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 MAPK6 0 genome.wustl.edu 37 15 52356868 52356868 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 52356868 52356868 G A SNP MAPK6 ENST00000261845 human ensembl 74_37 +1 known missense c.1837 p.V613I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 tier1 - - 86 0 0.00 35 12 25.53 66 0 0.00 25 15 37.50 MBTD1 0 genome.wustl.edu 37 17 49279025 49279025 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 49279025 49279025 G A SNP MBTD1 ENST00000415868 human ensembl 74_37 -1 known silent c.1152 p.F384 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 tier1 - - 68 0 0.00 23 7 23.33 170 0 0.00 71 32 30.48 MYH14 0 genome.wustl.edu 37 19 50795622 50795622 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 50795622 50795622 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known silent c.5232 p.E1744 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 217 0 0.00 78 22 22.00 48 0 0.00 26 7 21.21 PSMF1 0 genome.wustl.edu 37 20 1115795 1115795 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 1115795 1115795 C T SNP PSMF1 ENST00000333082 human ensembl 74_37 +1 known missense c.397 p.R133C 0.961 pfam_FP_dom pfam_FP_dom,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 tier1 - - 63 0 0.00 21 6 22.22 111 0 0.00 50 19 27.54 BMP15 0 genome.wustl.edu 37 X 50659392 50659392 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 50659392 50659392 G A SNP BMP15 ENST00000252677 human ensembl 74_37 +1 known missense c.964 p.G322R 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 tier1 - - 40 0 0.00 10 8 44.44 71 0 0.00 32 33 50.77 MKI67IP 0 genome.wustl.edu 37 2 122488477 122488477 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 122488477 122488477 G A SNP MKI67IP ENST00000285814 human ensembl 74_37 -1 known missense c.556 p.P186S 1.000 NULL pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 tier1 - - 61 0 0.00 37 6 13.95 130 0 0.00 103 28 21.37 ABCG2 0 genome.wustl.edu 37 4 89034698 89034698 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 89034698 89034698 C T SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known silent c.951 p.E317 0.000 NULL 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 - - 57 0 0.00 13 7 35.00 126 0 0.00 47 12 20.34 ENSG00000242590 0 genome.wustl.edu 37 1 990457 990457 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 990457 990457 G A SNP ENSG00000242590 ENST00000418300 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors RP11-54O7.14 Clone_based_vega_gene ENSG00000242590 tier1 - - 45 0 0.00 11 13 54.17 91 1 1.08 33 27 45.00 ADAMTS17 0 genome.wustl.edu 37 15 100801831 100801831 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 100801831 100801831 G A SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.884 p.S295F 1.000 pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 tier1 - - 74 0 0.00 38 7 15.22 162 0 0.00 69 20 22.22 MBD5 0 genome.wustl.edu 37 2 149243394 149243394 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 149243394 149243394 C T SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.2929 p.P977S 1.000 NULL superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 tier1 - - 65 0 0.00 19 7 26.92 127 0 0.00 65 29 30.85 CCDC37 0 genome.wustl.edu 37 3 126142403 126142403 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 126142403 126142403 A G SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.1205 p.N402S 1.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 tier1 - - 77 0 0.00 39 11 22.00 72 0 0.00 60 11 15.49 PNLIPRP1 0 genome.wustl.edu 37 10 118351374 118351374 + Nonsense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 118351374 118351374 G A SNP PNLIPRP1 ENST00000358834 human ensembl 74_37 +1 known nonsense c.141 p.W47* 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 tier1 - - 54 0 0.00 14 4 22.22 102 0 0.00 71 18 20.00 OTUD7B 0 genome.wustl.edu 37 1 149939398 149939398 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 149939398 149939398 G A SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.323 p.S108F 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 tier1 - - 53 0 0.00 22 13 37.14 101 0 0.00 67 26 27.96 KSR2 0 genome.wustl.edu 37 12 117977684 117977684 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 117977684 117977684 G A SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.1527 p.I509 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 61 0 0.00 19 11 36.67 66 0 0.00 49 12 19.67 SIRT2 0 genome.wustl.edu 37 19 39371791 39371791 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 39371791 39371791 G A SNP SIRT2 ENST00000249396 human ensembl 74_37 -1 known silent c.696 p.I232 0.987 pfam_Sirtuin,pirsf_D-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_D-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT2 HGNC ENSG00000068903 tier1 rs143663529 - 43 0 0.00 28 5 15.15 98 0 0.00 51 19 27.14 GULP1 0 genome.wustl.edu 37 2 189434016 189434016 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 189434016 189434016 G A SNP GULP1 ENST00000359135 human ensembl 74_37 +1 known silent c.450 p.R150 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors GULP1 HGNC ENSG00000144366 tier1 - - 56 0 0.00 34 7 17.07 145 0 0.00 55 22 28.57 C5orf34 0 genome.wustl.edu 37 5 43492369 43492369 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 43492369 43492369 G A SNP C5orf34 ENST00000306862 human ensembl 74_37 -1 known missense c.1528 p.P510S 1.000 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 tier1 rs199593005 - 87 0 0.00 39 21 35.00 170 0 0.00 107 53 33.12 PRUNE2 0 genome.wustl.edu 37 9 79438526 79438526 + R SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 79438526 79438526 A T SNP PRUNE2 ENST00000492157 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 45 0 0.00 28 4 12.50 159 0 0.00 91 23 20.00 DUOX1 0 genome.wustl.edu 37 15 45427811 45427811 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 45427811 45427811 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.635 p.P212L 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 tier1 - - 31 0 0.00 17 5 22.73 4 0 0.00 11 2 15.38 SPAG6 0 genome.wustl.edu 37 10 22680840 22680840 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 22680840 22680840 C T SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known silent c.1416 p.L472 0.996 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 tier1 - - 61 0 0.00 26 8 23.53 137 0 0.00 50 14 21.88 GAPVD1 0 genome.wustl.edu 37 9 128099321 128099321 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 128099321 128099321 C T SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.2534 p.P845L 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 tier1 - - 71 0 0.00 34 8 19.05 76 0 0.00 60 11 15.49 SIGLEC14 0 genome.wustl.edu 37 19 52149119 52149119 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 52149119 52149119 C T SNP SIGLEC14 ENST00000360844 human ensembl 74_37 -1 known missense c.616 p.D206N 0.546 pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC14 HGNC ENSG00000254415 tier1 - - 102 0 0.00 45 11 19.64 62 0 0.00 27 9 25.00 DICER1 0 genome.wustl.edu 37 14 95562579 95562579 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 95562579 95562579 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.4678 p.A1560T 1.000 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsR-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsR-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 tier1 - - 60 0 0.00 25 11 30.56 82 0 0.00 58 12 17.14 SLC22A8 0 genome.wustl.edu 37 11 62761059 62761059 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 62761059 62761059 C T SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known missense c.1366 p.G456R 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 tier1 rs149538913 - 34 0 0.00 23 5 17.86 120 0 0.00 86 16 15.38 GCN1L1 0 genome.wustl.edu 37 12 120580481 120580481 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 120580481 120580481 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.5659 p.A1887T 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 - - 97 0 0.00 34 11 24.44 52 0 0.00 33 9 21.43 MAP4K1 0 genome.wustl.edu 37 19 39104934 39104934 + Splice_Site SNP T T G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 39104934 39104934 T G SNP MAP4K1 ENST00000591517 human ensembl 74_37 -1 known splice_site c.370-2 e6-2 1.000 - - - no_errors MAP4K1 HGNC ENSG00000104814 tier1 - - 117 0 0.00 47 12 20.34 96 0 0.00 41 19 31.15 SCN9A 0 genome.wustl.edu 37 2 167133824 167133824 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 167133824 167133824 G A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2546 p.S849F 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 68 0 0.00 31 8 20.51 160 0 0.00 54 23 29.49 DKK2 0 genome.wustl.edu 37 4 107845759 107845759 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 107845759 107845759 G A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.472 p.H158Y 0.993 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_D-bd - no_errors DKK2 HGNC ENSG00000155011 tier1 - - 74 0 0.00 38 10 20.83 165 0 0.00 86 27 23.89 DLL3 0 genome.wustl.edu 37 19 39991283 39991283 + Nonsense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 39991283 39991283 G A SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known nonsense c.380 p.W127* 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 tier1 - - 75 0 0.00 43 8 15.69 167 0 0.00 105 41 28.08 DOCK3 0 genome.wustl.edu 37 3 51297659 51297659 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 51297659 51297659 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.2257 p.E753K 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 - - 101 0 0.00 58 8 12.12 118 0 0.00 113 20 15.04 NCR1 0 genome.wustl.edu 37 19 55420788 55420788 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 55420788 55420788 G A SNP NCR1 ENST00000291890 human ensembl 74_37 +1 known silent c.540 p.V180 0.014 smart_Ig_sub smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 tier1 - - 53 0 0.00 15 8 34.78 53 0 0.00 36 18 33.33 HRNR 0 genome.wustl.edu 37 1 152193480 152193480 + Missense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 152193480 152193480 C A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.625 p.G209C 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 88 0 0.00 31 8 20.51 56 0 0.00 32 7 17.95 SLC36A2 0 genome.wustl.edu 37 5 150696516 150696516 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 150696516 150696516 G A SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known silent c.1314 p.P438 0.430 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 tier1 - - 97 0 0.00 20 12 37.50 51 0 0.00 22 14 38.89 LRRC31 0 genome.wustl.edu 37 3 169558092 169558092 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 169558092 169558092 A G SNP LRRC31 ENST00000316428 human ensembl 74_37 -1 known missense c.1337 p.I446T 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 tier1 - - 37 0 0.00 15 10 40.00 119 0 0.00 64 31 32.63 PIK3CG 0 genome.wustl.edu 37 7 106508271 106508271 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 106508271 106508271 C T SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.265 p.H89Y 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 tier1 - - 88 0 0.00 23 13 36.11 40 0 0.00 14 8 36.36 ANKRD34A 0 genome.wustl.edu 37 1 145474292 145474292 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 145474292 145474292 G A SNP ANKRD34A ENST00000323397 human ensembl 74_37 +1 known missense c.964 p.E322K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 tier1 - - 65 0 0.00 34 12 26.09 67 0 0.00 39 5 11.36 SNTG2 0 genome.wustl.edu 37 2 1079275 1079275 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 1079275 1079275 G A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known silent c.144 p.T48 0.547 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 72 0 0.00 36 5 12.20 122 1 0.81 49 6 10.91 HTT 0 genome.wustl.edu 37 4 3188392 3188392 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 3188392 3188392 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.4935 p.S1645 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 115 0 0.00 33 16 32.65 115 0 0.00 67 31 31.63 DJB11 0 genome.wustl.edu 37 3 186299164 186299164 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 186299164 186299164 T A SNP DJB11 ENST00000265028 human ensembl 74_37 +1 known missense c.461 p.V154D 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 DJB11 HGNC ENSG00000090520 tier1 - - 36 0 0.00 12 14 53.85 136 0 0.00 85 53 38.41 DH2 0 genome.wustl.edu 37 17 7726772 7726772 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 7726772 7726772 G A SNP DH2 ENST00000389173 human ensembl 74_37 +1 known missense c.11155 p.E3719K 0.986 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH2 HGNC ENSG00000183914 tier1 - - 93 0 0.00 29 12 29.27 114 0 0.00 65 16 19.51 C8orf48 0 genome.wustl.edu 37 8 13425459 13425459 + Nonstop_Mutation SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 13425459 13425459 A T SNP C8orf48 ENST00000297324 human ensembl 74_37 +1 known nonstop c.959 p.*320L 0.000 NULL NULL - no_errors C8orf48 HGNC ENSG00000164743 tier1 - - 56 0 0.00 21 15 41.67 163 0 0.00 89 60 40.27 NOTCH1 0 genome.wustl.edu 37 9 139407472 139407472 + Splice_Site SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 139407472 139407472 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known splice_site c.2467+1 e15+1 1.000 - - - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 68 0 0.00 35 17 32.69 25 0 0.00 25 7 21.21 INTS2 0 genome.wustl.edu 37 17 59945019 59945019 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 59945019 59945019 C T SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.3514 p.G1172R 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 tier1 - - 49 0 0.00 20 11 35.48 82 0 0.00 51 17 25.00 PKIB 0 genome.wustl.edu 37 6 123039007 123039007 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 123039007 123039007 G A SNP PKIB ENST00000258014 human ensembl 74_37 +1 known missense c.89 p.R30K 0.993 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIB HGNC ENSG00000135549 tier1 - - 41 0 0.00 11 10 47.62 68 0 0.00 30 13 30.23 DH7 0 genome.wustl.edu 37 2 196746611 196746611 + Nonsense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 196746611 196746611 G A SNP DH7 ENST00000312428 human ensembl 74_37 -1 known nonsense c.5869 p.R1957* 0.998 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 rs149212659 - 71 0 0.00 45 18 28.57 90 0 0.00 56 13 18.84 PCED1A 0 genome.wustl.edu 37 20 2819117 2819117 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 2819117 2819117 G A SNP PCED1A ENST00000360652 human ensembl 74_37 -1 known missense c.602 p.P201L 1.000 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 tier1 - - 37 0 0.00 19 5 20.83 107 0 0.00 85 29 25.44 PTPRG 0 genome.wustl.edu 37 3 62189327 62189327 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 62189327 62189327 C T SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known nonsense c.1858 p.Q620* 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 tier1 - - 46 0 0.00 28 6 17.65 97 1 0.99 76 12 13.64 OR51B6 0 genome.wustl.edu 37 11 5373381 5373381 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 5373381 5373381 C T SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.644 p.S215F 1.000 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 - no_errors OR51B6 HGNC ENSG00000176239 tier1 - - 57 0 0.00 20 6 23.08 99 1 0.99 63 17 21.25 NF1 0 genome.wustl.edu 37 17 29588840 29588840 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 29588840 29588840 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known silent c.4689 p.N1563 0.994 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 60 0 0.00 25 12 32.43 103 0 0.00 66 18 21.43 NUP54 0 genome.wustl.edu 37 4 77038823 77038823 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 77038823 77038823 G A SNP NUP54 ENST00000264883 human ensembl 74_37 -1 known silent c.1389 p.I463 1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 tier1 - - 35 0 0.00 15 11 42.31 69 0 0.00 47 8 14.55 PEX1 0 genome.wustl.edu 37 7 92119193 92119193 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 92119193 92119193 C T SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known missense c.3471 p.M1157I 0.176 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_D_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 tier1 - - 48 0 0.00 5 12 70.59 115 1 0.86 39 28 41.79 GALNTL5 0 genome.wustl.edu 37 7 151704932 151704932 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 151704932 151704932 G A SNP GALNTL5 ENST00000392800 human ensembl 74_37 +1 known missense c.929 p.G310E 0.995 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 tier1 - - 73 0 0.00 20 9 31.03 140 0 0.00 66 28 29.79 U2AF2 0 genome.wustl.edu 37 19 56180472 56180472 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 56180472 56180472 G A SNP U2AF2 ENST00000308924 human ensembl 74_37 +1 known missense c.969 p.M323I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 tier1 - - 139 0 0.00 58 20 25.64 46 0 0.00 30 13 30.23 GOLGA4 0 genome.wustl.edu 37 3 37366733 37366733 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 37366733 37366733 C T SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.3356 p.S1119F 0.359 NULL pfam_GRIP,superfamily_GRIP,superfamily_tR-bd_arm,superfamily_t-SRE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 tier1 - - 42 0 0.00 13 13 50.00 107 0 0.00 64 62 49.21 OR13C8 0 genome.wustl.edu 37 9 107331952 107331952 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 107331952 107331952 C T SNP OR13C8 ENST00000335040 human ensembl 74_37 +1 known silent c.504 p.F168 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C8 HGNC ENSG00000186943 tier1 - - 38 0 0.00 19 5 20.83 85 0 0.00 72 20 21.74 WASF3 0 genome.wustl.edu 37 13 27246073 27246073 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 13 27246073 27246073 G A SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known missense c.487 p.E163K 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 - - 55 0 0.00 10 13 56.52 127 1 0.78 54 24 30.00 P2RX2 0 genome.wustl.edu 37 12 133196052 133196052 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 133196052 133196052 C T SNP P2RX2 ENST00000352418 human ensembl 74_37 +1 known missense c.133 p.P45S 1.000 NULL pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 tier1 - - 87 0 0.00 30 6 16.67 51 0 0.00 28 13 31.71 GHSR 0 genome.wustl.edu 37 3 172163015 172163015 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 172163015 172163015 C T SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.1037 p.R346K 1.000 prints_GHS-R pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 tier1 - - 76 0 0.00 40 10 20.00 81 0 0.00 78 21 21.21 CSMD3 0 genome.wustl.edu 37 8 113299424 113299424 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 113299424 113299424 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9200 p.R3067K 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 - - 46 0 0.00 29 5 14.71 101 0 0.00 65 11 14.47 LTBP1 0 genome.wustl.edu 37 2 33525536 33525536 + Missense_Mutation SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 33525536 33525536 A C SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.3257 p.Q1086P 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 66 0 0.00 26 11 29.73 119 0 0.00 64 14 17.95 DSCAML1 0 genome.wustl.edu 37 11 117392047 117392047 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 117392047 117392047 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.1191 p.A397 0.954 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,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 DSCAML1 HGNC ENSG00000177103 tier1 - - 70 0 0.00 27 8 22.86 32 0 0.00 11 9 45.00 SLA 0 genome.wustl.edu 37 8 134050963 134050963 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 134050963 134050963 C T SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.757 p.G253R 0.124 NULL pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 tier1 - - 47 0 0.00 19 21 52.50 137 0 0.00 96 39 28.89 FILIP1 0 genome.wustl.edu 37 6 76017816 76017816 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 76017816 76017816 C T SNP FILIP1 ENST00000498523 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors FILIP1 HGNC ENSG00000118407 tier1 - - 63 0 0.00 17 10 37.04 107 0 0.00 44 20 31.25 PACS2 0 genome.wustl.edu 37 14 105859167 105859167 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 105859167 105859167 G A SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.2467 p.E823K 1.000 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 tier1 - - 44 0 0.00 19 7 26.92 88 0 0.00 48 25 34.25 DPYD 0 genome.wustl.edu 37 1 98164976 98164976 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 98164976 98164976 G A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.611 p.S204F 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_FAD_pyr_nucl-diS_OxRdtase pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_tR_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 - - 57 0 0.00 22 19 46.34 139 0 0.00 60 56 48.28 DH5 0 genome.wustl.edu 37 5 13727761 13727761 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 13727761 13727761 G A SNP DH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11888 p.S3963L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH5 HGNC ENSG00000039139 tier1 rs191057833 GMAF=0.0005 71 0 0.00 41 7 14.58 82 0 0.00 91 22 19.47 FAT4 0 genome.wustl.edu 37 4 126239533 126239533 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 126239533 126239533 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1967 p.S656F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 38 0 0.00 13 6 31.58 103 0 0.00 43 5 10.42 XIRP2 0 genome.wustl.edu 37 2 168107423 168107423 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 168107423 168107423 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.9521 p.P3174L 0.992 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 66 0 0.00 14 4 22.22 141 0 0.00 88 23 20.72 NOS3 0 genome.wustl.edu 37 7 150707662 150707662 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 150707662 150707662 C T SNP NOS3 ENST00000468293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NOS3 HGNC ENSG00000164867 tier1 - - 53 0 0.00 19 6 24.00 109 0 0.00 46 20 29.85 MAGI2 0 genome.wustl.edu 37 7 77807378 77807378 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 77807378 77807378 C T SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2353 p.E785K 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 tier1 - - 66 0 0.00 12 6 33.33 94 0 0.00 36 18 33.33 MUC2 0 genome.wustl.edu 37 11 1104068 1104068 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 1104068 1104068 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.8259 p.L2753 0.881 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 tier1 - - 60 0 0.00 27 5 15.62 30 0 0.00 13 2 13.33 SLC28A2 0 genome.wustl.edu 37 15 45559941 45559941 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 45559941 45559941 G A SNP SLC28A2 ENST00000347644 human ensembl 74_37 +1 known silent c.1146 p.P382 0.976 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 tier1 rs139537844 GMAF=0.0005 44 0 0.00 18 6 25.00 119 0 0.00 63 21 25.00 MS4A4A 0 genome.wustl.edu 37 11 60068484 60068484 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 60068484 60068484 C T SNP MS4A4A ENST00000337908 human ensembl 74_37 +1 known missense c.341 p.S114L 1.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A4A HGNC ENSG00000110079 tier1 - - 74 0 0.00 33 7 17.50 105 0 0.00 66 23 25.84 ARHGAP35 0 genome.wustl.edu 37 19 47424921 47424921 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 47424921 47424921 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known nonsense c.2989 p.R997* 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 tier1 - - 40 0 0.00 16 10 38.46 145 0 0.00 87 30 25.64 SMG6 0 genome.wustl.edu 37 17 2090028 2090028 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 2090028 2090028 G A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known silent c.3084 p.V1028 0.996 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 94 0 0.00 17 17 50.00 155 0 0.00 61 30 32.97 C9orf84 0 genome.wustl.edu 37 9 114476843 114476843 + Missense_Mutation SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 114476843 114476843 A T SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.2105 p.I702N 0.997 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 tier1 - - 97 0 0.00 40 13 24.53 137 1 0.72 101 22 17.89 DH9 0 genome.wustl.edu 37 17 11607592 11607592 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 11607592 11607592 T C SNP DH9 ENST00000262442 human ensembl 74_37 +1 known missense c.5224 p.Y1742H 1.000 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 DH9 HGNC ENSG00000007174 tier1 - - 49 0 0.00 20 5 20.00 80 0 0.00 46 20 30.30 NCEH1 0 genome.wustl.edu 37 3 172363419 172363419 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 172363419 172363419 G A SNP NCEH1 ENST00000538775 human ensembl 74_37 -1 known missense c.551 p.S184F 1.000 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 tier1 - - 57 0 0.00 25 9 26.47 103 0 0.00 75 15 16.67 TTC19 0 genome.wustl.edu 37 17 15909809 15909809 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 15909809 15909809 C T SNP TTC19 ENST00000486880 human ensembl 74_37 +1 known silent c.966 p.G322 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC19 HGNC ENSG00000011295 tier1 - - 38 0 0.00 23 10 30.30 105 0 0.00 79 12 13.04 NFASC 0 genome.wustl.edu 37 1 204985862 204985862 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 204985862 204985862 C T SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.134 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 63 0 0.00 29 8 21.62 71 0 0.00 53 9 14.29 TPH2 0 genome.wustl.edu 37 12 72355441 72355441 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 72355441 72355441 G A SNP TPH2 ENST00000546576 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TPH2 HGNC ENSG00000139287 tier1 - - 69 0 0.00 25 10 28.57 99 0 0.00 43 12 21.82 CCDC19 0 genome.wustl.edu 37 1 159854353 159854353 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 159854353 159854353 C T SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.770 p.G257E 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 tier1 - - 76 0 0.00 31 14 30.43 77 0 0.00 55 15 21.43 AHK 0 genome.wustl.edu 37 11 62298205 62298205 + Missense_Mutation SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 62298205 62298205 A T SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.3684 p.D1228E 0.155 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 182 0 0.00 58 19 24.68 62 0 0.00 41 13 24.07 KIAA1107 0 genome.wustl.edu 37 1 92646319 92646319 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 92646319 92646319 G A SNP KIAA1107 ENST00000409154 human ensembl 74_37 +1 known missense c.1930 p.E644K 0.986 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 tier1 - - 20 0 0.00 11 11 50.00 134 0 0.00 51 56 51.85 ENSG00000228829 0 genome.wustl.edu 37 7 75803656 75803656 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 75803656 75803656 C T SNP ENSG00000228829 ENST00000437494 human ensembl 74_37 +1 known rna NULL NULL 0.891 - - - no_errors AC005077.5 Clone_based_vega_gene ENSG00000228829 tier1 - - 30 0 0.00 6 3 33.33 48 0 0.00 34 10 22.73 MYO1B 0 genome.wustl.edu 37 2 192265479 192265479 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 192265479 192265479 G A SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.2387 p.R796Q 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS 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 - - 60 0 0.00 27 11 28.95 134 0 0.00 56 17 23.29 CACTIN 0 genome.wustl.edu 37 19 3624118 3624118 + Silent SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 3624118 3624118 T A SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known silent c.6 p.R2 0.000 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 tier1 - - 64 0 0.00 26 13 33.33 21 0 0.00 13 8 38.10 ANKFY1 0 genome.wustl.edu 37 17 4075911 4075911 + Missense_Mutation SNP G G C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 4075911 4075911 G C SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.3205 p.L1069V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 tier1 - - 91 0 0.00 28 8 22.22 72 0 0.00 51 10 16.39 C19orf57 0 genome.wustl.edu 37 19 14000987 14000987 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 14000987 14000987 G A SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known missense c.682 p.P228S 0.011 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 tier1 - - 52 0 0.00 21 10 32.26 116 0 0.00 86 12 12.12 ZIM2 0 genome.wustl.edu 37 19 57286738 57286738 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 57286738 57286738 G A SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.902 p.P301L 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 tier1 rs146726213 - 55 0 0.00 33 8 19.51 118 0 0.00 52 20 27.40 ENSG00000259069 0 genome.wustl.edu 37 14 20147149 20147149 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 20147149 20147149 C T SNP ENSG00000259069 ENST00000555580 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-597A11.6 Clone_based_vega_gene ENSG00000259069 tier1 - - 58 0 0.00 37 7 15.91 73 0 0.00 46 9 16.36 CIT 0 genome.wustl.edu 37 12 120148136 120148136 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 120148136 120148136 G A SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.4865 p.S1622F 1.000 pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 tier1 - - 65 0 0.00 21 13 38.24 121 1 0.81 58 13 18.31 ATG2B 0 genome.wustl.edu 37 14 96769409 96769409 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 96769409 96769409 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.5026 p.H1676Y 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 tier1 - - 46 0 0.00 8 3 27.27 165 0 0.00 92 23 20.00 GBE1 0 genome.wustl.edu 37 3 81754754 81754754 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 81754754 81754754 A G SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.154 p.F52L 0.898 NULL 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 - - 42 0 0.00 14 20 57.14 116 0 0.00 79 66 45.52 ZMYM4 0 genome.wustl.edu 37 1 35857822 35857822 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 35857822 35857822 C T SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.2597 p.S866F 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 tier1 - - 71 0 0.00 38 5 11.63 113 0 0.00 85 17 16.67 FAM47A 0 genome.wustl.edu 37 X 34149601 34149601 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 34149601 34149601 C T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.795 p.L265 0.277 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 130 0 0.00 42 39 48.15 38 0 0.00 10 13 56.52 GATSL3 0 genome.wustl.edu 37 22 30682027 30682027 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 30682027 30682027 G A SNP GATSL3 ENST00000407689 human ensembl 74_37 -1 known silent c.804 p.I268 0.975 NULL NULL - no_errors GATSL3 HGNC ENSG00000239282 tier1 - - 73 0 0.00 30 6 16.67 44 0 0.00 22 13 37.14 RPL22P19 0 genome.wustl.edu 37 12 125420220 125420220 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 125420220 125420220 C T SNP RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 0.863 - - - no_errors RPL22P19 HGNC ENSG00000241129 tier1 - - 71 0 0.00 29 9 23.68 39 0 0.00 43 8 15.69 LOC728586 0 genome.wustl.edu 37 5 127039193 127039193 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 127039193 127039193 G A SNP LOC728586 ENST00000514853 human ensembl 74_37 +1 known rna NULL NULL 0.456 - - - no_errors CTC-228N24.1 Clone_based_vega_gene ENSG00000230561 tier1 - - 36 0 0.00 24 10 29.41 92 0 0.00 32 39 54.93 SRGN 0 genome.wustl.edu 37 10 70863888 70863888 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 70863888 70863888 C T SNP SRGN ENST00000462445 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SRGN HGNC ENSG00000122862 tier1 - - 41 0 0.00 12 8 40.00 105 0 0.00 89 15 14.42 GRB10 0 genome.wustl.edu 37 7 50671731 50671731 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 50671731 50671731 G A SNP GRB10 ENST00000398812 human ensembl 74_37 -1 known missense c.1508 p.S503F 0.950 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 tier1 - - 104 0 0.00 43 26 37.68 110 0 0.00 62 23 27.06 TTLL8 0 genome.wustl.edu 37 22 50485696 50485696 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 50485696 50485696 G A SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known silent c.294 p.Y98 0.987 NULL pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 tier1 - - 70 0 0.00 34 8 19.05 112 0 0.00 61 17 21.79 MCM5 0 genome.wustl.edu 37 22 35799446 35799446 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 35799446 35799446 C T SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.334 p.R112W 1.000 superfamily_-bd_OB-fold pfam_MCM_D-dep_ATPase,superfamily_-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_D-dep_ATPase,pfscan_MCM_D-dep_ATPase,prints_MCM5,prints_MCM_D-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 tier1 - - 68 0 0.00 33 13 28.26 76 0 0.00 35 7 16.67 FN1 0 genome.wustl.edu 37 2 216259284 216259284 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 216259284 216259284 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.3763 p.E1255K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 58 0 0.00 21 12 36.36 121 0 0.00 62 21 25.30 CHRDL1 0 genome.wustl.edu 37 X 109922648 109922648 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 109922648 109922648 G A SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.1162 p.L388F 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 tier1 - - 37 0 0.00 13 9 40.91 80 0 0.00 27 29 51.79 PADI3 0 genome.wustl.edu 37 1 17607195 17607195 + Silent SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 17607195 17607195 G T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known silent c.1665 p.L555 1.000 pfam_PAD_C,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 - - 89 0 0.00 24 17 41.46 71 0 0.00 32 11 25.58 OR4K13 0 genome.wustl.edu 37 14 20502028 20502028 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 20502028 20502028 G A SNP OR4K13 ENST00000315693 human ensembl 74_37 -1 known missense c.890 p.A297V 0.423 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K13 HGNC ENSG00000176253 tier1 - - 36 0 0.00 23 5 17.86 78 0 0.00 45 16 26.23 ATAD2B 0 genome.wustl.edu 37 2 24051782 24051782 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 24051782 24051782 T A SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.1756 p.T586S 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 tier1 - - 77 0 0.00 42 5 10.64 172 0 0.00 70 24 25.53 MYH4 0 genome.wustl.edu 37 17 10363547 10363547 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 10363547 10363547 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.1239 p.F413 0.