SNP AUTS2 ENST00000403018 human ensembl 74_37 +1 known silent c.669 p.G223 0.000 NULL NULL - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 88 0 0.00 25 17 40.48 83 0 0.00 40 11 21.57 DBR1 0 genome.wustl.edu 37 3 137882228 137882228 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 137882228 137882228 G A SNP DBR1 ENST00000260803 human ensembl 74_37 -1 known silent c.904 p.L302 0.000 pfam_DBR1_C pfam_DBR1_C,pfam_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 tier1 - - 106 0 0.00 86 49 36.30 104 1 0.95 49 32 39.51 CELSR2 0 genome.wustl.edu 37 1 109812124 109812124 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 109812124 109812124 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.6891 p.A2297 0.396 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,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 CELSR2 HGNC ENSG00000143126 tier1 - - 45 0 0.00 25 9 26.47 43 0 0.00 37 9 19.57 OR4C46 0 genome.wustl.edu 37 11 51515496 51515496 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 51515496 51515496 C T SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.215 p.S72F 0.401 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 tier1 - - 64 0 0.00 12 32 72.73 65 0 0.00 13 36 73.47 SNTG2 0 genome.wustl.edu 37 2 1371201 1371201 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 1371201 1371201 C T SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known silent c.1575 p.F525 0.071 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 50 0 0.00 22 9 29.03 58 0 0.00 27 17 38.64 IGSF10 0 genome.wustl.edu 37 3 151171541 151171541 + Missense_Mutation SNP T T G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 151171541 151171541 T G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.346 p.K116Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 120 0 0.00 83 37 30.83 117 0 0.00 72 51 41.46 KCNT2 0 genome.wustl.edu 37 1 196300354 196300354 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 196300354 196300354 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2035 p.G679R 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 121 0 0.00 64 43 40.19 93 0 0.00 45 36 44.44 TNR 0 genome.wustl.edu 37 1 175362936 175362936 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 175362936 175362936 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.1336 p.E446K 1.000 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_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 117 0 0.00 52 13 20.00 124 0 0.00 74 22 22.92 ZNF584 0 genome.wustl.edu 37 19 58927188 58927188 + Missense_Mutation SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 58927188 58927188 C G SNP ZNF584 ENST00000322834 human ensembl 74_37 +1 putative missense c.271 p.P91A 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF584 HGNC ENSG00000171574 tier1 - - 79 0 0.00 49 40 44.94 114 1 0.87 41 47 53.41 ENSG00000235881 0 genome.wustl.edu 37 2 111469926 111469926 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 111469926 111469926 C T SNP ENSG00000235881 ENST00000414159 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors AC114776.3 Clone_based_vega_gene ENSG00000235881 tier1 - - 63 0 0.00 54 16 22.86 130 0 0.00 68 18 20.93 OCM2 0 genome.wustl.edu 37 7 97617774 97617774 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 97617774 97617774 A G SNP OCM2 ENST00000257627 human ensembl 74_37 -1 known missense c.148 p.F50L 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors OCM2 HGNC ENSG00000135175 tier1 - - 126 0 0.00 73 24 24.74 100 0 0.00 47 35 42.68 DJB13 0 genome.wustl.edu 37 11 73676073 73676073 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 73676073 73676073 C T SNP DJB13 ENST00000339764 human ensembl 74_37 +1 known missense c.485 p.S162F 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJB13 HGNC ENSG00000187726 tier1 - - 68 0 0.00 43 25 36.76 80 0 0.00 54 25 31.65 PRR26 0 genome.wustl.edu 37 10 697091 697091 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 697091 697091 G A SNP PRR26 ENST00000441152 human ensembl 74_37 +1 known missense c.584 p.G195E 0.000 NULL NULL - no_errors PRR26 HGNC ENSG00000180525 tier1 - - 11 0 0.00 12 9 42.86 39 0 0.00 21 17 44.74 RNMT 0 genome.wustl.edu 37 18 13734511 13734511 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 13734511 13734511 C T SNP RNMT ENST00000262173 human ensembl 74_37 +1 known missense c.466 p.L156F 1.000 pfam_mR_G-N7_MeTrfase_dom,pirsf_mR_G-N7_MeTrfase pfam_mR_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mR_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 tier1 - - 119 0 0.00 33 53 61.63 99 0 0.00 38 50 56.82 LGALS12 0 genome.wustl.edu 37 11 63277347 63277347 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 63277347 63277347 C T SNP LGALS12 ENST00000340246 human ensembl 74_37 +1 known missense c.539 p.A180V 0.615 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS12 HGNC ENSG00000133317 tier1 - - 78 0 0.00 28 39 58.21 103 0 0.00 29 31 51.67 CCDC163P 0 genome.wustl.edu 37 1 45960756 45960756 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 45960756 45960756 G A SNP CCDC163P ENST00000432082 human ensembl 74_37 -1 putative missense c.413 p.S138F 0.104 NULL NULL - no_errors CCDC163P HGNC ENSG00000236624 tier1 - - 63 0 0.00 40 43 51.81 152 0 0.00 71 89 55.62 AP3B2 0 genome.wustl.edu 37 15 83328344 83328344 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 83328344 83328344 C T SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.3217 p.V1073I 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 tier1 rs201769141 - 31 0 0.00 30 8 21.05 103 0 0.00 43 14 24.56 TECTA 0 genome.wustl.edu 37 11 121030984 121030984 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 121030984 121030984 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.4830 p.I1610 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 67 0 0.00 44 8 15.38 79 0 0.00 38 5 11.63 CSMD2 0 genome.wustl.edu 37 1 34102131 34102131 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 34102131 34102131 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.4798 p.D1600N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 102 0 0.00 51 54 51.43 120 0 0.00 53 74 58.27 NCAPD2 0 genome.wustl.edu 37 12 6636085 6636085 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 6636085 6636085 C T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known silent c.2763 p.F921 0.791 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 tier1 - - 30 0 0.00 25 10 28.57 38 0 0.00 30 7 18.92 CPN2 0 genome.wustl.edu 37 3 194062012 194062012 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 194062012 194062012 C T SNP CPN2 ENST00000323830 human ensembl 74_37 -1 known missense c.1420 p.E474K 0.083 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 tier1 - - 40 0 0.00 29 18 38.30 33 0 0.00 23 10 30.30 BAIAP3 0 genome.wustl.edu 37 16 1390933 1390933 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 1390933 1390933 C T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.524 p.T175I 0.333 superfamily_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 tier1 - - 63 0 0.00 57 28 32.94 33 0 0.00 22 4 15.38 FAM3D 0 genome.wustl.edu 37 3 58622108 58622108 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 58622108 58622108 C T SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known silent c.498 p.G166 0.918 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 tier1 - - 75 0 0.00 71 18 20.22 111 0 0.00 66 31 31.63 MYO18B 0 genome.wustl.edu 37 22 26164851 26164851 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 26164851 26164851 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.968 p.G323E 0.013 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tR-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 129 0 0.00 79 27 25.47 182 0 0.00 89 52 36.88 PLCB4 0 genome.wustl.edu 37 20 9417703 9417703 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 9417703 9417703 G A SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.2632 p.A878T 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 tier1 - - 95 0 0.00 77 42 35.29 148 1 0.67 105 48 31.37 JPH1 0 genome.wustl.edu 37 8 75227588 75227588 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 75227588 75227588 G A SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.647 p.S216F 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 tier1 - - 10 0 0.00 8 6 42.86 42 0 0.00 23 5 17.86 DDX11 0 genome.wustl.edu 37 12 31236933 31236933 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 31236933 31236933 C T SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.331 p.P111S 1.000 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_D_helicase_D-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 tier1 - - 197 0 0.00 113 78 40.84 50 0 0.00 12 17 58.62 SULT1C3 0 genome.wustl.edu 37 2 108881355 108881355 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 108881355 108881355 C T SNP SULT1C3 ENST00000329106 human ensembl 74_37 +1 known silent c.696 p.I232 0.445 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C3 HGNC ENSG00000196228 tier1 - - 76 0 0.00 52 12 18.75 152 0 0.00 82 17 17.17 GPR98 0 genome.wustl.edu 37 5 89936619 89936619 + R SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 89936619 89936619 T A SNP GPR98 ENST00000512205 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 89 0 0.00 25 27 51.92 137 0 0.00 25 35 58.33 CCDC93 0 genome.wustl.edu 37 2 118715984 118715984 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 118715984 118715984 G A SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known missense c.962 p.S321F 1.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 tier1 - - 107 0 0.00 42 26 38.24 148 0 0.00 82 14 14.58 GLCCI1 0 genome.wustl.edu 37 7 8125883 8125883 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 8125883 8125883 C T SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known silent c.1359 p.F453 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 tier1 - - 21 0 0.00 14 21 60.00 103 0 0.00 56 44 43.56 ADH4 0 genome.wustl.edu 37 4 100063861 100063861 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 100063861 100063861 G A SNP ADH4 ENST00000423445 human ensembl 74_37 -1 known missense c.146 p.A49V 0.999 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 - - 80 0 0.00 19 24 55.81 73 0 0.00 22 37 62.71 UGT2A3 0 genome.wustl.edu 37 4 69811118 69811118 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 69811118 69811118 C T SNP UGT2A3 ENST00000251566 human ensembl 74_37 -1 known missense c.770 p.R257Q 0.899 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 tier1 rs148723888 - 56 0 0.00 12 39 76.47 110 0 0.00 50 52 50.98 DCAF4L2 0 genome.wustl.edu 37 8 88885861 88885861 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 88885861 88885861 C T SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known silent c.339 p.R113 0.165 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 tier1 - - 36 0 0.00 18 8 30.77 129 0 0.00 66 50 43.10 VWA3A 0 genome.wustl.edu 37 16 22149817 22149817 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 22149817 22149817 C T SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known missense c.2276 p.P759L 0.262 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 tier1 - - 128 0 0.00 77 63 44.68 121 0 0.00 63 35 35.71 OR5D18 0 genome.wustl.edu 37 11 55587118 55587118 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 55587118 55587118 G A SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.13 p.D5N 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 tier1 - - 17 0 0.00 18 5 21.74 82 0 0.00 60 7 10.45 PLCB1 0 genome.wustl.edu 37 20 8689384 8689384 + Missense_Mutation SNP A A C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 8689384 8689384 A C SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.1235 p.E412A 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 102 0 0.00 71 49 40.83 126 0 0.00 117 70 37.43 FLJ33360 0 genome.wustl.edu 37 5 6337372 6337372 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 6337372 6337372 C T SNP FLJ33360 ENST00000502644 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene ENSG00000250490 tier1 - - 18 0 0.00 22 7 24.14 71 0 0.00 35 13 27.08 BAIAP2L2 0 genome.wustl.edu 37 22 38481697 38481697 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 38481697 38481697 G A SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known missense c.1510 p.P504S 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 tier1 - - 30 0 0.00 28 14 33.33 50 0 0.00 29 22 43.14 ECI1 0 genome.wustl.edu 37 16 2296868 2296868 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 2296868 2296868 G A SNP ECI1 ENST00000301729 human ensembl 74_37 -1 known silent c.286 p.L96 0.002 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECI1 HGNC ENSG00000167969 tier1 - - 125 0 0.00 73 25 25.51 65 0 0.00 41 15 26.79 COL17A1 0 genome.wustl.edu 37 10 105799254 105799254 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 105799254 105799254 G A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.2845 p.L949F 0.437 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 74 0 0.00 20 29 59.18 99 0 0.00 13 29 69.05 C1orf94 0 genome.wustl.edu 37 1 34684344 34684344 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 34684344 34684344 G A SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known silent c.1779 p.G593 1.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 tier1 - - 95 0 0.00 78 10 11.36 123 0 0.00 92 14 13.21 PCSK1 0 genome.wustl.edu 37 5 95757591 95757591 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 95757591 95757591 C T SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.613 p.E205K 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 tier1 - - 119 0 0.00 29 21 42.00 92 0 0.00 18 26 59.09 FAF1 0 genome.wustl.edu 37 1 50941264 50941264 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 50941264 50941264 G A SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known missense c.1741 p.P581S 1.000 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 tier1 - - 39 0 0.00 34 16 32.00 102 0 0.00 67 14 17.28 SLC8A1 0 genome.wustl.edu 37 2 40405534 40405534 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 40405534 40405534 C T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.1908 p.E636 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 40 0 0.00 21 23 52.27 64 0 0.00 33 22 40.00 PTER 0 genome.wustl.edu 37 10 16553079 16553079 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 16553079 16553079 C T SNP PTER ENST00000298942 human ensembl 74_37 +1 known nonsense c.874 p.R292* 0.995 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 tier1 rs143073635 - 75 0 0.00 76 30 28.30 89 0 0.00 79 48 37.80 CMYA5 0 genome.wustl.edu 37 5 79031081 79031081 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 79031081 79031081 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.6493 p.D2165N 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 59 0 0.00 21 15 41.67 150 0 0.00 54 28 33.73 CD163L1 0 genome.wustl.edu 37 12 7528586 7528586 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 7528586 7528586 C T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2396 p.G799E 0.609 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 tier1 - - 37 0 0.00 13 8 38.10 72 0 0.00 48 20 28.99 DHTKD1 0 genome.wustl.edu 37 10 12130993 12130993 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 12130993 12130993 C T SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known silent c.726 p.F242 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 tier1 - - 50 0 0.00 48 19 28.36 105 0 0.00 70 44 38.60 APCS 0 genome.wustl.edu 37 1 159558495 159558495 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 159558495 159558495 C T SNP APCS ENST00000255040 human ensembl 74_37 +1 known silent c.669 p.V223 0.000 superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors APCS HGNC ENSG00000132703 tier1 - - 63 0 0.00 35 9 20.45 86 0 0.00 36 15 29.41 CCDC34 0 genome.wustl.edu 37 11 27362242 27362242 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 27362242 27362242 C T SNP CCDC34 ENST00000328697 human ensembl 74_37 -1 known splice_site c.907+1 e5+1 1.000 - - - no_errors CCDC34 HGNC ENSG00000109881 tier1 - - 99 0 0.00 46 44 48.89 175 0 0.00 54 71 56.80 IMPG1 0 genome.wustl.edu 37 6 76713655 76713655 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 76713655 76713655 G A SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.1148 p.S383L 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 114 0 0.00 71 23 24.47 97 0 0.00 80 30 27.27 ENSG00000251429 0 genome.wustl.edu 37 4 159198884 159198884 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 159198884 159198884 G A SNP ENSG00000251429 ENST00000512016 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-597D13.7 Clone_based_vega_gene ENSG00000251429 tier1 - - 12 0 0.00 4 10 71.43 52 0 0.00 14 50 78.12 DDX18 0 genome.wustl.edu 37 2 118586926 118586926 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 118586926 118586926 C T SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.1754 p.S585L 0.999 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 tier1 - - 64 0 0.00 36 11 23.40 41 0 0.00 41 12 22.64 DUSP22 0 genome.wustl.edu 37 6 348136 348136 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 348136 348136 G A SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known silent c.297 p.V99 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 tier1 - - 102 0 0.00 69 18 20.45 108 0 0.00 71 9 11.25 OR51G2 0 genome.wustl.edu 37 11 4936114 4936114 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 4936114 4936114 C T SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known missense c.780 p.M260I 0.931 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G2 HGNC ENSG00000176893 tier1 - - 87 0 0.00 33 6 15.38 94 0 0.00 82 10 10.87 PIGT 0 genome.wustl.edu 37 20 44045318 44045318 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 44045318 44045318 C T SNP PIGT ENST00000279036 human ensembl 74_37 +1 known nonsense c.349 p.Q117* 1.000 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 tier1 - - 31 0 0.00 22 13 37.14 81 0 0.00 58 34 36.96 ZNF611 0 genome.wustl.edu 37 19 53208471 53208471 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 53208471 53208471 G A SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.1837 p.R613C 0.000 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 ZNF611 HGNC ENSG00000213020 tier1 - - 128 0 0.00 85 20 19.05 38 0 0.00 27 9 25.00 PTPRK 0 genome.wustl.edu 37 6 128316681 128316681 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 128316681 128316681 C T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.2806 p.D936N 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 163 0 0.00 144 43 22.87 29 0 0.00 25 4 13.79 CDH12 0 genome.wustl.edu 37 5 22078924 22078924 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 22078924 22078924 C T SNP CDH12 ENST00000518209 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 78 0 0.00 59 43 42.16 113 0 0.00 53 28 34.57 STK19 0 genome.wustl.edu 37 6 31948444 31948444 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 31948444 31948444 C T SNP STK19 ENST00000375333 human ensembl 74_37 +1 known silent c.927 p.V309 0.999 pfam_Ser/Thr_kinase_19 pfam_Ser/Thr_kinase_19 - no_errors STK19 HGNC ENSG00000204344 tier1 - - 71 0 0.00 32 23 41.82 78 0 0.00 46 27 36.99 TGIF2LX 0 genome.wustl.edu 37 X 89177805 89177805 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 89177805 89177805 C T SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known missense c.721 p.P241S 0.001 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 tier1 - - 81 0 0.00 29 37 56.06 69 0 0.00 24 33 57.89 C11orf65 0 genome.wustl.edu 37 11 108302545 108302545 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 108302545 108302545 G A SNP C11orf65 ENST00000393084 human ensembl 74_37 -1 known silent c.102 p.H34 0.774 NULL NULL - no_errors C11orf65 HGNC ENSG00000166323 tier1 - - 127 0 0.00 73 49 40.16 109 1 0.89 56 61 52.14 MMD2 0 genome.wustl.edu 37 7 4950810 4950810 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 4950810 4950810 C T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.433 p.V145M 0.001 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 tier1 - - 161 0 0.00 110 49 30.82 48 0 0.00 52 19 26.76 RTL1 0 genome.wustl.edu 37 14 101349282 101349282 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 101349282 101349282 G A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.1844 p.P615L 0.100 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 51 0 0.00 19 25 56.82 90 0 0.00 26 32 55.17 HNRNPM 0 genome.wustl.edu 37 19 8536305 8536305 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 8536305 8536305 C T SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.991 p.P331S 0.997 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 tier1 - - 96 0 0.00 33 74 69.16 117 0 0.00 21 99 82.50 CASP8 0 genome.wustl.edu 37 2 202149906 202149906 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 202149906 202149906 G A SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known silent c.1347 p.T449 0.