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 66 0 0.00 19 15 44.12 128 0 0.00 61 22 26.51 UTP3 0 genome.wustl.edu 37 4 71555131 71555131 + Missense_Mutation SNP C C G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 71555131 71555131 C G SNP UTP3 ENST00000254803 human ensembl 74_37 +1 known missense c.737 p.P246R 0.993 pfam_Sas10/Utp3/C1D pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 tier1 - - 27 0 0.00 13 5 27.78 159 0 0.00 86 27 23.48 SLCO1A2 0 genome.wustl.edu 37 12 21428334 21428334 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 21428334 21428334 G A SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known silent c.1635 p.S545 0.937 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 tier1 - - 128 0 0.00 37 9 19.57 136 0 0.00 97 21 17.80 PCDHB10 0 genome.wustl.edu 37 5 140572571 140572571 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 140572571 140572571 G A SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.446 p.G149E 0.938 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 tier1 - - 30 0 0.00 11 10 47.62 107 1 0.93 35 38 52.05 HPS4 0 genome.wustl.edu 37 22 26849247 26849247 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 26849247 26849247 G A SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.2118 p.S706 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 tier1 rs138189133 - 82 0 0.00 26 13 33.33 64 0 0.00 32 9 21.95 SEC16B 0 genome.wustl.edu 37 1 177936955 177936955 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 177936955 177936955 C T SNP SEC16B ENST00000308284 human ensembl 74_37 -1 known silent c.162 p.G54 0.174 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 tier1 - - 92 0 0.00 34 14 29.17 81 0 0.00 44 20 31.25 EIF3L 0 genome.wustl.edu 37 22 38266316 38266316 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 38266316 38266316 C T SNP EIF3L ENST00000412331 human ensembl 74_37 +1 known missense c.713 p.S238F 1.000 pfam_eIF3l pfam_eIF3l - no_errors EIF3L HGNC ENSG00000100129 tier1 - - 60 0 0.00 16 14 46.67 18 0 0.00 13 4 23.53 TANC2 0 genome.wustl.edu 37 17 61498206 61498206 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 61498206 61498206 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known silent c.4863 p.A1621 0.183 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 tier1 - - 47 0 0.00 25 5 16.67 89 0 0.00 50 10 16.67 OR9Q2 0 genome.wustl.edu 37 11 57958889 57958889 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 57958889 57958889 G A SNP OR9Q2 ENST00000311591 human ensembl 74_37 +1 known silent c.927 p.K309 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q2 HGNC ENSG00000186513 tier1 - - 30 0 0.00 6 7 53.85 149 1 0.67 74 25 25.25 PARVG 0 genome.wustl.edu 37 22 44586469 44586469 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 44586469 44586469 C T SNP PARVG ENST00000415224 human ensembl 74_37 +1 known missense c.427 p.L143F 0.990 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 tier1 - - 71 0 0.00 27 13 32.50 72 0 0.00 42 9 17.65 JAG2 0 genome.wustl.edu 37 14 105618337 105618337 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 105618337 105618337 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.977 p.A326V 0.989 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 tier1 - - 202 0 0.00 77 19 19.79 27 0 0.00 18 9 33.33 EDEM2 0 genome.wustl.edu 37 20 33711758 33711758 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 33711758 33711758 G A SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known missense c.1049 p.P350L 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 tier1 - - 85 0 0.00 55 11 16.67 157 0 0.00 139 24 14.72 WDR72 0 genome.wustl.edu 37 15 53809908 53809908 + Nonsense_Mutation SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 53809908 53809908 G T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known nonsense c.3297 p.C1099* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 tier1 - - 45 0 0.00 17 3 15.00 116 0 0.00 73 20 21.51 ITGAV 0 genome.wustl.edu 37 2 187521068 187521068 + Missense_Mutation SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 187521068 187521068 G T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.1659 p.K553N 1.000 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 ITGAV HGNC ENSG00000138448 tier1 - - 35 0 0.00 18 3 14.29 72 0 0.00 44 13 22.81 OR11A1 0 genome.wustl.edu 37 6 29395394 29395394 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 29395394 29395394 C T SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known missense c.25 p.E9K 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 tier1 - - 25 0 0.00 0 8 100.00 151 0 0.00 48 46 48.42 FIGF 0 genome.wustl.edu 37 X 15381437 15381437 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 15381437 15381437 G A SNP FIGF ENST00000297904 human ensembl 74_37 -1 known missense c.95 p.S32L 0.021 NULL pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors FIGF HGNC ENSG00000165197 tier1 - - 12 0 0.00 4 7 63.64 44 0 0.00 15 12 44.44 RGS7 0 genome.wustl.edu 37 1 240964009 240964009 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 240964009 240964009 G A SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known missense c.1426 p.P476S 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 tier1 - - 96 0 0.00 36 12 25.00 145 0 0.00 84 34 28.81 LINC00910 0 genome.wustl.edu 37 17 41465842 41465842 + R SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 41465842 41465842 G T SNP LINC00910 ENST00000341011 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00910 HGNC ENSG00000188825 tier1 - - 73 0 0.00 36 18 33.33 83 0 0.00 51 18 26.09 LOC100130691 0 genome.wustl.edu 37 2 178150092 178150092 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 178150092 178150092 G A SNP LOC100130691 ENST00000397057 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC074286.1 Clone_based_vega_gene ENSG00000213963 tier1 - - 52 0 0.00 21 3 12.50 120 0 0.00 83 20 19.42 OR4Q3 0 genome.wustl.edu 37 14 20216001 20216001 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 20216001 20216001 C T SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.415 p.P139S 0.000 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 OR4Q3 HGNC ENSG00000182652 tier1 - - 103 0 0.00 34 12 26.09 108 0 0.00 84 22 20.75 AFMID 0 genome.wustl.edu 37 17 76201264 76201264 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 76201264 76201264 C T SNP AFMID ENST00000327898 human ensembl 74_37 +1 known silent c.558 p.N186 0.995 pfam_AB_hydrolase_3 pfam_AB_hydrolase_3 - no_errors AFMID HGNC ENSG00000183077 tier1 - - 102 0 0.00 33 13 28.26 78 0 0.00 50 19 27.54 COL6A3 0 genome.wustl.edu 37 2 238280874 238280874 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 238280874 238280874 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.3786 p.L1262 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 77 0 0.00 30 6 16.67 112 0 0.00 48 16 25.00 TTC25 0 genome.wustl.edu 37 17 40095403 40095403 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 40095403 40095403 G A SNP TTC25 ENST00000591658 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TTC25 HGNC ENSG00000204815 tier1 - - 40 0 0.00 6 4 40.00 91 0 0.00 55 7 11.29 SETDB1 0 genome.wustl.edu 37 1 150923309 150923309 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 150923309 150923309 C T SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known silent c.1956 p.F652 0.998 pfam_Methyl_CpG_D-bd,superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_D-bd,superfamily_D-bd_dom,smart_Tudor,smart_Methyl_CpG_D-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_D-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 47 0 0.00 19 9 32.14 124 0 0.00 84 28 24.78 LMF2 0 genome.wustl.edu 37 22 50941899 50941899 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 50941899 50941899 G A SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known missense c.2045 p.S682F 0.000 NULL pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 tier1 - - 96 0 0.00 35 20 36.36 65 0 0.00 34 5 12.82 ENSG00000257434 0 genome.wustl.edu 37 12 75436224 75436224 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 75436224 75436224 G A SNP ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.640 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 - - 42 0 0.00 13 8 38.10 57 0 0.00 38 9 19.15 GPR152 0 genome.wustl.edu 37 11 67219868 67219868 + Missense_Mutation SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 67219868 67219868 G T SNP GPR152 ENST00000312457 human ensembl 74_37 -1 known missense c.328 p.L110I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC ENSG00000175514 tier1 - - 119 0 0.00 78 13 14.29 32 0 0.00 21 3 12.50 GRIN3A 0 genome.wustl.edu 37 9 104433107 104433107 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 104433107 104433107 C T SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known silent c.1587 p.R529 0.660 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 tier1 - - 49 0 0.00 31 16 34.04 123 1 0.80 91 34 26.77 NPAS3 0 genome.wustl.edu 37 14 34263252 34263252 + Splice_Site SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 34263252 34263252 T C SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known splice_site c.1301+2 e10+2 1.000 - - - no_errors NPAS3 HGNC ENSG00000151322 tier1 - - 47 0 0.00 35 5 12.50 122 0 0.00 63 15 19.23 CIDEB 0 genome.wustl.edu 37 14 24775214 24775214 + Missense_Mutation SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 24775214 24775214 A C SNP CIDEB ENST00000258807 human ensembl 74_37 -1 known missense c.466 p.F156V 1.000 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEB HGNC ENSG00000136305 tier1 - - 112 0 0.00 52 12 18.46 152 0 0.00 99 20 16.81 TCHHL1 0 genome.wustl.edu 37 1 152057940 152057940 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 152057940 152057940 C T SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.2218 p.E740K 0.005 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 54 0 0.00 30 7 18.92 130 0 0.00 73 20 21.51 GAPVD1 0 genome.wustl.edu 37 9 128099320 128099320 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 128099320 128099320 C T SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.2533 p.P845S 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 tier1 - - 72 0 0.00 35 8 18.60 75 0 0.00 60 11 15.49 SORCS1 0 genome.wustl.edu 37 10 108448081 108448081 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 108448081 108448081 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1429 p.G477R 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 68 0 0.00 22 9 29.03 122 1 0.81 79 27 25.47 LRRTM4 0 genome.wustl.edu 37 2 77745775 77745775 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 77745775 77745775 C T SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.1223 p.G408E 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 68 0 0.00 29 4 12.12 114 0 0.00 65 16 19.75 STAM 0 genome.wustl.edu 37 10 17747638 17747638 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 17747638 17747638 C T SNP STAM ENST00000377524 human ensembl 74_37 +1 known silent c.1107 p.S369 0.801 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 tier1 - - 41 0 0.00 6 6 50.00 139 0 0.00 62 32 34.04 NDST3 0 genome.wustl.edu 37 4 118975802 118975802 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 118975802 118975802 C T SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.737 p.P246L 0.980 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 58 0 0.00 20 7 25.93 147 0 0.00 68 17 20.00 GPR115 0 genome.wustl.edu 37 6 47682551 47682551 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 47682551 47682551 G A SNP GPR115 ENST00000371220 human ensembl 74_37 +1 known missense c.1741 p.G581R 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 tier1 - - 92 0 0.00 38 10 20.83 109 0 0.00 61 16 20.78 TTN 0 genome.wustl.edu 37 2 179418830 179418830 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 179418830 179418830 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.81304 p.L27102F 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 - - 20 0 0.00 16 4 20.00 118 0 0.00 81 12 12.90 FREM1 0 genome.wustl.edu 37 9 14759900 14759900 + Splice_Site SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 14759900 14759900 C T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known splice_site c.5208-1 e27-1 0.997 - - - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 59 0 0.00 15 11 42.31 104 0 0.00 41 25 37.88 GRIPAP1 0 genome.wustl.edu 37 X 48847539 48847539 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 48847539 48847539 G A SNP GRIPAP1 ENST00000473581 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GRIPAP1 HGNC ENSG00000068400 tier1 - - 15 0 0.00 7 4 36.36 72 0 0.00 30 13 30.23 AOC4P 0 genome.wustl.edu 37 17 41020250 41020250 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 41020250 41020250 G A SNP AOC4P ENST00000585538 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors AOC4P HGNC ENSG00000260105 tier1 - - 98 0 0.00 51 8 13.56 31 0 0.00 15 3 16.67 LOC146880 0 genome.wustl.edu 37 17 62750560 62750560 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 62750560 62750560 G A SNP LOC146880 ENST00000400873 human ensembl 74_37 -1 known rna NULL NULL 0.922 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 tier1 - - 97 0 0.00 43 10 18.87 89 0 0.00 63 22 25.88 SIPA1L1 0 genome.wustl.edu 37 14 72054645 72054645 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 72054645 72054645 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.56 p.S19F 0.998 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 74 0 0.00 23 4 14.81 71 0 0.00 58 17 22.67 EYS 0 genome.wustl.edu 37 6 65301274 65301274 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 65301274 65301274 G A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.4486 p.P1496S 0.994 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 - - 62 0 0.00 26 9 25.00 105 0 0.00 64 19 22.89 TAOK1 0 genome.wustl.edu 37 17 27818848 27818848 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 27818848 27818848 C T SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known missense c.796 p.P266S 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_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 tier1 - - 98 0 0.00 32 14 30.43 108 0 0.00 60 15 20.00 OR52B1P 0 genome.wustl.edu 37 11 6173031 6173031 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 6173031 6173031 G A SNP OR52B1P ENST00000316506 human ensembl 74_37 -1 known missense c.788 p.S263L 0.003 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B1P HGNC ENSG00000180909 tier1 - - 60 0 0.00 31 5 13.89 137 1 0.72 75 10 11.76 MST1R 0 genome.wustl.edu 37 3 49934060 49934060 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 49934060 49934060 G A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known silent c.2352 p.S784 0.930 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 - - 81 0 0.00 38 29 43.28 148 0 0.00 119 85 41.67 LAMTOR4 0 genome.wustl.edu 37 7 99753454 99753454 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 99753454 99753454 G A SNP LAMTOR4 ENST00000490633 human ensembl 74_37 +1 known rna NULL NULL 0.930 - - - no_errors LAMTOR4 HGNC ENSG00000188186 tier1 - - 60 0 0.00 11 8 42.11 116 0 0.00 32 27 45.76 ZNF888 0 genome.wustl.edu 37 19 53421202 53421202 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 53421202 53421202 G A SNP ZNF888 ENST00000596623 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZNF888 HGNC ENSG00000213793 tier1 - - 99 0 0.00 62 15 19.48 56 0 0.00 35 6 14.63 UNC45A 0 genome.wustl.edu 37 15 91479208 91479208 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 91479208 91479208 C T SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known silent c.246 p.S82 0.946 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 tier1 - - 22 0 0.00 11 4 26.67 111 0 0.00 60 33 35.48 MAOB 0 genome.wustl.edu 37 X 43662639 43662639 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 43662639 43662639 G A SNP MAOB ENST00000378069 human ensembl 74_37 -1 known missense c.292 p.P98S 0.999 pfam_Amino_oxidase,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_D-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 tier1 - - 76 0 0.00 22 23 51.11 58 0 0.00 21 19 47.50 ENSG00000249494 0 genome.wustl.edu 37 5 118347672 118347672 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 118347672 118347672 C T SNP ENSG00000249494 ENST00000504820 human ensembl 74_37 -1 known rna NULL NULL 0.185 - - - no_errors CTB-161M19.4 Clone_based_vega_gene ENSG00000249494 tier1 - - 41 0 0.00 12 8 40.00 102 0 0.00 29 19 39.58 IRF9 0 genome.wustl.edu 37 14 24631361 24631361 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 24631361 24631361 C T SNP IRF9 ENST00000396864 human ensembl 74_37 +1 known missense c.8 p.S3L 0.803 NULL pfam_Interferon_reg_fact_D-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom - no_errors IRF9 HGNC ENSG00000213928 tier1 - - 89 0 0.00 44 6 12.00 106 0 0.00 49 19 27.94 ZNF341 0 genome.wustl.edu 37 20 32345021 32345021 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 32345021 32345021 G A SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.809 p.G270E 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 tier1 - - 146 0 0.00 90 17 15.74 125 0 0.00 111 19 14.62 LAMA3 0 genome.wustl.edu 37 18 21526166 21526166 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 21526166 21526166 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.9269 p.R3090Q 0.005 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 tier1 - - 128 0 0.00 57 14 19.72 184 0 0.00 87 31 26.27 MKRN3 0 genome.wustl.edu 37 15 23810930 23810930 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 23810930 23810930 A G SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1 p.M1V 0.877 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 98 0 0.00 35 14 28.57 29 0 0.00 15 5 25.00 ADAMTS18 0 genome.wustl.edu 37 16 77334275 77334275 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 77334275 77334275 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known silent c.2559 p.G853 0.991 pfam_ADAM_spacer1 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 - - 57 0 0.00 18 8 30.77 102 0 0.00 21 22 51.16 G3BP1 0 genome.wustl.edu 37 5 151183496 151183496 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 151183496 151183496 T C SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known silent c.1245 p.T415 0.948 pfscan_RRM_dom pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 tier1 - - 46 0 0.00 12 12 50.00 73 0 0.00 15 11 42.31 MUC17 0 genome.wustl.edu 37 7 100684070 100684070 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 100684070 100684070 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9373 p.L3125F 0.004 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 111 0 0.00 28 21 42.86 32 0 0.00 14 3 17.65 CDC25B 0 genome.wustl.edu 37 20 3782642 3782642 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 3782642 3782642 C T SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known silent c.993 p.P331 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 tier1 - - 79 0 0.00 39 14 26.42 37 0 0.00 22 6 21.43 OR52N4 0 genome.wustl.edu 37 11 5776913 5776913 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 5776913 5776913 G A SNP OR52N4 ENST00000317254 human ensembl 74_37 +1 known missense c.943 p.D315N 0.733 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N4 HGNC ENSG00000181074 tier1 - - 53 0 0.00 20 6 23.08 115 0 0.00 71 18 20.22 ENSG00000204044 0 genome.wustl.edu 37 20 44642544 44642544 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 44642544 44642544 C T SNP ENSG00000204044 ENST00000535913 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-465L10.10 Clone_based_vega_gene ENSG00000204044 tier1 - - 17 0 0.00 3 8 72.73 86 0 0.00 38 58 60.42 LRP1B 0 genome.wustl.edu 37 2 142238075 142238075 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 142238075 142238075 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.233 p.P78L 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 53 0 0.00 30 7 18.92 146 0 0.00 81 21 20.59 PIN4 0 genome.wustl.edu 37 X 71417246 71417246 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 71417246 71417246 C T SNP PIN4 ENST00000373669 human ensembl 74_37 +1 known missense c.341 p.S114F 1.000 pfam_PPIase_PpiC,pfscan_PPIase_PpiC pfam_PPIase_PpiC,pfscan_PPIase_PpiC - no_errors PIN4 HGNC ENSG00000102309 tier1 - - 46 0 0.00 5 19 79.17 32 0 0.00 10 7 41.18 PLA1A 0 genome.wustl.edu 37 3 119325719 119325719 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 119325719 119325719 C T SNP PLA1A ENST00000273371 human ensembl 74_37 +1 known missense c.172 p.P58S 0.026 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 tier1 - - 51 0 0.00 41 11 21.15 231 0 0.00 146 23 13.61 PKD1L1 0 genome.wustl.edu 37 7 47835734 47835734 + Silent SNP G G C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 47835734 47835734 G C SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.8208 p.L2736 0.015 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 - - 54 0 0.00 34 10 22.73 79 0 0.00 55 12 17.65 TP53BP2 0 genome.wustl.edu 37 1 223987656 223987656 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 223987656 223987656 G A SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.1430 p.S477F 0.228 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 - - 83 0 0.00 38 10 20.83 134 0 0.00 85 28 24.78 GAD2 0 genome.wustl.edu 37 10 26581852 26581852 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 26581852 26581852 T C SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.1516 p.F506L 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 tier1 - - 70 0 0.00 16 7 30.43 88 0 0.00 34 15 30.00 PRKD1 0 genome.wustl.edu 37 14 30046618 30046618 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 30046618 30046618 G A SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known silent c.2565 p.I855 0.191 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 tier1 rs143388121 - 43 0 0.00 14 6 30.00 115 0 0.00 56 13 18.57 ACTBL2 0 genome.wustl.edu 37 5 56778454 56778454 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 56778454 56778454 G A SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known silent c.81 p.A27 0.999 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 tier1 - - 60 0 0.00 21 101 81.45 107 0 0.00 41 226 84.64 ATP7A 0 genome.wustl.edu 37 X 77289141 77289141 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 77289141 77289141 C T SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known silent c.3333 p.F1111 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Cation_transp_P-typ_ATPase_IB pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 tier1 - - 63 0 0.00 19 9 32.14 107 0 0.00 45 42 48.28 IPO13 0 genome.wustl.edu 37 1 44432656 44432656 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 44432656 44432656 G A SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known missense c.2578 p.E860K 1.000 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 tier1 - - 43 0 0.00 27 9 25.00 64 0 0.00 36 17 32.08 C5orf42 0 genome.wustl.edu 37 5 37176029 37176029 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 37176029 37176029 G A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.5960 p.T1987M 0.702 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 rs141126113 - 67 0 0.00 43 9 17.31 113 0 0.00 98 14 12.39 FAM157A 0 genome.wustl.edu 37 3 197896682 197896682 + R SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 197896682 197896682 G T SNP FAM157A ENST00000431569 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors FAM157A HGNC ENSG00000236438 tier1 - - 281 1 0.35 146 40 21.51 151 0 0.00 110 29 20.86 NPY2R 0 genome.wustl.edu 37 4 156135355 156135355 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 156135355 156135355 C T SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known silent c.264 p.F88 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 tier1 - - 36 0 0.00 16 5 23.81 124 0 0.00 68 10 12.82 TBX4 0 genome.wustl.edu 37 17 59543182 59543182 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 59543182 59543182 G A SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known missense c.284 p.R95K 1.000 pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 tier1 - - 84 0 0.00 25 6 19.35 106 0 0.00 59 34 36.56 ZNF615 0 genome.wustl.edu 37 19 52496272 52496272 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 52496272 52496272 C T SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.2090 p.G697E 1.000 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 ZNF615 HGNC ENSG00000197619 tier1 - - 101 0 0.00 62 8 11.43 89 0 0.00 72 23 24.21 MFN1 0 genome.wustl.edu 37 3 179107852 179107852 + Silent SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 179107852 179107852 G T SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known silent c.2073 p.L691 1.000 pfam_Fzo/mitofusin_HR2 pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 78 0 0.00 55 11 16.67 116 0 0.00 85 25 22.73 PTPRJ 0 genome.wustl.edu 37 11 48177363 48177363 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 48177363 48177363 C T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known silent c.3240 p.S1080 0.999 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_Fibronectin_type3,superfamily_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 tier1 - - 71 0 0.00 16 5 23.81 99 0 0.00 70 25 26.04 CARD8 0 genome.wustl.edu 37 19 48733921 48733921 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 48733921 48733921 T C SNP CARD8 ENST00000391898 human ensembl 74_37 -1 known missense c.809 p.H270R 0.966 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 tier1 - - 48 0 0.00 24 9 27.27 57 0 0.00 41 12 22.64 HIST1H3B 0 genome.wustl.edu 37 6 26032186 26032186 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 26032186 26032186 C T SNP HIST1H3B ENST00000244661 human ensembl 74_37 -1 known missense c.103 p.G35S 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 - - 69 0 0.00 28 23 45.10 15 0 0.00 11 8 42.11 ARF1 0 genome.wustl.edu 37 1 228286670 228286670 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 228286670 228286670 C T SNP ARF1 ENST00000477821 human ensembl 74_37 +1 putative rna NULL NULL 0.998 - - - no_errors ARF1 HGNC ENSG00000143761 tier1 - - 94 0 0.00 30 7 18.92 96 0 0.00 72 26 26.53 SLCO1B1 0 genome.wustl.edu 37 12 21370151 21370151 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 21370151 21370151 G A SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known silent c.1596 p.R532 0.076 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 tier1 - - 95 0 0.00 41 9 18.00 80 0 0.00 44 16 26.67 SZT2 0 genome.wustl.edu 37 1 43870167 43870167 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 43870167 43870167 G A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.444 p.E148 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 tier1 - - 67 0 0.00 25 13 34.21 71 0 0.00 40 30 42.86 MIR3174 0 genome.wustl.edu 37 15 90550017 90550017 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 90550017 90550017 C T SNP MIR3174 ENST00000583440 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3174 HGNC ENSG00000265871 tier1 - - 46 0 0.00 14 3 17.65 78 0 0.00 69 14 16.87 MYO1F 0 genome.wustl.edu 37 19 8587306 8587306 + Missense_Mutation SNP C C G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 8587306 8587306 C G SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.3175 p.E1059Q 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 tier1 - - 72 0 0.00 40 11 21.57 119 0 0.00 57 20 25.97 TTN 0 genome.wustl.edu 37 2 179604785 179604785 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 179604785 179604785 C T SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12662 p.R4221K 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 - - 43 0 0.00 17 6 26.09 71 0 0.00 48 10 17.24 NEB 0 genome.wustl.edu 37 2 152477457 152477457 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 152477457 152477457 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.10536 p.K3512 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 75 0 0.00 24 10 29.41 113 0 0.00 69 14 16.87 ACTB 0 genome.wustl.edu 37 7 5567440 5567440 + Missense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 5567440 5567440 C A SNP ACTB ENST00000331789 human ensembl 74_37 -1 known missense c.1067 p.W356L 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 tier1 - - 147 0 0.00 60 54 46.96 23 0 0.00 11 4 26.67 HPGDS 0 genome.wustl.edu 37 4 95229814 95229814 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 95229814 95229814 G A SNP HPGDS ENST00000295256 human ensembl 74_37 -1 known missense c.307 p.P103S 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 tier1 - - 62 0 0.00 16 4 20.00 158 0 0.00 62 14 18.42 ZBTB22 0 genome.wustl.edu 37 6 33284329 33284329 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 33284329 33284329 G A SNP ZBTB22 ENST00000418724 human ensembl 74_37 -1 known missense c.365 p.A122V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 tier1 - - 66 0 0.00 31 9 22.50 69 1 1.43 49 12 19.67 ENSG00000228318 0 genome.wustl.edu 37 21 42813638 42813638 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 21 42813638 42813638 C T SNP ENSG00000228318 ENST00000411427 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP001610.5 Clone_based_vega_gene ENSG00000228318 tier1 - - 27 0 0.00 15 7 31.82 124 0 0.00 72 11 13.25 ENSG00000231933 0 genome.wustl.edu 37 22 26291269 26291269 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 26291269 26291269 G A SNP ENSG00000231933 ENST00000593715 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors CTA-125H2.2 Clone_based_vega_gene ENSG00000231933 tier1 - - 45 0 0.00 26 9 25.71 112 0 0.00 78 12 13.33 HCLS1 0 genome.wustl.edu 37 3 121356022 121356022 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 121356022 121356022 C T SNP HCLS1 ENST00000314583 human ensembl 74_37 -1 known missense c.536 p.G179E 1.000 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors HCLS1 HGNC ENSG00000180353 tier1 - - 74 0 0.00 26 18 40.91 148 0 0.00 55 61 52.59 MFN1 0 genome.wustl.edu 37 3 179107859 179107859 + Nonsense_Mutation SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 179107859 179107859 G T SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known nonsense c.2080 p.E694* 1.000 pfam_Fzo/mitofusin_HR2 pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 81 0 0.00 55 9 14.06 123 1 0.81 81 28 25.69 CHAD 0 genome.wustl.edu 37 17 48545985 48545985 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 48545985 48545985 G A SNP CHAD ENST00000258969 human ensembl 74_37 -1 known missense c.190 p.P64S 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHAD HGNC ENSG00000136457 tier1 - - 71 0 0.00 28 7 20.00 96 0 0.00 55 11 16.67 ACTRT3 0 genome.wustl.edu 37 3 169487279 169487279 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 169487279 169487279 G A SNP ACTRT3 ENST00000330368 human ensembl 74_37 -1 known silent c.30 p.I10 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT3 HGNC ENSG00000184378 tier1 - - 45 0 0.00 19 20 51.28 37 0 0.00 14 11 44.00 GPR152 0 genome.wustl.edu 37 11 67219867 67219867 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 67219867 67219867 A G SNP GPR152 ENST00000312457 human ensembl 74_37 -1 known missense c.329 p.L110P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC ENSG00000175514 tier1 - - 118 0 0.00 77 13 14.44 33 0 0.00 21 3 12.50 RYR2 0 genome.wustl.edu 37 1 237948054 237948054 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 237948054 237948054 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.13060 p.E4354K 0.569 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 35 0 0.00 14 7 33.33 152 1 0.65 84 21 20.00 PCDHGC5 0 genome.wustl.edu 37 5 140869979 140869979 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 140869979 140869979 C T SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.1172 p.P391L 0.510 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 tier1 - - 40 0 0.00 10 7 41.18 167 1 0.60 52 41 44.09 ZIC4 0 genome.wustl.edu 37 3 147105490 147105490 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 147105490 147105490 G A SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 0.039 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 87 0 0.00 36 24 40.00 156 0 0.00 90 57 38.78 DENND4B 0 genome.wustl.edu 37 1 153914693 153914693 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 153914693 153914693 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known silent c.780 p.T260 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 89 0 0.00 22 13 37.14 87 0 0.00 35 11 23.91 SPAG16 0 genome.wustl.edu 37 2 214161811 214161811 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 214161811 214161811 G A SNP SPAG16 ENST00000420497 human ensembl 74_37 +1 known silent c.249 p.K83 0.014 NULL NULL - no_errors SPAG16 HGNC ENSG00000144451 tier1 - - 50 0 0.00 25 9 26.47 95 0 0.00 42 29 40.85 CARNS1 0 genome.wustl.edu 37 11 67191590 67191590 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 67191590 67191590 G A SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.2371 p.G791R 0.998 pfscan_ATP-grasp superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 tier1 - - 38 0 0.00 13 10 43.48 33 0 0.00 24 13 35.14 PEX5L 0 genome.wustl.edu 37 3 179533684 179533684 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 179533684 179533684 C T SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.1048 p.E350K 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 - - 69 0 0.00 26 15 36.59 114 0 0.00 60 46 43.40 FBXO9 0 genome.wustl.edu 37 6 52957542 52957542 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 52957542 52957542 C T SNP FBXO9 ENST00000244426 human ensembl 74_37 +1 known silent c.813 p.I271 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO9 HGNC ENSG00000112146 tier1 - - 52 0 0.00 29 12 29.27 85 0 0.00 56 14 20.00 GSN 0 genome.wustl.edu 37 9 124072904 124072904 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 124072904 124072904 C T SNP GSN ENST00000485767 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSN HGNC ENSG00000148180 tier1 - - 41 0 0.00 24 7 22.58 107 0 0.00 111 21 15.79 MBL1P 0 genome.wustl.edu 37 10 81680768 81680768 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 81680768 81680768 G A SNP MBL1P ENST00000453174 human ensembl 74_37 +1 known rna NULL NULL 0.123 - - - no_errors MBL1P HGNC ENSG00000242600 tier1 - - 188 0 0.00 78 21 21.21 78 1 1.25 24 24 50.00 MUC16 0 genome.wustl.edu 37 19 9076627 9076627 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 9076627 9076627 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.10819 p.P3607S 0.004 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 86 0 0.00 40 9 18.37 126 0 0.00 81 15 15.62 RAB11FIP1 0 genome.wustl.edu 37 8 37729999 37729999 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 37729999 37729999 G A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.2321 p.P774L 0.002 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 tier1 - - 44 0 0.00 29 9 23.68 79 0 0.00 53 16 23.19 PNPLA7 0 genome.wustl.edu 37 9 140372653 140372653 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 140372653 140372653 C T SNP PNPLA7 ENST00000469998 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors PNPLA7 HGNC ENSG00000130653 tier1 - - 103 0 0.00 59 27 31.40 28 0 0.00 11 7 38.89 PHYH 0 genome.wustl.edu 37 10 13323065 13323065 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 13323065 13323065 C T SNP PHYH ENST00000263038 human ensembl 74_37 -1 known missense c.874 p.V292M 1.000 NULL pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 tier1 - - 96 0 0.00 45 7 13.46 125 0 0.00 63 23 26.74 MAP3K5 0 genome.wustl.edu 37 6 136963669 136963669 + Silent SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 136963669 136963669 G T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known silent c.1827 p.V609 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 38 0 0.00 12 6 33.33 154 0 0.00 74 28 27.45 TAS2R31 0 genome.wustl.edu 37 12 11183124 11183124 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 11183124 11183124 A G SNP TAS2R31 ENST00000390675 human ensembl 74_37 -1 known missense c.811 p.Y271H 0.182 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R31 HGNC ENSG00000256436 tier1 - - 205 0 0.00 95 22 18.80 83 0 0.00 39 18 31.58 MAPKBP1 0 genome.wustl.edu 37 15 42092030 42092030 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 42092030 42092030 G A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.124 p.E42K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 tier1 - - 49 0 0.00 26 6 18.75 149 0 0.00 67 18 20.93 DJC1 0 genome.wustl.edu 37 10 22048458 22048458 + Nonsense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 22048458 22048458 G A SNP DJC1 ENST00000376980 human ensembl 74_37 -1 known nonsense c.1237 p.Q413* 1.000 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJC1 HGNC ENSG00000136770 tier1 - - 38 0 0.00 28 9 24.32 57 0 0.00 41 11 21.15 ANKRD10 0 genome.wustl.edu 37 13 111532383 111532383 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 13 111532383 111532383 G A SNP ANKRD10 ENST00000267339 human ensembl 74_37 -1 known silent c.864 p.S288 0.228 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD10 HGNC ENSG00000088448 tier1 - - 34 0 0.00 10 6 37.50 115 0 0.00 37 41 51.25 SLC26A7 0 genome.wustl.edu 37 8 92261935 92261935 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 92261935 92261935 C T SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.56 p.P19L 0.005 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 tier1 - - 59 0 0.00 36 6 14.29 118 0 0.00 108 16 12.70 ZFHX4 0 genome.wustl.edu 37 8 77766189 77766189 + Silent SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 77766189 77766189 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.7032 p.Q2344 0.996 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 ZFHX4 HGNC ENSG00000091656 tier1 - - 25 0 0.00 9 8 47.06 99 0 0.00 58 50 46.30 MFN1 0 genome.wustl.edu 37 3 179069740 179069740 + Silent SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 179069740 179069740 A T SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known silent c.165 p.V55 0.003 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 71 0 0.00 45 12 21.05 108 0 0.00 106 18 14.52 CELSR2 0 genome.wustl.edu 37 1 109817314 109817314 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 109817314 109817314 C T SNP CELSR2 ENST00000498157 human ensembl 74_37 +1 known rna NULL NULL 0.964 - - - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 127 0 0.00 42 20 32.26 84 0 0.00 33 13 28.26 WNT8B 0 genome.wustl.edu 37 10 102222945 102222945 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 102222945 102222945 C T SNP WNT8B ENST00000343737 human ensembl 74_37 +1 known missense c.20 p.S7F 0.960 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC ENSG00000075290 tier1 - - 48 0 0.00 24 6 20.00 120 0 0.00 43 22 33.85 UNC13D 0 genome.wustl.edu 37 17 73839111 73839111 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 73839111 73839111 C T SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known missense c.305 p.R102Q 0.003 superfamily_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 tier1 - - 23 0 0.00 12 6 33.33 21 0 0.00 11 3 21.43 SH3GLB2 0 genome.wustl.edu 37 9 131774519 131774519 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 131774519 131774519 G A SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known missense c.632 p.S211F 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 tier1 - - 160 1 0.62 116 21 15.33 26 0 0.00 25 3 10.71 TENM1 0 genome.wustl.edu 37 X 123630962 123630962 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 123630962 123630962 A G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.3599 p.L1200S 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 - - 40 0 0.00 13 15 53.57 58 0 0.00 20 21 51.22 LOC388942 0 genome.wustl.edu 37 2 42119809 42119809 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 42119809 42119809 C T SNP LOC388942 ENST00000398796 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors AC104654.1 Clone_based_vega_gene ENSG00000214691 tier1 - - 34 0 0.00 11 8 42.11 129 0 0.00 57 24 29.63 RNF213 0 genome.wustl.edu 37 17 78319813 78319813 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 78319813 78319813 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.7678 p.P2560S 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 38 0 0.00 16 5 23.81 110 1 0.90 54 25 31.65 ILKAP 0 genome.wustl.edu 37 2 239098571 239098571 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 239098571 239098571 C T SNP ILKAP ENST00000254654 human ensembl 74_37 -1 known missense c.221 p.G74E 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors ILKAP HGNC ENSG00000132323 tier1 - - 64 0 0.00 27 14 34.15 127 0 0.00 67 25 26.88 NOVA1 0 genome.wustl.edu 37 14 27018943 27018943 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 27018943 27018943 C T SNP NOVA1 ENST00000483536 human ensembl 74_37 -1 known missense c.325 p.G109S 1.000 NULL pfam_KH_dom_type_1,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 tier1 - - 67 0 0.00 23 4 14.81 92 0 0.00 40 22 35.48 PMS2CL 0 genome.wustl.edu 37 7 6776938 6776938 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 6776938 6776938 C T SNP PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PMS2CL HGNC ENSG00000187953 tier1 - - 106 0 0.00 45 20 30.77 69 0 0.00 34 24 41.38 WDR87 0 genome.wustl.edu 37 19 38380125 38380125 + Missense_Mutation SNP T T G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 38380125 38380125 T G SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.4186 p.M1396L 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 - - 53 0 0.00 15 6 28.57 110 0 0.00 48 18 27.27 AS3MT 0 genome.wustl.edu 37 10 104660349 104660349 + Splice_Site SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 104660349 104660349 G T SNP AS3MT ENST00000369880 human ensembl 74_37 +1 known splice_site c.1021-1 e11-1 0.995 - - - no_errors AS3MT HGNC ENSG00000214435 tier1 - - 72 0 0.00 36 8 18.18 106 0 0.00 86 28 24.56 SLC44A2 0 genome.wustl.edu 37 19 10753629 10753629 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 10753629 10753629 G A SNP SLC44A2 ENST00000586078 human ensembl 74_37 +1 novel missense c.2071 p.E691K 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 tier1 - - 66 0 0.00 38 18 32.14 39 0 0.00 21 5 19.23 NUP54 0 genome.wustl.edu 37 4 77065434 77065434 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 77065434 77065434 C T SNP NUP54 ENST00000264883 human ensembl 74_37 -1 known missense c.163 p.G55S 1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 tier1 - - 77 0 0.00 36 12 25.00 201 0 0.00 98 20 16.95 TP53INP1 0 genome.wustl.edu 37 8 95952344 95952344 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 95952344 95952344 G A SNP TP53INP1 ENST00000342697 human ensembl 74_37 -1 known missense c.217 p.L73F 0.972 NULL NULL - no_errors TP53INP1 HGNC ENSG00000164938 tier1 - - 64 0 0.00 29 6 17.14 145 0 0.00 99 26 20.80 PVR 0 genome.wustl.edu 37 19 45162066 45162066 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 45162066 45162066 C T SNP PVR ENST00000425690 human ensembl 74_37 +1 known silent c.1048 p.L350 0.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVR HGNC ENSG00000073008 tier1 - - 96 0 0.00 30 6 16.67 116 0 0.00 50 15 23.08 RFWD3 0 genome.wustl.edu 37 16 74662523 74662523 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 74662523 74662523 G A SNP RFWD3 ENST00000361070 human ensembl 74_37 -1 known missense c.1796 p.S599L 0.995 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 tier1 - - 44 0 0.00 16 7 30.43 132 0 0.00 62 34 35.42 FLG 0 genome.wustl.edu 37 1 152278855 152278855 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 152278855 152278855 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8507 p.S2836N 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 257 0 0.00 116 13 10.08 78 0 0.00 43 12 21.82 ZFP69B 0 genome.wustl.edu 37 1 40928208 40928208 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 40928208 40928208 C T SNP ZFP69B ENST00000411995 human ensembl 74_37 +1 known silent c.552 p.S184 0.010 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZFP69B HGNC ENSG00000187801 tier1 - - 40 0 0.00 16 5 23.81 133 0 0.00 85 57 40.14 ZNF548 0 genome.wustl.edu 37 19 57908563 57908563 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 57908563 57908563 C T SNP ZNF548 ENST00000598895 human ensembl 74_37 +1 putative nonsense c.199 p.Q67* 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 tier1 - - 106 0 0.00 42 9 17.65 72 0 0.00 38 19 33.33 CYP4F8 0 genome.wustl.edu 37 19 15739173 15739173 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 15739173 15739173 C T SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 0.978 - - - no_errors CYP4F8 HGNC ENSG00000186526 tier1 - - 89 0 0.00 25 15 37.50 16 0 0.00 14 4 22.22 NDUFB2 0 genome.wustl.edu 37 7 140402735 140402735 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 140402735 140402735 C T SNP NDUFB2 ENST00000247866 human ensembl 74_37 +1 known silent c.168 p.F56 0.000 NULL NULL - no_errors NDUFB2 HGNC ENSG00000090266 tier1 - - 99 0 0.00 27 10 27.03 115 0 0.00 50 30 37.50 VWF 0 genome.wustl.edu 37 12 6078495 6078495 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 6078495 6078495 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.7611 p.K2537 1.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 47 0 0.00 14 10 41.67 71 0 0.00 26 4 13.33 AP1G2 0 genome.wustl.edu 37 14 24033590 24033590 + Missense_Mutation SNP G G C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 24033590 24033590 G C SNP AP1G2 ENST00000308724 human ensembl 74_37 -1 known missense c.929 p.A310G 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 tier1 - - 54 0 0.00 23 7 23.33 141 0 0.00 85 24 22.02 CCDC88B 0 genome.wustl.edu 37 11 64111796 64111796 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 64111796 64111796 A G SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.1783 p.R595G 0.004 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 tier1 - - 114 0 0.00 44 26 37.14 42 0 0.00 31 16 34.04 RXFP2 0 genome.wustl.edu 37 13 32332451 32332451 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 13 32332451 32332451 C T SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.151 p.P51S 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_Relaxin_rcpt pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 82 0 0.00 33 15 31.25 103 0 0.00 30 14 31.82 LRRC37A3 0 genome.wustl.edu 37 17 62851978 62851978 + Missense_Mutation SNP T T G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 62851978 62851978 T G SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.4839 p.E1613D 0.013 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 139 0 0.00 50 13 20.63 120 0 0.00 76 11 12.64 GPR156 0 genome.wustl.edu 37 3 119887100 119887100 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 119887100 119887100 C T SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known silent c.1224 p.K408 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 tier1 - - 41 0 0.00 27 17 38.64 34 0 0.00 27 21 43.75 KLHL18 0 genome.wustl.edu 37 3 47374754 47374754 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 47374754 47374754 C T SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known silent c.708 p.F236 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 tier1 - - 61 0 0.00 34 29 46.03 87 0 0.00 31 42 57.53 CDS1 0 genome.wustl.edu 37 4 85525423 85525423 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 85525423 85525423 G A SNP CDS1 ENST00000295887 human ensembl 74_37 +1 known missense c.145 p.D49N 1.000 pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 tier1 - - 77 0 0.00 25 7 21.88 88 0 0.00 47 9 16.07 SPC5 0 genome.wustl.edu 37 15 66789961 66789961 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 66789961 66789961 G A SNP SPC5 ENST00000565465 human ensembl 74_37 -1 known missense c.109 p.P37S 0.000 NULL NULL - no_errors SPC5 HGNC ENSG00000174446 tier1 - - 275 0 0.00 112 34 23.29 22 0 0.00 16 3 15.79 CELF3 0 genome.wustl.edu 37 1 151688321 151688321 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 151688321 151688321 C T SNP CELF3 ENST00000478829 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors CELF3 HGNC ENSG00000159409 tier1 - - 61 0 0.00 29 7 19.44 55 0 0.00 32 11 25.58 ZNF222 0 genome.wustl.edu 37 19 44536292 44536292 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 44536292 44536292 T C SNP ZNF222 ENST00000391960 human ensembl 74_37 +1 known silent c.585 p.C195 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 ZNF222 HGNC ENSG00000159885 tier1 - - 103 1 0.96 52 15 22.39 39 0 0.00 17 7 29.17 RIPK3 0 genome.wustl.edu 37 14 24809177 24809177 + R SNP C C G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 24809177 24809177 C G SNP RIPK3 ENST00000554338 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RIPK3 HGNC ENSG00000129465 tier1 - - 27 0 0.00 20 5 20.00 110 0 0.00 70 18 20.45 TRPM1 0 genome.wustl.edu 37 15 31294646 31294646 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 31294646 31294646 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.4308 p.N1436 0.720 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 56 0 0.00 33 10 22.73 151 0 0.00 94 34 26.56 SORBS1 0 genome.wustl.edu 37 10 97099064 97099064 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 97099064 97099064 G A SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known silent c.3471 p.L1157 0.996 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 57 0 0.00 20 10 33.33 108 0 0.00 61 22 26.51 ALDH9A1 0 genome.wustl.edu 37 1 165649754 165649754 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 165649754 165649754 G A SNP ALDH9A1 ENST00000354775 human ensembl 74_37 -1 known silent c.759 p.S253 0.996 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 tier1 - - 38 0 0.00 13 5 27.78 135 0 0.00 72 27 27.27 IL18R1 0 genome.wustl.edu 37 2 103003460 103003460 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 103003460 103003460 G A SNP IL18R1 ENST00000233957 human ensembl 74_37 +1 known missense c.949 p.A317T 0.994 NULL 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 - no_errors IL18R1 HGNC ENSG00000115604 tier1 - - 49 0 0.00 20 6 23.08 142 0 0.00 79 26 24.76 XIRP2 0 genome.wustl.edu 37 2 167760013 167760013 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 167760013 167760013 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.21 p.G7 0.962 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 25 0 0.00 20 5 20.00 159 1 0.62 91 22 19.47 NOTCH1 0 genome.wustl.edu 37 9 139417640 139417640 + Missense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 139417640 139417640 C A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.404 p.G135V 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 99 0 0.00 55 17 23.61 35 0 0.00 29 9 23.68 USP54 0 genome.wustl.edu 37 10 75258372 75258372 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 75258372 75258372 G A SNP USP54 ENST00000497106 human ensembl 74_37 -1 known rna NULL NULL 0.075 - - - no_errors USP54 HGNC ENSG00000166348 tier1 - - 28 0 0.00 10 3 23.08 85 0 0.00 56 18 24.32 NOTCH1 0 genome.wustl.edu 37 9 139417641 139417641 + Splice_Site SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 139417641 139417641 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known splice_site c.404-1 e4-1 1.000 - - - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 97 0 0.00 56 17 23.29 35 0 0.00 29 9 23.68 SKIV2L 0 genome.wustl.edu 37 6 31931480 31931480 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 31931480 31931480 G A SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known silent c.1617 p.K539 0.999 superfamily_P-loop_NTPase,pirsf_R_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_R_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 tier1 - - 19 0 0.00 9 6 40.00 79 0 0.00 30 37 55.22 PER1 0 genome.wustl.edu 37 17 8046790 8046790 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 8046790 8046790 G A SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.2866 p.P956S 0.542 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 tier1 - - 86 0 0.00 37 8 17.78 43 0 0.00 18 3 14.29 SRRM2 0 genome.wustl.edu 37 16 2812826 2812826 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 2812826 2812826 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.2297 p.R766Q 0.507 NULL pfam_mR_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 39 0 0.00 8 10 55.56 111 0 0.00 40 18 31.03 PLA1A 0 genome.wustl.edu 37 3 119325815 119325815 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 119325815 119325815 G A SNP PLA1A ENST00000273371 human ensembl 74_37 +1 known missense c.268 p.G90R 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 tier1 - - 28 0 0.00 26 7 21.21 211 0 0.00 152 28 15.56 PAFAH1B3 0 genome.wustl.edu 37 19 42804233 42804233 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 42804233 42804233 G A SNP PAFAH1B3 ENST00000262890 human ensembl 74_37 -1 known silent c.297 p.V99 1.000 NULL NULL - no_errors PAFAH1B3 HGNC ENSG00000079462 tier1 - - 75 0 0.00 36 12 25.00 107 1 0.93 55 17 23.61 XIRP2 0 genome.wustl.edu 37 2 167760079 167760079 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 167760079 167760079 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.87 p.R29 0.001 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 37 0 0.00 29 9 23.68 161 0 0.00 73 16 17.98 ENSG00000272373 0 genome.wustl.edu 37 10 43127283 43127283 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 43127283 43127283 C T SNP ENSG00000272373 ENST00000476796 human ensembl 74_37 -1 known rna NULL NULL 0.054 - - - no_errors ZNF33B Clone_based_vega_gene ENSG00000272373 tier1 - - 36 0 0.00 22 6 21.43 161 0 0.00 92 29 23.77 CD300LG 0 genome.wustl.edu 37 17 41931256 41931256 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 41931256 41931256 C T SNP CD300LG ENST00000317310 human ensembl 74_37 +1 known missense c.563 p.S188F 0.004 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LG HGNC ENSG00000161649 tier1 - - 66 0 0.00 29 7 19.44 145 0 0.00 91 18 16.51 NIPAL1 0 genome.wustl.edu 37 4 48038018 48038018 + Silent SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 48038018 48038018 A G SNP NIPAL1 ENST00000295461 human ensembl 74_37 +1 known silent c.1062 p.L354 0.963 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 tier1 - - 61 0 0.00 24 5 17.24 107 0 0.00 54 13 19.12 PLCB4 0 genome.wustl.edu 37 20 9288516 9288516 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 9288516 9288516 G A SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.55 p.E19K 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 - - 44 0 0.00 20 10 33.33 112 0 0.00 69 11 13.41 FBXW10 0 genome.wustl.edu 37 17 18653276 18653276 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 18653276 18653276 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.912 p.P304 0.000 superfamily_F-box_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 tier1 - - 109 0 0.00 43 20 31.75 105 0 0.00 53 18 25.35 CDH7 0 genome.wustl.edu 37 18 63477063 63477063 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 63477063 63477063 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.334 p.R112C 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 CDH7 HGNC ENSG00000081138 tier1 - - 51 0 0.00 23 16 41.03 78 0 0.00 40 12 23.08 RALGAPA1 0 genome.wustl.edu 37 14 36074835 36074835 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 36074835 36074835 C T SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.5633 p.G1878E 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 tier1 - - 65 0 0.00 34 6 15.00 27 0 0.00 21 7 25.00 MAP3K14-AS1 0 genome.wustl.edu 37 17 43344761 43344761 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 43344761 43344761 G A SNP MAP3K14-AS1 ENST00000585346 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MAP3K14-AS1 HGNC ENSG00000267278 tier1 - - 81 0 0.00 49 7 12.50 50 0 0.00 26 5 16.13 NUGGC 0 genome.wustl.edu 37 8 27927065 27927065 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 27927065 27927065 G A SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known missense c.253 p.L85F 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 tier1 - - 50 0 0.00 22 4 15.38 162 0 0.00 73 28 27.45 CSMD3 0 genome.wustl.edu 37 8 114111130 114111130 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 114111130 114111130 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.772 p.P258S 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 - - 78 0 0.00 40 11 21.57 127 1 0.78 86 21 19.09 BFSP2 0 genome.wustl.edu 37 3 133119036 133119036 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 133119036 133119036 G A SNP BFSP2 ENST00000302334 human ensembl 74_37 +1 known missense c.109 p.E37K 1.000 NULL pfam_IF,prints_Keratin_I - no_errors BFSP2 HGNC ENSG00000170819 tier1 - - 100 0 0.00 43 29 40.28 52 0 0.00 26 23 46.94 DENND4B 0 genome.wustl.edu 37 1 153912188 153912188 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 153912188 153912188 C T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1696 p.V566I 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 132 0 0.00 62 13 17.33 44 0 0.00 35 12 25.53 ULK4 0 genome.wustl.edu 37 3 41497047 41497047 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 41497047 41497047 C T SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known missense c.3433 p.E1145K 0.995 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 tier1 - - 66 0 0.00 46 8 14.55 64 0 0.00 71 16 18.39 TMEM132B 0 genome.wustl.edu 37 12 126138387 126138387 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 126138387 126138387 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2368 p.E790K 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 31 0 0.00 15 7 31.82 108 0 0.00 59 29 32.95 RFWD3 0 genome.wustl.edu 37 16 74662525 74662525 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 74662525 74662525 G A SNP RFWD3 ENST00000361070 human ensembl 74_37 -1 known silent c.1794 p.A598 0.959 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 tier1 - - 45 0 0.00 16 7 30.43 130 0 0.00 62 34 35.42 ANO3 0 genome.wustl.edu 37 11 26581287 26581287 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 26581287 26581287 G A SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.1408 p.G470R 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 tier1 - - 84 0 0.00 31 16 34.04 64 0 0.00 41 15 26.79 CCSER1 0 genome.wustl.edu 37 4 92007137 92007137 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 92007137 92007137 G A SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.2209 p.G737R 1.000 