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 tier1 - - 46 0 0.00 26 9 25.71 117 0 0.00 40 30 42.86 OR7D4 0 genome.wustl.edu 37 19 9325175 9325175 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 9325175 9325175 G A SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known silent c.339 p.F113 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 tier1 - - 98 0 0.00 15 51 77.27 28 0 0.00 18 8 30.77 TMEM184B 0 genome.wustl.edu 37 22 38620871 38620871 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 38620871 38620871 C T SNP TMEM184B ENST00000361684 human ensembl 74_37 -1 known silent c.903 p.V301 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 tier1 - - 38 0 0.00 20 11 35.48 47 0 0.00 19 6 24.00 GABRR1 0 genome.wustl.edu 37 6 89899896 89899896 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 89899896 89899896 C T SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.643 p.E215K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,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_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 tier1 - - 86 0 0.00 52 15 22.39 130 0 0.00 87 34 28.10 FCRL3 0 genome.wustl.edu 37 1 157648689 157648689 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 157648689 157648689 G A SNP FCRL3 ENST00000468507 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 71 0 0.00 48 14 22.58 134 0 0.00 84 26 23.64 BAIAP2L2 0 genome.wustl.edu 37 22 38481696 38481696 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 38481696 38481696 G A SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known missense c.1511 p.P504L 0.992 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 tier1 - - 31 0 0.00 27 13 31.71 47 0 0.00 28 23 45.10 AOC1 0 genome.wustl.edu 37 7 150554581 150554581 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 150554581 150554581 C T SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known silent c.1023 p.F341 0.001 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 tier1 - - 42 0 0.00 26 6 18.75 19 0 0.00 17 4 19.05 DPYD 0 genome.wustl.edu 37 1 97548028 97548028 + Splice_Site SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 97548028 97548028 T A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known splice_site c.2767-2 e22-2 0.995 - - - no_errors DPYD HGNC ENSG00000188641 tier1 - - 57 0 0.00 60 14 18.92 81 0 0.00 76 18 18.95 GPLD1 0 genome.wustl.edu 37 6 24460571 24460571 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 24460571 24460571 C T SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.944 p.S315N 0.000 NULL pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 tier1 - - 130 0 0.00 59 41 40.59 103 0 0.00 71 37 34.26 FFAR3 0 genome.wustl.edu 37 19 35850340 35850340 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 35850340 35850340 C T SNP FFAR3 ENST00000327809 human ensembl 74_37 +1 known missense c.548 p.P183L 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR3 HGNC ENSG00000185897 tier1 - - 48 0 0.00 29 8 21.62 37 0 0.00 17 7 29.17 ITSN2 0 genome.wustl.edu 37 2 24507680 24507680 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 24507680 24507680 G A SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known silent c.1896 p.C632 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 tier1 - - 265 0 0.00 131 134 50.57 94 0 0.00 43 25 36.76 GPC5 0 genome.wustl.edu 37 13 92797179 92797179 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 92797179 92797179 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1498 p.D500N 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 tier1 - - 148 0 0.00 91 34 27.20 116 0 0.00 53 16 23.19 RGPD4 0 genome.wustl.edu 37 2 108499159 108499159 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 108499159 108499159 G A SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.5096 p.R1699K 0.999 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 441 0 0.00 319 70 17.99 38 0 0.00 25 4 13.79 ENPP2 0 genome.wustl.edu 37 8 120629450 120629450 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 120629450 120629450 G A SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.611 p.P204L 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_D/R_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_D/R_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 tier1 - - 127 0 0.00 98 47 32.41 117 0 0.00 123 39 24.07 MUC16 0 genome.wustl.edu 37 19 9050056 9050056 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 9050056 9050056 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.31575 p.I10525 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 67 0 0.00 15 40 72.73 96 0 0.00 33 40 54.79 CARD10 0 genome.wustl.edu 37 22 37891942 37891942 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 37891942 37891942 G A SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.2128 p.R710C 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 tier1 - - 42 0 0.00 26 16 38.10 105 0 0.00 55 16 22.22 F11R 0 genome.wustl.edu 37 1 160970569 160970569 + Splice_Site SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 160970569 160970569 T A SNP F11R ENST00000368026 human ensembl 74_37 -1 known splice_site c.242-2 e4-2 0.972 - - - no_errors F11R HGNC ENSG00000158769 tier1 - - 47 0 0.00 21 11 33.33 174 0 0.00 71 56 43.41 PTPRK 0 genome.wustl.edu 37 6 128291379 128291379 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 128291379 128291379 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.4367 p.S1456L 0.998 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 36 0 0.00 21 13 38.24 114 0 0.00 81 24 22.86 PRKAA2 0 genome.wustl.edu 37 1 57169747 57169747 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 57169747 57169747 G A SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.892 p.E298K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 tier1 - - 61 0 0.00 59 20 25.32 138 0 0.00 103 19 15.57 OR11H6 0 genome.wustl.edu 37 14 20692109 20692109 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 20692109 20692109 C T SNP OR11H6 ENST00000315519 human ensembl 74_37 +1 known silent c.241 p.L81 0.267 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H6 HGNC ENSG00000176219 tier1 - - 49 0 0.00 12 14 53.85 124 0 0.00 51 54 51.43 PKHD1L1 0 genome.wustl.edu 37 8 110453571 110453571 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 110453571 110453571 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.4167 p.G1389 0.150 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 169 0 0.00 165 68 29.18 73 0 0.00 97 28 22.40 ANK3 0 genome.wustl.edu 37 10 61832873 61832873 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 61832873 61832873 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.7766 p.T2589I 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 16 0 0.00 1 8 88.89 119 0 0.00 22 38 63.33 DDX4 0 genome.wustl.edu 37 5 55075804 55075804 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 55075804 55075804 G A SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.407 p.G136E 1.000 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 tier1 - - 41 0 0.00 9 17 65.38 104 0 0.00 28 39 57.35 LRBA 0 genome.wustl.edu 37 4 151356812 151356812 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 151356812 151356812 G A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.7003 p.H2335Y 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 tier1 - - 222 0 0.00 81 101 55.49 69 0 0.00 19 22 53.66 ADAR 0 genome.wustl.edu 37 1 154562360 154562360 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 154562360 154562360 C T SNP ADAR ENST00000292205 human ensembl 74_37 -1 known silent c.2670 p.L890 1.000 smart_A_deamin pfam_A_deamin,pfam_dsR_A_deaminase,pfam_dsR-bd_dom,smart_dsR_A_deaminase,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_dsR_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 tier1 - - 35 0 0.00 17 5 22.73 56 0 0.00 42 8 16.00 IDH3B 0 genome.wustl.edu 37 20 2639479 2639479 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 2639479 2639479 C T SNP IDH3B ENST00000380843 human ensembl 74_37 -1 known missense c.1076 p.R359Q 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D - no_errors IDH3B HGNC ENSG00000101365 tier1 rs151027738 - 49 0 0.00 23 19 44.19 46 0 0.00 34 22 38.60 TPTE 0 genome.wustl.edu 37 21 10906904 10906904 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 10906904 10906904 C T SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors TPTE HGNC ENSG00000166157 tier1 - - 243 0 0.00 219 37 14.45 178 0 0.00 106 19 15.20 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36748880 36748880 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 36748880 36748880 G A SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known silent c.999 p.I333 0.901 superfamily_bHLH_dom,smart_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 tier1 - - 153 0 0.00 72 41 36.28 120 0 0.00 87 18 17.14 GPR113 0 genome.wustl.edu 37 2 26532944 26532944 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 26532944 26532944 G A SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known silent c.2511 p.C837 0.801 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 tier1 - - 41 0 0.00 21 32 60.38 44 0 0.00 25 19 43.18 RASEF 0 genome.wustl.edu 37 9 85597673 85597673 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 85597673 85597673 C T SNP RASEF ENST00000376447 human ensembl 74_37 -1 known silent c.2142 p.K714 0.982 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 tier1 - - 82 0 0.00 23 28 54.90 93 0 0.00 26 35 57.38 FAM188B 0 genome.wustl.edu 37 7 30911898 30911898 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 30911898 30911898 G A SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.1786 p.G596R 1.000 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 tier1 - - 43 0 0.00 48 11 18.64 68 0 0.00 52 12 18.75 SLIT3 0 genome.wustl.edu 37 5 168671750 168671750 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 168671750 168671750 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.300 p.I100 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 28 0 0.00 11 10 47.62 53 0 0.00 13 13 50.00 RDH13 0 genome.wustl.edu 37 19 55568079 55568079 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 55568079 55568079 C T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known silent c.282 p.R94 0.903 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 tier1 - - 97 0 0.00 52 37 41.57 134 0 0.00 59 53 47.32 SEC14L5 0 genome.wustl.edu 37 16 5053431 5053431 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 5053431 5053431 G A SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.1159 p.G387R 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 - - 123 0 0.00 87 55 38.46 31 0 0.00 18 5 21.74 DH14 0 genome.wustl.edu 37 1 225492739 225492739 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 225492739 225492739 G A SNP DH14 ENST00000430092 human ensembl 74_37 +1 known missense c.8674 p.E2892K 0.993 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DH14 HGNC ENSG00000185842 tier1 - - 173 0 0.00 100 26 20.63 132 0 0.00 78 28 26.42 TNRC18 0 genome.wustl.edu 37 7 5401627 5401627 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 5401627 5401627 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.4433 p.A1478V 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 53 0 0.00 61 22 26.51 43 0 0.00 30 6 16.67 SCN3A 0 genome.wustl.edu 37 2 165984416 165984416 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 165984416 165984416 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.3118 p.H1040Y 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 56 0 0.00 26 22 45.83 81 0 0.00 62 22 26.19 SNCAIP 0 genome.wustl.edu 37 5 121779348 121779348 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 121779348 121779348 C T SNP SNCAIP ENST00000395469 human ensembl 74_37 +1 known missense c.1646 p.S549F 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 tier1 - - 106 0 0.00 37 37 50.00 132 0 0.00 36 56 60.87 CCR4 0 genome.wustl.edu 37 3 32995835 32995835 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 32995835 32995835 G A SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known silent c.921 p.L307 0.989 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 tier1 - - 44 0 0.00 32 10 23.81 115 0 0.00 76 65 46.10 TRAF6 0 genome.wustl.edu 37 11 36511818 36511818 + Missense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 36511818 36511818 A T SNP TRAF6 ENST00000348124 human ensembl 74_37 -1 known missense c.1139 p.F380Y 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 tier1 - - 72 0 0.00 55 10 15.38 147 0 0.00 105 16 13.22 FCRL5 0 genome.wustl.edu 37 1 157514756 157514756 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 157514756 157514756 G A SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known silent c.424 p.L142 0.003 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 73 0 0.00 40 21 34.43 106 0 0.00 49 22 30.99 FGF10 0 genome.wustl.edu 37 5 44305142 44305142 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 44305142 44305142 C T SNP FGF10 ENST00000264664 human ensembl 74_37 -1 known silent c.582 p.R194 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_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 FGF10 HGNC ENSG00000070193 tier1 - - 101 0 0.00 64 39 37.86 118 0 0.00 63 48 43.24 DHX29 0 genome.wustl.edu 37 5 54593193 54593193 + Missense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 54593193 54593193 T A SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known missense c.295 p.I99F 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 tier1 - - 118 0 0.00 26 34 56.67 102 0 0.00 29 38 56.72 FOXM1 0 genome.wustl.edu 37 12 2968197 2968197 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 2968197 2968197 C T SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known silent c.2013 p.G671 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 tier1 - - 84 0 0.00 31 21 40.38 26 0 0.00 16 3 15.79 SRC 0 genome.wustl.edu 37 20 36031954 36031954 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 36031954 36031954 G A SNP SRC ENST00000477066 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SRC HGNC ENSG00000197122 tier1 - - 13 0 0.00 18 8 30.77 65 0 0.00 45 21 31.82 CYLC2 0 genome.wustl.edu 37 9 105767566 105767566 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 105767566 105767566 A G SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.653 p.K218R 0.002 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 tier1 - - 73 0 0.00 25 30 54.55 141 0 0.00 39 60 60.61 TPTE 0 genome.wustl.edu 37 21 10916378 10916378 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 10916378 10916378 G A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1268 p.S423L 0.790 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 471 0 0.00 475 68 12.52 51 0 0.00 48 11 18.64 ENTHD1 0 genome.wustl.edu 37 22 40139967 40139967 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 40139967 40139967 C T SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1541 p.G514E 0.000 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 66 0 0.00 35 31 46.97 134 0 0.00 83 42 33.60 SP25 0 genome.wustl.edu 37 20 10280021 10280021 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 10280021 10280021 C T SNP SP25 ENST00000254976 human ensembl 74_37 +1 known silent c.513 p.I171 0.927 pfam_T_SRE_dom,smart_T_SRE_dom,pfscan_T_SRE_dom pfam_T_SRE_dom,pfam_SP-25,superfamily_t-SRE,smart_T_SRE_dom,pfscan_T_SRE_dom - no_errors SP25 HGNC ENSG00000132639 tier1 - - 43 0 0.00 57 32 35.96 63 0 0.00 46 25 35.21 PCLO 0 genome.wustl.edu 37 7 82584459 82584459 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 82584459 82584459 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.5810 p.R1937Q 0.997 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 97 0 0.00 36 11 23.40 136 0 0.00 95 29 23.39 CLN3 0 genome.wustl.edu 37 16 28502882 28502882 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 28502882 28502882 C T SNP CLN3 ENST00000359984 human ensembl 74_37 -1 known splice_site c.47-1 e2-1 0.991 - - - no_errors CLN3 HGNC ENSG00000188603 tier1 - - 56 0 0.00 33 31 47.69 16 0 0.00 17 11 39.29 GLRA3 0 genome.wustl.edu 37 4 175649663 175649663 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 175649663 175649663 T C SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known missense c.454 p.R152G 0.996 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,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_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 tier1 - - 102 1 0.97 22 30 56.60 83 0 0.00 25 50 66.67 ABRA 0 genome.wustl.edu 37 8 107782101 107782101 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 107782101 107782101 C T SNP ABRA ENST00000311955 human ensembl 74_37 -1 known silent c.318 p.K106 1.000 NULL NULL - no_errors ABRA HGNC ENSG00000174429 tier1 - - 73 0 0.00 44 30 39.47 113 0 0.00 38 36 48.65 CDH11 0 genome.wustl.edu 37 16 64982569 64982569 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 64982569 64982569 G A SNP CDH11 ENST00000394156 human ensembl 74_37 -1 known silent c.2016 p.V672 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 160 1 0.62 86 56 39.44 117 0 0.00 61 25 29.07 KLHL13 0 genome.wustl.edu 37 X 117079473 117079473 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 117079473 117079473 G A SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known missense c.173 p.S58L 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 tier1 - - 37 0 0.00 10 27 72.97 38 0 0.00 16 34 68.00 PAXIP1 0 genome.wustl.edu 37 7 154751628 154751628 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 154751628 154751628 G A SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.2450 p.P817L 0.993 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 - - 90 0 0.00 54 17 23.94 128 0 0.00 49 24 32.88 URAD 0 genome.wustl.edu 37 13 28562733 28562733 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 28562733 28562733 G A SNP URAD ENST00000332715 human ensembl 74_37 -1 known silent c.42 p.F14 0.666 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 - no_errors URAD HGNC ENSG00000183463 tier1 - - 102 0 0.00 50 25 33.33 111 0 0.00 35 13 26.53 DSCAM 0 genome.wustl.edu 37 21 41416186 41416186 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 41416186 41416186 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.5202 p.R1734 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 46 0 0.00 26 12 31.58 85 0 0.00 35 21 37.50 IL1RL2 0 genome.wustl.edu 37 2 102805732 102805732 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 102805732 102805732 G A SNP IL1RL2 ENST00000264257 human ensembl 74_37 +1 known missense c.255 p.M85I 0.004 smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 tier1 - - 109 0 0.00 42 29 40.85 129 0 0.00 60 32 34.41 FAM83B 0 genome.wustl.edu 37 6 54806428 54806428 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 54806428 54806428 C T SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.2659 p.P887S 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 tier1 - - 80 0 0.00 52 13 20.00 103 0 0.00 60 28 31.46 ADCY10 0 genome.wustl.edu 37 1 167806500 167806500 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 167806500 167806500 G A SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.3064 p.P1022S 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 - - 55 0 0.00 39 18 31.58 85 0 0.00 27 24 47.06 RAP1GAP 0 genome.wustl.edu 37 1 21938038 21938038 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 21938038 21938038 C T SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known silent c.942 p.T314 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 tier1 - - 45 0 0.00 20 19 48.72 81 0 0.00 34 56 62.22 CCDC68 0 genome.wustl.edu 37 18 52586600 52586600 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 52586600 52586600 C T SNP CCDC68 ENST00000337363 human ensembl 74_37 -1 known missense c.691 p.D231N 0.992 superfamily_Prefoldin superfamily_Prefoldin - no_errors CCDC68 HGNC ENSG00000166510 tier1 - - 38 0 0.00 7 17 70.83 147 0 0.00 42 48 53.33 OR9K2 0 genome.wustl.edu 37 12 55524235 55524235 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 55524235 55524235 C T SNP OR9K2 ENST00000305377 human ensembl 74_37 +1 known missense c.683 p.S228L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 tier1 - - 29 0 0.00 12 7 36.84 62 0 0.00 39 17 30.36 TSHZ2 0 genome.wustl.edu 37 20 51872433 51872433 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 51872433 51872433 C T SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known silent c.2436 p.S812 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 - - 41 0 0.00 77 23 23.00 152 0 0.00 117 49 29.52 C11orf85 0 genome.wustl.edu 37 11 64717234 64717234 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 64717234 64717234 G A SNP C11orf85 ENST00000301896 human ensembl 74_37 -1 known silent c.330 p.F110 0.914 NULL NULL - no_errors C11orf85 HGNC ENSG00000168070 tier1 - - 86 0 0.00 47 22 31.88 112 0 0.00 71 36 33.64 PPP1R9A 0 genome.wustl.edu 37 7 94898568 94898568 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 94898568 94898568 C T SNP PPP1R9A ENST00000456331 human ensembl 74_37 +1 known missense c.2807 p.P936L 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_Smac_DIABLO-like,smart_PDZ,pfscan_PDZ - no_errors PPP1R9A HGNC ENSG00000158528 tier1 - - 62 0 0.00 28 20 41.67 150 1 0.66 66 19 22.35 CCR2 0 genome.wustl.edu 37 3 46400105 46400105 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 46400105 46400105 G A SNP CCR2 ENST00000465202 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CCR2 HGNC ENSG00000121807 tier1 - - 26 0 0.00 19 14 42.42 173 0 0.00 73 54 41.86 FLVCR2 0 genome.wustl.edu 37 14 76107368 76107368 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 76107368 76107368 G T SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known missense c.1306 p.G436C 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 tier1 - - 84 0 0.00 45 30 40.00 84 0 0.00 38 25 39.68 C8orf47 0 genome.wustl.edu 37 8 99102153 99102153 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 99102153 99102153 G A SNP C8orf47 ENST00000318528 human ensembl 74_37 +1 known missense c.908 p.G303E 0.054 NULL NULL - no_errors C8orf47 HGNC ENSG00000177459 tier1 - - 38 0 0.00 23 23 50.00 102 0 0.00 75 43 36.44 TCF19 0 genome.wustl.edu 37 6 31129449 31129449 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 31129449 31129449 C T SNP TCF19 ENST00000376255 human ensembl 74_37 +1 known missense c.464 p.S155F 0.023 