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 93 0 0.00 37 10 21.28 146 0 0.00 59 26 30.59 GPR125 0 genome.wustl.edu 37 4 22404412 22404412 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 22404412 22404412 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.2243 p.G748E 1.000 smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 - - 55 0 0.00 23 8 25.81 167 0 0.00 87 18 17.14 BCL2L12 0 genome.wustl.edu 37 19 50169131 50169131 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 50169131 50169131 C T SNP BCL2L12 ENST00000246785 human ensembl 74_37 +1 known silent c.51 p.F17 0.876 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 tier1 - - 77 0 0.00 30 11 26.83 84 0 0.00 55 15 21.43 APOD 0 genome.wustl.edu 37 3 195300824 195300824 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 195300824 195300824 C T SNP APOD ENST00000343267 human ensembl 74_37 -1 known missense c.142 p.E48K 0.999 pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac - no_errors APOD HGNC ENSG00000189058 tier1 - - 80 0 0.00 47 8 14.55 136 0 0.00 102 16 13.56 SP25 0 genome.wustl.edu 37 20 10273570 10273570 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 10273570 10273570 C T SNP SP25 ENST00000304886 human ensembl 74_37 +1 known silent c.204 p.N68 1.000 superfamily_t-SRE,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 - - 45 0 0.00 19 5 20.83 185 1 0.54 89 17 15.89 COPS2 0 genome.wustl.edu 37 15 49431802 49431802 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 49431802 49431802 T A SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.295 p.I99F 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 tier1 - - 64 0 0.00 21 14 40.00 89 0 0.00 45 9 16.67 STAC2 0 genome.wustl.edu 37 17 37374401 37374401 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 37374401 37374401 G A SNP STAC2 ENST00000333461 human ensembl 74_37 -1 known missense c.116 p.S39F 1.000 NULL pfam_SH3_2,pfam_SH3_domain,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_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 tier1 - - 49 0 0.00 14 3 17.65 96 0 0.00 48 9 15.79 SLC6A4 0 genome.wustl.edu 37 17 28548792 28548792 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 28548792 28548792 G A SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known missense c.185 p.S62F 0.193 pfam_Na/ntran_symport_serotonin_N,prints_Na/ntran_symport_serotonin_N pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 tier1 - - 133 0 0.00 52 19 26.76 97 0 0.00 54 23 29.49 CRTAC1 0 genome.wustl.edu 37 10 99664461 99664461 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 99664461 99664461 G A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known silent c.961 p.L321 0.988 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 - - 66 0 0.00 27 13 32.50 73 0 0.00 42 14 25.00 WDR87 0 genome.wustl.edu 37 19 38383646 38383646 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 38383646 38383646 G A SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known silent c.2697 p.V899 0.000 NULL 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 - - 51 0 0.00 21 12 36.36 111 0 0.00 72 27 27.00 PRICKLE2 0 genome.wustl.edu 37 3 64085357 64085357 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 64085357 64085357 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known silent c.1905 p.S635 0.854 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 tier1 - - 26 0 0.00 9 9 50.00 100 0 0.00 63 51 44.74 TBX20 0 genome.wustl.edu 37 7 35242097 35242097 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 35242097 35242097 T C SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known missense c.1289 p.Y430C 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 tier1 - - 90 0 0.00 42 22 34.38 82 0 0.00 52 16 23.53 TECTA 0 genome.wustl.edu 37 11 120983818 120983818 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 120983818 120983818 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.524 p.S175F 0.976 pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom 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 - - 50 0 0.00 23 4 14.81 94 0 0.00 36 20 35.71 SLAMF1 0 genome.wustl.edu 37 1 160589632 160589632 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 160589632 160589632 C T SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known silent c.798 p.T266 0.004 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 tier1 - - 123 0 0.00 57 20 25.97 153 0 0.00 87 25 22.32 RCN3 0 genome.wustl.edu 37 19 50031746 50031746 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 50031746 50031746 C T SNP RCN3 ENST00000270645 human ensembl 74_37 +1 known missense c.17 p.S6L 0.010 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN3 HGNC ENSG00000142552 tier1 - - 39 0 0.00 27 14 34.15 30 0 0.00 25 11 30.56 H19 0 genome.wustl.edu 37 11 2017396 2017396 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 2017396 2017396 C T SNP H19 ENST00000411754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors H19 HGNC ENSG00000130600 tier1 - - 181 0 0.00 78 22 22.00 101 0 0.00 62 22 26.19 ACAN 0 genome.wustl.edu 37 15 89400698 89400698 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 89400698 89400698 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.4882 p.G1628R 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 37 0 0.00 13 7 35.00 127 0 0.00 64 27 29.67 C1orf85 0 genome.wustl.edu 37 1 156263235 156263235 + Missense_Mutation SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 156263235 156263235 A T SNP C1orf85 ENST00000362007 human ensembl 74_37 -1 known missense c.931 p.Y311N 0.001 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 tier1 - - 31 0 0.00 22 15 40.54 90 1 1.10 56 16 22.22 C12orf4 0 genome.wustl.edu 37 12 4609389 4609389 + Missense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 4609389 4609389 C A SNP C12orf4 ENST00000261250 human ensembl 74_37 -1 known missense c.1355 p.G452V 1.000 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC ENSG00000047621 tier1 - - 54 0 0.00 20 6 23.08 111 0 0.00 63 18 22.22 S100A16 0 genome.wustl.edu 37 1 153580151 153580151 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 153580151 153580151 C T SNP S100A16 ENST00000368703 human ensembl 74_37 -1 known silent c.171 p.K57 0.988 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A16 HGNC ENSG00000188643 tier1 - - 54 0 0.00 18 8 30.77 82 0 0.00 46 17 26.98 GABRG1 0 genome.wustl.edu 37 4 46086053 46086053 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 46086053 46086053 C T SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.271 p.E91K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 - - 76 0 0.00 31 18 36.73 125 0 0.00 71 21 22.83 EBF3 0 genome.wustl.edu 37 10 131639236 131639236 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 131639236 131639236 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.1433 p.P478L 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 tier1 - - 130 0 0.00 40 8 16.67 63 0 0.00 33 10 23.26 RBBP6 0 genome.wustl.edu 37 16 24581514 24581514 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 24581514 24581514 C T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.3503 p.S1168L 0.802 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 tier1 - - 49 0 0.00 12 7 36.84 145 0 0.00 54 36 40.00 INPP5D 0 genome.wustl.edu 37 2 234106796 234106796 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 234106796 234106796 G A SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.2713 p.G905R 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 tier1 - - 138 0 0.00 38 11 22.45 51 0 0.00 24 3 11.11 SSUH2 0 genome.wustl.edu 37 3 8671360 8671360 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 8671360 8671360 C T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.578 p.G193E 0.338 superfamily_HSP_DnaJ_Cys-rich_dom superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 tier1 - - 95 0 0.00 53 40 43.01 24 0 0.00 21 24 53.33 PRR23A 0 genome.wustl.edu 37 3 138724603 138724603 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 138724603 138724603 C T SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known missense c.508 p.D170N 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 tier1 - - 83 0 0.00 52 9 14.75 18 0 0.00 16 8 33.33 MICALL2 0 genome.wustl.edu 37 7 1484937 1484937 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 1484937 1484937 G A SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known missense c.769 p.P257S 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 tier1 - - 265 1 0.38 134 27 16.67 61 0 0.00 43 14 24.56 MACF1 0 genome.wustl.edu 37 1 39908410 39908410 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 39908410 39908410 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.12952 p.H4318Y 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 31 0 0.00 21 7 25.00 86 0 0.00 69 19 21.59 USP26 0 genome.wustl.edu 37 X 132161247 132161247 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 132161247 132161247 G A SNP USP26 ENST00000370832 human ensembl 74_37 -1 known silent c.1002 p.P334 0.031 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 tier1 - - 59 0 0.00 17 17 50.00 43 0 0.00 33 23 41.07 ARHGAP5 0 genome.wustl.edu 37 14 32560023 32560023 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 32560023 32560023 T C SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.148 p.Y50H 1.000 superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 76 0 0.00 21 5 19.23 44 0 0.00 21 8 27.59 OR2L3 0 genome.wustl.edu 37 1 248224295 248224295 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 248224295 248224295 G A SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.312 p.S104 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 OR2L3 HGNC ENSG00000198128 tier1 - - 130 0 0.00 61 27 30.68 117 0 0.00 80 23 22.33 GAD1 0 genome.wustl.edu 37 2 171702556 171702556 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 171702556 171702556 C T SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.985 p.L329F 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 tier1 - - 56 0 0.00 20 11 35.48 141 0 0.00 51 16 23.88 ZNF683 0 genome.wustl.edu 37 1 26694992 26694992 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 26694992 26694992 G A SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known missense c.71 p.S24F 0.294 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 tier1 - - 45 0 0.00 19 6 24.00 89 0 0.00 62 18 22.50 PKD2 0 genome.wustl.edu 37 4 88957450 88957450 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 88957450 88957450 C T SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known missense c.788 p.S263F 0.999 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 tier1 - - 21 0 0.00 10 4 28.57 126 0 0.00 39 15 27.78 RERGL 0 genome.wustl.edu 37 12 18234192 18234192 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 18234192 18234192 G A SNP RERGL ENST00000229002 human ensembl 74_37 -1 known missense c.551 p.P184L 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type - no_errors RERGL HGNC ENSG00000111404 tier1 - - 99 0 0.00 29 8 21.62 111 0 0.00 68 17 20.00 DLGAP3 0 genome.wustl.edu 37 1 35370210 35370210 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 35370210 35370210 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.775 p.G259S 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 tier1 - - 78 0 0.00 36 12 25.00 57 0 0.00 24 15 38.46 LRSAM1 0 genome.wustl.edu 37 9 130216787 130216787 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 130216787 130216787 C T SNP LRSAM1 ENST00000485704 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRSAM1 HGNC ENSG00000148356 tier1 - - 72 0 0.00 22 9 29.03 139 0 0.00 107 38 26.21 PGS1 0 genome.wustl.edu 37 17 76399984 76399984 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 76399984 76399984 T A SNP PGS1 ENST00000262764 human ensembl 74_37 +1 known missense c.1216 p.Y406N 1.000 pirsf_PLipase-D_PtdSer-synthase-type pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase - no_errors PGS1 HGNC ENSG00000087157 tier1 - - 72 0 0.00 24 14 36.84 80 0 0.00 48 13 21.31 FREM1 0 genome.wustl.edu 37 9 14823256 14823256 + Missense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 14823256 14823256 C A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.2242 p.V748F 0.916 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 83 0 0.00 33 20 37.74 142 0 0.00 37 26 41.27 ENSG00000205830 0 genome.wustl.edu 37 4 27209550 27209550 + R SNP G G C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 27209550 27209550 G C SNP ENSG00000205830 ENST00000382007 human ensembl 74_37 -1 known rna NULL NULL 0.049 - - - no_errors AC024132.1 Clone_based_vega_gene ENSG00000205830 tier1 - - 90 0 0.00 40 14 25.93 119 0 0.00 67 21 23.86 LAMC1 0 genome.wustl.edu 37 1 183102597 183102597 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 183102597 183102597 A G SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.3761 p.H1254R 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 53 0 0.00 11 4 26.67 118 1 0.84 64 16 20.00 MAP2 0 genome.wustl.edu 37 2 210517991 210517991 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 210517991 210517991 G A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.97 p.D33N 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 62 0 0.00 11 6 35.29 95 0 0.00 56 22 28.21 TCTN2 0 genome.wustl.edu 37 12 124163787 124163787 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 124163787 124163787 C T SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known missense c.515 p.P172L 1.000 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 tier1 - - 96 0 0.00 41 6 12.77 105 0 0.00 62 18 22.50 ALDH8A1 0 genome.wustl.edu 37 6 135239621 135239621 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 135239621 135239621 C T SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.1396 p.G466S 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 tier1 - - 73 0 0.00 18 13 41.94 143 0 0.00 51 24 32.00 CAMK2A 0 genome.wustl.edu 37 5 149629834 149629834 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 149629834 149629834 C T SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known silent c.855 p.E285 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC ENSG00000070808 tier1 - - 92 0 0.00 31 21 40.38 90 0 0.00 56 27 32.53 PCDHB2 0 genome.wustl.edu 37 5 140475385 140475385 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 140475385 140475385 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.1011 p.V337 0.159 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 - - 63 0 0.00 25 14 35.90 133 0 0.00 46 33 41.77 KLF15 0 genome.wustl.edu 37 3 126071535 126071535 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 126071535 126071535 C T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known silent c.231 p.L77 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 tier1 - - 41 0 0.00 6 7 53.85 16 0 0.00 11 10 47.62 SLC15A5 0 genome.wustl.edu 37 12 16377422 16377422 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 16377422 16377422 G A SNP SLC15A5 ENST00000344941 human ensembl 74_37 -1 novel missense c.1277 p.S426F 1.000 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 tier1 - - 64 0 0.00 19 4 17.39 114 0 0.00 57 22 27.85 ABCB5 0 genome.wustl.edu 37 7 20785035 20785035 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 20785035 20785035 C T SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.2068 p.H690Y 1.000 pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - - 79 0 0.00 38 11 22.45 104 0 0.00 88 31 26.05 KIRREL 0 genome.wustl.edu 37 1 158064706 158064706 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 158064706 158064706 C T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known silent c.2118 p.F706 0.999 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 94 0 0.00 35 18 33.96 88 0 0.00 45 21 31.82 KIF2B 0 genome.wustl.edu 37 17 51902212 51902212 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 51902212 51902212 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.1818 p.G606 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 65 0 0.00 18 6 25.00 155 0 0.00 101 14 12.17 COL6A6 0 genome.wustl.edu 37 3 130289705 130289705 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 130289705 130289705 T C SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.2445 p.D815 0.455 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 - - 52 0 0.00 33 22 40.00 99 0 0.00 62 33 34.74 ABCC13 0 genome.wustl.edu 37 21 15680912 15680912 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 21 15680912 15680912 G A SNP ABCC13 ENST00000482980 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ABCC13 HGNC ENSG00000243064 tier1 - - 70 0 0.00 25 13 34.21 98 0 0.00 61 19 23.75 DAZAP2 0 genome.wustl.edu 37 12 51632616 51632616 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 51632616 51632616 G A SNP DAZAP2 ENST00000551919 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DAZAP2 HGNC ENSG00000183283 tier1 - - 95 0 0.00 36 9 20.00 35 0 0.00 15 6 28.57 SLC9A4 0 genome.wustl.edu 37 2 103148903 103148903 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 103148903 103148903 G A SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.2153 p.R718K 0.042 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 tier1 - - 76 0 0.00 34 7 17.07 176 0 0.00 79 31 28.18 CLPTM1 0 genome.wustl.edu 37 19 45491350 45491350 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 45491350 45491350 G A SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known missense c.1051 p.E351K 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 tier1 - - 89 0 0.00 24 16 40.00 85 0 0.00 37 10 21.28 SI1 0 genome.wustl.edu 37 20 48600635 48600635 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 48600635 48600635 T C SNP SI1 ENST00000244050 human ensembl 74_37 +1 known silent c.357 p.S119 0.877 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SI1 HGNC ENSG00000124216 tier1 - - 48 0 0.00 22 17 43.59 68 0 0.00 37 28 43.08 DYNC1LI1 0 genome.wustl.edu 37 3 32574576 32574576 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 32574576 32574576 C T SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known missense c.982 p.D328N 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 tier1 - - 36 0 0.00 12 21 63.64 67 0 0.00 39 31 44.29 UGT2B11 0 genome.wustl.edu 37 4 70079817 70079817 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 70079817 70079817 C T SNP UGT2B11 ENST00000446444 human ensembl 74_37 -1 known missense c.624 p.M208I 0.762 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 tier1 - - 185 0 0.00 68 18 20.69 52 0 0.00 14 6 30.00 SKAP1 0 genome.wustl.edu 37 17 46474066 46474066 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 46474066 46474066 C T SNP SKAP1 ENST00000336915 human ensembl 74_37 -1 known missense c.128 p.R43Q 0.332 NULL pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP1 HGNC ENSG00000141293 tier1 rs112999194 - 57 0 0.00 18 7 28.00 139 0 0.00 52 14 21.21 TGM2 0 genome.wustl.edu 37 20 36770476 36770476 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 36770476 36770476 C T SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.985 p.E329K 0.999 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 tier1 - - 30 0 0.00 18 16 47.06 108 0 0.00 63 62 49.60 DENND4B 0 genome.wustl.edu 37 1 153914694 153914694 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 153914694 153914694 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.779 p.T260I 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 87 0 0.00 22 13 37.14 87 0 0.00 36 11 23.40 RAC1 0 genome.wustl.edu 37 7 6426892 6426892 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 6426892 6426892 C T SNP RAC1 ENST00000356142 human ensembl 74_37 +1 known missense c.85 p.P29S 1.000 pfam_Small_GTPase,pfam_MIRO-like,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,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 RAC1 HGNC ENSG00000136238 tier1 - - 87 0 0.00 44 19 30.16 127 0 0.00 65 32 32.99 TACR1 0 genome.wustl.edu 37 2 75425870 75425870 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 75425870 75425870 C T SNP TACR1 ENST00000305249 human ensembl 74_37 -1 known missense c.191 p.R64K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 tier1 - - 64 0 0.00 28 7 20.00 145 0 0.00 60 8 11.76 EPX 0 genome.wustl.edu 37 17 56281639 56281639 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 56281639 56281639 G A SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.2003 p.R668K 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 tier1 - - 65 0 0.00 19 6 24.00 87 0 0.00 49 24 32.88 SETX 0 genome.wustl.edu 37 9 135173522 135173522 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 135173522 135173522 G A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.5726 p.P1909L 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 68 0 0.00 24 5 17.24 168 0 0.00 110 23 17.29 KIF21B 0 genome.wustl.edu 37 1 200943942 200943942 + Missense_Mutation SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 200943942 200943942 A C SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.4714 p.W1572G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 79 0 0.00 37 17 31.48 85 0 0.00 44 22 33.33 ADAMTS14 0 genome.wustl.edu 37 10 72494975 72494975 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 72494975 72494975 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.1412 p.P471L 1.000 smart_ADAM_Cys-rich pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 58 0 0.00 28 6 17.65 60 0 0.00 55 16 22.22 ASTN2 0 genome.wustl.edu 37 9 119739019 119739019 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 119739019 119739019 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1637 p.R546K 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 71 0 0.00 40 16 28.57 62 0 0.00 34 17 33.33 SDCBP2 0 genome.wustl.edu 37 20 1291541 1291541 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 1291541 1291541 G A SNP SDCBP2 ENST00000467129 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SDCBP2 HGNC ENSG00000125775 tier1 - - 61 0 0.00 30 11 26.83 156 0 0.00 79 27 25.47 PKP2 0 genome.wustl.edu 37 12 32974432 32974432 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 32974432 32974432 T C SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known missense c.2003 p.K668R 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 tier1 - - 55 0 0.00 24 9 26.47 71 0 0.00 48 14 22.58 PTPDC1 0 genome.wustl.edu 37 9 96860235 96860235 + Nonsense_Mutation SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 96860235 96860235 G T SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known nonsense c.1225 p.E409* 0.427 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 tier1 - - 38 0 0.00 15 10 40.00 83 0 0.00 42 31 42.47 HLA-V 0 genome.wustl.edu 37 6 29759544 29759544 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 29759544 29759544 G A SNP HLA-V ENST00000446817 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors HLA-V HGNC ENSG00000181126 tier1 - - 92 0 0.00 28 7 20.00 49 0 0.00 33 13 28.26 FBN3 0 genome.wustl.edu 37 19 8188359 8188359 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 8188359 8188359 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.3071 p.R1024Q 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 rs151226812 - 55 0 0.00 21 11 34.38 52 0 0.00 30 11 26.83 C1orf185 0 genome.wustl.edu 37 1 51584450 51584450 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 51584450 51584450 C T SNP C1orf185 ENST00000371759 human ensembl 74_37 +1 known missense c.235 p.H79Y 1.000 NULL NULL - no_errors C1orf185 HGNC ENSG00000204006 tier1 - - 118 0 0.00 56 16 22.22 88 0 0.00 88 21 19.27 NLGN3 0 genome.wustl.edu 37 X 70387097 70387097 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 70387097 70387097 C T SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.1150 p.P384S 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 tier1 - - 20 0 0.00 6 5 45.45 38 0 0.00 27 12 30.77 ACER1 0 genome.wustl.edu 37 19 6307229 6307229 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 6307229 6307229 C T SNP ACER1 ENST00000301452 human ensembl 74_37 -1 known nonsense c.561 p.W187* 1.000 pfam_Ceramidase pfam_Ceramidase - no_errors ACER1 HGNC ENSG00000167769 tier1 - - 85 0 0.00 30 8 21.05 113 0 0.00 55 23 29.11 WDR49 0 genome.wustl.edu 37 3 167248902 167248902 + Splice_Site SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 167248902 167248902 C T SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known splice_site c.1162+1 e8+1 1.000 - - - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 98 0 0.00 40 17 29.82 21 0 0.00 15 11 42.31 OMG 0 genome.wustl.edu 37 17 29622773 29622773 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 29622773 29622773 G A SNP OMG ENST00000247271 human ensembl 74_37 -1 known missense c.577 p.L193F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMG HGNC ENSG00000126861 tier1 - - 99 0 0.00 50 14 21.88 123 0 0.00 87 17 16.35 CLEC4F 0 genome.wustl.edu 37 2 71043961 71043961 + Missense_Mutation SNP C C G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 71043961 71043961 C G SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known missense c.552 p.K184N 0.001 superfamily_Prefoldin pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 tier1 - - 64 0 0.00 31 5 13.89 89 0 0.00 50 25 33.33 DGKD 0 genome.wustl.edu 37 2 234358759 234358759 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 234358759 234358759 G A SNP DGKD ENST00000264057 human ensembl 74_37 +1 known missense c.2020 p.G674R 0.634 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 tier1 - - 46 0 0.00 9 7 43.75 58 0 0.00 32 11 25.58 EPPK1 0 genome.wustl.edu 37 8 144946231 144946231 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 144946231 144946231 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.1191 p.A397 0.870 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 9 0 0.00 4 5 55.56 23 0 0.00 21 7 25.00 MOB1B 0 genome.wustl.edu 37 4 71768104 71768104 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 71768104 71768104 G A SNP MOB1B ENST00000511449 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MOB1B HGNC ENSG00000173542 tier1 - - 145 1 0.68 54 19 26.03 50 0 0.00 20 16 44.44 FCRL2 0 genome.wustl.edu 37 1 157739747 157739747 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 157739747 157739747 C T SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known nonsense c.504 p.W168* 0.101 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 40 0 0.00 14 5 26.32 89 0 0.00 51 22 30.14 CC1 0 genome.wustl.edu 37 19 13247128 13247128 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 13247128 13247128 C T SNP CC1 ENST00000292431 human ensembl 74_37 +1 known silent c.1029 p.L343 0.497 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors CC1 HGNC ENSG00000160877 tier1 - - 101 0 0.00 42 9 17.65 97 0 0.00 60 14 18.92 NEB 0 genome.wustl.edu 37 2 152477456 152477456 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 152477456 152477456 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.10537 p.A3513T 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 76 0 0.00 23 10 30.30 113 0 0.00 68 14 17.07 SF1 0 genome.wustl.edu 37 11 64532986 64532986 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 64532986 64532986 G A SNP SF1 ENST00000334944 human ensembl 74_37 -1 known missense c.1792 p.P598S 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 tier1 - - 89 0 0.00 38 7 14.89 129 0 0.00 59 12 16.90 AURKC 0 genome.wustl.edu 37 19 57746716 57746716 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 57746716 57746716 C T SNP AURKC ENST00000302804 human ensembl 74_37 +1 known silent c.861 p.I287 0.301 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 AURKC HGNC ENSG00000105146 tier1 - - 70 0 0.00 34 6 15.00 76 0 0.00 63 21 25.00 ZNF529 0 genome.wustl.edu 37 19 37047081 37047081 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 37047081 37047081 G A SNP ZNF529 ENST00000591340 human ensembl 74_37 -1 known silent c.33 p.V11 0.002 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 ZNF529 HGNC ENSG00000186020 tier1 - - 56 0 0.00 16 10 38.46 61 1 1.54 58 20 25.64 GARNL3 0 genome.wustl.edu 37 9 130005438 130005438 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 130005438 130005438 T C SNP GARNL3 ENST00000429629 human ensembl 74_37 +1 known missense c.53 p.L18P 0.582 NULL NULL - no_errors GARNL3 HGNC ENSG00000136895 tier1 - - 75 0 0.00 29 19 39.58 127 0 0.00 59 41 41.00 OR4C46 0 genome.wustl.edu 37 11 51516172 51516172 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 51516172 51516172 G A SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known silent c.891 p.R297 0.335 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 tier1 - - 32 0 0.00 15 8 34.78 66 0 0.00 35 6 14.63 CELA3B 0 genome.wustl.edu 37 1 22310715 22310715 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 22310715 22310715 C T SNP CELA3B ENST00000337107 human ensembl 74_37 +1 known missense c.533 p.A178V 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,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors CELA3B HGNC ENSG00000219073 tier1 - - 74 0 0.00 22 19 46.34 52 0 0.00 33 17 34.00 LOC101929232 0 genome.wustl.edu 37 15 29084011 29084011 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 29084011 29084011 C T SNP LOC101929232 ENST00000563144 human ensembl 74_37 +1 putative rna NULL NULL 0.115 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 tier1 - - 126 0 0.00 58 17 22.67 68 0 0.00 45 7 13.46 OR10A7 0 genome.wustl.edu 37 12 55615216 55615216 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 55615216 55615216 G A SNP OR10A7 ENST00000326258 human ensembl 74_37 +1 known missense c.408 p.M136I 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 OR10A7 HGNC ENSG00000179919 tier1 - - 84 0 0.00 25 16 39.02 82 0 0.00 36 17 32.08 RASEF 0 genome.wustl.edu 37 9 85613338 85613338 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 85613338 85613338 G A SNP RASEF ENST00000376447 human ensembl 74_37 -1 known missense c.1747 p.L583F 0.993 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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,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 - - 75 0 0.00 36 9 20.00 118 0 0.00 82 14 14.58 TRIM71 0 genome.wustl.edu 37 3 32933059 32933059 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 32933059 32933059 G A SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.2363 p.G788D 1.000 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 - - 75 0 0.00 45 7 13.46 35 0 0.00 33 11 25.00 ZNF418 0 genome.wustl.edu 37 19 58441844 58441844 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 58441844 58441844 G A SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known missense c.85 p.L29F 0.003 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 ZNF418 HGNC ENSG00000196724 tier1 - - 178 0 0.00 72 15 17.24 68 0 0.00 36 17 32.08 SRL 0 genome.wustl.edu 37 16 4242486 4242486 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 4242486 4242486 C T SNP SRL ENST00000399609 human ensembl 74_37 -1 known missense c.1090 p.G364R 1.000 NULL pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors SRL HGNC ENSG00000185739 tier1 - - 104 0 0.00 37 9 19.57 177 0 0.00 71 35 33.02 PKD2L1 0 genome.wustl.edu 37 10 102049786 102049786 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 102049786 102049786 G A SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known missense c.2236 p.P746S 0.