NULL pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 tier1 - - 139 0 0.00 90 40 30.77 48 0 0.00 34 9 20.93 SLC25A12 0 genome.wustl.edu 37 2 172712396 172712396 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 172712396 172712396 G A SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known silent c.273 p.F91 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 tier1 - - 123 0 0.00 56 21 27.27 104 0 0.00 66 21 24.14 ABCC9 0 genome.wustl.edu 37 12 21968812 21968812 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 21968812 21968812 G A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3908 p.P1303L 1.000 superfamily_P-loop_NTPase pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 125 0 0.00 103 28 21.37 98 0 0.00 61 27 30.68 ZFPM2 0 genome.wustl.edu 37 8 106814453 106814453 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 106814453 106814453 G A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2143 p.D715N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 34 0 0.00 22 5 18.52 70 0 0.00 49 27 35.53 C2orf16 0 genome.wustl.edu 37 2 27800241 27800241 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 27800241 27800241 G A SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.802 p.E268K 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 tier1 - - 59 0 0.00 41 20 32.79 113 0 0.00 37 55 59.78 PTPRN2 0 genome.wustl.edu 37 7 157931050 157931050 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 157931050 157931050 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.1137 p.A379 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 tier1 - - 40 0 0.00 26 12 31.58 39 0 0.00 17 4 19.05 NOS1 0 genome.wustl.edu 37 12 117718556 117718556 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 117718556 117718556 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1498 p.D500N 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 117 0 0.00 52 29 35.80 22 0 0.00 16 9 36.00 SCN3A 0 genome.wustl.edu 37 2 165946788 165946788 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 165946788 165946788 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.5875 p.D1959N 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 52 0 0.00 42 13 23.64 130 0 0.00 70 24 25.53 WNT3A 0 genome.wustl.edu 37 1 228210563 228210563 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 228210563 228210563 C T SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known silent c.267 p.T89 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 tier1 - - 47 0 0.00 23 11 32.35 33 0 0.00 11 2 15.38 CFHR4 0 genome.wustl.edu 37 1 196879469 196879469 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 196879469 196879469 G A SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known silent c.855 p.T285 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 tier1 - - 81 0 0.00 29 17 36.96 103 0 0.00 41 33 44.59 FLNB 0 genome.wustl.edu 37 3 58134560 58134560 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 58134560 58134560 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.6072 p.I2024 0.242 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 rs144036986 - 36 0 0.00 20 8 28.57 91 0 0.00 43 26 37.68 MOV10 0 genome.wustl.edu 37 1 113238120 113238120 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 113238120 113238120 G A SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.1703 p.R568Q 0.819 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 tier1 - - 74 0 0.00 49 13 20.97 125 0 0.00 103 15 12.61 COPE 0 genome.wustl.edu 37 19 19021843 19021843 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 19021843 19021843 G A SNP COPE ENST00000262812 human ensembl 74_37 -1 known missense c.227 p.S76F 1.000 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 tier1 - - 42 0 0.00 14 16 53.33 99 0 0.00 28 48 62.34 PRLR 0 genome.wustl.edu 37 5 35084606 35084606 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 35084606 35084606 G A SNP PRLR ENST00000382002 human ensembl 74_37 -1 known silent c.339 p.F113 0.183 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 75 0 0.00 81 23 22.12 146 0 0.00 118 35 22.88 ZNF786 0 genome.wustl.edu 37 7 148767611 148767611 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 148767611 148767611 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known silent c.2253 p.I751 0.001 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 ZNF786 HGNC ENSG00000197362 tier1 - - 41 0 0.00 24 5 17.24 95 0 0.00 52 20 27.78 CDH8 0 genome.wustl.edu 37 16 61687910 61687910 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 61687910 61687910 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.2002 p.D668N 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 101 0 0.00 60 29 32.58 148 0 0.00 84 43 33.86 IDUA 0 genome.wustl.edu 37 4 998110 998110 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 998110 998110 C T SNP IDUA ENST00000453894 human ensembl 74_37 +1 known missense c.1957 p.P653S 1.000 superfamily_Fibronectin_type3 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 tier1 - - 77 0 0.00 19 32 62.75 26 0 0.00 26 9 25.71 TBC1D9 0 genome.wustl.edu 37 4 141590131 141590131 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 141590131 141590131 C T SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1528 p.E510K 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 tier1 - - 79 0 0.00 19 35 64.81 66 0 0.00 15 28 65.12 DACT1 0 genome.wustl.edu 37 14 59112874 59112874 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 59112874 59112874 G A SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known silent c.1533 p.Q511 0.956 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 tier1 - - 47 0 0.00 30 17 36.17 116 0 0.00 70 25 26.32 ATP6V1G2 0 genome.wustl.edu 37 6 31513150 31513150 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 31513150 31513150 G A SNP ATP6V1G2 ENST00000483170 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP6V1G2 HGNC ENSG00000213760 tier1 - - 59 0 0.00 35 26 42.62 75 0 0.00 35 21 37.50 DEFB113 0 genome.wustl.edu 37 6 49936529 49936529 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 49936529 49936529 A G SNP DEFB113 ENST00000398718 human ensembl 74_37 -1 known missense c.110 p.L37P 0.135 NULL NULL - no_errors DEFB113 HGNC ENSG00000214642 tier1 - - 71 0 0.00 59 18 23.38 97 0 0.00 53 29 34.94 NLRP2 0 genome.wustl.edu 37 19 55481485 55481485 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 55481485 55481485 C T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.102 p.S34 0.001 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN 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 - - 55 0 0.00 31 23 42.59 59 0 0.00 34 28 45.16 LTBP2 0 genome.wustl.edu 37 14 74971722 74971722 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 74971722 74971722 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.4333 p.G1445R 1.000 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 tier1 - - 35 0 0.00 17 4 19.05 47 0 0.00 30 6 16.22 PCNXL2 0 genome.wustl.edu 37 1 233335983 233335983 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 233335983 233335983 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.2891 p.S964F 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 113 0 0.00 61 39 38.61 108 0 0.00 38 19 33.33 SH2D7 0 genome.wustl.edu 37 15 78393345 78393345 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 78393345 78393345 C T SNP SH2D7 ENST00000409568 human ensembl 74_37 +1 putative silent c.342 p.N114 0.007 NULL NULL - no_errors SH2D7 HGNC ENSG00000183476 tier1 - - 40 0 0.00 33 7 17.50 48 0 0.00 29 10 25.64 ANKRD45 0 genome.wustl.edu 37 1 173596261 173596261 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 173596261 173596261 G A SNP ANKRD45 ENST00000333279 human ensembl 74_37 -1 known silent c.534 p.V178 0.011 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD45 HGNC ENSG00000183831 tier1 - - 65 0 0.00 49 31 38.75 88 0 0.00 39 28 41.79 HECTD1 0 genome.wustl.edu 37 14 31588985 31588985 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 31588985 31588985 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.5326 p.P1776S 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 tier1 - - 70 0 0.00 56 42 42.86 105 1 0.94 65 36 35.64 KIF1A 0 genome.wustl.edu 37 2 241728729 241728729 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 241728729 241728729 G T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.107 p.T36N 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 124 0 0.00 59 28 32.18 160 0 0.00 72 48 40.00 SCAF11 0 genome.wustl.edu 37 12 46357927 46357927 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 46357927 46357927 G A SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known silent c.24 p.T8 0.006 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 tier1 - - 232 0 0.00 146 39 20.97 93 0 0.00 72 38 34.55 ZNF148 0 genome.wustl.edu 37 3 124951507 124951507 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 124951507 124951507 G A SNP ZNF148 ENST00000360647 human ensembl 74_37 -1 known missense c.2063 p.P688L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 tier1 - - 44 0 0.00 44 32 42.11 110 0 0.00 69 54 43.90 MIAT 0 genome.wustl.edu 37 22 27068673 27068673 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 27068673 27068673 G A SNP MIAT ENST00000421151 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MIAT HGNC ENSG00000225783 tier1 - - 19 0 0.00 6 6 50.00 35 0 0.00 34 15 30.61 COL5A3 0 genome.wustl.edu 37 19 10114285 10114285 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 10114285 10114285 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.805 p.E269K 0.970 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 56 0 0.00 18 48 72.73 129 0 0.00 30 80 72.73 ACSS3 0 genome.wustl.edu 37 12 81536978 81536978 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 81536978 81536978 A G SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known silent c.873 p.E291 0.995 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 75 0 0.00 40 20 33.33 64 0 0.00 53 24 31.17 ST8SIA4 0 genome.wustl.edu 37 5 100231446 100231446 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 100231446 100231446 C T SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.157 p.D53N 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 tier1 - - 93 0 0.00 33 22 40.00 120 0 0.00 39 42 51.85 SUSD1 0 genome.wustl.edu 37 9 114804167 114804167 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 114804167 114804167 G A SNP SUSD1 ENST00000374270 human ensembl 74_37 -1 known silent c.2223 p.F741 0.989 NULL pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 tier1 - - 27 0 0.00 5 12 70.59 85 0 0.00 23 40 63.49 DPPA4 0 genome.wustl.edu 37 3 109047903 109047903 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 109047903 109047903 G A SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known missense c.712 p.L238F 0.719 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 tier1 - - 33 0 0.00 22 10 31.25 85 0 0.00 69 25 26.32 TAS2R9 0 genome.wustl.edu 37 12 10962049 10962049 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 10962049 10962049 G A SNP TAS2R9 ENST00000240691 human ensembl 74_37 -1 known missense c.626 p.T209I 0.182 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R9 HGNC ENSG00000121381 tier1 - - 72 0 0.00 43 28 39.44 109 1 0.91 46 31 39.74 ENSG00000269533 0 genome.wustl.edu 37 19 57922526 57922526 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 57922526 57922526 C T SNP ENSG00000269533 ENST00000600421 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors AC003002.6 Clone_based_vega_gene ENSG00000269533 tier1 - - 54 0 0.00 12 11 47.83 73 0 0.00 38 23 37.70 SLCO3A1 0 genome.wustl.edu 37 15 92432389 92432389 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 92432389 92432389 C T SNP SLCO3A1 ENST00000555111 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 41 0 0.00 39 15 27.78 122 0 0.00 49 38 43.68 IKBIP 0 genome.wustl.edu 37 12 99007549 99007549 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 99007549 99007549 C T SNP IKBIP ENST00000342502 human ensembl 74_37 -1 known silent c.867 p.K289 1.000 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 tier1 - - 81 0 0.00 40 21 34.43 120 0 0.00 65 30 31.58 SIK1 0 genome.wustl.edu 37 21 44839073 44839073 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 44839073 44839073 C T SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known silent c.1290 p.R430 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 tier1 - - 95 0 0.00 88 29 24.79 18 0 0.00 14 9 39.13 BACH2 0 genome.wustl.edu 37 6 90660542 90660542 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 90660542 90660542 C A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.1283 p.R428L 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_D-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 tier1 - - 59 0 0.00 28 13 31.71 38 0 0.00 22 8 26.67 TRIM27 0 genome.wustl.edu 37 6 28872290 28872290 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 28872290 28872290 T C SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.1099 p.I367V 0.999 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 tier1 - - 80 0 0.00 47 24 33.80 143 0 0.00 68 35 33.98 CYP2S1 0 genome.wustl.edu 37 19 41704520 41704520 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 41704520 41704520 G A SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.647 p.G216E 0.990 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 tier1 - - 46 0 0.00 19 30 61.22 69 0 0.00 37 32 45.71 KCNT2 0 genome.wustl.edu 37 1 196300353 196300353 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 196300353 196300353 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2036 p.G679E 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 121 0 0.00 64 43 40.19 94 0 0.00 45 36 44.44 CNTP2 0 genome.wustl.edu 37 7 148117977 148117977 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 148117977 148117977 G A SNP CNTP2 ENST00000463592 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CNTP2 HGNC ENSG00000174469 tier1 - - 212 0 0.00 126 50 28.41 99 0 0.00 44 30 40.54 CAC2D3 0 genome.wustl.edu 37 3 54925446 54925446 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 54925446 54925446 C T SNP CAC2D3 ENST00000288197 human ensembl 74_37 +1 known silent c.2215 p.L739 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CAC2D3 HGNC ENSG00000157445 tier1 - - 64 0 0.00 52 27 34.18 74 0 0.00 51 37 42.05 KCNMB1 0 genome.wustl.edu 37 5 169810766 169810766 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 169810766 169810766 G A SNP KCNMB1 ENST00000274629 human ensembl 74_37 -1 known missense c.223 p.P75S 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB1 HGNC ENSG00000145936 tier1 - - 81 0 0.00 19 32 62.75 85 0 0.00 25 25 50.00 SGSM1 0 genome.wustl.edu 37 22 25255731 25255731 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 25255731 25255731 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.850 p.A284T 1.000 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 SGSM1 HGNC ENSG00000167037 tier1 - - 89 0 0.00 60 28 31.46 79 0 0.00 56 41 41.84 ZFHX3 0 genome.wustl.edu 37 16 72830075 72830075 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 72830075 72830075 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.6506 p.S2169F 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 51 0 0.00 16 28 63.64 69 0 0.00 35 35 50.00 SCN11A 0 genome.wustl.edu 37 3 38924861 38924861 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 38924861 38924861 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.3082 p.P1028S 0.248 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 43 0 0.00 32 22 40.74 111 0 0.00 60 53 46.90 KLKB1 0 genome.wustl.edu 37 4 187171550 187171550 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 187171550 187171550 C T SNP KLKB1 ENST00000264690 human ensembl 74_37 +1 known missense c.752 p.S251L 0.750 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 tier1 - - 77 0 0.00 31 32 50.79 100 0 0.00 36 31 46.27 TNXB 0 genome.wustl.edu 37 6 32039915 32039915 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 32039915 32039915 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.4842 p.R1614 0.987 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 TNXB HGNC ENSG00000168477 tier1 - - 50 0 0.00 35 10 22.22 59 0 0.00 26 16 38.10 DZIP3 0 genome.wustl.edu 37 3 108406846 108406846 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 108406846 108406846 G A SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.3173 p.R1058Q 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 tier1 rs138409858 - 139 0 0.00 89 51 36.43 98 0 0.00 58 47 43.93 ZFHX4 0 genome.wustl.edu 37 8 77763442 77763442 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 77763442 77763442 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4285 p.L1429F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 70 0 0.00 47 26 35.62 106 0 0.00 63 31 32.98 BCMO1 0 genome.wustl.edu 37 16 81295770 81295770 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 81295770 81295770 C T SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.353 p.P118L 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 tier1 - - 73 0 0.00 48 36 42.86 79 0 0.00 55 25 31.25 CASR 0 genome.wustl.edu 37 3 121980842 121980842 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 121980842 121980842 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known silent c.960 p.F320 0.980 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 tier1 - - 53 0 0.00 46 19 29.23 91 0 0.00 51 26 33.77 ANK3 0 genome.wustl.edu 37 10 61831215 61831215 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 61831215 61831215 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.9424 p.P3142S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 113 0 0.00 27 67 71.28 166 0 0.00 40 58 59.18 TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 7574003 7574003 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.1024 p.R342* 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 - - 22 0 0.00 2 13 86.67 84 0 0.00 34 29 46.03 PHLDB2 0 genome.wustl.edu 37 3 111604063 111604063 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 111604063 111604063 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1139 p.R380K 0.893 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 32 0 0.00 26 16 38.10 129 0 0.00 81 55 40.44 MUC5B 0 genome.wustl.edu 37 11 1267498 1267498 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 1267498 1267498 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.9397 p.G3133R 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 67 0 0.00 43 6 12.24 56 0 0.00 25 4 13.79 ATAD3B 0 genome.wustl.edu 37 1 1425758 1425758 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 1425758 1425758 C T SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known silent c.1459 p.L487 0.989 superfamily_P-loop_NTPase pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 tier1 - - 128 0 0.00 69 68 49.64 60 0 0.00 24 36 60.00 GTF2IRD2P1 0 genome.wustl.edu 37 7 72657937 72657937 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 72657937 72657937 C T SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.834 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 - - 104 1 0.95 63 22 25.88 62 0 0.00 23 17 42.50 UBE2V2 0 genome.wustl.edu 37 8 48973359 48973359 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 48973359 48973359 C T SNP UBE2V2 ENST00000523111 human ensembl 74_37 +1 known missense c.409 p.P137S 1.000 superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2V2 HGNC ENSG00000169139 tier1 - - 134 0 0.00 76 44 36.67 91 0 0.00 58 41 41.41 PNPLA1 0 genome.wustl.edu 37 6 36269799 36269799 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 36269799 36269799 G A SNP PNPLA1 ENST00000457797 human ensembl 74_37 +1 known missense c.940 p.E314K 0.000 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 tier1 - - 39 0 0.00 17 10 37.04 74 0 0.00 42 8 16.00 LRRC7 0 genome.wustl.edu 37 1 70488809 70488809 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 70488809 70488809 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1432 p.D478N 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 42 0 0.00 26 25 49.02 66 0 0.00 26 44 62.86 SLC14A1 0 genome.wustl.edu 37 18 43310340 43310340 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 43310340 43310340 G A SNP SLC14A1 ENST00000415427 human ensembl 74_37 +1 known missense c.223 p.E75K 0.662 NULL pfam_Urea_transporter - no_errors SLC14A1 HGNC ENSG00000141469 tier1 - - 67 0 0.00 22 39 63.93 156 0 0.00 28 86 75.44 SPRY1 0 genome.wustl.edu 37 4 124322809 124322809 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 124322809 124322809 G A SNP SPRY1 ENST00000339241 human ensembl 74_37 +1 known silent c.63 p.L21 0.999 NULL pfam_Sprouty - no_errors SPRY1 HGNC ENSG00000164056 tier1 - - 52 0 0.00 13 29 69.05 129 0 0.00 39 44 53.01 ARMC4 0 genome.wustl.edu 37 10 28233361 28233361 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 28233361 28233361 C T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known splice_site c.1534-1 e11-1 1.000 - - - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 80 0 0.00 35 20 36.36 94 0 0.00 99 45 31.03 FCN2 0 genome.wustl.edu 37 9 137779172 137779172 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 137779172 137779172 G A SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known missense c.853 p.G285S 0.