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 tier1 - - 68 0 0.00 39 5 11.36 113 0 0.00 61 16 20.78 UNC80 0 genome.wustl.edu 37 2 210685266 210685266 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 210685266 210685266 C T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.2194 p.P732S 0.868 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 66 0 0.00 13 6 31.58 126 0 0.00 53 21 28.38 TTC3 0 genome.wustl.edu 37 21 38495291 38495291 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 21 38495291 38495291 G A SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.1072 p.A358T 0.014 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 123 0 0.00 55 11 16.67 50 0 0.00 16 15 48.39 PLCE1 0 genome.wustl.edu 37 10 96030337 96030337 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 96030337 96030337 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.4484 p.R1495Q 1.000 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 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 - - 112 0 0.00 39 16 29.09 99 0 0.00 73 22 22.92 PAPPA 0 genome.wustl.edu 37 9 118969860 118969860 + Missense_Mutation SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 118969860 118969860 A C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.1604 p.K535T 1.000 NULL 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 - - 56 0 0.00 31 6 16.22 128 0 0.00 77 15 16.30 TTN-AS1 0 genome.wustl.edu 37 2 179484921 179484921 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 179484921 179484921 G A SNP TTN-AS1 ENST00000456053 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 44 0 0.00 17 5 22.73 175 0 0.00 84 20 19.23 PA 0 genome.wustl.edu 37 19 48018105 48018105 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 48018105 48018105 G A SNP PA ENST00000263354 human ensembl 74_37 -1 known silent c.93 p.L31 0.989 NULL prints_NSF_attach - no_errors PA HGNC ENSG00000105402 tier1 - - 156 0 0.00 61 21 25.61 53 0 0.00 37 16 30.19 TSTD2 0 genome.wustl.edu 37 9 100380134 100380134 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 100380134 100380134 C T SNP TSTD2 ENST00000341170 human ensembl 74_37 -1 known missense c.508 p.V170M 1.000 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 tier1 - - 78 0 0.00 35 20 36.36 96 0 0.00 49 26 34.67 PTK7 0 genome.wustl.edu 37 6 43113069 43113069 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 43113069 43113069 T C SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known silent c.2539 p.L847 0.930 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_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,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 - no_errors PTK7 HGNC ENSG00000112655 tier1 - - 50 0 0.00 14 9 39.13 79 0 0.00 15 18 54.55 ARHGAP35 0 genome.wustl.edu 37 19 47492888 47492888 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 47492888 47492888 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.3992 p.P1331L 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 tier1 - - 80 0 0.00 27 16 37.21 89 0 0.00 39 22 36.07 SDC1 0 genome.wustl.edu 37 2 20402441 20402441 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 20402441 20402441 G A SNP SDC1 ENST00000482879 human ensembl 74_37 -1 known rna NULL NULL 0.202 - - - no_errors SDC1 HGNC ENSG00000115884 tier1 - - 41 0 0.00 20 7 25.93 13 0 0.00 13 4 23.53 XIST 0 genome.wustl.edu 37 X 73064051 73064051 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 73064051 73064051 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 25 0 0.00 6 9 60.00 94 0 0.00 37 20 35.09 ILKAP 0 genome.wustl.edu 37 2 239098570 239098570 + Silent SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 239098570 239098570 C A SNP ILKAP ENST00000254654 human ensembl 74_37 -1 known silent c.222 p.G74 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors ILKAP HGNC ENSG00000132323 tier1 - - 65 0 0.00 26 14 35.00 129 0 0.00 69 25 26.60 CLCN5 0 genome.wustl.edu 37 X 49853357 49853357 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 49853357 49853357 C T SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known silent c.1560 p.I520 0.989 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 tier1 - - 46 0 0.00 12 7 36.84 60 0 0.00 22 17 43.59 MSH5 0 genome.wustl.edu 37 6 31721192 31721192 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 31721192 31721192 C T SNP MSH5 ENST00000375742 human ensembl 74_37 +1 known silent c.978 p.L326 0.009 pfam_D_mismatch_repair_MutS_core,superfamily_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_core pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 tier1 - - 81 0 0.00 35 24 40.68 33 0 0.00 18 14 43.75 GPR112 0 genome.wustl.edu 37 X 135427472 135427472 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 135427472 135427472 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.1607 p.S536F 0.003 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 - - 35 0 0.00 5 11 68.75 50 0 0.00 30 13 30.23 EPRS 0 genome.wustl.edu 37 1 220191843 220191843 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 220191843 220191843 G A SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.1442 p.S481L 1.000 pfam_Glu/Gln-tR-synth_Ib_cat-dom,tigrfam_Glu-tR-synth_arc/euk pfam_Glu/Gln-tR-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tR-synth_Ib_codon-bd,pfam_aa-tR-synt_IIb_cons-dom,pfam_Pro-tR_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tR_synth,superfamily_Anticodon-bd,superfamily_Pro-tR_synth_II,superfamily_S15_NS1_R-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tR_ligase_II_C,prints_Glu/Gln-tR-synth,prints_Pro-tR-ligase_IIa,pfscan_aa-tR-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tR-ligase_IIa_arc-type,tigrfam_Glu-tR-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 tier1 - - 80 0 0.00 42 7 14.29 147 0 0.00 66 17 20.48 TLR5 0 genome.wustl.edu 37 1 223285782 223285782 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 223285782 223285782 G A SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.592 p.L198F 0.254 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 tier1 - - 33 0 0.00 18 6 25.00 171 0 0.00 95 54 36.00 CYP2J2 0 genome.wustl.edu 37 1 60392370 60392370 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 60392370 60392370 G A SNP CYP2J2 ENST00000371204 human ensembl 74_37 -1 known missense c.49 p.H17Y 0.001 prints_Cyt_P450_E_grp-I_CYP2J-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2J2 HGNC ENSG00000134716 tier1 - - 95 0 0.00 59 10 14.49 28 0 0.00 21 4 16.00 SIPA1L3 0 genome.wustl.edu 37 19 38682899 38682899 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 38682899 38682899 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.4545 p.K1515 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 - - 48 0 0.00 22 8 26.67 63 0 0.00 27 11 28.95 FER1L6 0 genome.wustl.edu 37 8 124968283 124968283 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 124968283 124968283 G A SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known silent c.45 p.K15 0.999 NULL 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 - - 34 0 0.00 14 6 30.00 98 0 0.00 56 37 39.78 COL6A3 0 genome.wustl.edu 37 2 238280873 238280873 + Missense_Mutation SNP C C G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 238280873 238280873 C G SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.3787 p.D1263H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 78 0 0.00 31 7 18.42 112 0 0.00 48 16 25.00 YARS2 0 genome.wustl.edu 37 12 32908628 32908628 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 32908628 32908628 G A SNP YARS2 ENST00000324868 human ensembl 74_37 -1 known missense c.181 p.L61F 1.000 NULL pfam_aa-tR-synth_Ic,prints_Tyr-tR-ligase,tigrfam_Tyr-tR-ligase - no_errors YARS2 HGNC ENSG00000139131 tier1 - - 79 0 0.00 35 9 20.45 64 0 0.00 48 11 18.64 TONSL 0 genome.wustl.edu 37 8 145659099 145659099 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 145659099 145659099 C T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.3431 p.G1144D 0.998 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 60 0 0.00 39 13 25.00 77 0 0.00 40 5 11.11 SCN8A 0 genome.wustl.edu 37 12 52078031 52078031 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 52078031 52078031 C T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.350 p.P117L 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 58 0 0.00 25 5 16.67 159 0 0.00 77 28 26.67 SMG7 0 genome.wustl.edu 37 1 183519982 183519982 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 183519982 183519982 C T SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.3092 p.S1031F 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 - - 60 0 0.00 31 14 31.11 136 0 0.00 101 37 26.62 DRD2 0 genome.wustl.edu 37 11 113283521 113283521 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 113283521 113283521 G A SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.901 p.P301S 0.848 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM 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 - - 137 0 0.00 42 21 33.33 42 0 0.00 42 17 28.81 MUC16 0 genome.wustl.edu 37 19 9066683 9066683 + Silent SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 9066683 9066683 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.20763 p.S6921 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 89 0 0.00 37 12 24.49 177 0 0.00 100 18 15.25 MCRS1 0 genome.wustl.edu 37 12 49959887 49959887 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 49959887 49959887 G A SNP MCRS1 ENST00000357123 human ensembl 74_37 -1 known missense c.161 p.T54I 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 tier1 - - 74 0 0.00 40 12 23.08 113 0 0.00 56 20 26.32 MYC 0 genome.wustl.edu 37 8 128750684 128750684 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 128750684 128750684 C T SNP MYC ENST00000377970 human ensembl 74_37 +1 known missense c.221 p.P74L 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 tier1 - - 112 0 0.00 46 31 40.26 29 0 0.00 18 12 40.00 FZR1 0 genome.wustl.edu 37 19 3526982 3526982 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 3526982 3526982 C T SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known missense c.392 p.S131F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 tier1 - - 135 0 0.00 52 20 27.78 66 0 0.00 34 14 29.17 PGM2 0 genome.wustl.edu 37 4 37831663 37831663 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 37831663 37831663 C T SNP PGM2 ENST00000381967 human ensembl 74_37 +1 known silent c.159 p.A53 1.000 superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM2 HGNC ENSG00000169299 tier1 - - 85 0 0.00 55 11 16.67 158 0 0.00 98 35 26.32 SLCO1C1 0 genome.wustl.edu 37 12 20858969 20858969 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 20858969 20858969 G A SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.358 p.G120R 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 63 0 0.00 26 6 18.75 136 0 0.00 85 26 23.42 ADAM21 0 genome.wustl.edu 37 14 70925007 70925007 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 70925007 70925007 G A SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.791 p.G264E 0.012 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 tier1 - - 85 0 0.00 39 8 17.02 63 0 0.00 44 9 16.98 F5 0 genome.wustl.edu 37 1 169509743 169509743 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 169509743 169509743 C T SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.4585 p.E1529K 0.015 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 tier1 - - 81 0 0.00 27 4 12.90 138 0 0.00 70 26 27.08 CHD5 0 genome.wustl.edu 37 1 6204083 6204083 + Splice_Site SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 6204083 6204083 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known splice_site c.1934+1 e12+1 1.000 - - - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 87 0 0.00 43 11 20.37 29 0 0.00 25 6 19.35 NFASC 0 genome.wustl.edu 37 1 204966656 204966656 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 204966656 204966656 C T SNP NFASC ENST00000492085 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 78 0 0.00 28 16 36.36 47 0 0.00 45 13 22.41 SLC13A2 0 genome.wustl.edu 37 17 26817366 26817366 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 26817366 26817366 G A SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known silent c.273 p.G91 0.148 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 tier1 - - 84 0 0.00 27 17 38.64 120 0 0.00 47 15 24.19 CLEC2D 0 genome.wustl.edu 37 12 9840655 9840655 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 9840655 9840655 T C SNP CLEC2D ENST00000261340 human ensembl 74_37 +1 known silent c.330 p.L110 0.004 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2D HGNC ENSG00000069493 tier1 - - 104 0 0.00 49 17 25.76 64 0 0.00 49 14 22.22 DCC 0 genome.wustl.edu 37 18 50683792 50683792 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 50683792 50683792 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.1328 p.R443Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 rs200830938 GMAF=0.0005 121 0 0.00 41 11 21.15 117 0 0.00 65 22 25.29 ZNF451 0 genome.wustl.edu 37 6 56966678 56966678 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 56966678 56966678 T A SNP ZNF451 ENST00000370708 human ensembl 74_37 +1 known missense c.1464 p.D488E 1.000 pfam_LAP2alpha pfam_LAP2alpha - no_errors ZNF451 HGNC ENSG00000112200 tier1 - - 44 0 0.00 9 14 58.33 107 0 0.00 61 32 34.41 CYP2C18 0 genome.wustl.edu 37 10 96447886 96447886 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 96447886 96447886 C T SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known silent c.336 p.I112 0.001 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 CYP2C18 HGNC ENSG00000108242 tier1 - - 115 0 0.00 48 20 29.41 88 0 0.00 46 10 17.86 MIR26A1 0 genome.wustl.edu 37 3 38010914 38010914 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 38010914 38010914 C T SNP MIR26A1 ENST00000362205 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR26A1 HGNC ENSG00000199075 tier1 - - 135 0 0.00 52 48 48.00 71 0 0.00 47 46 49.46 UGT2B15 0 genome.wustl.edu 37 4 69519760 69519760 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 69519760 69519760 G A SNP UGT2B15 ENST00000338206 human ensembl 74_37 -1 known silent c.1308 p.D436 0.523 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 tier1 - - 96 0 0.00 48 12 19.67 75 0 0.00 54 12 18.18 PI4KA 0 genome.wustl.edu 37 22 21084218 21084218 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 21084218 21084218 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.4370 p.P1457L 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 71 0 0.00 30 7 18.92 75 0 0.00 52 20 27.78 NSD1 0 genome.wustl.edu 37 5 176638415 176638415 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 176638415 176638415 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known silent c.3015 p.L1005 0.091 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 30 0 0.00 4 9 69.23 144 1 0.69 75 48 39.02 T1 0 genome.wustl.edu 37 8 18079883 18079883 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 18079883 18079883 C T SNP T1 ENST00000545197 human ensembl 74_37 +1 known silent c.513 p.L171 0.003 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors T1 HGNC ENSG00000171428 tier1 - - 53 0 0.00 24 16 40.00 80 0 0.00 50 41 45.05 FSD1L 0 genome.wustl.edu 37 9 108223836 108223836 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 108223836 108223836 T A SNP FSD1L ENST00000481272 human ensembl 74_37 +1 novel missense c.51 p.D17E 0.591 NULL pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Bbox_C,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD1L HGNC ENSG00000106701 tier1 - - 151 0 0.00 81 21 20.59 135 0 0.00 111 27 19.57 ENSG00000204957 0 genome.wustl.edu 37 19 42747147 42747147 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 42747147 42747147 C T SNP ENSG00000204957 ENST00000378108 human ensembl 74_37 +1 known missense c.145 p.P49S 0.974 NULL NULL - no_errors AC006486.1 Clone_based_ensembl_gene ENSG00000204957 tier1 - - 49 0 0.00 22 11 33.33 87 0 0.00 34 13 27.66 IGSF22 0 genome.wustl.edu 37 11 18730958 18730958 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 18730958 18730958 C T SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.2974 p.G992R 0.092 pfscan_Fibronectin_type3 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 IGSF22 HGNC ENSG00000179057 tier1 - - 71 0 0.00 37 14 27.45 98 0 0.00 65 12 15.58 CAPN7 0 genome.wustl.edu 37 3 15283684 15283684 + Splice_Site SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 15283684 15283684 G A SNP CAPN7 ENST00000253693 human ensembl 74_37 +1 known splice_site c.1789-1 e16-1 1.000 - - - no_errors CAPN7 HGNC ENSG00000131375 tier1 - - 75 0 0.00 47 9 16.07 132 0 0.00 151 18 10.59 PKD1 0 genome.wustl.edu 37 16 2157673 2157673 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 2157673 2157673 G A SNP PKD1 ENST00000483558 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 36 0 0.00 9 5 35.71 113 0 0.00 42 19 31.15 TCF7L2 0 genome.wustl.edu 37 10 114912183 114912183 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 114912183 114912183 C T SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.1253 p.S418F 1.000 superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 tier1 - - 45 0 0.00 23 5 17.86 89 0 0.00 80 22 21.57 CHD5 0 genome.wustl.edu 37 1 6204084 6204084 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 6204084 6204084 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.1934 p.R645K 1.000 superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 85 0 0.00 42 11 20.75 29 0 0.00 25 6 19.35 WDR16 0 genome.wustl.edu 37 17 9536293 9536293 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 9536293 9536293 C T SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known silent c.1293 p.T431 0.002 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 tier1 rs187332485 GMAF=0.0005 37 0 0.00 14 9 39.13 114 1 0.87 45 28 38.36 ATL1 0 genome.wustl.edu 37 14 51094955 51094955 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 51094955 51094955 C T SNP ATL1 ENST00000357032 human ensembl 74_37 +1 known silent c.1326 p.F442 1.000 superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 tier1 - - 36 0 0.00 23 5 17.86 84 0 0.00 66 13 16.46 CCER1 0 genome.wustl.edu 37 12 91348922 91348922 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 91348922 91348922 G A SNP CCER1 ENST00000548187 human ensembl 74_37 -1 known rna NULL NULL 0.966 - - - no_errors CCER1 HGNC ENSG00000197651 tier1 - - 67 0 0.00 25 8 24.24 14 0 0.00 27 3 10.00 THSD7A 0 genome.wustl.edu 37 7 11676215 11676215 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 11676215 11676215 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.564 p.L188 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 30 0 0.00 18 5 21.74 61 0 0.00 29 16 34.78 PSG5 0 genome.wustl.edu 37 19 43679570 43679570 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 43679570 43679570 C T SNP PSG5 ENST00000342951 human ensembl 74_37 -1 known missense c.761 p.G254E 0.004 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 tier1 - - 137 0 0.00 60 20 25.00 27 0 0.00 17 6 25.00 TAAR2 0 genome.wustl.edu 37 6 132938844 132938844 + Silent SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 132938844 132938844 A G SNP TAAR2 ENST00000367931 human ensembl 74_37 -1 known silent c.501 p.C167 0.999 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_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR2 HGNC ENSG00000146378 tier1 - - 17 0 0.00 3 7 70.00 124 0 0.00 63 17 21.25 GUCY1A3 0 genome.wustl.edu 37 4 156638447 156638447 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 156638447 156638447 C T SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.1709 p.P570L 0.948 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 tier1 - - 54 0 0.00 21 8 27.59 111 0 0.00 55 20 26.67 EVPL 0 genome.wustl.edu 37 17 74019442 74019442 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 74019442 74019442 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.411 p.Y137 0.322 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 - - 109 0 0.00 39 17 30.36 46 0 0.00 33 14 29.79 SLC22A2 0 genome.wustl.edu 37 6 160668278 160668278 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 160668278 160668278 C T SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known missense c.895 p.A299T 0.965 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 tier1 - - 81 0 0.00 26 14 35.00 52 0 0.00 24 10 29.41 ANKRD36BP2 0 genome.wustl.edu 37 2 89104315 89104315 + R SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 89104315 89104315 A T SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.123 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 tier1 - - 116 0 0.00 76 17 18.28 27 0 0.00 12 4 25.00 QSOX2 0 genome.wustl.edu 37 9 139113687 139113687 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 139113687 139113687 G A SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known missense c.776 p.S259L 0.724 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 tier1 - - 63 0 0.00 28 4 12.50 158 0 0.00 137 21 13.29 SOGA2 0 genome.wustl.edu 37 18 8718544 8718544 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 8718544 8718544 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.96 p.I32 1.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 67 0 0.00 21 7 25.00 128 0 0.00 40 18 31.03 TMEM132C 0 genome.wustl.edu 37 12 128899448 128899448 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 128899448 128899448 C T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.257 p.T86I 0.779 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 85 0 0.00 23 11 32.35 119 0 0.00 97 21 17.65 MACF1 0 genome.wustl.edu 37 1 39905066 39905066 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 39905066 39905066 T A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.12164 p.M4055K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 77 0 0.00 33 21 38.89 91 0 0.00 54 38 41.30 ZNF638 0 genome.wustl.edu 37 2 71650322 71650322 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 71650322 71650322 T C SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known silent c.3678 p.S1226 0.017 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 tier1 - - 50 0 0.00 20 11 35.48 173 0 0.00 64 33 34.02 USHBP1 0 genome.wustl.edu 37 19 17362811 17362811 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 17362811 17362811 G A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.1708 p.P570S 0.000 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 tier1 - - 92 0 0.00 32 12 27.27 119 0 0.00 91 15 13.76 DYNC1H1 0 genome.wustl.edu 37 14 102482702 102482702 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 102482702 102482702 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.7490 p.A2497V 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 58 0 0.00 21 12 36.36 88 0 0.00 44 13 22.41 ZNF433 0 genome.wustl.edu 37 19 12129029 12129029 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 12129029 12129029 G A SNP ZNF433 ENST00000344980 human ensembl 74_37 -1 known missense c.91 p.L31F 0.850 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 ZNF433 HGNC ENSG00000197647 tier1 - - 98 0 0.00 42 19 31.15 45 0 0.00 32 21 39.62 TCTE1 0 genome.wustl.edu 37 6 44253992 44253992 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 44253992 44253992 C T SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known silent c.555 p.R185 0.030 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 tier1 - - 46 0 0.00 18 21 53.85 43 0 0.00 15 17 53.12 ZFP36 0 genome.wustl.edu 37 19 39897708 39897708 + Nonsense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 39897708 39897708 G A SNP ZFP36 ENST00000594045 human ensembl 74_37 +1 putative nonsense c.182 p.W61* 0.003 NULL NULL - no_errors ZFP36 HGNC ENSG00000128016 tier1 - - 30 0 0.00 7 6 46.15 11 0 0.00 18 4 18.18 ADCK1 0 genome.wustl.edu 37 14 78353483 78353483 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 78353483 78353483 C T SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known missense c.473 p.S158F 1.000 pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 tier1 - - 62 0 0.00 27 5 15.62 38 0 0.00 34 8 19.05 SLC15A2 0 genome.wustl.edu 37 3 121634085 121634085 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 121634085 121634085 G A SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known silent c.540 p.R180 0.877 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 tier1 - - 67 0 0.00 31 23 42.59 107 0 0.00 77 41 34.75 SRCIN1 0 genome.wustl.edu 37 17 36699353 36699353 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 36699353 36699353 C T SNP SRCIN1 ENST00000398579 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SRCIN1 HGNC ENSG00000017373 tier1 - - 45 0 0.00 23 6 20.69 105 0 0.00 47 10 17.54 ENSG00000229481 0 genome.wustl.edu 37 19 38322493 38322493 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 38322493 38322493 C T SNP ENSG00000229481 ENST00000443870 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 tier1 - - 45 0 0.00 19 11 36.67 73 0 0.00 45 27 36.99 SEL1L2 0 genome.wustl.edu 37 20 13830077 13830077 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 13830077 13830077 G A SNP SEL1L2 ENST00000482196 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 97 0 0.00 41 19 31.67 153 0 0.00 98 37 27.41 GPR144 0 genome.wustl.edu 37 9 127217163 127217163 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 127217163 127217163 C T SNP GPR144 ENST00000334810 human ensembl 74_37 +1 known silent c.1206 p.S402 0.020 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC ENSG00000180264 tier1 - - 190 1 0.52 94 18 16.07 64 0 0.00 49 9 15.52 BCL2L12 0 genome.wustl.edu 37 19 50169132 50169132 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 50169132 50169132 C T SNP BCL2L12 ENST00000246785 human ensembl 74_37 +1 known missense c.52 p.R18W 0.868 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 tier1 - - 77 0 0.00 30 11 26.83 83 0 0.00 55 16 22.54 CX3CR1 0 genome.wustl.edu 37 3 39307107 39307107 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 39307107 39307107 C T SNP CX3CR1 ENST00000358309 human ensembl 74_37 -1 known silent c.990 p.E330 0.990 prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 tier1 - - 58 0 0.00 32 21 39.62 116 0 0.00 54 52 49.06 OR5A2 0 genome.wustl.edu 37 11 59189645 59189645 + Missense_Mutation SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 59189645 59189645 A T SNP OR5A2 ENST00000302040 human ensembl 74_37 -1 known missense c.782 p.M261K 0.069 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5A2 HGNC ENSG00000172324 tier1 - - 66 0 0.00 29 5 14.71 93 0 0.00 53 12 18.46 NLN 0 genome.wustl.edu 37 5 65118981 65118981 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 65118981 65118981 C T SNP NLN ENST00000515595 human ensembl 74_37 +1 putative rna NULL NULL 0.324 - - - no_errors NLN HGNC ENSG00000123213 tier1 - - 67 0 0.00 23 12 34.29 104 0 0.00 45 10 18.18 CD1B 0 genome.wustl.edu 37 1 158299203 158299203 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 158299203 158299203 C T SNP CD1B ENST00000368168 human ensembl 74_37 -1 known silent c.843 p.V281 0.957 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 tier1 - - 70 0 0.00 34 13 27.66 64 1 1.54 48 7 12.73 MED20 0 genome.wustl.edu 37 6 41874815 41874815 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 41874815 41874815 G A SNP MED20 ENST00000265350 human ensembl 74_37 -1 known missense c.634 p.R212C 1.000 NULL pfam_Mediator_Med20 - no_errors MED20 HGNC ENSG00000124641 tier1 rs144169919 - 48 0 0.00 22 12 35.29 61 0 0.00 23 24 51.06 KRT76 0 genome.wustl.edu 37 12 53169174 53169174 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 53169174 53169174 C T SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known silent c.813 p.K271 0.480 pfam_IF,prints_Keratin_II,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 tier1 - - 77 0 0.00 20 7 25.93 169 0 0.00 101 34 25.19 FREM3 0 genome.wustl.edu 37 4 144532532 144532532 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 144532532 144532532 C T SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative silent c.5928 p.E1976 0.936 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 72 0 0.00 27 14 34.15 107 0 0.00 68 9 11.69 PRSS1 0 genome.wustl.edu 37 7 142458940 142458940 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 142458940 142458940 C T SNP PRSS1 ENST00000486171 human ensembl 74_37 +1 novel missense c.221 p.S74L 0.001 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 PRSS1 HGNC ENSG00000204983 tier1 - - 41 0 0.00 16 5 23.81 96 0 0.00 19 23 53.49 FCER2 0 genome.wustl.edu 37 19 7763242 7763242 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 7763242 7763242 C T SNP FCER2 ENST00000346664 human ensembl 74_37 -1 known missense c.190 p.V64I 0.955 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors FCER2 HGNC ENSG00000104921 tier1 - - 120 0 0.00 58 25 29.76 116 0 0.00 62 16 20.51 JAG1 0 genome.wustl.edu 37 20 10627605 10627605 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 10627605 10627605 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.1867 p.G623R 1.000 pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 tier1 - - 85 0 0.00 28 12 30.00 142 0 0.00 84 21 20.00 CPSF3 0 genome.wustl.edu 37 2 9607919 9607919 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 9607919 9607919 C T SNP CPSF3 ENST00000489403 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CPSF3 HGNC ENSG00000119203 tier1 - - 49 0 0.00 17 6 26.09 95 0 0.00 69 13 15.85 CAC1C-AS1 0 genome.wustl.edu 37 12 2786469 2786469 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 2786469 2786469 C T SNP CAC1C-AS1 ENST00000501371 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CAC1C-AS1 HGNC ENSG00000246627 tier1 - - 37 0 0.00 10 4 28.57 37 0 0.00 16 4 20.00 NBEA 0 genome.wustl.edu 37 13 36223825 36223825 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 13 36223825 36223825 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.7741 p.D2581N 1.000 NULL 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,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 81 0 0.00 16 12 42.86 94 0 0.00 29 8 21.62 RIPK3 0 genome.wustl.edu 37 14 24809178 24809178 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 24809178 24809178 C T SNP RIPK3 ENST00000554338 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RIPK3 HGNC ENSG00000129465 tier1 - - 27 0 0.00 20 5 20.00 110 0 0.00 68 17 19.77 WDR77 0 genome.wustl.edu 37 1 111984657 111984657 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 111984657 111984657 G A SNP WDR77 ENST00000235090 human ensembl 74_37 -1 known missense c.859 p.L287F 0.571 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR77 HGNC ENSG00000116455 tier1 - - 51 0 0.00 15 10 40.00 168 1 0.58 39 17 30.36 JAK3 0 genome.wustl.edu 37 19 17950351 17950351 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 17950351 17950351 T A SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.1376 p.D459V 0.012 smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 tier1 - - 49 0 0.00 25 6 18.75 92 0 0.00 36 11 23.40 EP400NL 0 genome.wustl.edu 37 12 132588701 132588701 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 132588701 132588701 C T SNP EP400NL ENST00000376625 human ensembl 74_37 +1 known silent c.136 p.L46 0.894 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 tier1 - - 136 0 0.00 44 8 15.38 34 0 0.00 21 3 12.50 ARID1A 0 genome.wustl.edu 37 1 27099425 27099425 + Missense_Mutation SNP T T G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 27099425 27099425 T G SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.3662 p.M1221R 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 43 0 0.00 21 14 40.00 122 0 0.00 73 36 33.03 NBEA 0 genome.wustl.edu 37 13 36220063 36220063 + Missense_Mutation SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 13 36220063 36220063 A C SNP NBEA ENST00000379922 human ensembl 74_37 +1 known missense c.346 p.I116L 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 29 0 0.00 12 6 33.33 129 0 0.00 54 14 20.59 LRP4 0 genome.wustl.edu 37 11 46905442 46905442 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 46905442 46905442 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known silent c.2592 p.I864 0.266 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 49 0 0.00 22 9 29.03 121 0 0.00 61 19 23.75 FCRL4 0 genome.wustl.edu 37 1 157545226 157545226 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 157545226 157545226 C T SNP FCRL4 ENST00000448509 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 24 0 0.00 13 7 35.00 77 0 0.00 44 10 18.52 SI1 0 genome.wustl.edu 37 20 48600506 48600506 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 48600506 48600506 C T SNP SI1 ENST00000244050 human ensembl 74_37 +1 known silent c.228 p.S76 0.049 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SI1 HGNC ENSG00000124216 tier1 - - 63 0 0.00 25 27 51.92 45 0 0.00 17 14 45.16 RAB8A 0 genome.wustl.edu 37 19 16222762 16222762 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 16222762 16222762 G A SNP RAB8A ENST00000300935 human ensembl 74_37 +1 known silent c.51 p.S17 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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_ARF,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 RAB8A HGNC ENSG00000167461 tier1 - - 193 0 0.00 80 19 19.19 77 0 0.00 71 38 34.86 GAD2 0 genome.wustl.edu 37 10 26581851 26581851 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 26581851 26581851 C T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known silent c.1515 p.C505 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 tier1 - - 70 0 0.00 16 7 30.43 88 0 0.00 36 15 29.41 ANO4 0 genome.wustl.edu 37 12 101133633 101133633 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 101133633 101133633 T C SNP ANO4 ENST00000538618 human ensembl 74_37 +1 known silent c.108 p.G36 1.000 NULL NULL - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 84 0 0.00 29 11 27.50 92 0 0.00 55 19 25.68 CELF3 0 genome.wustl.edu 37 1 151688320 151688320 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 151688320 151688320 C T SNP CELF3 ENST00000478829 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors CELF3 HGNC ENSG00000159409 tier1 - - 61 0 0.00 26 7 20.00 57 0 0.00 33 11 25.00 PLEKHA5 0 genome.wustl.edu 37 12 19511189 19511189 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 19511189 19511189 C T SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.2857 p.L953F 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 - - 48 0 0.00 27 7 20.59 75 0 0.00 31 6 16.22 NLRX1 0 genome.wustl.edu 37 11 119043612 119043612 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 119043612 119043612 C T SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.143 p.A48V 0.996 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 tier1 - - 48 0 0.00 25 15 37.50 112 0 0.00 50 14 21.88 OR5L1 0 genome.wustl.edu 37 11 55579026 55579026 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 55579026 55579026 C T SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known silent c.84 p.F28 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 tier1 - - 97 0 0.00 34 9 20.93 53 0 0.00 18 7 28.00 LOC101926906 0 genome.wustl.edu 37 10 91222341 91222341 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 91222341 91222341 G A SNP LOC101926906 ENST00000454270 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-168O10.6 Clone_based_vega_gene ENSG00000234452 tier1 - - 25 0 0.00 15 8 34.78 103 0 0.00 81 34 29.57 EMR1 0 genome.wustl.edu 37 19 6926613 6926613 + Splice_Site SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 6926613 6926613 G A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known splice_site c.2222+1 e16+1 0.996 - - - no_errors EMR1 HGNC ENSG00000174837 tier1 - - 69 0 0.00 30 10 24.39 82 0 0.00 67 17 20.24 COL5A3 0 genome.wustl.edu 37 19 10083625 10083625 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 10083625 10083625 G A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.3744 p.P1248 0.239 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 - - 152 0 0.00 60 15 19.74 66 0 0.00 46 17 26.98 KIDINS220 0 genome.wustl.edu 37 2 8946487 8946487 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 8946487 8946487 G A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.517 p.P173S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 tier1 - - 80 0 0.00 41 15 26.79 98 0 0.00 69 17 19.77 ENSG00000239636 0 genome.wustl.edu 37 1 36043033 36043033 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 36043033 36043033 C T SNP ENSG00000239636 ENST00000444348 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-728D4.2 Clone_based_vega_gene ENSG00000239636 tier1 - - 59 0 0.00 28 7 20.00 32 0 0.00 21 5 19.23 CACNG5 0 genome.wustl.edu 37 17 64880855 64880855 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 64880855 64880855 G A SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.647 p.G216E 0.005 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 tier1 - - 55 0 0.00 25 5 16.67 140 0 0.00 104 19 15.45 C1QTNF7 0 genome.wustl.edu 37 4 15341800 15341800 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 15341800 15341800 G A SNP C1QTNF7 ENST00000510958 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors C1QTNF7 HGNC ENSG00000163145 tier1 - - 72 0 0.00 26 9 25.71 124 0 0.00 85 24 22.02 ASB16 0 genome.wustl.edu 37 17 42255007 42255007 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 42255007 42255007 G A SNP ASB16 ENST00000293414 human ensembl 74_37 +1 known missense c.1093 p.A365T 1.000 NULL 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 - no_errors ASB16 HGNC ENSG00000161664 tier1 - - 67 0 0.00 25 13 34.21 144 1 0.69 90 36 28.57 USHBP1 0 genome.wustl.edu 37 19 17362812 17362812 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 17362812 17362812 G A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known silent c.1707 p.V569 0.000 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 tier1 - - 90 0 0.00 32 12 27.27 121 0 0.00 96 14 12.61 NRP1 0 genome.wustl.edu 37 10 33474611 33474611 + Silent SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 33474611 33474611 C A SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known silent c.2376 p.G792 0.993 pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 tier1 - - 74 0 0.00 20 5 20.00 145 0 0.00 73 19 20.65 ZNF469 0 genome.wustl.edu 37 16 88496326 88496326 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 88496326 88496326 C T SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known silent c.2448 p.F816 0.704 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 33 0 0.00 4 5 55.56 42 0 0.00 15 6 28.57 HAPLN1 0 genome.wustl.edu 37 5 82940355 82940355 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 82940355 82940355 C T SNP HAPLN1 ENST00000274341 human ensembl 74_37 -1 known missense c.602 p.G201E 0.999 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 tier1 - - 44 0 0.00 19 7 26.92 50 0 0.00 24 12 33.33 C1orf127 0 genome.wustl.edu 37 1 11008840 11008840 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 11008840 11008840 G A SNP C1orf127 ENST00000377004 human ensembl 74_37 -1 known missense c.1352 p.S451F 0.000 NULL superfamily_D-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 tier1 - - 207 0 0.00 70 43 38.05 97 0 0.00 45 34 43.04 KALRN 0 genome.wustl.edu 37 3 123946890 123946890 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 123946890 123946890 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.121 p.E41K 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 104 0 0.00 42 27 39.13 168 0 0.00 82 72 46.75 HK2 0 genome.wustl.edu 37 2 75094807 75094807 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 75094807 75094807 C T SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.271 p.R91C 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 tier1 - - 116 0 0.00 58 11 15.94 39 0 0.00 25 6 19.35 AFF2 0 genome.wustl.edu 37 X 147744250 147744250 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 147744250 147744250 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.1002 p.K334 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 75 0 0.00 19 25 56.82 81 0 0.00 20 30 60.00 MPO 0 genome.wustl.edu 37 17 56355503 56355503 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 56355503 56355503 G A SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.985 p.P329S 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 - - 30 0 0.00 14 4 22.22 64 0 0.00 35 4 10.26 NF1 0 genome.wustl.edu 37 17 29588841 29588841 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 29588841 29588841 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.4690 p.L1564F 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 59 0 0.00 25 12 32.43 106 0 0.00 66 18 21.43 SLC4A10 0 genome.wustl.edu 37 2 162821569 162821569 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 162821569 162821569 C T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known silent c.3045 p.A1015 0.516 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 SLC4A10 HGNC ENSG00000144290 tier1 - - 95 0 0.00 29 12 29.27 160 0 0.00 88 30 25.42 UNC80 0 genome.wustl.edu 37 2 210678560 210678560 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 210678560 210678560 A G SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.1195 p.T399A 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 73 0 0.00 15 5 25.00 183 0 0.00 108 34 23.94 SYCE1 0 genome.wustl.edu 37 10 135371703 135371703 + Missense_Mutation SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 135371703 135371703 A T SNP SYCE1 ENST00000343131 human ensembl 74_37 -1 known missense c.287 p.V96E 0.759 NULL NULL - no_errors SYCE1 HGNC ENSG00000171772 tier1 - - 91 0 0.00 26 7 21.21 106 0 0.00 79 16 16.67 CSMD3 0 genome.wustl.edu 37 8 113694814 113694814 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 113694814 113694814 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2534 p.R845Q 0.974 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 - - 67 0 0.00 27 14 34.15 160 0 0.00 122 35 22.15 XPO7 0 genome.wustl.edu 37 8 21837635 21837635 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 21837635 21837635 C T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.905 p.S302F 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 tier1 - - 66 0 0.00 31 4 11.43 123 0 0.00 88 16 15.38 KIF2B 0 genome.wustl.edu 37 17 51902398 51902398 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 51902398 51902398 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.2004 p.V668 0.345 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 30 0 0.00 16 5 23.81 96 0 0.00 45 16 26.23 TCOF1 0 genome.wustl.edu 37 5 149758815 149758815 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 149758815 149758815 C T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known silent c.2502 p.P834 0.159 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 - - 63 0 0.00 15 25 62.50 74 0 0.00 35 34 49.28 ESPN 0 genome.wustl.edu 37 1 6520710 6520710 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 6520710 6520710 C T SNP ESPN ENST00000468561 human ensembl 74_37 +1 known rna NULL NULL 0.361 - - - no_errors ESPN HGNC ENSG00000187017 tier1 - - 122 0 0.00 57 19 25.00 77 0 0.00 75 21 21.88 RAB2A 0 genome.wustl.edu 37 8 61496781 61496781 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 61496781 61496781 C T SNP RAB2A ENST00000262646 human ensembl 74_37 +1 known silent c.201 p.S67 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,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,pfam_EF_GTP-bd_dom,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 RAB2A HGNC ENSG00000104388 tier1 - - 106 0 0.00 55 12 17.91 140 0 0.00 109 22 16.79 PHLDB1 0 genome.wustl.edu 37 11 118520812 118520812 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 118520812 118520812 C T SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.3685 p.R1229W 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 tier1 - - 78 0 0.00 24 8 25.00 97 0 0.00 54 18 25.00 RLIM 0 genome.wustl.edu 37 X 73812544 73812544 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 73812544 73812544 G A SNP RLIM ENST00000332687 human ensembl 74_37 -1 known silent c.606 p.V202 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 tier1 - - 34 0 0.00 6 9 60.00 26 0 0.00 29 9 23.68 CENPF 0 genome.wustl.edu 37 1 214828746 214828746 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 214828746 214828746 G A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.8485 p.G2829S 0.994 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 tier1 - - 34 0 0.00 29 13 30.95 165 0 0.00 88 34 27.87 PCSK4 0 genome.wustl.edu 37 19 1482406 1482406 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 1482406 1482406 G A SNP PCSK4 ENST00000300954 human ensembl 74_37 -1 known missense c.1765 p.P589S 0.872 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 tier1 - - 85 0 0.00 70 7 9.09 11 0 0.00 12 2 14.29 TMPRSS6 0 genome.wustl.edu 37 22 37499331 37499331 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 37499331 37499331 G A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known missense c.127 p.R43C 0.999 pirsf_Pept_S1A_matriptase-2 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 tier1 - - 98 0 0.00 51 13 20.31 99 0 0.00 74 13 14.94 C3orf20 0 genome.wustl.edu 37 3 14756898 14756898 + Silent SNP G G C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 14756898 14756898 G C SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known silent c.1416 p.L472 0.775 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 tier1 - - 55 0 0.00 52 6 10.34 102 0 0.00 101 26 20.31 MCF2L 0 genome.wustl.edu 37 13 113743994 113743994 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 13 113743994 113743994 G A SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.3076 p.G1026R 0.912 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 tier1 - - 61 0 0.00 8 13 61.90 157 0 0.00 61 24 28.24 ENTPD8 0 genome.wustl.edu 37 9 140331643 140331643 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 140331643 140331643 G A SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known silent c.363 p.F121 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 tier1 - - 37 0 0.00 22 7 24.14 48 0 0.00 38 6 13.64 DPP10 0 genome.wustl.edu 37 2 116534785 116534785 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 116534785 116534785 G A SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1235 p.S412N 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 46 0 0.00 20 10 33.33 120 1 0.82 70 19 21.35 COL11A1 0 genome.wustl.edu 37 1 103444272 103444272 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 103444272 103444272 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.2782 p.G928S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 85 0 0.00 19 20 51.28 55 0 0.00 12 13 52.00 CSHL1 0 genome.wustl.edu 37 17 61988529 61988529 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 61988529 61988529 G A SNP CSHL1 ENST00000558099 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors CSHL1 HGNC ENSG00000204414 tier1 - - 160 0 0.00 51 17 25.00 21 0 0.00 12 7 36.84 TNN 0 genome.wustl.edu 37 1 175063125 175063125 + Splice_Site SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 175063125 175063125 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known splice_site c.1325-1 e6-1 1.000 - - - no_errors TNN HGNC ENSG00000120332 tier1 - - 26 0 0.00 17 4 19.05 106 0 0.00 75 17 18.48 MYO5C 0 genome.wustl.edu 37 15 52517672 52517672 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 52517672 52517672 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.3265 p.E1089K 1.000 NULL 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 - - 68 0 0.00 27 14 34.15 112 0 0.00 70 19 21.35 ODF1 0 genome.wustl.edu 37 8 103573038 103573038 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 103573038 103573038 T A SNP ODF1 ENST00000285402 human ensembl 74_37 +1 known missense c.679 p.C227S 0.552 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC ENSG00000155087 tier1 - - 72 0 0.00 36 11 23.40 48 0 0.00 46 10 17.86 TGM1 0 genome.wustl.edu 37 14 24731502 24731502 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 24731502 24731502 G A SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known silent c.57 p.P19 0.901 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 tier1 - - 74 0 0.00 19 7 26.92 37 0 0.00 22 8 26.67 PLXNB2 0 genome.wustl.edu 37 22 50719043 50719043 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 50719043 50719043 G A SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.4050 p.F1350 0.146 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB2 HGNC ENSG00000196576 tier1 - - 76 0 0.00 31 4 11.43 53 0 0.00 30 12 27.91 SPATA31D1 0 genome.wustl.edu 37 9 84606023 84606023 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 84606023 84606023 C T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.638 p.S213L 0.002 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 133 0 0.00 52 17 24.64 64 0 0.00 28 12 30.00 RYR2 0 genome.wustl.edu 37 1 237863617 237863617 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 237863617 237863617 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.9211 p.E3071K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 76 0 0.00 40 10 20.00 142 0 0.00 66 14 17.50 CYP1A2 0 genome.wustl.edu 37 15 75045534 75045534 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 75045534 75045534 G A SNP CYP1A2 ENST00000343932 human ensembl 74_37 +1 known silent c.1176 p.R392 0.471 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 tier1 - - 97 0 0.00 37 11 22.92 146 0 0.00 83 31 27.19 DH3 0 genome.wustl.edu 37 16 20975047 20975047 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 20975047 20975047 C T SNP DH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10159 p.E3387K 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DH3 HGNC ENSG00000158486 tier1 - - 84 0 0.00 16 12 42.86 112 1 0.88 36 22 37.93 ZNF827 0 genome.wustl.edu 37 4 146824106 146824106 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 146824106 146824106 G A SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.305 p.S102F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 tier1 - - 52 0 0.00 18 5 21.74 44 0 0.00 22 5 18.52 SI1 0 genome.wustl.edu 37 20 48600634 48600634 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 48600634 48600634 C T SNP SI1 ENST00000244050 human ensembl 74_37 +1 known missense c.356 p.S119F 0.898 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SI1 HGNC ENSG00000124216 tier1 - - 48 0 0.00 21 17 44.74 69 0 0.00 37 30 44.78 FAM160A2 0 genome.wustl.edu 37 11 6239821 6239821 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 6239821 6239821 T C SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.1444 p.S482G 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 31 0 0.00 8 3 27.27 57 0 0.00 39 10 20.41 JAG1 0 genome.wustl.edu 37 20 10627606 10627606 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 10627606 10627606 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known silent c.1866 p.T622 0.328 pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 tier1 rs140624746 - 87 0 0.00 27 12 30.77 143 0 0.00 83 20 19.42 MRTO4 0 genome.wustl.edu 37 1 19584313 19584313 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 19584313 19584313 C T SNP MRTO4 ENST00000479559 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MRTO4 HGNC ENSG00000053372 tier1 - - 98 0 0.00 38 22 36.67 102 0 0.00 67 41 37.96 CLVS1 0 genome.wustl.edu 37 8 62212438 62212438 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 62212438 62212438 G A SNP CLVS1 ENST00000325897 human ensembl 74_37 +1 known missense c.52 p.G18R 1.000 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 tier1 - - 39 0 0.00 20 15 42.86 141 0 0.00 80 50 38.46 KIAA1324L 0 genome.wustl.edu 37 7 86509846 86509846 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 86509846 86509846 C T SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.3031 p.E1011K 1.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 tier1 - - 27 0 0.00 8 6 42.86 96 0 0.00 35 12 25.00 CHR1 0 genome.wustl.edu 37 2 175618352 175618352 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 175618352 175618352 C T SNP CHR1 ENST00000261007 human ensembl 74_37 -1 known silent c.732 p.L244 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHR1 HGNC ENSG00000138435 tier1 - - 88 0 0.00 36 6 14.29 87 0 0.00 52 13 20.00 KIAA1324L 0 genome.wustl.edu 37 7 86526931 86526931 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 86526931 86526931 G A SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.2576 p.T859I 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 tier1 - - 65 0 0.00 13 9 40.91 125 1 0.79 60 20 25.00 OR11L1 0 genome.wustl.edu 37 1 248004963 248004963 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 248004963 248004963 G A SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.236 p.P79L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 70 0 0.00 19 7 26.92 109 0 0.00 62 26 29.55 MIR411 0 genome.wustl.edu 37 14 101489702 101489702 + R SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 101489702 101489702 A C SNP MIR411 ENST00000362239 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR411 HGNC ENSG00000199109 tier1 - - 83 0 0.00 33 16 32.65 144 0 0.00 82 24 22.64 OR2L2 0 genome.wustl.edu 37 1 248202181 248202181 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 248202181 248202181 C T SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known silent c.612 p.I204 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 OR2L2 HGNC ENSG00000203663 tier1 - - 143 0 0.00 53 22 29.33 76 0 0.00 28 9 24.32 KLB 0 genome.wustl.edu 37 4 39448830 39448830 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 39448830 39448830 T C SNP KLB ENST00000257408 human ensembl 74_37 +1 known silent c.2484 p.T828 0.434 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 tier1 - - 108 0 0.00 41 17 29.31 49 0 0.00 37 5 11.90 PDCD11 0 genome.wustl.edu 37 10 105203055 105203055 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 105203055 105203055 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.5089 p.L1697 0.997 smart_HAT,pfscan_TPR-contain_dom pfam_Rbsml_prot_S1_R-bd_dom,pfam_Suf,superfamily_-bd_OB-fold,smart_R-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_R-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 tier1 - - 55 0 0.00 27 4 12.90 79 1 1.25 44 9 16.98 GCC2 0 genome.wustl.edu 37 2 109100731 109100731 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 109100731 109100731 C T SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known nonsense c.3577 p.Q1193* 0.992 NULL pfam_GRIP,superfamily_GRIP,superfamily_tR-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 tier1 - - 35 0 0.00 20 6 23.08 116 0 0.00 40 14 25.93 RNF169 0 genome.wustl.edu 37 11 74521252 74521252 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 74521252 74521252 G A SNP RNF169 ENST00000299563 human ensembl 74_37 +1 known silent c.600 p.E200 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 tier1 - - 29 0 0.00 22 12 35.29 153 0 0.00 74 47 38.84 BLOC1S1 0 genome.wustl.edu 37 12 56109896 56109896 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 56109896 56109896 C T SNP BLOC1S1 ENST00000548925 human ensembl 74_37 +1 known missense c.61 p.P21S 0.001 NULL pfam_GCN5L1 - no_errors BLOC1S1 HGNC ENSG00000135441 tier1 - - 63 0 0.00 25 4 13.79 37 0 0.00 28 6 17.65 ZNF271 0 genome.wustl.edu 37 18 32887828 32887828 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 32887828 32887828 G A SNP ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.577 - - - no_errors ZNF271 HGNC ENSG00000257267 tier1 - - 34 0 0.00 20 7 25.93 144 0 0.00 80 25 23.58 TET3 0 genome.wustl.edu 37 2 74274129 74274129 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 74274129 74274129 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.680 p.A227V 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 80 0 0.00 34 7 17.07 73 1 1.35 40 11 21.57 CADPS 0 genome.wustl.edu 37 3 62570972 62570972 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 62570972 62570972 G A SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.1465 p.P489S 1.000 superfamily_C2_dom pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 110 1 0.90 33 55 62.50 70 0 0.00 40 77 65.81 ADCY8 0 genome.wustl.edu 37 8 131833655 131833655 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 131833655 131833655 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2687 p.G896E 1.000 NULL 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 - - 66 0 0.00 25 9 25.71 133 0 0.00 92 12 11.43 FMO2 0 genome.wustl.edu 37 1 171174662 171174662 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 171174662 171174662 C T SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known missense c.1072 p.P358S 1.000 pfam_Flavin_mOase-like pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 tier1 - - 45 0 0.00 23 8 25.81 126 0 0.00 68 26 27.66 PDE4A 0 genome.wustl.edu 37 19 10572584 10572584 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 10572584 10572584 C T SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.1652 p.T551I 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 tier1 - - 154 0 0.00 67 24 26.09 60 0 0.00 27 14 34.15 PSD 0 genome.wustl.edu 37 10 104171537 104171537 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 104171537 104171537 C T SNP PSD ENST00000020673 human ensembl 74_37 -1 known silent c.1869 p.Q623 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 tier1 - - 79 0 0.00 26 13 33.33 114 0 0.00 85 24 22.02 ANK2 0 genome.wustl.edu 37 4 114203899 114203899 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 114203899 114203899 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.1950 p.N650 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 ANK2 HGNC ENSG00000145362 tier1 - - 65 0 0.00 17 12 41.38 64 0 0.00 44 16 26.67 ZNF528 0 genome.wustl.edu 37 19 52919608 52919608 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 52919608 52919608 C T SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known silent c.1503 p.V501 0.231 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 ZNF528 HGNC ENSG00000167555 tier1 - - 46 0 0.00 14 5 26.32 100 0 0.00 50 12 19.35 ENSG00000222961 0 genome.wustl.edu 37 5 32379556 32379556 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 32379556 32379556 C T SNP ENSG00000222961 ENST00000411029 human ensembl 74_37 -1 novel rna NULL NULL 1.000 - - - no_errors AC008949.1 Clone_based_ensembl_gene ENSG00000222961 tier1 - - 97 0 0.00 38 30 44.12 97 0 0.00 49 44 47.31 ZNF334 0 genome.wustl.edu 37 20 45131081 45131081 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 45131081 45131081 C T SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known silent c.897 p.R299 0.998 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 ZNF334 HGNC ENSG00000198185 tier1 - - 88 0 0.00 69 9 11.54 106 0 0.00 88 24 21.43 ZNF727 0 genome.wustl.edu 37 7 63538024 63538024 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 63538024 63538024 T C SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known silent c.597 p.S199 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 ZNF727 HGNC ENSG00000257482 tier1 - - 31 0 0.00 19 3 13.64 35 0 0.00 29 4 12.12 SRCAP 0 genome.wustl.edu 37 16 30734989 30734989 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 30734989 30734989 T C SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.4244 p.M1415T 0.792 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_D-bd_motif,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 - - 49 0 0.00 23 5 17.86 91 0 0.00 49 22 30.99 VRK3 0 genome.wustl.edu 37 19 50512498 50512498 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 50512498 50512498 G A SNP VRK3 ENST00000316763 human ensembl 74_37 -1 known missense c.284 p.S95F 0.230 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK3 HGNC ENSG00000105053 tier1 - - 98 0 0.00 56 9 13.85 111 0 0.00 60 23 27.71 ST18 0 genome.wustl.edu 37 8 53126799 53126799 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 53126799 53126799 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.19 p.D7N 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 74 0 0.00 38 5 11.63 118 0 0.00 91 18 16.51 HS3ST3A1 0 genome.wustl.edu 37 17 13400075 13400075 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 13400075 13400075 G A SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known silent c.660 p.F220 0.659 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 tier1 rs146268308 GMAF=0.0005 53 0 0.00 23 5 17.86 23 0 0.00 15 3 16.67 HIST1H3B 0 genome.wustl.edu 37 6 26032185 26032185 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 26032185 26032185 C T SNP HIST1H3B ENST00000244661 human ensembl 74_37 -1 known missense c.104 p.G35D 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 - - 69 0 0.00 28 23 45.10 15 0 0.00 11 8 42.11 V2 0 genome.wustl.edu 37 11 20072841 20072841 + Silent SNP G G C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 20072841 20072841 G C SNP V2 ENST00000396087 human ensembl 74_37 +1 known silent c.4512 p.P1504 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors V2 HGNC ENSG00000166833 tier1 - - 80 0 0.00 25 12 32.43 126 0 0.00 68 23 25.27 KLHL13 0 genome.wustl.edu 37 X 117043924 117043924 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 117043924 117043924 G A SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known missense c.715 p.P239S 1.000 pfam_BACK,smart_BACK,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 - - 29 0 0.00 10 5 33.33 62 0 0.00 19 27 58.70 PDE3B 0 genome.wustl.edu 37 11 14793513 14793513 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 14793513 14793513 T C SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.1009 p.W337R 0.996 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 tier1 - - 86 0 0.00 43 11 20.37 99 0 0.00 40 18 31.03 TSKS 0 genome.wustl.edu 37 19 50266372 50266372 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 50266372 50266372 C T SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.133 p.G45R 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 tier1 - - 64 0 0.00 41 11 21.15 88 0 0.00 59 15 20.00 ATG13 0 genome.wustl.edu 37 11 46681022 46681022 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 46681022 46681022 C T SNP ATG13 ENST00000312040 human ensembl 74_37 +1 known missense c.776 p.S259F 1.000 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 tier1 - - 65 0 0.00 34 8 19.05 96 1 1.03 69 25 26.60 PLEKHG4B 0 genome.wustl.edu 37 5 169651 169651 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 169651 169651 G A SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.2605 p.E869K 0.997 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 tier1 - - 106 1 0.93 49 24 32.88 82 0 0.00 61 28 31.46 ATAD5 0 genome.wustl.edu 37 17 29205036 29205036 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 29205036 29205036 G A SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.3934 p.D1312N 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 tier1 - - 77 0 0.00 37 16 29.63 140 0 0.00 67 21 23.60 CXorf22 0 genome.wustl.edu 37 X 35944249 35944249 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 35944249 35944249 C T SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.365 p.S122L 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 tier1 - - 56 0 0.00 17 21 55.26 51 0 0.00 12 18 60.00 PTK2 0 genome.wustl.edu 37 8 141745469 141745469 + Missense_Mutation SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 141745469 141745469 A C SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.1911 p.N637K 0.997 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_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 tier1 - - 81 0 0.00 85 13 13.27 166 0 0.00 124 20 13.79 COL5A3 0 genome.wustl.edu 37 19 10083624 10083624 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 10083624 10083624 G A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.3745 p.P1249S 0.920 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 - - 154 0 0.00 62 16 20.51 65 0 0.00 46 17 26.98 MFAP1 0 genome.wustl.edu 37 15 44102103 44102103 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 44102103 44102103 C T SNP MFAP1 ENST00000267812 human ensembl 74_37 -1 known silent c.897 p.K299 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 tier1 - - 97 0 0.00 25 13 34.21 127 0 0.00 68 26 27.37 101928503 0 genome.wustl.edu 37 17 15468850 15468850 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 15468850 15468850 G A SNP 101928503 ENST00000312127 human ensembl 74_37 -1 known silent c.729 p.I243 1.000 NULL NULL - no_errors CDRT1 Uniprot_gn ENSG00000181464 tier1 - - 245 0 0.00 114 21 15.56 142 0 0.00 117 17 12.69 UAP1L1 0 genome.wustl.edu 37 9 139975207 139975207 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 139975207 139975207 C T SNP UAP1L1 ENST00000409858 human ensembl 74_37 +1 known silent c.1245 p.A415 0.