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 tier1 - - 67 0 0.00 17 32 65.31 91 0 0.00 14 52 78.79 CNKSR3 0 genome.wustl.edu 37 6 154751693 154751693 + Silent SNP T T G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 154751693 154751693 T G SNP CNKSR3 ENST00000607772 human ensembl 74_37 -1 known silent c.582 p.T194 0.924 superfamily_PDZ pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 tier1 - - 103 0 0.00 78 39 33.33 117 0 0.00 71 30 29.70 SLTM 0 genome.wustl.edu 37 15 59182582 59182582 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 59182582 59182582 G A SNP SLTM ENST00000380516 human ensembl 74_37 -1 known silent c.1977 p.R659 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 tier1 - - 30 0 0.00 9 15 62.50 47 0 0.00 11 24 68.57 CCDC13 0 genome.wustl.edu 37 3 42734239 42734239 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 42734239 42734239 C T SNP CCDC13 ENST00000479631 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC13 HGNC ENSG00000244607 tier1 - - 49 0 0.00 30 22 42.31 120 0 0.00 45 30 40.00 MRRF 0 genome.wustl.edu 37 9 125048163 125048163 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 125048163 125048163 C T SNP MRRF ENST00000373724 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MRRF HGNC ENSG00000148187 tier1 - - 101 0 0.00 27 46 63.01 103 0 0.00 20 45 67.16 ARMC9 0 genome.wustl.edu 37 2 232234754 232234754 + R SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 232234754 232234754 T C SNP ARMC9 ENST00000483477 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ARMC9 HGNC ENSG00000135931 tier1 - - 100 0 0.00 37 27 42.19 62 0 0.00 27 24 47.06 MCM10 0 genome.wustl.edu 37 10 13230981 13230981 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 13230981 13230981 C T SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.1319 p.P440L 1.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 tier1 - - 39 0 0.00 26 22 45.83 76 0 0.00 50 29 36.71 DH3 0 genome.wustl.edu 37 16 21151772 21151772 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 21151772 21151772 C T SNP DH3 ENST00000575491 human ensembl 74_37 -1 known rna NULL NULL 0.267 - - - no_errors DH3 HGNC ENSG00000158486 tier1 - - 54 0 0.00 40 27 40.30 105 0 0.00 72 46 38.66 GRM2 0 genome.wustl.edu 37 3 51749376 51749376 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 51749376 51749376 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known silent c.1587 p.E529 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 tier1 - - 38 0 0.00 25 8 24.24 57 0 0.00 46 24 34.29 LOC100652999 0 genome.wustl.edu 37 12 53910391 53910391 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 53910391 53910391 G A SNP LOC100652999 ENST00000548347 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-793H13.3 Clone_based_vega_gene ENSG00000257550 tier1 - - 111 0 0.00 44 26 37.14 121 0 0.00 67 22 24.72 CCDC158 0 genome.wustl.edu 37 4 77290759 77290759 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 77290759 77290759 C T SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known silent c.1167 p.R389 0.991 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 tier1 - - 51 0 0.00 21 23 52.27 106 0 0.00 19 41 68.33 TRANK1 0 genome.wustl.edu 37 3 36893680 36893680 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 36893680 36893680 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.4574 p.G1525E 1.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 127 0 0.00 66 45 40.54 161 0 0.00 101 56 35.44 OR10A3 0 genome.wustl.edu 37 11 7960409 7960409 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 7960409 7960409 C T SNP OR10A3 ENST00000360759 human ensembl 74_37 -1 known missense c.659 p.R220Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A3 HGNC ENSG00000170683 tier1 - - 89 0 0.00 44 27 38.03 29 0 0.00 11 14 56.00 PCNX 0 genome.wustl.edu 37 14 71518660 71518660 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 71518660 71518660 C T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.4508 p.P1503L 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 43 0 0.00 36 11 23.40 62 0 0.00 54 13 19.40 CPSF6 0 genome.wustl.edu 37 12 69652823 69652823 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 69652823 69652823 C T SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known missense c.1259 p.P420L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 tier1 - - 15 0 0.00 6 8 57.14 118 0 0.00 68 22 24.44 VWDE 0 genome.wustl.edu 37 7 12410124 12410124 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 12410124 12410124 C T SNP VWDE ENST00000452576 human ensembl 74_37 -1 known missense c.1808 p.G603E 1.000 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 31 0 0.00 17 13 41.94 72 0 0.00 38 38 50.00 CLDN4 0 genome.wustl.edu 37 7 73245979 73245979 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 73245979 73245979 C T SNP CLDN4 ENST00000340958 human ensembl 74_37 +1 known missense c.448 p.P150S 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin4 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4 - no_errors CLDN4 HGNC ENSG00000189143 tier1 - - 46 0 0.00 25 11 30.56 52 0 0.00 31 14 31.11 TTN 0 genome.wustl.edu 37 2 179426428 179426428 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179426428 179426428 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.76727 p.S25576L 0.993 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 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 - - 57 0 0.00 44 12 21.43 138 0 0.00 80 18 18.37 ZAR1L 0 genome.wustl.edu 37 13 32886059 32886059 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 32886059 32886059 C T SNP ZAR1L ENST00000345108 human ensembl 74_37 -1 known missense c.4 p.E2K 1.000 NULL NULL - no_errors ZAR1L HGNC ENSG00000189167 tier1 - - 53 0 0.00 42 10 19.23 119 0 0.00 46 22 32.35 DSCAML1 0 genome.wustl.edu 37 11 117335657 117335657 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 117335657 117335657 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known splice_site c.3445+1 e17+1 1.000 - - - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 37 0 0.00 14 23 62.16 56 0 0.00 13 21 61.76 PDE1C 0 genome.wustl.edu 37 7 31887593 31887593 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 31887593 31887593 C T SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.969 p.K323 0.999 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 97 0 0.00 67 12 15.19 129 0 0.00 101 35 25.74 SLC38A8 0 genome.wustl.edu 37 16 84070431 84070431 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 84070431 84070431 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known silent c.264 p.Y88 1.000 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 tier1 - - 86 0 0.00 70 40 36.36 52 0 0.00 22 11 33.33 FLJ36000 0 genome.wustl.edu 37 17 21911729 21911729 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 21911729 21911729 G A SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 tier1 - - 27 0 0.00 11 25 69.44 83 0 0.00 26 28 51.85 ATP6V1G2 0 genome.wustl.edu 37 6 31513151 31513151 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 31513151 31513151 G A SNP ATP6V1G2 ENST00000483170 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP6V1G2 HGNC ENSG00000213760 tier1 - - 61 0 0.00 35 26 42.62 75 0 0.00 35 21 37.50 COL8A1 0 genome.wustl.edu 37 3 99514510 99514510 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 99514510 99514510 G A SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.1765 p.G589R 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 tier1 - - 60 0 0.00 35 14 28.57 108 0 0.00 66 49 42.61 SNX7 0 genome.wustl.edu 37 1 99157133 99157133 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 99157133 99157133 T C SNP SNX7 ENST00000306121 human ensembl 74_37 +1 known missense c.517 p.F173L 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX7 HGNC ENSG00000162627 tier1 - - 177 0 0.00 101 108 51.67 117 0 0.00 56 54 49.09 ZDHHC16 0 genome.wustl.edu 37 10 99216801 99216801 + R SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 99216801 99216801 T A SNP ZDHHC16 ENST00000487315 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZDHHC16 HGNC ENSG00000171307 tier1 - - 83 0 0.00 22 40 64.52 126 0 0.00 26 50 65.79 CHD6 0 genome.wustl.edu 37 20 40033678 40033678 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 40033678 40033678 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.7703 p.T2568I 0.970 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 tier1 - - 77 0 0.00 74 37 33.33 124 0 0.00 81 56 40.58 PDCD2L 0 genome.wustl.edu 37 19 34900200 34900200 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 34900200 34900200 C T SNP PDCD2L ENST00000246535 human ensembl 74_37 +1 known silent c.471 p.D157 0.999 NULL pfam_PDCD2_C - no_errors PDCD2L HGNC ENSG00000126249 tier1 - - 61 0 0.00 44 20 31.25 85 0 0.00 56 26 31.71 A1CF 0 genome.wustl.edu 37 10 52588055 52588055 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 52588055 52588055 C T SNP A1CF ENST00000282641 human ensembl 74_37 -1 known missense c.605 p.G202E 1.000 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 A1CF HGNC ENSG00000148584 tier1 - - 55 0 0.00 17 25 59.52 105 0 0.00 20 39 66.10 TMEM108 0 genome.wustl.edu 37 3 133099899 133099899 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 133099899 133099899 C T SNP TMEM108 ENST00000321871 human ensembl 74_37 +1 known silent c.1344 p.S448 0.876 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 tier1 - - 24 0 0.00 16 17 51.52 45 0 0.00 25 19 43.18 B3GNTL1 0 genome.wustl.edu 37 17 80914630 80914630 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 80914630 80914630 G A SNP B3GNTL1 ENST00000320865 human ensembl 74_37 -1 known nonsense c.946 p.R316* 0.353 NULL pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC ENSG00000175711 tier1 rs199962764 - 101 0 0.00 30 56 65.12 86 0 0.00 35 60 62.50 STK11 0 genome.wustl.edu 37 19 1220483 1220483 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 1220483 1220483 C T SNP STK11 ENST00000326873 human ensembl 74_37 +1 known silent c.576 p.I192 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK11 HGNC ENSG00000118046 tier1 - - 61 0 0.00 15 58 79.45 51 0 0.00 10 26 72.22 DH7 0 genome.wustl.edu 37 2 196753051 196753051 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 196753051 196753051 C T SNP DH7 ENST00000312428 human ensembl 74_37 -1 known silent c.5337 p.K1779 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DH7 HGNC ENSG00000118997 tier1 - - 56 0 0.00 44 9 16.98 122 0 0.00 83 14 14.43 ANKRD32 0 genome.wustl.edu 37 5 94001632 94001632 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 94001632 94001632 C T SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known missense c.1435 p.P479S 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 tier1 - - 60 0 0.00 13 12 48.00 72 0 0.00 25 23 47.92 MTUS2 0 genome.wustl.edu 37 13 29600062 29600062 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 29600062 29600062 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known silent c.1257 p.Q419 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 39 0 0.00 30 13 30.23 143 0 0.00 59 29 32.95 NEU3 0 genome.wustl.edu 37 11 74700062 74700062 + Splice_Site SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 74700062 74700062 G A SNP NEU3 ENST00000531509 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.000 - - - no_errors NEU3 HGNC ENSG00000162139 tier1 - - 110 0 0.00 55 41 42.71 49 0 0.00 35 15 30.00 ASB10 0 genome.wustl.edu 37 7 150878388 150878388 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 150878388 150878388 C T SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.877 p.G293S 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 tier1 - - 97 0 0.00 48 34 41.46 24 0 0.00 20 10 33.33 MDGA1 0 genome.wustl.edu 37 6 37613720 37613720 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 37613720 37613720 G A SNP MDGA1 ENST00000434837 human ensembl 74_37 -1 known missense c.2237 p.P746L 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 88 0 0.00 52 19 26.76 155 0 0.00 83 34 29.06 AK9 0 genome.wustl.edu 37 6 109849861 109849861 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 109849861 109849861 G A SNP AK9 ENST00000341338 human ensembl 74_37 -1 known missense c.964 p.P322S 0.000 NULL pfam_Adenylate_kin,pfam_YHS_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 45 0 0.00 20 21 51.22 59 0 0.00 39 20 33.33 DCUN1D4 0 genome.wustl.edu 37 4 52743988 52743988 + Missense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 52743988 52743988 A T SNP DCUN1D4 ENST00000451288 human ensembl 74_37 +1 known missense c.443 p.K148I 1.000 NULL pfam_PONY_dom - no_errors DCUN1D4 HGNC ENSG00000109184 tier1 - - 204 0 0.00 140 76 35.19 121 0 0.00 85 34 28.57 WDR87 0 genome.wustl.edu 37 19 38377043 38377043 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 38377043 38377043 C T SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.7268 p.G2423E 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 65 0 0.00 65 13 16.67 153 0 0.00 112 33 22.76 AAED1 0 genome.wustl.edu 37 9 99417118 99417118 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 99417118 99417118 C T SNP AAED1 ENST00000464512 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AAED1 HGNC ENSG00000158122 tier1 - - 47 0 0.00 13 33 71.74 60 0 0.00 23 19 45.24 FUT9 0 genome.wustl.edu 37 6 96651317 96651317 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 96651317 96651317 G A SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.286 p.D96N 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 tier1 - - 48 0 0.00 18 30 62.50 77 0 0.00 41 44 51.76 DJB3 0 genome.wustl.edu 37 2 234651547 234651547 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 234651547 234651547 G A SNP DJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DJB3 HGNC ENSG00000227802 tier1 - - 61 0 0.00 24 6 20.00 52 0 0.00 49 10 16.95 BPIFB4 0 genome.wustl.edu 37 20 31672720 31672720 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 31672720 31672720 C T SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.700 p.L234F 0.981 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 tier1 - - 87 0 0.00 60 37 37.76 41 0 0.00 19 7 26.92 CDH8 0 genome.wustl.edu 37 16 61935302 61935302 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 61935302 61935302 G A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known nonsense c.328 p.Q110* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 62 0 0.00 37 25 40.32 99 0 0.00 50 22 30.56 DH6 0 genome.wustl.edu 37 2 85032873 85032873 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 85032873 85032873 G A SNP DH6 ENST00000237449 human ensembl 74_37 +1 known missense c.11566 p.E3856K 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH6 HGNC ENSG00000115423 tier1 - - 92 0 0.00 49 48 49.48 145 0 0.00 50 55 52.38 KCNB2 0 genome.wustl.edu 37 8 73848263 73848263 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 73848263 73848263 G A SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.673 p.G225R 1.000 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 - - 47 0 0.00 40 21 34.43 128 0 0.00 57 36 38.30 KCNQ5 0 genome.wustl.edu 37 6 73787510 73787510 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 73787510 73787510 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.818 p.G273E 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 70 0 0.00 81 27 25.00 103 0 0.00 68 28 29.17 NIN 0 genome.wustl.edu 37 14 51206166 51206166 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 51206166 51206166 G A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.5488 p.H1830Y 0.528 NULL superfamily_tR-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 79 0 0.00 42 61 59.22 95 0 0.00 42 46 52.27 KCNK2 0 genome.wustl.edu 37 1 215259781 215259781 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 215259781 215259781 G A SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known silent c.117 p.T39 0.984 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 tier1 - - 66 0 0.00 40 20 33.33 100 1 0.99 70 19 21.35 BCL6 0 genome.wustl.edu 37 3 187443403 187443403 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 187443403 187443403 G A SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.1723 p.R575C 1.000 pfam_Znf_C2H2,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 BCL6 HGNC ENSG00000113916 tier1 - - 64 0 0.00 58 26 30.95 167 0 0.00 83 37 30.83 UNC80 0 genome.wustl.edu 37 2 210745768 210745768 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 210745768 210745768 C T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known silent c.4066 p.L1356 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 64 0 0.00 36 21 36.84 107 0 0.00 62 39 38.61 MARCO 0 genome.wustl.edu 37 2 119749400 119749400 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 119749400 119749400 C T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.1156 p.P386S 0.003 pfam_Collagen pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 64 0 0.00 47 11 18.97 39 0 0.00 32 4 11.11 TTN 0 genome.wustl.edu 37 2 179458060 179458060 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179458060 179458060 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.51171 p.W17057* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 130 0 0.00 56 29 34.12 152 0 0.00 56 46 45.10 CNNM4 0 genome.wustl.edu 37 2 97427812 97427812 + Missense_Mutation SNP T T G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 97427812 97427812 T G SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.1076 p.L359R 1.000 NULL pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 tier1 - - 39 0 0.00 13 15 53.57 129 0 0.00 49 48 49.48 GPBP1L1 0 genome.wustl.edu 37 1 46094016 46094016 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 46094016 46094016 G A SNP GPBP1L1 ENST00000290795 human ensembl 74_37 -1 known missense c.1337 p.P446L 1.000 NULL NULL - no_errors GPBP1L1 HGNC ENSG00000159592 tier1 - - 38 0 0.00 25 15 37.50 112 0 0.00 71 54 42.86 FAM160A1 0 genome.wustl.edu 37 4 152571230 152571230 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 152571230 152571230 C T SNP FAM160A1 ENST00000435205 human ensembl 74_37 +1 known silent c.2037 p.I679 0.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 tier1 - - 52 0 0.00 18 21 53.85 117 1 0.85 24 41 63.08 AGPAT3 0 genome.wustl.edu 37 21 45401061 45401061 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 45401061 45401061 G A SNP AGPAT3 ENST00000291572 human ensembl 74_37 +1 known silent c.1035 p.V345 0.775 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT3 HGNC ENSG00000160216 tier1 - - 42 0 0.00 37 16 30.19 114 0 0.00 60 31 34.07 GIMAP6 0 genome.wustl.edu 37 7 150327159 150327159 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 150327159 150327159 C T SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known silent c.72 p.L24 0.000 superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 tier1 - - 44 0 0.00 26 9 25.71 55 1 1.79 41 23 35.38 LOC100287896 0 genome.wustl.edu 37 11 74207928 74207928 + R SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 74207928 74207928 C A SNP LOC100287896 ENST00000526036 human ensembl 74_37 +1 known rna NULL NULL 0.209 - - - no_errors AP001372.2 Clone_based_vega_gene ENSG00000254837 tier1 - - 13 0 0.00 18 10 35.71 104 0 0.00 54 38 41.30 V1 0 genome.wustl.edu 37 1 201777651 201777651 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 201777651 201777651 G A SNP V1 ENST00000367296 human ensembl 74_37 +1 known silent c.3951 p.K1317 0.996 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors V1 HGNC ENSG00000134369 tier1 - - 69 0 0.00 32 11 25.58 106 0 0.00 54 18 25.00 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48873756 48873756 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 48873756 48873756 G A SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.2665 p.E889K 0.760 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 tier1 - - 73 0 0.00 57 9 13.64 113 0 0.00 89 21 19.09 DH9 0 genome.wustl.edu 37 17 11687748 11687748 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 11687748 11687748 G A SNP DH9 ENST00000262442 human ensembl 74_37 +1 known silent c.7953 p.L2651 0.824 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 - - 61 0 0.00 18 22 55.00 126 0 0.00 33 44 57.14 PLCB1 0 genome.wustl.edu 37 20 8637849 8637849 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 8637849 8637849 G A SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.613 p.E205K 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 66 0 0.00 57 23 28.75 86 0 0.00 76 40 34.48 MUC19 0 genome.wustl.edu 37 12 40823467 40823467 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 40823467 40823467 C T SNP MUC19 ENST00000454784 human ensembl 74_37 +1 novel silent c.768 p.F256 0.959 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 82 0 0.00 52 14 21.21 143 0 0.00 55 42 43.30 BAZ2A 0 genome.wustl.edu 37 12 56995526 56995526 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 56995526 56995526 G A SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.3881 p.P1294L 0.994 NULL pfam_Bromodomain,pfam_Methyl_CpG_D-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_D-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_D-bd,smart_AT_hook_D-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_D-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 31 0 0.00 16 17 51.52 77 0 0.00 25 13 34.21 KBTBD12 0 genome.wustl.edu 37 3 127642470 127642470 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 127642470 127642470 C T SNP KBTBD12 ENST00000405109 human ensembl 74_37 +1 known missense c.566 p.S189F 0.976 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 tier1 - - 79 0 0.00 69 36 34.29 87 0 0.00 86 29 25.22 ZC3H18 0 genome.wustl.edu 37 16 88643765 88643765 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 88643765 88643765 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known silent c.234 p.S78 0.997 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 - - 51 0 0.00 37 30 44.78 53 0 0.00 41 23 35.94 ENSG00000203849 0 genome.wustl.edu 37 1 142729915 142729915 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 142729915 142729915 C T SNP ENSG00000203849 ENST00000610091 