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 tier1 - - 138 0 0.00 66 15 18.52 83 0 0.00 67 17 20.24 NRIP1 0 genome.wustl.edu 37 21 16337333 16337333 + Missense_Mutation SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 21 16337333 16337333 A T SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.3181 p.L1061M 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 tier1 - - 95 0 0.00 42 7 14.29 120 0 0.00 55 17 23.61 YAF2 0 genome.wustl.edu 37 12 42554627 42554627 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 42554627 42554627 G A SNP YAF2 ENST00000442791 human ensembl 74_37 -1 known missense c.379 p.P127S 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC ENSG00000015153 tier1 - - 63 0 0.00 29 9 23.68 120 0 0.00 63 12 16.00 WDR87 0 genome.wustl.edu 37 19 38383645 38383645 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 38383645 38383645 G A SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.2698 p.L900F 0.000 NULL 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 - - 50 0 0.00 20 12 37.50 113 0 0.00 71 28 28.00 LRFN5 0 genome.wustl.edu 37 14 42356729 42356729 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 42356729 42356729 G A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.901 p.G301R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 49 0 0.00 24 8 25.00 130 0 0.00 79 21 21.00 ITIH2 0 genome.wustl.edu 37 10 7762847 7762847 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 7762847 7762847 G A SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.659 p.G220E 0.994 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 tier1 - - 69 0 0.00 20 10 32.26 132 1 0.75 69 25 26.60 SLCO1A2 0 genome.wustl.edu 37 12 21450399 21450399 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 21450399 21450399 G A SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known silent c.1014 p.F338 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 tier1 - - 43 0 0.00 15 9 37.50 91 0 0.00 68 27 28.42 FMNL2 0 genome.wustl.edu 37 2 153417452 153417452 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 153417452 153417452 C T SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.499 p.P167S 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 36 0 0.00 11 7 36.84 58 0 0.00 27 8 22.86 OR52E8 0 genome.wustl.edu 37 11 5878606 5878606 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 5878606 5878606 G A SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known silent c.327 p.F109 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 tier1 - - 48 0 0.00 18 13 41.94 100 0 0.00 37 14 27.45 EIF2AK1 0 genome.wustl.edu 37 7 6068553 6068553 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 6068553 6068553 C T SNP EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known silent c.1443 p.G481 0.974 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 EIF2AK1 HGNC ENSG00000086232 tier1 - - 58 0 0.00 23 15 39.47 84 0 0.00 41 28 40.58 KCNV1 0 genome.wustl.edu 37 8 110984547 110984547 + Missense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 110984547 110984547 C A SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.931 p.V311F 1.000 pfam_Ion_trans_dom pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 45 0 0.00 15 7 31.82 50 0 0.00 49 6 10.91 RNF112 0 genome.wustl.edu 37 17 19316653 19316653 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 19316653 19316653 G A SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel missense c.649 p.G217S 0.793 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 tier1 - - 59 0 0.00 30 23 43.40 16 0 0.00 10 7 41.18 AQP12A 0 genome.wustl.edu 37 2 241631582 241631582 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 241631582 241631582 G A SNP AQP12A ENST00000429564 human ensembl 74_37 +1 known missense c.251 p.G84E 0.830 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_MIP pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ENSG00000184945 tier1 - - 185 0 0.00 73 18 19.78 37 0 0.00 29 6 17.14 OR51F1 0 genome.wustl.edu 37 11 4790811 4790811 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 4790811 4790811 C T SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.358 p.E120K 0.723 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 OR51F1 HGNC ENSG00000188069 tier1 - - 18 0 0.00 8 5 38.46 96 0 0.00 51 14 21.54 STX3 0 genome.wustl.edu 37 11 59540716 59540716 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 59540716 59540716 G A SNP STX3 ENST00000337979 human ensembl 74_37 +1 known silent c.63 p.A21 0.989 NULL pfam_Syntaxin_N,pfam_T_SRE_dom,superfamily_t-SRE,smart_Syntaxin_N,smart_T_SRE_dom,pfscan_T_SRE_dom - no_errors STX3 HGNC ENSG00000166900 tier1 - - 72 0 0.00 32 12 27.27 107 0 0.00 56 12 17.39 GLI1 0 genome.wustl.edu 37 12 57859404 57859404 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 57859404 57859404 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known silent c.549 p.L183 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 33 0 0.00 6 3 33.33 117 0 0.00 52 28 35.00 POLQ 0 genome.wustl.edu 37 3 121203989 121203989 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 121203989 121203989 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.5672 p.P1891L 0.981 NULL pfam_D-dir_D_pol_A_palm_dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_D-dir_D_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_D_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 61 0 0.00 19 24 55.81 123 0 0.00 63 40 38.46 PTGFRN 0 genome.wustl.edu 37 1 117532884 117532884 + R SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 117532884 117532884 T A SNP PTGFRN ENST00000497385 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTGFRN HGNC ENSG00000134247 tier1 - - 58 0 0.00 16 3 15.79 154 1 0.65 53 23 29.87 AFF2 0 genome.wustl.edu 37 X 147744270 147744270 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 147744270 147744270 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.1022 p.T341I 0.934 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 75 0 0.00 20 26 56.52 71 0 0.00 22 30 56.60 SLC25A48 0 genome.wustl.edu 37 5 135207469 135207469 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 135207469 135207469 G A SNP SLC25A48 ENST00000274513 human ensembl 74_37 +1 known silent c.741 p.G247 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A48 HGNC ENSG00000145832 tier1 - - 56 0 0.00 12 14 53.85 57 0 0.00 23 5 17.86 TTLL8 0 genome.wustl.edu 37 22 50485695 50485695 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 50485695 50485695 G A SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known missense c.295 p.L99F 0.982 NULL pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 tier1 - - 69 0 0.00 33 8 19.51 111 0 0.00 61 17 21.79 HERC1 0 genome.wustl.edu 37 15 63955209 63955209 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 63955209 63955209 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.8875 p.P2959S 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 66 0 0.00 21 10 32.26 118 0 0.00 66 18 21.18 SLC26A10 0 genome.wustl.edu 37 12 58015566 58015566 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 58015566 58015566 G A SNP SLC26A10 ENST00000320442 human ensembl 74_37 +1 known missense c.649 p.E217K 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 tier1 - - 17 0 0.00 9 4 30.77 31 0 0.00 21 13 38.24 OMG 0 genome.wustl.edu 37 17 29622771 29622771 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 29622771 29622771 G A SNP OMG ENST00000247271 human ensembl 74_37 -1 known silent c.579 p.L193 0.958 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMG HGNC ENSG00000126861 tier1 - - 100 0 0.00 49 14 22.22 127 0 0.00 88 17 16.19 BAIAP2L1 0 genome.wustl.edu 37 7 97949598 97949598 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 97949598 97949598 A G SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known missense c.227 p.I76T 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 tier1 - - 54 0 0.00 18 8 30.77 127 0 0.00 48 23 32.39 MCF2 0 genome.wustl.edu 37 X 138678842 138678842 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 138678842 138678842 C T SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.2578 p.D860N 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 tier1 - - 56 0 0.00 21 16 43.24 46 0 0.00 25 19 43.18 ACACB 0 genome.wustl.edu 37 12 109634872 109634872 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 109634872 109634872 T C SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.2541 p.I847 0.941 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 59 0 0.00 24 4 14.29 72 0 0.00 31 6 16.22 MAPK10 0 genome.wustl.edu 37 4 87023134 87023134 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 87023134 87023134 C T SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known missense c.477 p.M159I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 tier1 - - 45 0 0.00 13 5 27.78 119 0 0.00 53 28 34.57 SWT1 0 genome.wustl.edu 37 1 185143987 185143987 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 185143987 185143987 C T SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known silent c.708 p.I236 0.525 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 tier1 - - 90 0 0.00 41 8 16.33 156 0 0.00 79 33 29.46 PI4KA 0 genome.wustl.edu 37 22 21084217 21084217 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 21084217 21084217 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.4371 p.P1457 0.812 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 71 0 0.00 30 7 18.92 76 0 0.00 52 20 27.78 RAB11FIP1 0 genome.wustl.edu 37 8 37729196 37729196 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 37729196 37729196 G A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.3124 p.P1042S 0.020 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 tier1 - - 49 0 0.00 22 10 31.25 79 0 0.00 40 19 32.20 GCN1L1 0 genome.wustl.edu 37 12 120580482 120580482 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 120580482 120580482 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.5658 p.L1886 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 - - 98 0 0.00 34 10 22.73 52 0 0.00 33 9 21.43 ZNF595 0 genome.wustl.edu 37 4 86773 86773 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 86773 86773 C T SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.144 - - - no_errors ZNF595 HGNC ENSG00000197701 tier1 - - 28 0 0.00 24 4 14.29 36 0 0.00 22 16 42.11 TMEM255B 0 genome.wustl.edu 37 13 114514803 114514803 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 13 114514803 114514803 C T SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.908 p.P303L 0.023 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 tier1 - - 159 0 0.00 56 28 33.33 52 0 0.00 22 9 29.03 TCTN2 0 genome.wustl.edu 37 12 124163786 124163786 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 124163786 124163786 C T SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known missense c.514 p.P172S 1.000 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 tier1 - - 97 0 0.00 42 6 12.50 106 0 0.00 64 17 20.99 ATF7IP2 0 genome.wustl.edu 37 16 10527500 10527500 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 10527500 10527500 G A SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known silent c.954 p.L318 0.994 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 tier1 - - 82 0 0.00 33 13 28.26 166 0 0.00 43 28 39.44 RAP1GAP2 0 genome.wustl.edu 37 17 2908721 2908721 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 2908721 2908721 C T SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.1259 p.P420L 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 tier1 - - 66 0 0.00 31 12 27.91 97 1 1.02 73 21 22.34 PNPT1 0 genome.wustl.edu 37 2 55887311 55887311 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 55887311 55887311 T C SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known missense c.1265 p.N422S 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_R-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_R-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_R-bd_bac/org-type,superfamily_-bd_OB-fold,smart_KH_dom,smart_R-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_R-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 tier1 - - 191 1 0.52 71 25 26.04 98 0 0.00 53 18 25.35 PXDN 0 genome.wustl.edu 37 2 1658278 1658278 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 1658278 1658278 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1840 p.P614S 1.000 NULL 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 - - 47 0 0.00 15 4 21.05 152 0 0.00 64 21 24.71 AP3B2 0 genome.wustl.edu 37 15 83345378 83345378 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 83345378 83345378 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known silent c.1500 p.A500 0.977 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,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 - - 51 0 0.00 22 6 21.43 121 0 0.00 60 18 23.08 TCF7L1 0 genome.wustl.edu 37 2 85510652 85510652 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 85510652 85510652 C T SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known missense c.476 p.P159L 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 tier1 - - 78 0 0.00 28 7 20.00 100 0 0.00 83 24 22.43 NF2 0 genome.wustl.edu 37 22 30032850 30032850 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 30032850 30032850 C T SNP NF2 ENST00000338641 human ensembl 74_37 +1 known silent c.225 p.L75 1.000 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 tier1 - - 54 0 0.00 26 14 35.00 136 0 0.00 86 26 23.21 S100A4 0 genome.wustl.edu 37 1 153516190 153516190 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 153516190 153516190 G A SNP S100A4 ENST00000468373 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors S100A4 HGNC ENSG00000196154 tier1 - - 67 0 0.00 37 6 13.95 92 0 0.00 44 8 15.38 RNF111 0 genome.wustl.edu 37 15 59323147 59323147 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 59323147 59323147 C T SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known silent c.126 p.P42 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 - - 51 0 0.00 39 5 11.36 156 0 0.00 91 28 23.53 ZNF599 0 genome.wustl.edu 37 19 35251226 35251226 + Missense_Mutation SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 35251226 35251226 A C SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known missense c.480 p.D160E 0.001 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 ZNF599 HGNC ENSG00000153896 tier1 - - 112 0 0.00 46 13 22.03 116 0 0.00 82 30 26.79 PSEN2 0 genome.wustl.edu 37 1 227071405 227071405 + Splice_Site SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 227071405 227071405 G A SNP PSEN2 ENST00000391872 human ensembl 74_37 +1 known splice_site c.241-1 e3-1 1.000 - - - no_errors PSEN2 HGNC ENSG00000143801 tier1 - - 42 0 0.00 12 6 31.58 108 0 0.00 73 13 15.12 TOR1A 0 genome.wustl.edu 37 9 132576327 132576327 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 132576327 132576327 G A SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.923 p.P308L 1.000 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 tier1 - - 48 0 0.00 28 9 24.32 143 0 0.00 110 24 17.91 HERC2 0 genome.wustl.edu 37 15 28474893 28474893 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 28474893 28474893 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.4910 p.S1637N 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 152 0 0.00 78 25 23.81 31 0 0.00 16 5 23.81 MKRN3 0 genome.wustl.edu 37 15 23810931 23810931 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 23810931 23810931 T C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.2 p.M1T 0.983 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 95 0 0.00 36 14 28.00 29 0 0.00 15 5 25.00 NHS 0 genome.wustl.edu 37 X 17739680 17739680 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 17739680 17739680 C T SNP NHS ENST00000380060 human ensembl 74_37 +1 known silent c.972 p.L324 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 tier1 - - 44 0 0.00 12 17 58.62 46 0 0.00 16 23 58.97 KCNU1 0 genome.wustl.edu 37 8 36644847 36644847 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 36644847 36644847 C T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known silent c.219 p.I73 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 - - 48 0 0.00 34 11 24.44 103 0 0.00 60 16 21.05 PKHD1L1 0 genome.wustl.edu 37 8 110474001 110474001 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 110474001 110474001 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.7247 p.G2416E 1.000 NULL 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 - - 60 0 0.00 52 5 8.77 133 0 0.00 79 9 10.23 COL4A4 0 genome.wustl.edu 37 2 227954652 227954652 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 227954652 227954652 T C SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.1391 p.N464S 0.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 tier1 - - 57 0 0.00 17 7 29.17 57 1 1.72 33 6 15.38 KIF7 0 genome.wustl.edu 37 15 90188623 90188623 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 90188623 90188623 C T SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.1982 p.R661K 0.039 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 tier1 - - 109 1 0.91 49 11 18.33 71 0 0.00 60 12 16.67 SPAG6 0 genome.wustl.edu 37 10 22680841 22680841 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 22680841 22680841 C T SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known nonsense c.1417 p.Q473* 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 tier1 - - 61 0 0.00 26 8 23.53 137 0 0.00 50 13 20.63 PCDHGC5 0 genome.wustl.edu 37 5 140869978 140869978 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 140869978 140869978 C T SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.1171 p.P391S 0.533 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 tier1 - - 41 0 0.00 10 7 41.18 169 0 0.00 52 42 44.68 SMG7 0 genome.wustl.edu 37 1 183519983 183519983 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 183519983 183519983 C T SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known silent c.3093 p.S1031 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 - - 60 0 0.00 31 15 32.61 136 0 0.00 100 38 27.34 CCDC178 0 genome.wustl.edu 37 18 30926242 30926242 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 30926242 30926242 C T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.591 p.M197I 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 54 0 0.00 19 8 29.63 82 0 0.00 41 14 25.45 MORC1 0 genome.wustl.edu 37 3 108778673 108778673 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 108778673 108778673 C T SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known silent c.1011 p.K337 0.007 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 52 0 0.00 29 8 21.62 100 0 0.00 82 16 16.00 APOB 0 genome.wustl.edu 37 2 21246479 21246479 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 21246479 21246479 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.2522 p.G841E 0.966 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell 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 - - 65 0 0.00 31 9 22.50 137 0 0.00 79 13 14.13 NLRX1 0 genome.wustl.edu 37 11 119043613 119043613 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 119043613 119043613 C T SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known silent c.144 p.A48 0.937 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 tier1 - - 49 0 0.00 25 15 37.50 111 0 0.00 51 14 21.54 EIF2AK4 0 genome.wustl.edu 37 15 40289171 40289171 + Missense_Mutation SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 40289171 40289171 G T SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.2773 p.D925Y 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,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 tier1 - - 65 0 0.00 36 6 14.29 99 0 0.00 84 11 11.58 MAGEB2 0 genome.wustl.edu 37 X 30236748 30236748 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 30236748 30236748 G A SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known silent c.51 p.K17 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 tier1 - - 77 0 0.00 16 9 36.00 24 0 0.00 10 11 52.38 GALNTL6 0 genome.wustl.edu 37 4 173734807 173734807 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 173734807 173734807 G A SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.856 p.E286K 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 tier1 - - 54 0 0.00 19 8 29.63 98 0 0.00 49 19 27.94 TENM1 0 genome.wustl.edu 37 X 123637445 123637445 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 123637445 123637445 G A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.3410 p.S1137F 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 - - 52 0 0.00 14 11 44.00 69 0 0.00 37 25 40.32 UBN2 0 genome.wustl.edu 37 7 138968887 138968887 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 138968887 138968887 C T SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known missense c.3236 p.S1079F 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 tier1 - - 112 0 0.00 36 5 12.20 88 0 0.00 35 13 27.08 RXRB 0 genome.wustl.edu 37 6 33162790 33162790 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 33162790 33162790 G A SNP RXRB ENST00000374680 human ensembl 74_37 -1 known silent c.1386 p.V462 0.995 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4,prints_Retinoic_acid_rcpt 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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 tier1 - - 43 0 0.00 12 4 25.00 51 0 0.00 47 8 14.55 PEAK1 0 genome.wustl.edu 37 15 77407240 77407240 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 77407240 77407240 A G SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.4499 p.L1500P 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 tier1 - - 38 0 0.00 15 7 31.82 84 0 0.00 57 14 19.72 ATP8B1 0 genome.wustl.edu 37 18 55328440 55328440 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 55328440 55328440 G A SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known silent c.2673 p.I891 0.477 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP8B1 HGNC ENSG00000081923 tier1 - - 50 0 0.00 18 5 21.74 82 0 0.00 36 6 14.29 TENM2 0 genome.wustl.edu 37 5 167689283 167689283 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 167689283 167689283 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.7793 p.S2598F 0.006 superfamily_Cytokine_IL1-like pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 15 0 0.00 10 8 44.44 50 0 0.00 23 19 45.24 OR5P2 0 genome.wustl.edu 37 11 7818216 7818216 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 7818216 7818216 C T SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known missense c.274 p.G92R 0.977 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P2 HGNC ENSG00000183303 tier1 - - 65 0 0.00 32 5 13.51 119 0 0.00 72 14 16.28 ENSG00000263826 0 genome.wustl.edu 37 3 186501285 186501285 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 186501285 186501285 G A SNP ENSG00000263826 ENST00000577781 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-573D15.9 Clone_based_vega_gene ENSG00000263826 tier1 - - 72 0 0.00 19 20 51.28 101 0 0.00 58 29 33.33 PRUNE2 0 genome.wustl.edu 37 9 79320442 79320442 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 79320442 79320442 A G SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.5671 p.W1891R 0.002 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 36 0 0.00 34 6 15.00 161 0 0.00 94 11 10.48 TRO 0 genome.wustl.edu 37 X 54950843 54950843 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 54950843 54950843 C T SNP TRO ENST00000492142 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TRO HGNC ENSG00000067445 tier1 - - 22 0 0.00 6 11 64.71 80 0 0.00 31 25 44.64 FSHR 0 genome.wustl.edu 37 2 49190277 49190277 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 49190277 49190277 G A SNP FSHR ENST00000406846 human ensembl 74_37 -1 known silent c.1683 p.I561 0.280 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 54 0 0.00 11 5 31.25 90 1 1.10 48 15 23.81 MAGEB18 0 genome.wustl.edu 37 X 26157607 26157607 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 26157607 26157607 C T SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.505 p.P169S 0.932 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 tier1 - - 26 0 0.00 7 9 56.25 80 0 0.00 33 21 38.89 TP53 0 genome.wustl.edu 37 17 7578527 7578527 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 7578527 7578527 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.403 p.C135R 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 41 0 0.00 13 15 53.57 80 0 0.00 42 36 46.15 CHFR 0 genome.wustl.edu 37 12 133446393 133446393 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 133446393 133446393 C T SNP CHFR ENST00000266880 human ensembl 74_37 -1 known missense c.431 p.G144E 0.035 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 tier1 - - 33 0 0.00 7 4 36.36 89 0 0.00 70 11 13.58 TGM3 0 genome.wustl.edu 37 20 2293563 2293563 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 2293563 2293563 G A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.560 p.S187N 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 tier1 - - 78 0 0.00 28 11 28.21 66 0 0.00 27 11 28.95 RRP12 0 genome.wustl.edu 37 10 99125819 99125819 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 99125819 99125819 G A SNP RRP12 ENST00000487612 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RRP12 HGNC ENSG00000052749 tier1 - - 54 0 0.00 13 5 27.78 157 0 0.00 88 30 25.42 CABP4 0 genome.wustl.edu 37 11 67220225 67220225 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 67220225 67220225 G A SNP CABP4 ENST00000542025 human ensembl 74_37 +1 putative rna NULL NULL 0.006 - - - no_errors CABP4 HGNC ENSG00000175544 tier1 - - 39 0 0.00 16 4 20.00 109 0 0.00 97 21 17.50 EPHA8 0 genome.wustl.edu 37 1 22915715 22915715 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 22915715 22915715 C T SNP EPHA8 ENST00000374644 human ensembl 74_37 +1 known missense c.1331 p.S444F 0.294 NULL pfam_Ephrin_rcpt_lig-bd_dom,pfam_Fibronectin_type3,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EPHA8 HGNC ENSG00000070886 tier1 - - 134 0 0.00 55 31 36.05 78 0 0.00 31 21 40.38 XIRP2 0 genome.wustl.edu 37 2 168107021 168107021 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 168107021 168107021 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.9119 p.G3040E 0.768 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 34 0 0.00 17 4 19.05 117 1 0.85 83 19 18.63 PRR16 0 genome.wustl.edu 37 5 120021756 120021756 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 120021756 120021756 C T SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known silent c.267 p.A89 0.583 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 tier1 - - 37 0 0.00 14 14 50.00 85 0 0.00 30 23 43.40 CHRDL2 0 genome.wustl.edu 37 11 74415582 74415582 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 74415582 74415582 C T SNP CHRDL2 ENST00000263671 human ensembl 74_37 -1 known missense c.700 p.G234R 0.014 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL2 HGNC ENSG00000054938 tier1 - - 82 0 0.00 35 17 32.69 74 0 0.00 38 18 32.14 C9orf72 0 genome.wustl.edu 37 9 27566980 27566980 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 27566980 27566980 G A SNP C9orf72 ENST00000380003 human ensembl 74_37 -1 known missense c.139 p.P47S 1.000 NULL NULL - no_errors C9orf72 HGNC ENSG00000147894 tier1 - - 46 0 0.00 22 8 26.67 155 0 0.00 52 18 25.71 DPM2 0 genome.wustl.edu 37 9 130698047 130698047 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 130698047 130698047 G A SNP DPM2 ENST00000314392 human ensembl 74_37 -1 known missense c.209 p.S70F 0.960 pfam_DPM2 pfam_DPM2 - no_errors DPM2 HGNC ENSG00000136908 tier1 - - 40 0 0.00 13 5 27.78 89 0 0.00 62 14 18.42 HRASLS5 0 genome.wustl.edu 37 11 63235916 63235916 + Nonsense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 63235916 63235916 C A SNP HRASLS5 ENST00000301790 human ensembl 74_37 -1 known nonsense c.397 p.G133* 1.000 NULL pfam_LRAT-like_dom - no_errors HRASLS5 HGNC ENSG00000168004 tier1 - - 61 0 0.00 20 14 38.89 111 0 0.00 56 17 23.29 QDPR 0 genome.wustl.edu 37 4 17503362 17503362 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 17503362 17503362 G A SNP QDPR ENST00000281243 human ensembl 74_37 -1 known missense c.416 p.A139V 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR - no_errors QDPR HGNC