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 216 0 0.00 192 43 18.30 9 0 0.00 11 4 26.67 ARHGAP29 0 genome.wustl.edu 37 1 94643582 94643582 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 94643582 94643582 C T SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known silent c.2622 p.L874 0.340 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 - - 58 0 0.00 35 25 41.67 100 0 0.00 54 54 50.00 ALPK3 0 genome.wustl.edu 37 15 85383923 85383923 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 85383923 85383923 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.2019 p.T673 0.019 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 139 0 0.00 78 21 21.21 49 0 0.00 31 9 22.50 GTPBP8 0 genome.wustl.edu 37 3 112709809 112709809 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 112709809 112709809 G A SNP GTPBP8 ENST00000609673 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-484K9.4 Clone_based_vega_gene ENSG00000272844 tier1 - - 30 0 0.00 29 14 32.56 18 0 0.00 18 5 21.74 POLG 0 genome.wustl.edu 37 15 89869847 89869847 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 89869847 89869847 G T SNP POLG ENST00000268124 human ensembl 74_37 -1 known missense c.1708 p.P570T 1.000 pirsf_D-dir_D_pol_A_mt_sub pirsf_D-dir_D_pol_A_mt_sub,pfam_D-dir_D_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_A_palm_dom,prints_D-dir_D_pol_A_mt - no_errors POLG HGNC ENSG00000140521 tier1 - - 30 0 0.00 24 13 35.14 46 0 0.00 18 13 41.94 FER1L6 0 genome.wustl.edu 37 8 125132008 125132008 + Missense_Mutation SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 125132008 125132008 C G SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.5551 p.R1851G 0.973 superfamily_ABC1_TM_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 - - 38 0 0.00 36 4 10.00 85 0 0.00 65 21 24.42 TMPRSS11B 0 genome.wustl.edu 37 4 69100305 69100305 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 69100305 69100305 C T SNP TMPRSS11B ENST00000332644 human ensembl 74_37 -1 known silent c.345 p.L115 0.069 pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11B HGNC ENSG00000185873 tier1 - - 96 0 0.00 26 49 65.33 110 0 0.00 26 37 58.73 C7orf55-LUC7L2 0 genome.wustl.edu 37 7 139107185 139107185 + R SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 139107185 139107185 A G SNP C7orf55-LUC7L2 ENST00000482860 human ensembl 74_37 +1 known rna NULL NULL 0.967 - - - no_errors C7orf55-LUC7L2 HGNC ENSG00000146963 tier1 - - 49 0 0.00 22 9 29.03 77 1 1.28 52 17 24.64 TENM4 0 genome.wustl.edu 37 11 78440565 78440565 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 78440565 78440565 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.3262 p.L1088F 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 51 0 0.00 35 9 20.45 100 0 0.00 61 13 17.57 DNTTIP1 0 genome.wustl.edu 37 20 44439823 44439823 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 44439823 44439823 C T SNP DNTTIP1 ENST00000372622 human ensembl 74_37 +1 known missense c.979 p.P327S 0.001 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 tier1 - - 42 0 0.00 32 15 31.91 73 0 0.00 64 16 20.00 DH7 0 genome.wustl.edu 37 2 196740465 196740465 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 196740465 196740465 C T SNP DH7 ENST00000312428 human ensembl 74_37 -1 known missense c.6220 p.D2074N 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DH7 HGNC ENSG00000118997 tier1 - - 76 0 0.00 58 35 37.63 97 0 0.00 50 25 32.89 SSMEM1 0 genome.wustl.edu 37 7 129856077 129856077 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 129856077 129856077 G A SNP SSMEM1 ENST00000297819 human ensembl 74_37 +1 known missense c.502 p.E168K 0.993 NULL NULL - no_errors SSMEM1 HGNC ENSG00000165120 tier1 - - 58 0 0.00 46 12 20.69 115 0 0.00 56 12 17.65 SP140 0 genome.wustl.edu 37 2 231103666 231103666 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 231103666 231103666 G A SNP SP140 ENST00000544128 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SP140 HGNC ENSG00000079263 tier1 - - 34 0 0.00 18 18 50.00 102 0 0.00 44 27 38.03 OBSCN 0 genome.wustl.edu 37 1 228476585 228476585 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 228476585 228476585 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.10335 p.V3445 0.106 smart_Ig_sub 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 - - 78 0 0.00 47 14 22.95 73 0 0.00 52 9 14.75 INMT 0 genome.wustl.edu 37 7 30793389 30793389 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 30793389 30793389 C T SNP INMT ENST00000013222 human ensembl 74_37 +1 known missense c.197 p.P66L 0.992 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 tier1 - - 69 0 0.00 60 21 25.61 110 0 0.00 105 38 26.57 DRD2 0 genome.wustl.edu 37 11 113295128 113295128 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 113295128 113295128 G A SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known silent c.246 p.L82 0.652 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 tier1 - - 42 0 0.00 10 22 68.75 52 0 0.00 25 15 37.50 ENSG00000260874 0 genome.wustl.edu 37 16 2506454 2506454 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 2506454 2506454 C T SNP ENSG00000260874 ENST00000566085 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-715J22.4 Clone_based_vega_gene ENSG00000260874 tier1 - - 24 0 0.00 14 10 41.67 121 0 0.00 72 45 38.46 CXorf66 0 genome.wustl.edu 37 X 139038581 139038581 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 139038581 139038581 C T SNP CXorf66 ENST00000370540 human ensembl 74_37 -1 known missense c.560 p.S187N 0.000 NULL NULL - no_errors CXorf66 HGNC ENSG00000203933 tier1 - - 47 0 0.00 8 22 73.33 48 0 0.00 22 35 61.40 LOC100506731 0 genome.wustl.edu 37 14 85995923 85995923 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 85995923 85995923 G A SNP LOC100506731 ENST00000380722 human ensembl 74_37 -1 known rna NULL NULL 0.411 - - - no_errors RP11-497E19.1 Clone_based_vega_gene ENSG00000205562 tier1 - - 28 0 0.00 4 6 60.00 169 0 0.00 86 82 48.81 C1QB 0 genome.wustl.edu 37 1 22987377 22987377 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 22987377 22987377 G A SNP C1QB ENST00000314933 human ensembl 74_37 +1 known missense c.260 p.G87E 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QB HGNC ENSG00000173369 tier1 rs3211003 - 31 0 0.00 15 27 64.29 78 0 0.00 24 38 60.32 FSIP2 0 genome.wustl.edu 37 2 186656683 186656683 + Missense_Mutation SNP T T G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 186656683 186656683 T G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.5087 p.I1696S 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 62 0 0.00 57 11 16.18 138 0 0.00 63 14 18.18 APOBEC3B 0 genome.wustl.edu 37 22 39380212 39380212 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 39380212 39380212 G A SNP APOBEC3B ENST00000333467 human ensembl 74_37 +1 known nonsense c.150 p.W50* 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 tier1 - - 108 0 0.00 73 22 23.16 86 0 0.00 70 18 20.45 KMT2B 0 genome.wustl.edu 37 19 36212555 36212555 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 36212555 36212555 T C SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.2306 p.M769T 0.002 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 181 0 0.00 72 72 50.00 32 0 0.00 16 10 38.46 ITGAV 0 genome.wustl.edu 37 2 187523819 187523819 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 187523819 187523819 C T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.1774 p.R592W 0.535 pfam_Integrin_alpha-2,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 tier1 rs200949549 - 47 0 0.00 44 19 30.16 129 0 0.00 93 12 11.43 INTS8 0 genome.wustl.edu 37 8 95840008 95840008 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 95840008 95840008 C T SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.505 p.P169S 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 tier1 - - 134 0 0.00 157 53 25.24 151 0 0.00 101 58 36.25 TPTE 0 genome.wustl.edu 37 21 11029674 11029674 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 11029674 11029674 G A SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TPTE HGNC ENSG00000166157 tier1 - - 400 0 0.00 300 91 23.27 42 0 0.00 43 10 18.52 PAPLN 0 genome.wustl.edu 37 14 73727967 73727967 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 73727967 73727967 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.2210 p.P737L 0.995 NULL pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 tier1 - - 32 0 0.00 8 12 60.00 54 0 0.00 17 13 43.33 CELA2A 0 genome.wustl.edu 37 1 15788055 15788055 + Splice_Site SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 15788055 15788055 G A SNP CELA2A ENST00000359621 human ensembl 74_37 +1 known splice_site c.130-1 e3-1 1.000 - - - no_errors CELA2A HGNC ENSG00000142615 tier1 - - 51 0 0.00 71 13 15.48 51 0 0.00 33 4 10.81 CR1 0 genome.wustl.edu 37 1 207787831 207787831 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 207787831 207787831 G A SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.6658 p.E2220K 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 tier1 - - 270 0 0.00 186 52 21.85 83 0 0.00 50 11 18.03 XIST 0 genome.wustl.edu 37 X 73046088 73046088 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 73046088 73046088 C T SNP XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 41 0 0.00 8 24 75.00 49 0 0.00 14 35 70.00 C1orf87 0 genome.wustl.edu 37 1 60505853 60505853 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 60505853 60505853 C T SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known splice_site c.484-1 e4-1 0.126 - - - no_errors C1orf87 HGNC ENSG00000162598 tier1 - - 50 0 0.00 61 21 25.61 108 0 0.00 96 22 18.64 ZFHX2 0 genome.wustl.edu 37 14 23991827 23991827 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 23991827 23991827 C T SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known missense c.7063 p.G2355R 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 - - 45 0 0.00 19 12 38.71 27 0 0.00 29 10 25.64 GIMAP6 0 genome.wustl.edu 37 7 150327158 150327158 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 150327158 150327158 C T SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known missense c.73 p.E25K 0.000 superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 tier1 - - 45 0 0.00 27 9 25.00 56 1 1.75 42 23 34.85 SLC25A12 0 genome.wustl.edu 37 2 172644335 172644335 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 172644335 172644335 C T SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known missense c.1708 p.E570K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 tier1 - - 40 0 0.00 40 13 24.53 103 0 0.00 58 10 14.71 RAB38 0 genome.wustl.edu 37 11 87908394 87908394 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 87908394 87908394 C T SNP RAB38 ENST00000243662 human ensembl 74_37 -1 known nonsense c.159 p.W53* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB38 HGNC ENSG00000123892 tier1 - - 96 0 0.00 56 55 49.55 34 0 0.00 15 10 40.00 NEUROD1 0 genome.wustl.edu 37 2 182543168 182543168 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 182543168 182543168 G A SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known silent c.420 p.I140 0.998 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 tier1 - - 63 0 0.00 35 24 40.68 54 0 0.00 28 20 41.67 TMED2 0 genome.wustl.edu 37 12 124069230 124069230 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 124069230 124069230 C T SNP TMED2 ENST00000262225 human ensembl 74_37 +1 known missense c.47 p.A16V 1.000 NULL pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED2 HGNC ENSG00000086598 tier1 - - 96 0 0.00 69 14 16.87 38 0 0.00 30 6 16.67 KIAA1109 0 genome.wustl.edu 37 4 123274193 123274193 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 123274193 123274193 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.13984 p.H4662Y 1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 108 0 0.00 17 41 70.69 121 0 0.00 49 53 51.96 STAG1 0 genome.wustl.edu 37 3 136240115 136240115 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 136240115 136240115 G A SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.616 p.L206F 1.000 pfam_STAG,superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 tier1 - - 109 0 0.00 71 55 43.65 106 1 0.93 70 50 41.67 FITM2 0 genome.wustl.edu 37 20 42935415 42935415 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 42935415 42935415 G A SNP FITM2 ENST00000396825 human ensembl 74_37 -1 known silent c.639 p.F213 1.000 pfam_FIT pfam_FIT - no_errors FITM2 HGNC ENSG00000197296 tier1 - - 73 0 0.00 57 49 46.23 160 0 0.00 98 68 40.72 ADCK1 0 genome.wustl.edu 37 14 78392116 78392116 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 78392116 78392116 G A SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known missense c.1018 p.E340K 0.766 superfamily_Kinase-like_dom pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 tier1 - - 81 0 0.00 61 7 10.29 84 0 0.00 49 7 12.50 ZNF180 0 genome.wustl.edu 37 19 44980972 44980972 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 44980972 44980972 G A SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known missense c.1726 p.P576S 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 tier1 - - 75 0 0.00 31 34 52.31 99 0 0.00 49 51 51.00 LRRN2 0 genome.wustl.edu 37 1 204587480 204587480 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 204587480 204587480 G A SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known silent c.1641 p.T547 0.038 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 tier1 - - 51 0 0.00 31 12 27.91 83 0 0.00 40 11 21.57 TEKT1 0 genome.wustl.edu 37 17 6719281 6719281 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 6719281 6719281 C T SNP TEKT1 ENST00000575592 human ensembl 74_37 -1 known missense c.191 p.G64E 1.000 pfam_Tektin pfam_Tektin - no_errors TEKT1 HGNC ENSG00000167858 tier1 - - 27 0 0.00 16 14 46.67 64 0 0.00 21 25 54.35 LYRM1 0 genome.wustl.edu 37 16 20935434 20935434 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 20935434 20935434 C T SNP LYRM1 ENST00000219168 human ensembl 74_37 +1 known missense c.365 p.S122F 1.000 NULL pfam_Complex1_LYR - no_errors LYRM1 HGNC ENSG00000102897 tier1 - - 69 0 0.00 30 31 50.82 121 0 0.00 73 33 30.84 KCNQ5 0 genome.wustl.edu 37 6 73751664 73751664 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 73751664 73751664 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known silent c.495 p.F165 0.998 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 79 0 0.00 35 35 50.00 129 0 0.00 75 35 31.82 KCNJ6 0 genome.wustl.edu 37 21 39086812 39086812 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 39086812 39086812 C T SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known silent c.648 p.G216 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 tier1 - - 68 0 0.00 43 11 20.37 179 0 0.00 81 48 37.21 OGDHL 0 genome.wustl.edu 37 10 50944095 50944095 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 50944095 50944095 G A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known silent c.2883 p.T961 0.451 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 20 0 0.00 9 11 55.00 65 0 0.00 16 31 65.96 ADCY10P1 0 genome.wustl.edu 37 6 41095319 41095319 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 41095319 41095319 C T SNP ADCY10P1 ENST00000567255 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors ADCY10P1 HGNC ENSG00000161912 tier1 - - 85 0 0.00 40 38 48.72 98 0 0.00 49 39 44.32 GBE1 0 genome.wustl.edu 37 3 81699029 81699029 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 81699029 81699029 G A SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.473 p.S158L 1.000 pfam_Glyco_hydro_13_N,superfamily_Ig_E-set pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 - - 81 0 0.00 55 40 42.11 146 0 0.00 74 54 42.19 SCN11A 0 genome.wustl.edu 37 3 38945543 38945543 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 38945543 38945543 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.1655 p.S552F 0.547 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 76 0 0.00 69 25 26.60 118 0 0.00 82 36 30.51 GRIK1 0 genome.wustl.edu 37 21 31045377 31045377 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 31045377 31045377 C T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.652 p.E218K 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 tier1 - - 67 0 0.00 53 28 34.57 79 0 0.00 41 37 47.44 WBSCR17 0 genome.wustl.edu 37 7 71036341 71036341 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 71036341 71036341 C T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1034 p.P345L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 87 0 0.00 59 21 26.25 138 0 0.00 39 16 29.09 ZC2HC1A 0 genome.wustl.edu 37 8 79610654 79610654 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 79610654 79610654 C T SNP ZC2HC1A ENST00000263849 human ensembl 74_37 +1 known missense c.610 p.P204S 0.063 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 tier1 - - 89 0 0.00 70 19 21.35 111 0 0.00 54 36 40.00 PRLR 0 genome.wustl.edu 37 5 35086389 35086389 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 35086389 35086389 C T SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.124 p.E42K 1.000 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 120 0 0.00 60 45 42.86 139 0 0.00 68 68 50.00 TTN 0 genome.wustl.edu 37 2 179611691 179611691 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179611691 179611691 C T SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.15436 p.E5146K 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 68 0 0.00 34 23 40.35 124 0 0.00 58 21 26.58 RPS6KA1 0 genome.wustl.edu 37 1 26900607 26900607 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 26900607 26900607 C T SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known missense c.2150 p.S717F 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 tier1 - - 78 0 0.00 35 30 46.15 33 0 0.00 16 12 42.86 CTXN2 0 genome.wustl.edu 37 15 48493637 48493637 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 48493637 48493637 G A SNP CTXN2 ENST00000417307 human ensembl 74_37 +1 known missense c.140 p.R47Q 1.000 pfam_Cortexin pfam_Cortexin - no_errors CTXN2 HGNC ENSG00000233932 tier1 - - 73 0 0.00 27 31 53.45 89 0 0.00 37 30 44.78 UNC5D 0 genome.wustl.edu 37 8 35544127 35544127 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 35544127 35544127 G A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.984 p.R328 0.290 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,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 UNC5D HGNC ENSG00000156687 tier1 - - 61 0 0.00 23 23 50.00 56 0 0.00 34 12 26.09 MIR520B 0 genome.wustl.edu 37 19 54204530 54204530 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 54204530 54204530 C T SNP MIR520B ENST00000384989 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors MIR520B HGNC ENSG00000207722 tier1 - - 68 0 0.00 39 40 50.63 54 0 0.00 17 19 52.78 WT1-AS 0 genome.wustl.edu 37 11 32460385 32460385 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 32460385 32460385 G A SNP WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WT1-AS HGNC ENSG00000183242 tier1 - - 46 0 0.00 16 15 48.39 143 1 0.69 56 71 55.91 ADCY10P1 0 genome.wustl.edu 37 6 41090970 41090970 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 41090970 41090970 G A SNP ADCY10P1 ENST00000567255 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors ADCY10P1 HGNC ENSG00000161912 tier1 - - 47 0 0.00 25 6 19.35 117 0 0.00 92 19 16.96 SCUBE1 0 genome.wustl.edu 37 22 43715970 43715970 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 43715970 43715970 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.322 p.L108 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 tier1 - - 68 0 0.00 48 25 34.25 73 0 0.00 69 17 19.77 TNXB 0 genome.wustl.edu 37 6 32053875 32053875 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 32053875 32053875 A G SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.2800 p.L934 1.000 NULL 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 TNXB HGNC ENSG00000168477 tier1 - - 58 0 0.00 33 19 36.54 39 0 0.00 25 19 43.18 MYH7B 0 genome.wustl.edu 37 20 33570357 33570357 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 33570357 33570357 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.749 p.A250V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tR-bd_arm,superfamily_t-SRE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 144 0 0.00 92 58 38.67 43 0 0.00 39 17 30.36 TESPA1 0 genome.wustl.edu 37 12 55356787 55356787 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 55356787 55356787 G A SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.895 p.R299W 0.001 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 tier1 - - 33 0 0.00 17 8 32.00 32 0 0.00 19 13 40.62 BIN1 0 genome.wustl.edu 37 2 127828348 127828348 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 127828348 127828348 G A SNP BIN1 ENST00000316724 human ensembl 74_37 -1 known silent c.210 p.A70 0.968 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 tier1 - - 43 0 0.00 24 7 22.58 45 0 0.00 20 7 25.93 KMT2B 0 genome.wustl.edu 37 19 36214021 36214021 + Silent SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 36214021 36214021 C A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.2847 p.P949 0.055 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 121 0 0.00 100 25 20.00 27 0 0.00 32 4 11.11 PLCE1 0 genome.wustl.edu 37 10 96053358 96053358 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 96053358 96053358 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.5129 p.P1710L 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 85 0 0.00 39 32 45.07 114 0 0.00 30 68 69.39 NOVA1 0 genome.wustl.edu 37 14 26949194 26949194 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 26949194 26949194 G A SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.436 p.R146C 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 tier1 - - 83 0 0.00 63 10 13.70 138 0 0.00 81 31 27.68 VSX2 0 genome.wustl.edu 37 14 74707946 74707946 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 74707946 74707946 G A SNP VSX2 ENST00000261980 human ensembl 74_37 +1 known silent c.432 p.K144 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors VSX2 HGNC ENSG00000119614 tier1 - - 108 1 0.92 39 44 53.01 53 0 0.00 49 22 30.99 FASN 0 genome.wustl.edu 37 17 80053287 80053287 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 80053287 80053287 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.189 p.S63 1.000 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 103 0 0.00 26 69 72.63 97 0 0.00 17 50 74.63 OLFM4 0 genome.wustl.edu 37 13 53624759 53624759 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 53624759 53624759 G A SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known silent c.1386 p.G462 0.000 pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 tier1 rs199789943 - 78 0 0.00 45 19 29.69 176 0 0.00 88 41 31.54 MORN1 0 genome.wustl.edu 37 1 2267971 2267971 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 2267971 2267971 G A SNP MORN1 ENST00000378531 human ensembl 74_37 -1 known missense c.1187 p.S396F 0.002 NULL pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 tier1 - - 52 0 0.00 42 49 53.85 34 0 0.00 27 23 46.00 ENSG00000272084 0 genome.wustl.edu 37 1 19401406 19401406 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 19401406 19401406 G A SNP ENSG00000272084 ENST00000606379 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1126H10.2 Clone_based_vega_gene ENSG00000272084 tier1 - - 67 0 0.00 45 32 41.56 82 0 0.00 29 32 51.61 GPX5 0 genome.wustl.edu 37 6 28501888 28501894 + Frame_Shift_Del DEL GTCAGCT GTCAGCT - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 GTCAGCT GTCAGCT GTCAGCT - GTCAGCT GTCAGCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 28501888 28501894 GTCAGCT - DEL GPX5 ENST00000412168 human ensembl 74_37 +1 known frame_shift_del c.610_616 p.V204fs 0.233:0.458:0.424:0.434:0.390:0.010:0.000 superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - no_errors GPX5 HGNC ENSG00000224586 tier1 129 0 0.00 78 16 17.02 129 0 0.00 78 16 17.02 CRTAC1 0 genome.wustl.edu 37 10 99661285 99661285 + Frame_Shift_Del DEL T T - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 99661285 99661285 T - DEL CRTAC1 ENST00000370597 human ensembl 74_37 -1 known frame_shift_del c.1108 p.S370fs 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 tier1 95 0 0.00 25 35 58.33 62 0 0.00 22 27 55.10 KMT2B 0 genome.wustl.edu 37 19 36214019 36214019 + Frame_Shift_Del DEL C C - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 36214019 36214019 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.2845 p.R950fs 0.167 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 124 0 0.00 101 25 19.84 28 0 0.00 34 4 10.53 ACY1 0 genome.wustl.edu 37 3 52019253 52019253 + Frame_Shift_Del DEL C C - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 52019253 52019253 C - DEL ACY1 ENST00000458031 human ensembl 74_37 +1 known frame_shift_del c.395 p.R133fs 0.952 tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ENSG00000243989 tier1 51 0 0.00 39 15 27.78 57 0 0.00 31 7 18.42 FAM174A 0 genome.wustl.edu 37 5 99897866 99897868 + In_Frame_Del DEL GTT GTT - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 GTT GTT GTT - GTT GTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 99897866 99897868 GTT - DEL FAM174A ENST00000312637 human ensembl 74_37 +1 known in_frame_del c.543_545 p.L182in_frame_del 0.765:0.773:0.936 pfam_DUF1180 pfam_DUF1180 - no_errors FAM174A HGNC ENSG00000174132 tier1 138 0 0.00 46 51 52.58 137 0 0.00 49 33 40.24 SART3 0 genome.wustl.edu 37 12 108938998 108938998 + Frame_Shift_Del DEL A A - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 108938998 108938998 A - DEL SART3 ENST00000228284 human ensembl 74_37 -1 known frame_shift_del c.646 p.S216fs 0.995 smart_HAT pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 tier1 112 0 0.00 58 22 27.50 176 0 0.00 78 23 22.77 ENPP2 0 genome.wustl.edu 37 8 120598528 120598528 + Frame_Shift_Del DEL T T - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 120598528 120598528 T - DEL ENPP2 ENST00000259486 human ensembl 74_37 -1 known frame_shift_del c.1421 p.K474fs 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_D/R_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_D/R_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 tier1 119 0 0.00 128 35 21.47 173 0 0.00 128 57 30.81 PPP3CC 0 genome.wustl.edu 37 8 22370843 22370844 + Frame_Shift_Ins INS - - GTGTGACCTGC TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 - - - GTGTGACCTGC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 8 22370843 22370844 - GTGTGACCTGC INS PPP3CC ENST00000240139 human ensembl 74_37 +1 known frame_shift_ins c.668_669 p.L227fs 1.000:1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 tier1 112 0 0.00 45 6 11.76 112 0 0.00 45 6 11.76 CGNL1 0 genome.wustl.edu 37 15 57731263 57731263 + Frame_Shift_Del DEL T T - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 57731263 57731263 T - DEL CGNL1 ENST00000281282 human ensembl 74_37 +1 known frame_shift_del c.1066 p.L356fs 0.962 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 tier1 97 0 0.00 34 29 46.03 139 0 0.00 28 53 65.43 BICD2 0 genome.wustl.edu 37 9 95480170 95480170 + Frame_Shift_Del DEL T T - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 95480170 95480170 T - DEL BICD2 ENST00000356884 human ensembl 74_37 -1 known frame_shift_del c.2167 p.T723fs 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 tier1 36 0 0.00 16 19 54.29 102 0 0.00 40 33 45.21 KNG1 0 genome.wustl.edu 37 3 186450413 186450413 + Frame_Shift_Del DEL A A - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 186450413 186450413 A - DEL KNG1 ENST00000265023 human ensembl 74_37 +1 known frame_shift_del c.880 p.N294fs 0.017 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 tier1 75 0 0.00 68 20 22.73 158 0 0.00 123 47 27.65 AGK 0 genome.wustl.edu 37 7 141315323 141315323 + Frame_Shift_Del DEL G G - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 141315323 141315323 G - DEL AGK ENST00000355413 human ensembl 74_37 +1 known frame_shift_del c.476 p.S159fs 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 tier1 134 0 0.00 60 23 27.71 117 0 0.00 79 19 19.39 ADAMTSL1 0 genome.wustl.edu 37 9 18680328 18680328 + Nonsense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 18680328 18680328 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known nonsense c.1155 p.W385* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 50 0 0.00 8 10 55.56 57 0 0.00 9 5 35.71 AGBL1 0 genome.wustl.edu 37 15 86791006 86791006 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 86791006 86791006 C T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known nonsense c.493 p.R165* 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 rs199894757 - 48 0 0.00 20 10 33.33 17 0 0.00 6 4 40.00 AKAP8 0 genome.wustl.edu 37 19 15483804 15483804 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 15483804 15483804 G A SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.719 p.P240L 0.092 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 tier1 - - 77 0 0.00 15 39 72.22 18 0 0.00 3 9 75.00 APRT 0 genome.wustl.edu 37 16 88878283 88878283 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 88878283 88878283 C T SNP APRT ENST00000378364 human ensembl 74_37 -1 known missense c.25 p.V9I 1.000 NULL pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans - no_errors APRT HGNC ENSG00000198931 tier1 - - 15 0 0.00 13 19 59.38 8 0 0.00 7 10 58.82 ARHGAP36 0 genome.wustl.edu 37 X 130215689 130215689 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 130215689 130215689 G A SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known missense c.50 p.R17K 0.987 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 tier1 - - 51 0 0.00 15 34 69.39 49 0 0.00 8 25 75.76 BAHCC1 0 genome.wustl.edu 37 17 79419792 79419792 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 79419792 79419792 C T SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.4360 p.R1454W 0.998 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 tier1 - - 211 0 0.00 63 108 62.79 12 0 0.00 2 9 81.82 BMS1 0 genome.wustl.edu 37 10 43281059 43281059 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 43281059 43281059 C T SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known silent c.306 p.L102 0.428 superfamily_P-loop_NTPase pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 tier1 - - 213 0 0.00 45 72 61.54 37 0 0.00 8 14 60.87 C1orf168 0 genome.wustl.edu 37 1 57184730 57184730 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 57184730 57184730 G A SNP C1orf168 ENST00000493000 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf168 HGNC ENSG00000187889 tier1 - - 85 0 0.00 31 34 52.31 30 0 0.00 6 17 73.91 C2orf54 0 genome.wustl.edu 37 2 241835320 241835320 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 241835320 241835320 C A SNP C2orf54 ENST00000388934 human ensembl 74_37 -1 known missense c.95 p.R32L 0.003 NULL NULL - no_errors C2orf54 HGNC ENSG00000172478 tier1 - - 71 0 0.00 39 22 36.07 20 0 0.00 2 7 77.78 C9orf142 0 genome.wustl.edu 37 9 139887192 139887192 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 139887192 139887192 C T SNP C9orf142 ENST00000468484 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C9orf142 HGNC ENSG00000148362 tier1 - - 33 0 0.00 5 16 76.19 33 0 0.00 9 19 67.86 CILP2 0 genome.wustl.edu 37 19 19655601 19655601 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 19655601 19655601 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known silent c.2247 p.F749 0.619 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 tier1 - - 8 0 0.00 1 7 87.50 18 0 0.00 2 7 77.78 DDX3X 0 genome.wustl.edu 37 X 41206162 41206162 + Missense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 41206162 41206162 T A SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.1666 p.L556M 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 tier1 - - 58 0 0.00 18 40 68.97 22 0 0.00 5 11 68.75 DDX3X 0 genome.wustl.edu 37 X 41206163 41206163 + Nonsense_Mutation SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 41206163 41206163 T A SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known nonsense c.1667 p.L556* 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 tier1 - - 58 0 0.00 19 40 67.80 22 0 0.00 5 10 66.67 DFNB31 0 genome.wustl.edu 37 9 117168795 117168795 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 117168795 117168795 G A SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known silent c.2076 p.P692 0.314 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 tier1 - - 114 0 0.00 21 84 80.00 24 0 0.00 2 13 86.67 DFNB31 0 genome.wustl.edu 37 9 117168927 117168927 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 117168927 117168927 G A SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known silent c.1944 p.S648 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 tier1 - - 87 0 0.00 17 50 74.63 13 0 0.00 8 9 52.94 DMBT1 0 genome.wustl.edu 37 10 124336154 124336154 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 124336154 124336154 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.523 p.E175K 0.905 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 145 0 0.00 37 69 65.09 20 0 0.00 5 7 58.33 DRP2 0 genome.wustl.edu 37 X 100507640 100507640 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 100507640 100507640 T C SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.1912 p.F638L 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_Znf_ZZ pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 tier1 - - 31 0 0.00 9 15 62.50 57 0 0.00 5 14 73.68 ELFN1 0 genome.wustl.edu 37 7 1785520 1785520 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 1785520 1785520 G A SNP ELFN1 ENST00000424383 human ensembl 74_37 +1 known missense c.1288 p.V430M 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC ENSG00000225968 tier1 - - 37 0 0.00 19 12 38.71 26 0 0.00 6 4 40.00 ENSG00000219926 0 genome.wustl.edu 37 13 64413265 64413265 + R SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 64413265 64413265 A G SNP ENSG00000219926 ENST00000606050 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors RP11-394A14.2 Clone_based_vega_gene ENSG00000219926 tier1 - - 63 0 0.00 30 13 30.23 12 0 0.00 9 2 18.18 ENSG00000225261 0 genome.wustl.edu 37 X 148631091 148631091 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 148631091 148631091 C T SNP ENSG00000225261 ENST00000431993 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP5-937E21.8 Clone_based_vega_gene ENSG00000225261 tier1 - - 25 0 0.00 5 11 68.75 22 0 0.00 7 14 66.67 ENSG00000269352 0 genome.wustl.edu 37 19 50360227 50360227 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 50360227 50360227 C T SNP ENSG00000269352 ENST00000593654 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors AC018766.5 Clone_based_vega_gene ENSG00000269352 tier1 - - 64 0 0.00 41 16 28.07 5 0 0.00 0 4 100.00 EPN3 0 genome.wustl.edu 37 17 48618324 48618324 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 48618324 48618324 C T SNP EPN3 ENST00000537145 human ensembl 74_37 +1 known missense c.1234 p.P412S 0.466 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 tier1 - - 74 0 0.00 20 45 69.23 13 0 0.00 3 5 62.50 ESRRA 0 genome.wustl.edu 37 11 64081798 64081798 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 64081798 64081798 C T SNP ESRRA ENST00000000442 human ensembl 74_37 +1 known missense c.530 p.P177L 0.999 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRA HGNC ENSG00000173153 tier1 - - 81 0 0.00 49 8 14.04 14 0 0.00 5 2 28.57 FAM214B 0 genome.wustl.edu 37 9 35107786 35107786 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 35107786 35107786 G A SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known silent c.486 p.S162 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 tier1 - - 118 0 0.00 72 94 56.63 12 0 0.00 7 14 66.67 FAM47C 0 genome.wustl.edu 37 X 37027774 37027774 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 37027774 37027774 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1291 p.P431S 0.435 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 102 0 0.00 25 54 68.35 26 0 0.00 6 12 66.67 FBLN2 0 genome.wustl.edu 37 3 13612323 13612323 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 13612323 13612323 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known silent c.468 p.P156 0.002 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 - - 78 0 0.00 48 47 49.47 15 0 0.00 7 4 36.36 FIBCD1 0 genome.wustl.edu 37 9 133779526 133779526 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 133779526 133779526 C T SNP FIBCD1 ENST00000372338 human ensembl 74_37 -1 known nonsense c.1311 p.W437* 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FIBCD1 HGNC ENSG00000130720 tier1 - - 70 0 0.00 17 40 70.18 25 0 0.00 7 11 61.11 FRMPD2 0 genome.wustl.edu 37 10 49371643 49371643 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 49371643 49371643 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known silent c.3609 p.L1203 0.267 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 tier1 - - 73 0 0.00 18 44 70.97 62 0 0.00 9 19 67.86 GADD45A 0 genome.wustl.edu 37 1 68151423 68151423 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 68151423 68151423 G A SNP GADD45A ENST00000484245 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors GADD45A HGNC ENSG00000116717 tier1 - - 16 0 0.00 8 9 52.94 7 0 0.00 2 6 75.00 GADD45A 0 genome.wustl.edu 37 1 68151424 68151424 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 68151424 68151424 G A SNP GADD45A ENST00000484245 human ensembl 74_37 +1 putative rna NULL NULL 0.005 - - - no_errors GADD45A HGNC ENSG00000116717 tier1 - - 16 0 0.00 8 9 52.94 7 0 0.00 2 6 75.00 GAL3ST1 0 genome.wustl.edu 37 22 30951978 30951978 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 30951978 30951978 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known silent c.234 p.I78 1.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 tier1 - - 35 0 0.00 33 15 31.25 11 0 0.00 2 2 50.00 GALR1 0 genome.wustl.edu 37 18 74963119 74963119 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 74963119 74963119 C T SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known silent c.615 p.F205 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 tier1 - - 26 0 0.00 14 17 54.84 17 0 0.00 0 7 100.00 GIPC1 0 genome.wustl.edu 37 19 14593636 14593636 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 14593636 14593636 G A SNP GIPC1 ENST00000345425 human ensembl 74_37 -1 known silent c.153 p.P51 0.979 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 tier1 - - 9 0 0.00 5 10 66.67 19 0 0.00 7 8 53.33 GPR112 0 genome.wustl.edu 37 X 135430742 135430742 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 135430742 135430742 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.4877 p.S1626F 0.025 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 11 0 0.00 5 7 58.33 35 0 0.00 4 26 86.67 GPR123 0 genome.wustl.edu 37 10 134942553 134942553 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 134942553 134942553 C T SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative silent c.3378 p.F1126 0.850 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 tier1 - - 10 0 0.00 1 8 88.89 9 0 0.00 6 6 50.00 GRIK4 0 genome.wustl.edu 37 11 120702575 120702575 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 120702575 120702575 G A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.526 p.E176K 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 - - 60 0 0.00 32 30 48.39 43 0 0.00 9 12 57.14 H6PD 0 genome.wustl.edu 37 1 9324307 9324307 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 9324307 9324307 C T SNP H6PD ENST00000377403 human ensembl 74_37 +1 known silent c.1755 p.F585 1.000 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_D-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 tier1 - - 71 0 0.00 55 12 17.91 9 0 0.00 7 3 30.00 HSPB7 0 genome.wustl.edu 37 1 16344400 16344400 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 16344400 16344400 G A SNP HSPB7 ENST00000487046 human ensembl 74_37 -1 known missense c.59 p.S20F 0.317 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 tier1 - - 66 0 0.00 49 37 43.02 9 0 0.00 8 14 63.64 INTS1 0 genome.wustl.edu 37 7 1533470 1533470 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 1533470 1533470 C A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.2372 p.R791L 0.984 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 - - 88 0 0.00 45 63 58.33 14 0 0.00 7 9 56.25 KIAA1244 0 genome.wustl.edu 37 6 138612978 138612978 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 138612978 138612978 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.3156 p.L1052 0.039 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 21 0 0.00 14 10 41.67 9 0 0.00 8 2 20.00 KIAA1984-AS1 0 genome.wustl.edu 37 9 139699987 139699987 + R SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 139699987 139699987 C A SNP KIAA1984-AS1 ENST00000414656 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors KIAA1984-AS1 HGNC ENSG00000228544 tier1 - - 14 0 0.00 0 12 100.00 41 0 0.00 6 20 76.92 KRT42P 0 genome.wustl.edu 37 17 39783067 39783067 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 39783067 39783067 G A SNP KRT42P ENST00000398469 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors KRT42P HGNC ENSG00000214514 tier1 - - 96 0 0.00 27 31 53.45 15 0 0.00 2 4 66.67 LCN15 0 genome.wustl.edu 37 9 139658890 139658890 + Silent SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 139658890 139658890 C A SNP LCN15 ENST00000316144 human ensembl 74_37 -1 known silent c.51 p.T17 0.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin - no_errors LCN15 HGNC ENSG00000177984 tier1 - - 29 0 0.00 10 17 62.96 30 0 0.00 2 11 84.62 LCN15 0 genome.wustl.edu 37 9 139658892 139658892 + Frame_Shift_Del DEL T T - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 139658892 139658892 T - DEL LCN15 ENST00000316144 human ensembl 74_37 -1 known frame_shift_del c.49 p.T17fs 0.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin - no_errors LCN15 HGNC ENSG00000177984 tier1 31 0 0.00 13 15 53.57 33 0 0.00 2 11 84.62 LOC100505502 0 genome.wustl.edu 37 10 31651797 31651797 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 31651797 31651797 C T SNP LOC100505502 ENST00000359888 human ensembl 74_37 -1 known rna NULL NULL 0.093 - - - no_errors RP11-192P3.5 Clone_based_vega_gene ENSG00000196960 tier1 - - 104 0 0.00 74 32 30.19 7 0 0.00 7 4 36.36 LOC100505851 0 genome.wustl.edu 37 19 24102982 24102982 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 24102982 24102982 G A SNP LOC100505851 ENST00000596326 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CTB-92J24.3 Clone_based_vega_gene ENSG00000269289 tier1 - - 42 0 0.00 8 16 66.67 66 0 0.00 9 27 75.00 LOC440157 0 genome.wustl.edu 37 14 19685454 19685454 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 19685454 19685454 C T SNP LOC440157 ENST00000418499 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 tier1 - - 106 0 0.00 40 12 23.08 11 0 0.00 9 2 18.18 MAGEC1 0 genome.wustl.edu 37 X 140994314 140994314 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 140994314 140994314 T C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1124 p.I375T 0.004 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 129 0 0.00 44 83 65.35 40 0 0.00 4 22 84.62 MAP2K7 0 genome.wustl.edu 37 19 7975656 7975656 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 7975656 7975656 C T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.769 p.P257S 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 tier1 - - 55 0 0.00 8 44 84.62 19 0 0.00 8 29 78.38 MAP2K7 0 genome.wustl.edu 37 19 7975657 7975657 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 7975657 7975657 C T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.770 p.P257L 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 tier1 - - 55 0 0.00 7 46 86.79 19 0 0.00 9 29 76.32 MIR452 0 genome.wustl.edu 37 X 151128158 151128158 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 151128158 151128158 C T SNP MIR452 ENST00000385020 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR452 HGNC ENSG00000207753 tier1 - - 43 0 0.00 5 32 86.49 11 0 0.00 5 11 68.75 MXRA5 0 genome.wustl.edu 37 X 3241341 3241341 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 3241341 3241341 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.2385 p.L795 0.779 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 35 0 0.00 9 20 68.97 29 0 0.00 3 29 90.62 MYOCD 0 genome.wustl.edu 37 17 12656030 12656030 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 12656030 12656030 C T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.1425 p.F475 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 20 0 0.00 11 10 47.62 39 0 0.00 9 18 66.67 NDUFA13 0 genome.wustl.edu 37 19 19627015 19627015 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 19627015 19627015 C T SNP NDUFA13 ENST00000252576 human ensembl 74_37 +1 known missense c.217 p.R73C 0.999 NULL pfam_GRIM-19 - no_errors NDUFA13 HGNC ENSG00000186010 tier1 rs147346438 - 128 0 0.00 28 61 68.54 45 0 0.00 7 31 81.58 NFKBIL1 0 genome.wustl.edu 37 6 31526089 31526089 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 31526089 31526089 G A SNP NFKBIL1 ENST00000376148 human ensembl 74_37 +1 known missense c.847 p.E283K 0.460 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 tier1 rs201985780 - 89 0 0.00 44 24 35.29 10 0 0.00 5 5 50.00 NLGN4X 0 genome.wustl.edu 37 X 5810947 5810947 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 5810947 5810947 C T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.2422 p.G808R 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 60 0 0.00 15 49 76.56 30 0 0.00 9 20 68.97 NRAP 0 genome.wustl.edu 37 10 115364512 115364512 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 115364512 115364512 C T SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.4107 p.M1369I 0.981 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 tier1 - - 37 0 0.00 4 24 85.71 26 0 0.00 3 14 82.35 NTRK1 0 genome.wustl.edu 37 1 156846306 156846306 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 156846306 156846306 C T SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.1747 p.R583C 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 51 0 0.00 28 20 41.67 27 0 0.00 5 16 76.19 OPN4 0 genome.wustl.edu 37 10 88419679 88419679 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 88419679 88419679 G A SNP OPN4 ENST00000372071 human ensembl 74_37 +1 known silent c.861 p.K287 0.218 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 tier1 - - 80 0 0.00 21 24 53.33 27 0 0.00 8 12 60.00 OPN4 0 genome.wustl.edu 37 10 88419685 88419685 + Silent SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 88419685 88419685 T C SNP OPN4 ENST00000372071 human ensembl 74_37 +1 known silent c.867 p.N289 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 tier1 - - 79 0 0.00 20 26 56.52 27 0 0.00 8 11 57.89 OR4A15 0 genome.wustl.edu 37 11 55135651 55135651 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 55135651 55135651 G A SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.292 p.D98N 0.005 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 OR4A15 HGNC ENSG00000181958 tier1 - - 86 0 0.00 32 32 50.00 30 0 0.00 7 8 53.33 PCDHB11 0 genome.wustl.edu 37 5 140580852 140580852 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 140580852 140580852 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.1505 p.S502F 0.943 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 251 0 0.00 52 69 57.02 9 0 0.00 4 2 33.33 PCNXL2 0 genome.wustl.edu 37 1 233134090 233134090 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 233134090 233134090 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.5698 p.P1900S 0.005 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 30 0 0.00 21 10 32.26 23 0 0.00 8 6 42.86 POLR1D 0 genome.wustl.edu 37 13 28196110 28196110 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 28196110 28196110 C T SNP POLR1D ENST00000465887 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR1D HGNC ENSG00000186184 tier1 - - 93 0 0.00 46 18 28.12 26 0 0.00 7 5 41.67 POTED 0 genome.wustl.edu 37 21 14983026 14983026 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 14983026 14983026 C T SNP POTED ENST00000299443 human ensembl 74_37 +1 known silent c.477 p.V159 0.001 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTED HGNC ENSG00000166351 tier1 - - 101 0 0.00 43 107 71.33 13 0 0.00 4 14 73.68 PPP1R12B 0 genome.wustl.edu 37 1 202462333 202462333 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 202462333 202462333 C T SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.2033 p.P678L 0.957 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 tier1 - - 176 0 0.00 71 70 49.65 10 0 0.00 4 3 42.86 RASGRF1 0 genome.wustl.edu 37 15 79341923 79341923 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 79341923 79341923 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.539 p.S180F 0.083 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 10 0 0.00 10 8 44.44 49 0 0.00 6 12 63.16 RASIP1 0 genome.wustl.edu 37 19 49225154 49225154 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 49225154 49225154 G A SNP RASIP1 ENST00000222145 human ensembl 74_37 -1 known silent c.2649 p.A883 0.003 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 tier1 - - 43 0 0.00 24 11 31.43 5 0 0.00 4 3 42.86 RGP1 0 genome.wustl.edu 37 9 35749252 35749252 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 35749252 35749252 G A SNP RGP1 ENST00000456972 human ensembl 74_37 +1 known missense c.50 p.R17K 0.994 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 tier1 - - 73 0 0.00 30 55 64.71 11 0 0.00 2 3 60.00 SLC17A9 0 genome.wustl.edu 37 20 61598170 61598170 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 61598170 61598170 C T SNP SLC17A9 ENST00000488738 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC17A9 HGNC ENSG00000101194 tier1 - - 55 0 0.00 38 16 29.63 13 0 0.00 4 2 33.33 SLC22A31 0 genome.wustl.edu 37 16 89262552 89262552 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 89262552 89262552 C T SNP SLC22A31 ENST00000562855 human ensembl 74_37 -1 novel missense c.1526 p.R509Q 0.160 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A31 HGNC ENSG00000259803 tier1 - - 35 0 0.00 26 9 25.71 19 0 0.00 5 6 54.55 SLC39A13 0 genome.wustl.edu 37 11 47436601 47436601 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 47436601 47436601 C T SNP SLC39A13 ENST00000362021 human ensembl 74_37 +1 known missense c.931 p.P311S 0.018 pfam_ZIP pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 tier1 - - 35 0 0.00 5 17 77.27 31 0 0.00 9 10 52.63 SLC4A9 0 genome.wustl.edu 37 5 139743761 139743761 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 139743761 139743761 C T SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known silent c.1449 p.F483 0.999 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 tier1 - - 61 0 0.00 27 9 25.00 40 0 0.00 9 11 55.00 SPANXD 0 genome.wustl.edu 37 X 140785772 140785772 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 140785772 140785772 C T SNP SPANXD ENST00000370515 human ensembl 74_37 -1 known silent c.144 p.S48 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXD HGNC ENSG00000196406 tier1 rs142384328 - 204 0 0.00 57 97 62.99 29 0 0.00 9 26 74.29 SPATA31C1 0 genome.wustl.edu 37 9 90535838 90535838 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 90535838 90535838 C T SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors SPATA31C1 HGNC ENSG00000230246 tier1 - - 250 0 0.00 61 89 59.33 27 0 0.00 5 12 70.59 SPATC1L 0 genome.wustl.edu 37 21 47588471 47588471 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 21 47588471 47588471 C T SNP SPATC1L ENST00000291672 human ensembl 74_37 -1 known missense c.295 p.E99K 0.937 NULL NULL - no_errors SPATC1L HGNC ENSG00000160284 tier1 - - 32 0 0.00 35 11 23.91 17 0 0.00 5 2 28.57 SPHK2 0 genome.wustl.edu 37 19 49129294 49129294 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 49129294 49129294 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known silent c.372 p.G124 0.048 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 tier1 - - 42 0 0.00 29 15 34.09 20 0 0.00 7 3 30.00 STRA13 0 genome.wustl.edu 37 17 79980696 79980696 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 79980696 79980696 C T SNP STRA13 ENST00000577379 human ensembl 74_37 -1 known rna NULL NULL 0.457 - - - no_errors STRA13 HGNC ENSG00000169689 tier1 - - 19 0 0.00 5 9 64.29 10 0 0.00 1 4 80.00 SURF6 0 genome.wustl.edu 37 9 136198702 136198702 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 136198702 136198702 G A SNP SURF6 ENST00000468290 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SURF6 HGNC ENSG00000148296 tier1 - - 33 0 0.00 8 18 69.23 20 0 0.00 1 7 87.50 TAS1R3 0 genome.wustl.edu 37 1 1266876 1266876 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 1266876 1266876 C T SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.151 p.L51F 0.001 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 tier1 - - 66 0 0.00 32 39 54.93 6 0 0.00 4 3 42.86 TBRG1 0 genome.wustl.edu 37 11 124495738 124495738 + Missense_Mutation SNP A A T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 124495738 124495738 A T SNP TBRG1 ENST00000375005 human ensembl 74_37 +1 known missense c.77 p.H26L 0.996 NULL pfam_FYrich_C,pfam_FYrich_N,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 tier1 - - 47 0 0.00 29 21 42.00 21 0 0.00 1 7 87.50 TPSB2 0 genome.wustl.edu 37 16 1279234 1279234 + Splice_Site SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 1279234 1279234 C T SNP TPSB2 ENST00000430512 human ensembl 74_37 -1 known splice_site c.454-1 e4-1 0.005 - - - no_errors TPSB2 HGNC ENSG00000197253 tier1 - - 22 0 0.00 4 16 80.00 18 0 0.00 8 12 60.00 TRERF1 0 genome.wustl.edu 37 6 42231058 42231058 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 42231058 42231058 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known silent c.1884 p.L628 0.999 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 tier1 - - 59 0 0.00 34 21 38.18 12 0 0.00 9 4 30.77 TRPM5 0 genome.wustl.edu 37 11 2442422 2442422 + Nonsense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 2442422 2442422 C T SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known nonsense c.305 p.W102* 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 tier1 - - 65 0 0.00 35 53 60.23 22 0 0.00 7 5 41.67 UNC5A 0 genome.wustl.edu 37 5 176301357 176301357 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 176301357 176301357 C T SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known missense c.1168 p.P390S 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 tier1 - - 77 0 0.00 23 21 47.73 46 0 0.00 3 14 82.35 URB2 0 genome.wustl.edu 37 1 229771837 229771837 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 229771837 229771837 G A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.1477 p.G493S 0.860 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 tier1 - - 44 0 0.00 19 7 26.92 19 0 0.00 6 8 57.14 ZBTB45 0 genome.wustl.edu 37 19 59025634 59025634 + Silent SNP A A C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 59025634 59025634 A C SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known silent c.1323 p.S441 0.989 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 ZBTB45 HGNC ENSG00000119574 tier1 - - 49 0 0.00 41 30 42.25 7 0 0.00 6 6 50.00 ZMIZ1 0 genome.wustl.edu 37 10 81070908 81070908 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 81070908 81070908 G A SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known silent c.3063 p.Q1021 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 tier1 - - 74 0 0.00 19 21 52.50 20 0 0.00 7 4 36.36 ZNF630 0 genome.wustl.edu 37 X 47918037 47918037 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 47918037 47918037 G A SNP ZNF630 ENST00000409324 human ensembl 74_37 -1 known silent c.1794 p.T598 0.011 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 ZNF630 HGNC ENSG00000221994 tier1 - - 15 0 0.00 11 10 47.62 50 0 0.00 6 23 79.31 ZNF730 0 genome.wustl.edu 37 19 23328960 23328960 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 23328960 23328960 G A SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1114 p.E372K 0.063 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 ZNF730 HGNC ENSG00000183850 tier1 - - 50 0 0.00 18 19 51.35 12 0 0.00 3 11 78.57 ZNF787 0 genome.wustl.edu 37 19 56600179 56600179 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 56600179 56600179 G A SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known missense c.362 p.P121L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 tier1 - - 46 0 0.00 46 10 17.54 5 0 0.00 5 2 28.57 YAE1D1 0 genome.wustl.edu 37 7 39612146 39612146 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 39612146 39612146 C T SNP YAE1D1 ENST00000223273 human ensembl 74_37 +1 known silent c.522 p.S174 0.000 NULL pfam_Essential_protein_Yae1_N - no_errors YAE1D1 HGNC ENSG00000241127 tier1 - - 140 0 0.00 103 19 15.45 103 0 0.00 88 8 8.33 SIT1 0 genome.wustl.edu 37 9 35650022 35650022 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 35650022 35650022 C T SNP SIT1 ENST00000259608 human ensembl 74_37 -1 known silent c.414 p.R138 0.004 NULL NULL - no_errors SIT1 HGNC ENSG00000137078 tier1 - - 177 0 0.00 180 51 22.08 43 0 0.00 52 4 7.14 GRIA4 0 genome.wustl.edu 37 11 105850916 105850916 + R SNP G G C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 105850916 105850916 G C SNP GRIA4 ENST00000533094 human ensembl 74_37 +1 putative rna NULL NULL 0.955 - - - no_errors GRIA4 HGNC ENSG00000152578 tier1 - - 139 0 0.00 88 11 11.11 148 0 0.00 94 9 8.65 MUC6 0 genome.wustl.edu 37 11 1028893 1028893 + Missense_Mutation SNP C C G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 1028893 1028893 C G SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.1449 p.K483N 0.005 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 58 0 0.00 36 5 12.20 93 0 0.00 51 5 8.93 C1orf162 0 genome.wustl.edu 37 1 112020834 112020834 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 112020834 112020834 C T SNP C1orf162 ENST00000464591 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C1orf162 HGNC ENSG00000143110 tier1 - - 15 0 0.00 20 10 33.33 87 0 0.00 103 7 6.31 PLX4 0 genome.wustl.edu 37 7 131825507 131825507 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 131825507 131825507 C T SNP PLX4 ENST00000321063 human ensembl 74_37 -1 known silent c.5289 p.K1763 1.000 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 PLX4 HGNC ENSG00000221866 tier1 - - 78 0 0.00 28 16 36.36 66 0 0.00 46 4 8.00 OR8D1 0 genome.wustl.edu 37 11 124179743 124179743 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 124179743 124179743 C T SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.920 p.G307E 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 tier1 - - 72 0 0.00 43 15 25.42 213 0 0.00 110 9 7.56 CAD 0 genome.wustl.edu 37 7 45122646 45122646 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 45122646 45122646 G A SNP CAD ENST00000490531 human ensembl 74_37 -1 known missense c.3133 p.L1045F 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors CAD HGNC ENSG00000136274 tier1 - - 36 0 0.00 21 10 32.26 48 0 0.00 51 5 8.93 BBOX1 0 genome.wustl.edu 37 11 27114883 27114883 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 27114883 27114883 G A SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known missense c.503 p.R168K 1.000 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 tier1 - - 74 0 0.00 60 6 9.09 142 0 0.00 107 7 6.09 GRIK4 0 genome.wustl.edu 37 11 120776105 120776105 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 120776105 120776105 G T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.1379 p.R460L 0.358 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 - - 73 0 0.00 39 6 13.33 92 0 0.00 79 6 6.98 TNIK 0 genome.wustl.edu 37 3 170786725 170786725 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 170786725 170786725 C A SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.3611 p.R1204I 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 tier1 - - 87 0 0.00 102 21 17.07 126 0 0.00 101 10 9.01 PRLR 0 genome.wustl.edu 37 5 35068970 35068970 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 35068970 35068970 C T SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.696 p.M232I 0.716 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 60 0 0.00 65 15 18.75 96 0 0.00 73 7 8.75 CEP250 0 genome.wustl.edu 37 20 34092368 34092368 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 34092368 34092368 G A SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known silent c.6171 p.R2057 0.326 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 - - 49 0 0.00 55 7 11.29 66 0 0.00 69 6 8.00 PRKRA 0 genome.wustl.edu 37 2 179315108 179315108 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179315108 179315108 C T SNP PRKRA ENST00000325748 human ensembl 74_37 -1 known silent c.96 p.G32 1.000 NULL pfam_dsR-bd_dom,smart_dsR-bd_dom,pfscan_dsR-bd_dom - no_errors PRKRA HGNC ENSG00000180228 tier1 - - 123 0 0.00 91 10 9.90 185 0 0.00 98 7 6.60 ZRANB3 0 genome.wustl.edu 37 2 136029338 136029338 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 136029338 136029338 C T SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known silent c.1206 p.Q402 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 tier1 - - 72 0 0.00 49 13 20.97 86 0 0.00 48 5 9.43 TTN 0 genome.wustl.edu 37 2 179584349 179584349 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 179584349 179584349 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20138 p.G6713E 1.000 pfam_Ig_I-set,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 - - 44 0 0.00 42 8 16.00 159 0 0.00 84 9 9.68 CCDC15 0 genome.wustl.edu 37 11 124857872 124857872 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 124857872 124857872 G A SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.1750 p.D584N 0.619 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 tier1 - - 132 0 0.00 119 18 13.04 166 0 0.00 103 11 9.65 BBOX1 0 genome.wustl.edu 37 11 27114884 27114884 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 27114884 27114884 G A SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known silent c.504 p.R168 0.996 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 tier1 - - 74 0 0.00 60 6 9.09 140 1 0.71 108 7 6.09 BNIP3P1 0 genome.wustl.edu 37 14 28734133 28734142 + R DEL AAATATTCCC AAATATTCCC - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 AAATATTCCC AAATATTCCC AAATATTCCC - AAATATTCCC AAATATTCCC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 28734133 28734142 AAATATTCCC - DEL BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:0.996:0.755:0.753:0.760:0.767:0.837:0.816:0.774 - - - no_errors BNIP3P1 HGNC ENSG00000197358 tier1 140 0 0.00 98 5 4.85 140 0 0.00 98 5 4.85 SCN7A 0 genome.wustl.edu 37 2 167301398 167301398 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 167301398 167301398 C T SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known silent c.1500 p.R500 0.002 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 112 0 0.00 66 24 26.67 126 2 1.56 104 22 17.46 KIAA0930 0 genome.wustl.edu 37 22 45622165 45622165 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 45622165 45622165 G A SNP KIAA0930 ENST00000417906 human ensembl 74_37 -1 known missense c.164 p.S55F 0.040 NULL NULL - no_errors KIAA0930 HGNC ENSG00000100364 tier1 - - 46 0 0.00 18 15 45.45 173 2 1.14 96 40 29.41 EI24 0 genome.wustl.edu 37 11 125453792 125453792 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 125453792 125453792 G A SNP EI24 ENST00000527628 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors EI24 HGNC ENSG00000149547 tier1 - - 19 0 0.00 6 6 50.00 41 1 2.38 12 26 68.42 MAGEC1 0 genome.wustl.edu 37 X 140993291 140993291 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 140993291 140993291 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.101 p.P34L 0.998 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 26 0 0.00 5 22 81.48 17 1 5.56 4 14 77.78 LOC101929232 0 genome.wustl.edu 37 15 29035383 29035383 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 29035383 29035383 C T SNP LOC101929232 ENST00000565892 human ensembl 74_37 +1 putative rna NULL NULL 0.895 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 tier1 - - 49 0 0.00 11 4 26.67 37 1 2.63 10 10 47.62 MAGEC3 0 genome.wustl.edu 37 X 140967031 140967031 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 140967031 140967031 G A SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.329 p.G110E 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 54 0 0.00 12 31 72.09 20 1 4.76 2 17 89.47 TENM1 0 genome.wustl.edu 37 X 123526042 123526042 + Missense_Mutation SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 123526042 123526042 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5548 p.I1850V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 36 0 0.00 22 24 52.17 25 1 3.85 24 9 26.47 ADIPOR1 0 genome.wustl.edu 37 1 202912941 202912941 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 202912941 202912941 G A SNP ADIPOR1 ENST00000367254 human ensembl 74_37 -1 known missense c.481 p.H161Y 1.000 NULL NULL - no_errors ADIPOR1 HGNC ENSG00000159346 tier1 - - 52 0 0.00 40 25 38.46 15 0 0.00 8 1 11.11 CELSR2 0 genome.wustl.edu 37 1 109801544 109801544 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 109801544 109801544 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.3801 p.H1267 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,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 CELSR2 HGNC ENSG00000143126 tier1 - - 32 0 0.00 23 24 51.06 5 0 0.00 1 1 50.00 CELSR2 0 genome.wustl.edu 37 1 109801545 109801545 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 109801545 109801545 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3802 p.P1268S 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,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 CELSR2 HGNC ENSG00000143126 tier1 - - 32 0 0.00 23 23 50.00 5 0 0.00 1 1 50.00 CYB5R4 0 genome.wustl.edu 37 6 84569507 84569507 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 84569507 84569507 G A SNP CYB5R4 ENST00000369681 human ensembl 74_37 +1 known silent c.6 p.L2 1.000 NULL pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/D-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_DH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5R4 HGNC ENSG00000065615 tier1 - - 205 0 0.00 138 36 20.69 14 0 0.00 4 0 0.00 CYP2W1 0 genome.wustl.edu 37 7 1024181 1024181 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 1024181 1024181 C T SNP CYP2W1 ENST00000308919 human ensembl 74_37 +1 known missense c.308 p.A103V 0.428 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,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 tier1 - - 23 0 0.00 12 4 25.00 14 0 0.00 5 0 0.00 GALNT9 0 genome.wustl.edu 37 12 132905601 132905601 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 132905601 132905601 G A SNP GALNT9 ENST00000328957 human ensembl 74_37 -1 known silent c.189 p.I63 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 tier1 - - 97 0 0.00 43 27 38.57 13 0 0.00 3 0 0.00 GOLGA6L2 0 genome.wustl.edu 37 15 23686589 23686589 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 23686589 23686589 C T SNP GOLGA6L2 ENST00000312015 human ensembl 74_37 -1 known missense c.1033 p.E345K 0.010 prints_Tropomyosin prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 - - 54 0 0.00 32 23 41.82 11 0 0.00 7 1 12.50 ITGA2B 0 genome.wustl.edu 37 17 42457510 42457510 + Nonsense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 42457510 42457510 C A SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known nonsense c.1612 p.E538* 0.997 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 tier1 - - 33 0 0.00 34 4 10.53 6 0 0.00 7 0 0.00 IVL 0 genome.wustl.edu 37 1 152883368 152883368 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 152883368 152883368 C T SNP IVL ENST00000368764 human ensembl 74_37 +1 known silent c.1095 p.L365 0.000 NULL pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 72 0 0.00 33 9 21.43 9 0 0.00 0 0 0.00 LOC101930008 0 genome.wustl.edu 37 16 16415150 16415150 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 16415150 16415150 G A SNP LOC101930008 ENST00000536260 human ensembl 74_37 +1 known rna NULL NULL 0.271 - - - no_errors AC138969.4 Clone_based_vega_gene ENSG00000183889 tier1 - - 327 0 0.00 263 48 15.43 7 0 0.00 7 0 0.00 LTBP4 0 genome.wustl.edu 37 19 41128389 41128389 + Missense_Mutation SNP C C A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 41128389 41128389 C A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.3499 p.P1167T 0.934 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 tier1 - - 33 0 0.00 20 9 31.03 6 0 0.00 4 1 20.00 MUC5B 0 genome.wustl.edu 37 11 1263008 1263008 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 1263008 1263008 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.4907 p.P1636L 0.004 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 36 0 0.00 18 5 21.74 7 0 0.00 3 0 0.00 PRELID1P1 0 genome.wustl.edu 37 6 126964996 126964996 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 6 126964996 126964996 C T SNP PRELID1P1 ENST00000567272 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRELID1P1 HGNC ENSG00000217325 tier1 - - 78 0 0.00 52 17 24.64 13 0 0.00 6 0 0.00 SPTBN4 0 genome.wustl.edu 37 19 41019298 41019298 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 41019298 41019298 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.2602 p.E868K 0.999 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 38 0 0.00 20 12 37.50 20 0 0.00 3 0 0.00 SRCRB4D 0 genome.wustl.edu 37 7 76029867 76029867 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 76029867 76029867 G A SNP SRCRB4D ENST00000275560 human ensembl 74_37 -1 known silent c.211 p.L71 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SRCRB4D HGNC ENSG00000146700 tier1 - - 43 0 0.00 35 14 28.57 8 0 0.00 3 0 0.00 SRCRB4D 0 genome.wustl.edu 37 7 76029868 76029868 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 7 76029868 76029868 G A SNP SRCRB4D ENST00000275560 human ensembl 74_37 -1 known silent c.210 p.R70 0.984 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SRCRB4D HGNC ENSG00000146700 tier1 - - 39 0 0.00 34 14 29.17 8 0 0.00 3 0 0.00 STARD13 0 genome.wustl.edu 37 13 33704189 33704189 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 33704189 33704189 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.625 p.R209C 0.777 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 30 0 0.00 11 11 50.00 11 0 0.00 3 1 25.00 ADAMTS7 0 genome.wustl.edu 37 15 79058437 79058437 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 79058437 79058437 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.3816 p.L1272 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 tier1 - - 246 0 0.00 113 53 31.93 1 0 0.00 1 0 0.00 ANKRD18A 0 genome.wustl.edu 37 9 38577922 38577922 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 38577922 38577922 G A SNP ANKRD18A ENST00000399703 human ensembl 74_37 -1 known missense c.2471 p.S824L 0.044 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18A HGNC ENSG00000180071 tier1 - - 202 0 0.00 86 44 33.85 4 0 0.00 0 1 100.00 ARHGAP28 0 genome.wustl.edu 37 18 6729895 6729895 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 6729895 6729895 C T SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known silent c.75 p.A25 0.008 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 27 0 0.00 8 5 38.46 3 0 0.00 1 1 50.00 CBFA2T3 0 genome.wustl.edu 37 16 88967953 88967953 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 88967953 88967953 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.263 p.S88F 0.998 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 tier1 - - 52 0 0.00 38 15 28.30 1 0 0.00 0 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102304934 102304936 + R DEL TCT TCT - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 102304934 102304936 TCT - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 45 0 0.00 27 3 10.00 2 0 0.00 1 0 0.00 EH 0 genome.wustl.edu 37 1 225702465 225702465 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 225702465 225702465 G A SNP EH ENST00000366844 human ensembl 74_37 -1 known missense c.1051 p.P351S 0.959 NULL pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors EH HGNC ENSG00000154380 tier1 - - 16 0 0.00 6 6 50.00 0 0 0.00 0 0 0.00 ENSG00000227175 0 genome.wustl.edu 37 10 13570599 13570599 + R DEL A A - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 10 13570599 13570599 A - DEL ENSG00000227175 ENST00000438431 human ensembl 74_37 +1 known rna NULL NULL 0.663 - - - no_errors RP11-214D15.2 Clone_based_vega_gene ENSG00000227175 tier1 8 0 0.00 3 5 62.50 1 0 0.00 1 1 50.00 ENSG00000228980 0 genome.wustl.edu 37 3 109136640 109136640 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 109136640 109136640 C T SNP ENSG00000228980 ENST00000489670 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-702L6.4 Clone_based_vega_gene ENSG00000228980 tier1 - - 48 0 0.00 32 23 41.82 0 0 0.00 0 0 0.00 ENSG00000231171 0 genome.wustl.edu 37 4 178887828 178887828 + Splice_Site SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 4 178887828 178887828 G A SNP ENSG00000231171 ENST00000507870 human ensembl 74_37 +1 putative splice_site c.57-1 e2-1 0.004 - - - no_errors RP11-389E17.1 Clone_based_vega_gene ENSG00000231171 tier1 - - 75 0 0.00 25 33 56.90 0 0 0.00 0 0 0.00 ENSG00000231512 0 genome.wustl.edu 37 1 243202738 243202738 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 243202738 243202738 C T SNP ENSG00000231512 ENST00000420830 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-261C10.2 Clone_based_vega_gene ENSG00000231512 tier1 - - 122 0 0.00 55 19 25.68 0 0 0.00 0 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143194212 143194212 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 143194212 143194212 C T SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 62 0 0.00 26 15 36.59 0 0 0.00 0 0 0.00 ENSG00000261720 0 genome.wustl.edu 37 16 1116292 1116292 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 1116292 1116292 C T SNP ENSG00000261720 ENST00000564390 human ensembl 74_37 +1 known rna NULL NULL 0.349 - - - no_errors RP11-161M6.5 Clone_based_vega_gene ENSG00000261720 tier1 - - 30 0 0.00 27 12 30.77 4 0 0.00 5 1 16.67 FAM230A 0 genome.wustl.edu 37 22 20710837 20710837 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 22 20710837 20710837 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.2569 p.P857S 0.000 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 272 0 0.00 161 65 28.76 1 0 0.00 0 0 0.00 FBLL1 0 genome.wustl.edu 37 5 167956784 167956784 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 5 167956784 167956784 G A SNP FBLL1 ENST00000338333 human ensembl 74_37 +1 putative missense c.275 p.R92K 0.034 pirsf_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBLL1 HGNC ENSG00000188573 tier1 - - 16 0 0.00 7 7 50.00 2 0 0.00 0 0 0.00 FOXA1 0 genome.wustl.edu 37 14 38061514 38061514 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 38061514 38061514 C T SNP FOXA1 ENST00000250448 human ensembl 74_37 -1 known missense c.475 p.A159T 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 tier1 - - 51 0 0.00 34 4 10.26 2 0 0.00 3 0 0.00 GOLGA6L4 0 genome.wustl.edu 37 15 84908564 84908564 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 84908564 84908564 C T SNP GOLGA6L4 ENST00000510439 human ensembl 74_37 +1 novel missense c.458 p.P153L 0.007 NULL NULL - no_errors GOLGA6L4 HGNC ENSG00000184206 tier1 - - 63 0 0.00 60 11 15.49 1 0 0.00 1 0 0.00 HERC2P2 0 genome.wustl.edu 37 15 23326283 23326283 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 23326283 23326283 C T SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 tier1 - - 174 0 0.00 73 68 48.23 0 0 0.00 1 0 0.00 IRX5 0 genome.wustl.edu 37 16 54965327 54965329 + In_Frame_Del DEL GCC GCC - TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 54965327 54965329 GCC - DEL IRX5 ENST00000394636 human ensembl 74_37 +1 known in_frame_del c.217_219 p.A76in_frame_del 1.000:1.000:0.492 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 tier1 24 0 0.00 16 3 15.79 2 0 0.00 0 0 0.00 KRT85 0 genome.wustl.edu 37 12 52758847 52758847 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 12 52758847 52758847 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.528 p.I176 0.453 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 rs180717956 GMAF=0.0005 80 0 0.00 34 14 29.17 1 0 0.00 0 0 0.00 KRTAP5-5 0 genome.wustl.edu 37 11 1651391 1651391 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 1651391 1651391 G A SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known silent c.321 p.G107 0.753 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 - - 48 0 0.00 22 19 46.34 1 0 0.00 1 0 0.00 LOC440157 0 genome.wustl.edu 37 14 19686458 19686458 + R SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 19686458 19686458 C T SNP LOC440157 ENST00000418499 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 tier1 - - 57 0 0.00 25 10 28.57 2 0 0.00 2 0 0.00 LRRC56 0 genome.wustl.edu 37 11 554066 554066 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 554066 554066 G T SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known missense c.1419 p.Q473H 0.000 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 tier1 - - 39 0 0.00 24 4 14.29 2 0 0.00 0 0 0.00 LTBP3 0 genome.wustl.edu 37 11 65325325 65325326 + In_Frame_Ins INS - - CAGCAG TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 65325325 65325326 - CAGCAG INS LTBP3 ENST00000301873 human ensembl 74_37 -1 known in_frame_ins c.106_105 p.35in_frame_insLL 1.000:0.996 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 MAGEL2 0 genome.wustl.edu 37 15 23890900 23890900 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 15 23890900 23890900 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.181 p.P61S 0.935 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 43 0 0.00 23 7 23.33 3 0 0.00 1 0 0.00 MIR3689B 0 genome.wustl.edu 37 9 137742018 137742018 + R SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 9 137742018 137742018 A G SNP MIR3689B ENST00000581772 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3689B HGNC ENSG00000264163 tier1 rs79438120 - 44 0 0.00 26 5 16.13 0 0 0.00 0 1 100.00 MIR523 0 genome.wustl.edu 37 19 54201659 54201659 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 54201659 54201659 G A SNP MIR523 ENST00000385281 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors MIR523 HGNC ENSG00000208016 tier1 - - 100 0 0.00 55 46 45.54 1 0 0.00 4 1 20.00 NPIPA7 0 genome.wustl.edu 37 16 16481310 16481310 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 16 16481310 16481310 G A SNP NPIPA7 ENST00000530217 human ensembl 74_37 +1 novel missense c.247 p.D83N 0.209 NULL NULL - no_errors NPIPA7 HGNC ENSG00000214967 tier1 - - 24 0 0.00 13 10 43.48 0 0 0.00 0 0 0.00 POTEE 0 genome.wustl.edu 37 2 132021747 132021747 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 132021747 132021747 G A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.2719 p.E907K 1.000 pfam_Actin-related,smart_Actin-related 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 POTEE HGNC ENSG00000188219 tier1 - - 134 0 0.00 57 34 37.36 1 0 0.00 1 0 0.00 POTEJ 0 genome.wustl.edu 37 2 131390210 131390210 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 131390210 131390210 G A SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.1279 p.E427K 0.001 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 POTEJ HGNC ENSG00000222038 tier1 - - 45 0 0.00 19 17 47.22 1 0 0.00 2 0 0.00 PRAMEF11 0 genome.wustl.edu 37 1 12887197 12887197 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 12887197 12887197 G A SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known silent c.660 p.F220 0.001 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 tier1 - - 250 0 0.00 212 40 15.87 1 0 0.00 0 0 0.00 PRSS42 0 genome.wustl.edu 37 3 46875510 46875510 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 46875510 46875510 C T SNP PRSS42 ENST00000429665 human ensembl 74_37 -1 known missense c.76 p.A26T 0.005 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS42 HGNC ENSG00000178055 tier1 - - 117 0 0.00 94 59 38.56 4 0 0.00 0 0 0.00 PTMAP5 0 genome.wustl.edu 37 13 82265085 82265085 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 13 82265085 82265085 G A SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTMAP5 HGNC ENSG00000214182 tier1 - - 243 0 0.00 103 40 27.97 0 0 0.00 0 0 0.00 PXDN 0 genome.wustl.edu 37 2 1652740 1652740 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 1652740 1652740 G T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2812 p.Q938K 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 13 0 0.00 11 4 26.67 0 0 0.00 0 1 100.00 RANBP2 0 genome.wustl.edu 37 2 109383182 109383182 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 109383182 109383182 C T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.6187 p.L2063F 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 345 0 0.00 184 119 39.14 1 0 0.00 1 0 0.00 RANBP2 0 genome.wustl.edu 37 2 109384259 109384259 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 109384259 109384259 C T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.7264 p.R2422C 0.977 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 462 0 0.00 316 44 12.19 0 0 0.00 0 0 0.00 RGPD3 0 genome.wustl.edu 37 2 107041069 107041069 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 107041069 107041069 C T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.3354 p.M1118I 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 241 0 0.00 133 109 45.04 0 0 0.00 0 0 0.00 SSX1 0 genome.wustl.edu 37 X 48117237 48117237 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b X 48117237 48117237 C T SNP SSX1 ENST00000376919 human ensembl 74_37 +1 known silent c.126 p.Y42 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX1 HGNC ENSG00000126752 tier1 - - 164 0 0.00 37 122 76.73 0 0 0.00 0 0 0.00 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58085813 58085813 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 58085813 58085813 G A SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.172 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 tier1 - - 167 0 0.00 43 69 61.61 0 0 0.00 0 0 0.00 TMCC2 0 genome.wustl.edu 37 1 205211030 205211030 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 205211030 205211030 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.605 p.P202L 1.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SRE - no_errors TMCC2 HGNC ENSG00000133069 tier1 - - 14 0 0.00 7 5 41.67 3 0 0.00 1 1 50.00 ZNF676 0 genome.wustl.edu 37 19 22362861 22362861 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 22362861 22362861 C T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1658 p.R553K 0.885 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 33 0 0.00 9 18 66.67 3 0 0.00 0 1 100.00 ANKRD30B 0 genome.wustl.edu 37 18 14851814 14851814 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 18 14851814 14851814 G A SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3514 p.E1172K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 50 0 0.00 18 23 56.10 2 0 0.00 2 2 50.00 DKKL1 0 genome.wustl.edu 37 19 49878104 49878104 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 49878104 49878104 C T SNP DKKL1 ENST00000221498 human ensembl 74_37 +1 known missense c.548 p.A183V 0.000 NULL NULL - no_errors DKKL1 HGNC ENSG00000104901 tier1 - - 79 0 0.00 50 37 42.53 1 0 0.00 1 2 66.67 ENSG00000232274 0 genome.wustl.edu 37 1 143209771 143209771 + R SNP T T A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 143209771 143209771 T A SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.087 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 112 0 0.00 65 25 27.78 0 0 0.00 0 2 100.00 HELZ2 0 genome.wustl.edu 37 20 62195066 62195066 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 20 62195066 62195066 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.5109 p.I1703 0.072 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 67 0 0.00 55 21 27.63 4 0 0.00 8 3 27.27 TMC6 0 genome.wustl.edu 37 17 76113631 76113631 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 17 76113631 76113631 G A SNP TMC6 ENST00000322914 human ensembl 74_37 -1 known missense c.2116 p.P706S 0.962 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 tier1 - - 69 0 0.00 18 37 67.27 2 0 0.00 1 2 66.67 ENSG00000234810 0 genome.wustl.edu 37 1 56197358 56197358 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 56197358 56197358 G A SNP ENSG00000234810 ENST00000422374 human ensembl 74_37 +1 known rna NULL NULL 0.057 - - - no_errors RP11-466L17.1 Clone_based_vega_gene ENSG00000234810 tier1 - - 46 0 0.00 47 10 17.54 23 0 0.00 22 2 8.33 ZNF302 0 genome.wustl.edu 37 19 35170820 35170820 + Missense_Mutation SNP G G T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 19 35170820 35170820 G T SNP ZNF302 ENST00000446502 human ensembl 74_37 +1 novel missense c.97 p.G33W 0.779 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 ZNF302 HGNC ENSG00000089335 tier1 - - 135 0 0.00 127 20 13.61 35 0 0.00 35 2 5.41 KANSL3 0 genome.wustl.edu 37 2 97267957 97267957 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 2 97267957 97267957 G A SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.2378 p.P793L 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 tier1 - - 74 0 0.00 51 5 8.93 79 0 0.00 36 3 7.69 MYOM3 0 genome.wustl.edu 37 1 24409022 24409022 + R SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 1 24409022 24409022 G A SNP MYOM3 ENST00000475306 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MYOM3 HGNC ENSG00000142661 tier1 - - 91 0 0.00 91 21 18.75 39 0 0.00 38 2 4.76 SORL1 0 genome.wustl.edu 37 11 121393685 121393685 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 11 121393685 121393685 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.1583 p.A528V 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 66 0 0.00 38 5 11.63 84 0 0.00 56 3 5.08 KCNK10 0 genome.wustl.edu 37 14 88729796 88729796 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 14 88729796 88729796 G A SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.152 p.S51F 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 tier1 - - 100 0 0.00 79 22 21.78 54 0 0.00 41 2 4.65 TMEM44 0 genome.wustl.edu 37 3 194337953 194337953 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2781fa26-8abc-4e5e-8494-c73da3bea55a 9257928c-7fb5-4064-8523-ba81be9b6c5b 3 194337953 194337953 G A SNP TMEM44 ENST00000392432 human ensembl 74_37 -1 known silent c.799 p.L267 0.022 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 tier1 - - 127 0 0.00 74 41 35.65 19 0 0.00 23 2 8.00