ENSG00000151552 tier1 - - 69 0 0.00 27 6 18.18 101 0 0.00 70 12 14.63 SERPI4 0 genome.wustl.edu 37 14 95034521 95034521 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 95034521 95034521 T C SNP SERPI4 ENST00000298841 human ensembl 74_37 +1 known missense c.979 p.Y327H 0.037 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI4 HGNC ENSG00000100665 tier1 - - 79 0 0.00 39 6 13.33 64 0 0.00 36 16 30.77 MFN1 0 genome.wustl.edu 37 3 179107853 179107853 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 179107853 179107853 G A SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.2074 p.E692K 1.000 pfam_Fzo/mitofusin_HR2 pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 77 0 0.00 55 9 14.06 117 0 0.00 86 25 22.52 BBX 0 genome.wustl.edu 37 3 107474465 107474465 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 107474465 107474465 G A SNP BBX ENST00000325805 human ensembl 74_37 +1 known silent c.846 p.Q282 0.972 pfam_TF_HMG_box_BBX_DUF2028 pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 tier1 - - 61 0 0.00 48 18 27.27 112 0 0.00 79 42 34.71 CNTP4 0 genome.wustl.edu 37 16 76573705 76573705 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 76573705 76573705 C T SNP CNTP4 ENST00000307431 human ensembl 74_37 +1 known missense c.3307 p.H1103Y 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,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 - - 63 0 0.00 19 9 32.14 119 1 0.83 49 16 24.62 ABCC12 0 genome.wustl.edu 37 16 48162475 48162475 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 48162475 48162475 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known silent c.1410 p.E470 0.034 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like 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 - - 103 0 0.00 41 10 19.61 121 0 0.00 42 19 31.15 CYP4Z1 0 genome.wustl.edu 37 1 47534386 47534386 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 47534386 47534386 C T SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known silent c.270 p.F90 0.007 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 tier1 - - 161 0 0.00 82 21 20.39 139 0 0.00 83 27 24.55 NLRP12 0 genome.wustl.edu 37 19 54313970 54313970 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 54313970 54313970 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.943 p.E315K 0.995 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 NLRP12 HGNC ENSG00000142405 tier1 - - 66 0 0.00 17 8 32.00 109 0 0.00 57 14 19.72 RPL17-C18orf32 0 genome.wustl.edu 37 18 47015764 47015764 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 47015764 47015764 G A SNP RPL17-C18orf32 ENST00000584895 human ensembl 74_37 -1 known missense c.472 p.P158S 1.000 NULL pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc - no_errors RPL17-C18orf32 HGNC ENSG00000215472 tier1 - - 140 0 0.00 62 13 17.33 36 0 0.00 33 12 26.67 DH8 0 genome.wustl.edu 37 6 38862525 38862525 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 38862525 38862525 C T SNP DH8 ENST00000359357 human ensembl 74_37 +1 known nonsense c.7981 p.R2661* 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 rs149070832 - 65 0 0.00 15 14 48.28 93 0 0.00 41 31 43.06 PROK2 0 genome.wustl.edu 37 3 71830639 71830639 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 71830639 71830639 G A SNP PROK2 ENST00000295619 human ensembl 74_37 -1 known silent c.201 p.S67 1.000 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK2 HGNC ENSG00000163421 tier1 - - 66 0 0.00 29 22 43.14 72 0 0.00 40 24 37.50 SLC12A7 0 genome.wustl.edu 37 5 1075560 1075560 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 1075560 1075560 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1893 p.F631 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 81 0 0.00 46 5 9.80 46 0 0.00 37 6 13.95 ZNF521 0 genome.wustl.edu 37 18 22806847 22806847 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 22806847 22806847 G A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.1035 p.S345 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 42 0 0.00 21 6 22.22 108 0 0.00 78 17 17.71 CECR2 0 genome.wustl.edu 37 22 17976556 17976556 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 17976556 17976556 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.277 p.E93K 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 74 0 0.00 37 13 26.00 90 0 0.00 39 13 25.00 GRM8 0 genome.wustl.edu 37 7 126173686 126173686 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 126173686 126173686 C T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1750 p.A584T 1.000 pfscan_GPCR_3_C 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 - - 46 0 0.00 22 10 31.25 104 0 0.00 32 29 47.54 FAM160B1 0 genome.wustl.edu 37 10 116606433 116606433 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 116606433 116606433 C T SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.1514 p.P505L 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 tier1 - - 47 0 0.00 16 9 36.00 128 0 0.00 64 35 35.35 CLVS1 0 genome.wustl.edu 37 8 62212557 62212557 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 62212557 62212557 G A SNP CLVS1 ENST00000325897 human ensembl 74_37 +1 known silent c.171 p.R57 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 tier1 - - 38 0 0.00 34 7 16.67 147 0 0.00 87 13 13.00 ITPR2 0 genome.wustl.edu 37 12 26634139 26634139 + Missense_Mutation SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 26634139 26634139 A T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.6048 p.D2016E 0.882 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 73 0 0.00 22 8 26.67 104 0 0.00 70 25 26.32 PIN1P1 0 genome.wustl.edu 37 1 70385538 70385538 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 70385538 70385538 G A SNP PIN1P1 ENST00000412108 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PIN1P1 HGNC ENSG00000229359 tier1 - - 64 0 0.00 17 21 55.26 15 0 0.00 12 6 33.33 MYC 0 genome.wustl.edu 37 8 128750683 128750683 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 128750683 128750683 C T SNP MYC ENST00000377970 human ensembl 74_37 +1 known missense c.220 p.P74S 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 tier1 - - 112 0 0.00 45 33 42.31 29 0 0.00 19 12 38.71 TMC3 0 genome.wustl.edu 37 15 81654619 81654619 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 81654619 81654619 G A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known silent c.336 p.L112 0.009 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 tier1 - - 54 0 0.00 23 10 30.30 117 0 0.00 67 24 26.37 DSG2 0 genome.wustl.edu 37 18 29118894 29118894 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 29118894 29118894 G A SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.1832 p.G611E 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 tier1 - - 36 0 0.00 14 6 30.00 67 0 0.00 28 9 24.32 MANEA 0 genome.wustl.edu 37 6 96054071 96054071 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 96054071 96054071 C T SNP MANEA ENST00000358812 human ensembl 74_37 +1 known silent c.1179 p.R393 0.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 tier1 - - 53 0 0.00 8 7 46.67 92 0 0.00 35 12 25.53 SLC8A3 0 genome.wustl.edu 37 14 70634809 70634809 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 70634809 70634809 C T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.331 p.E111K 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 tier1 - - 90 0 0.00 38 14 26.92 122 0 0.00 67 17 20.24 LMOD1 0 genome.wustl.edu 37 1 201869728 201869728 + Missense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 201869728 201869728 C A SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known missense c.413 p.R138I 0.177 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 tier1 - - 49 0 0.00 9 8 47.06 77 0 0.00 44 14 24.14 COL6A5 0 genome.wustl.edu 37 3 130098458 130098458 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 130098458 130098458 C T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.865 p.L289F 0.984 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 68 0 0.00 37 9 19.57 106 0 0.00 112 29 20.57 SYTL4 0 genome.wustl.edu 37 X 99956529 99956529 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 99956529 99956529 T A SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known missense c.251 p.N84I 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 tier1 - - 20 0 0.00 9 5 35.71 59 0 0.00 19 14 42.42 TLN2 0 genome.wustl.edu 37 15 62994352 62994352 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 62994352 62994352 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.1858 p.G620R 1.000 pfam_Talin_cent,pfam_ILWEQ_dom,superfamily_Talin_cent pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 43 0 0.00 11 7 38.89 59 0 0.00 31 10 24.39 PA 0 genome.wustl.edu 37 19 47996381 47996381 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 47996381 47996381 G A SNP PA ENST00000263354 human ensembl 74_37 -1 known silent c.471 p.S157 1.000 NULL prints_NSF_attach - no_errors PA HGNC ENSG00000105402 tier1 - - 93 0 0.00 36 12 25.00 38 0 0.00 23 4 14.81 ZFYVE19 0 genome.wustl.edu 37 15 41105991 41105991 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 41105991 41105991 C T SNP ZFYVE19 ENST00000355341 human ensembl 74_37 +1 known silent c.1191 p.P397 0.033 superfamily_Znf_FYVE_PHD pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ENSG00000166140 tier1 - - 74 0 0.00 35 5 12.50 45 0 0.00 25 13 34.21 HRNR 0 genome.wustl.edu 37 1 152193481 152193481 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 152193481 152193481 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.624 p.H208 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs144030283 GMAF=0.0005 88 0 0.00 30 8 21.05 56 0 0.00 32 7 17.95 LEKR1 0 genome.wustl.edu 37 3 156638446 156638446 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 156638446 156638446 G A SNP LEKR1 ENST00000356539 human ensembl 74_37 +1 known missense c.346 p.E116K 0.949 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000197980 tier1 - - 89 0 0.00 36 19 34.55 118 0 0.00 63 46 41.82 ACAN 0 genome.wustl.edu 37 15 89398803 89398803 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 89398803 89398803 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.2987 p.P996L 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 31 0 0.00 13 5 27.78 35 0 0.00 15 5 25.00 TRPM1 0 genome.wustl.edu 37 15 31319224 31319224 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 31319224 31319224 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.3441 p.P1147 0.776 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 88 0 0.00 54 11 16.92 67 0 0.00 29 24 45.28 OC90 0 genome.wustl.edu 37 8 133044234 133044234 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 133044234 133044234 C T SNP OC90 ENST00000443356 human ensembl 74_37 -1 known missense c.973 p.G325R 0.998 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors OC90 Uniprot_gn ENSG00000258417 tier1 - - 55 0 0.00 15 11 42.31 101 0 0.00 53 41 43.62 DDR2 0 genome.wustl.edu 37 1 162737119 162737119 + Nonsense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 162737119 162737119 G A SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known nonsense c.1263 p.W421* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 tier1 - - 81 0 0.00 28 4 12.50 162 0 0.00 77 21 21.43 FBXL7 0 genome.wustl.edu 37 5 15928035 15928035 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 15928035 15928035 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.164 p.S55N 1.000 NULL 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 - - 91 0 0.00 37 20 35.09 65 0 0.00 51 25 32.89 GUCY2C 0 genome.wustl.edu 37 12 14792796 14792796 + Silent SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 14792796 14792796 T C SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known silent c.2157 p.E719 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 tier1 - - 55 0 0.00 24 9 27.27 111 0 0.00 67 14 17.28 SENP3-EIF4A1 0 genome.wustl.edu 37 17 7475926 7475926 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 7475926 7475926 G A SNP SENP3-EIF4A1 ENST00000579777 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SENP3-EIF4A1 HGNC ENSG00000265500 tier1 - - 22 0 0.00 15 7 31.82 23 0 0.00 13 7 35.00 BCORP1 0 genome.wustl.edu 37 Y 21635821 21635821 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece Y 21635821 21635821 C T SNP BCORP1 ENST00000400605 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors BCORP1 HGNC ENSG00000215580 tier1 - - 72 0 0.00 15 21 58.33 76 0 0.00 18 15 45.45 ANO5 0 genome.wustl.edu 37 11 22279262 22279262 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 22279262 22279262 C T SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.1369 p.P457S 0.998 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 67 0 0.00 29 10 25.64 90 0 0.00 42 10 19.23 ZNF606 0 genome.wustl.edu 37 19 58499577 58499577 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 58499577 58499577 G A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.398 p.P133L 0.994 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 ZNF606 HGNC ENSG00000166704 tier1 - - 29 0 0.00 12 5 29.41 87 0 0.00 56 21 27.27 RAB8A 0 genome.wustl.edu 37 19 16222763 16222763 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 16222763 16222763 G A SNP RAB8A ENST00000300935 human ensembl 74_37 +1 known missense c.52 p.G18R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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_ARF,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 RAB8A HGNC ENSG00000167461 tier1 - - 190 0 0.00 78 20 20.41 77 0 0.00 71 38 34.86 SLCO1B3 0 genome.wustl.edu 37 12 21242954 21242954 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 21242954 21242954 G A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.2161 p.E721K 0.269 superfamily_MFS_dom_general_subst_transpt pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 48 0 0.00 30 7 18.92 117 0 0.00 58 9 13.43 SACS 0 genome.wustl.edu 37 13 23912516 23912516 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 13 23912516 23912516 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.5499 p.S1833 0.943 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 50 0 0.00 12 10 45.45 110 0 0.00 46 20 30.30 DJB3 0 genome.wustl.edu 37 2 234652241 234652241 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 234652241 234652241 C T SNP DJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DJB3 HGNC ENSG00000227802 tier1 - - 66 0 0.00 40 10 20.00 79 0 0.00 69 17 19.77 NXPE1 0 genome.wustl.edu 37 11 114401507 114401507 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 114401507 114401507 C T SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.223 p.E75K 0.043 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 tier1 - - 132 0 0.00 66 7 9.59 35 0 0.00 23 10 30.30 USP40 0 genome.wustl.edu 37 2 234442285 234442285 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 234442285 234442285 G A SNP USP40 ENST00000450966 human ensembl 74_37 -1 known silent c.1344 p.S448 0.001 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 tier1 - - 113 0 0.00 54 13 19.40 170 0 0.00 94 17 15.32 GOLM1 0 genome.wustl.edu 37 9 88655783 88655783 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 88655783 88655783 C T SNP GOLM1 ENST00000388711 human ensembl 74_37 -1 known silent c.468 p.L156 1.000 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 tier1 - - 66 0 0.00 43 13 23.21 106 0 0.00 72 19 20.88 SLC22A25 0 genome.wustl.edu 37 11 62931545 62931545 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 62931545 62931545 C T SNP SLC22A25 ENST00000306494 human ensembl 74_37 -1 known silent c.1395 p.R465 0.880 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 tier1 - - 26 0 0.00 14 4 22.22 173 0 0.00 74 22 22.92 ENSG00000252868 0 genome.wustl.edu 37 15 29526174 29526174 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 29526174 29526174 G A SNP ENSG00000252868 ENST00000517059 human ensembl 74_37 +1 novel rna NULL NULL 0.645 - - - no_errors snoZ278 RFAM ENSG00000252868 tier1 - - 73 0 0.00 41 14 25.45 125 0 0.00 57 17 22.97 SERPIND1 0 genome.wustl.edu 37 22 21133933 21133933 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 21133933 21133933 G A SNP SERPIND1 ENST00000215727 human ensembl 74_37 +1 known silent c.333 p.G111 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPIND1 HGNC ENSG00000099937 tier1 - - 23 0 0.00 20 8 28.57 94 0 0.00 60 17 22.08 GTF2H3 0 genome.wustl.edu 37 12 124130028 124130028 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 124130028 124130028 C T SNP GTF2H3 ENST00000543341 human ensembl 74_37 +1 known silent c.120 p.A40 0.007 pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34 pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34 - no_errors GTF2H3 HGNC ENSG00000111358 tier1 - - 45 0 0.00 29 5 14.71 132 0 0.00 81 44 35.20 SLC36A2 0 genome.wustl.edu 37 5 150696517 150696517 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 150696517 150696517 G A SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known missense c.1313 p.P438L 0.990 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 tier1 - - 97 0 0.00 21 12 36.36 51 0 0.00 22 14 38.89 CXorf57 0 genome.wustl.edu 37 X 105875881 105875881 + Missense_Mutation SNP C C G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 105875881 105875881 C G SNP CXorf57 ENST00000372548 human ensembl 74_37 +1 known missense c.1006 p.P336A 0.999 superfamily_-bd_OB-fold superfamily_-bd_OB-fold - no_errors CXorf57 HGNC ENSG00000147231 tier1 - - 94 0 0.00 28 26 48.15 43 0 0.00 14 9 39.13 RAPGEF5 0 genome.wustl.edu 37 7 22196499 22196499 + Missense_Mutation SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 22196499 22196499 G T SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.1106 p.A369D 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 tier1 - - 92 0 0.00 60 14 18.92 126 0 0.00 112 22 16.42 CCDC116 0 genome.wustl.edu 37 22 21990944 21990944 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 21990944 21990944 C T SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.1427 p.S476F 0.142 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 tier1 - - 59 0 0.00 27 7 20.59 113 0 0.00 65 32 32.99 SLC7A9 0 genome.wustl.edu 37 19 33353370 33353370 + Nonsense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 33353370 33353370 G A SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known nonsense c.601 p.Q201* 0.998 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 77 0 0.00 25 8 24.24 47 0 0.00 36 12 25.00 U2AF1L4 0 genome.wustl.edu 37 19 36236335 36236335 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 36236335 36236335 C T SNP U2AF1L4 ENST00000588100 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors U2AF1L4 HGNC ENSG00000161265 tier1 - - 74 0 0.00 37 12 24.49 52 0 0.00 47 15 24.19 ZNF609 0 genome.wustl.edu 37 15 64966588 64966588 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 64966588 64966588 T C SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.1535 p.L512P 1.000 pfscan_Znf_C2H2 pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 tier1 - - 50 0 0.00 21 5 19.23 113 1 0.87 76 14 15.56 ZNF846 0 genome.wustl.edu 37 19 9868843 9868843 + Missense_Mutation SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 9868843 9868843 G T SNP ZNF846 ENST00000397902 human ensembl 74_37 -1 known missense c.910 p.H304N 0.999 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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 tier1 - - 77 0 0.00 46 15 24.59 120 0 0.00 90 31 25.41 PARVB 0 genome.wustl.edu 37 22 44395417 44395417 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 44395417 44395417 G A SNP PARVB ENST00000406477 human ensembl 74_37 +1 known silent c.75 p.R25 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 tier1 - - 64 0 0.00 32 13 28.89 141 0 0.00 64 17 20.73 OR4A47 0 genome.wustl.edu 37 11 48511189 48511189 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 48511189 48511189 C T SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.845 p.P282L 0.998 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 OR4A47 HGNC ENSG00000237388 tier1 - - 96 0 0.00 35 13 27.08 68 0 0.00 45 17 27.42 PNMA1 0 genome.wustl.edu 37 14 74180001 74180001 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 74180001 74180001 C T SNP PNMA1 ENST00000316836 human ensembl 74_37 -1 known nonsense c.342 p.W114* 1.000 NULL superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 tier1 - - 81 0 0.00 27 10 27.03 81 0 0.00 72 16 18.18 CACNB4 0 genome.wustl.edu 37 2 152733001 152733001 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 152733001 152733001 G A SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known missense c.460 p.P154S 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 tier1 - - 63 0 0.00 37 8 17.78 172 0 0.00 90 37 29.13 KEL 0 genome.wustl.edu 37 7 142643301 142643301 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 142643301 142643301 C T SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.1307 p.R436Q 0.063 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 tier1 rs199731371 GMAF=0.0005 60 0 0.00 13 12 48.00 64 0 0.00 19 15 44.12 OR4C15 0 genome.wustl.edu 37 11 55322305 55322305 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 55322305 55322305 C T SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.523 p.R175C 0.966 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 OR4C15 HGNC ENSG00000181939 tier1 - - 45 0 0.00 19 7 26.92 124 0 0.00 83 32 27.83 GTF3C3 0 genome.wustl.edu 37 2 197629403 197629403 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 197629403 197629403 C T SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.2545 p.E849K 0.949 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 tier1 - - 50 0 0.00 26 10 27.78 133 0 0.00 90 11 10.89 CUL7 0 genome.wustl.edu 37 6 43010622 43010622 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 43010622 43010622 C T SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.3815 p.G1272E 1.000 pfam_Cullin_N pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 tier1 - - 58 0 0.00 24 14 36.84 62 0 0.00 54 17 23.94 SLC27A4 0 genome.wustl.edu 37 9 131115740 131115740 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 131115740 131115740 C T SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known missense c.1244 p.P415L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 tier1 - - 114 0 0.00 45 4 8.16 83 0 0.00 68 14 17.07 AZI1 0 genome.wustl.edu 37 17 79165000 79165000 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 79165000 79165000 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.2767 p.E923K 0.999 NULL superfamily_t-SRE - no_errors AZI1 HGNC ENSG00000141577 tier1 - - 164 0 0.00 66 24 26.67 52 0 0.00 21 8 27.59 ZNF483 0 genome.wustl.edu 37 9 114296583 114296583 + Nonsense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 114296583 114296583 G A SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known nonsense c.671 p.W224* 0.430 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 tier1 - - 68 0 0.00 24 15 38.46 140 0 0.00 100 32 24.24 CCBL2 0 genome.wustl.edu 37 1 89430581 89430581 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 89430581 89430581 G A SNP CCBL2 ENST00000260508 human ensembl 74_37 -1 known silent c.384 p.I128 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL2 HGNC ENSG00000137944 tier1 - - 70 0 0.00 13 19 59.38 113 0 0.00 53 33 38.37 C1orf189 0 genome.wustl.edu 37 1 154173059 154173059 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 154173059 154173059 C T SNP C1orf189 ENST00000368525 human ensembl 74_37 -1 known missense c.80 p.R27Q 0.004 NULL NULL - no_errors C1orf189 HGNC ENSG00000163263 tier1 rs201047185 - 77 0 0.00 41 10 19.61 105 1 0.94 63 18 22.22 TMEM201 0 genome.wustl.edu 37 1 9669901 9669901 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 9669901 9669901 C T SNP TMEM201 ENST00000340381 human ensembl 74_37 +1 known missense c.1397 p.S466F 0.998 NULL pfam_DUF2448,pfam_Ima1_N - no_errors TMEM201 HGNC ENSG00000188807 tier1 - - 40 0 0.00 22 9 29.03 42 0 0.00 31 13 29.55 ASH1L 0 genome.wustl.edu 37 1 155429630 155429630 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 155429630 155429630 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.5044 p.P1682S 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_D-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 69 0 0.00 22 5 18.52 129 0 0.00 99 30 23.26 ZNF221 0 genome.wustl.edu 37 19 44470773 44470775 + In_Frame_Del DEL AGG AGG - TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 AGG AGG AGG - AGG AGG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 44470773 44470775 AGG - DEL ZNF221 ENST00000251269 human ensembl 74_37 +1 known in_frame_del c.1119_1121 p.KG373in_frame_delN 0.116:0.010:0.049 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 56 0 0.00 25 4 13.79 56 0 0.00 33 12 26.67 HM13 0 genome.wustl.edu 37 20 30142484 30142485 + R INS - - A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 30142484 30142485 - A INS HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.193:0.172 - - - no_errors HM13 HGNC ENSG00000101294 tier1 17 0 0.00 18 2 10.00 12 0 0.00 11 2 15.38 DNM1P46 0 genome.wustl.edu 37 15 100332542 100332542 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 100332542 100332542 C T SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.056 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 - - 173 0 0.00 87 23 20.54 8 0 0.00 9 2 18.18 EP400 0 genome.wustl.edu 37 12 132466722 132466722 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 132466722 132466722 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.1736 p.P579L 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 - - 57 0 0.00 19 8 29.63 8 0 0.00 3 3 50.00 EXOC3L4 0 genome.wustl.edu 37 14 103568582 103568582 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 103568582 103568582 C T SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known silent c.522 p.A174 0.668 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 tier1 rs149486486 - 97 0 0.00 28 5 15.15 8 0 0.00 6 2 25.00 FAM193B 0 genome.wustl.edu 37 5 176951573 176951573 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 176951573 176951573 C T SNP FAM193B ENST00000443375 human ensembl 74_37 -1 known missense c.1810 p.G604S 1.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 tier1 - - 73 0 0.00 26 24 48.00 35 0 0.00 7 13 65.00 FAM47A 0 genome.wustl.edu 37 X 34148170 34148170 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 34148170 34148170 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.2226 p.F742 0.410 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 42 0 0.00 19 14 42.42 24 0 0.00 9 9 50.00 LILRA1 0 genome.wustl.edu 37 19 55107114 55107114 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 55107114 55107114 G A SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known silent c.672 p.K224 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 LILRA1 HGNC ENSG00000104974 tier1 - - 119 0 0.00 56 16 22.22 24 0 0.00 8 2 20.00 LOC645752 0 genome.wustl.edu 37 15 78213716 78213716 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 78213716 78213716 G A SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.947 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 tier1 - - 196 0 0.00 65 21 24.14 10 0 0.00 7 3 30.00 MAST4 0 genome.wustl.edu 37 5 66459948 66459948 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 66459948 66459948 T A SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.4950 p.D1650E 0.001 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 tier1 - - 60 0 0.00 12 14 53.85 23 0 0.00 7 5 41.67 MMP25 0 genome.wustl.edu 37 16 3100110 3100110 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 3100110 3100110 C T SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known silent c.333 p.S111 0.180 pirsf_Pept_M10A_Metazoans,smart_Peptidase_Metallo 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 MMP25 HGNC ENSG00000008516 tier1 rs181894590 GMAF=0.0005 69 0 0.00 21 7 24.14 16 0 0.00 5 4 44.44 MYCL 0 genome.wustl.edu 37 1 40366681 40366681 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 40366681 40366681 G A SNP MYCL ENST00000372816 human ensembl 74_37 -1 known silent c.426 p.P142 1.000 NULL pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 tier1 - - 85 0 0.00 31 23 42.59 13 0 0.00 2 4 66.67 MYH7 0 genome.wustl.edu 37 14 23889067 23889067 + Missense_Mutation SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 23889067 23889067 A C SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.3713 p.I1238S 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 86 0 0.00 32 5 13.51 21 0 0.00 4 4 50.00 NECAB3 0 genome.wustl.edu 37 20 32247711 32247711 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 32247711 32247711 G A SNP NECAB3 ENST00000246190 human ensembl 74_37 -1 known missense c.623 p.S208F 0.998 NULL pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB3 HGNC ENSG00000125967 tier1 - - 14 0 0.00 10 6 37.50 11 0 0.00 6 7 53.85 NOTUM 0 genome.wustl.edu 37 17 79911073 79911073 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 79911073 79911073 G A SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known missense c.1255 p.H419Y 0.998 pfam_NOTUM pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 tier1 - - 140 0 0.00 51 10 16.39 21 0 0.00 6 2 25.00 OR2F2 0 genome.wustl.edu 37 7 143633090 143633090 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 143633090 143633090 G A SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known silent c.765 p.T255 0.035 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 tier1 - - 74 0 0.00 15 12 42.86 44 0 0.00 8 11 57.89 OR7E14P 0 genome.wustl.edu 37 11 17074157 17074157 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 17074157 17074157 C T SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors OR7E14P HGNC ENSG00000184669 tier1 - - 40 0 0.00 26 8 23.53 11 0 0.00 4 2 33.33 PCDHGA4 0 genome.wustl.edu 37 5 140734786 140734786 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 140734786 140734786 C T SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.19 p.R7C 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 tier1 - - 152 0 0.00 41 43 50.59 16 0 0.00 9 3 25.00 PLXNB1 0 genome.wustl.edu 37 3 48461037 48461037 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 48461037 48461037 G A SNP PLXNB1 ENST00000449094 human ensembl 74_37 -1 known missense c.2075 p.S692F 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 PLXNB1 HGNC ENSG00000164050 tier1 - - 10 0 0.00 9 13 59.09 15 0 0.00 8 11 55.00 POU3F1 0 genome.wustl.edu 37 1 38511170 38511170 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 38511170 38511170 C T SNP POU3F1 ENST00000373012 human ensembl 74_37 -1 known missense c.1246 p.E416K 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC ENSG00000185668 tier1 - - 17 0 0.00 15 4 21.05 9 0 0.00 3 2 40.00 RARA 0 genome.wustl.edu 37 17 38511541 38511541 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 38511541 38511541 C T SNP RARA ENST00000254066 human ensembl 74_37 +1 known missense c.1039 p.R347W 0.922 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARA HGNC ENSG00000131759 tier1 - - 154 0 0.00 78 14 15.22 25 0 0.00 6 3 33.33 SBF1 0 genome.wustl.edu 37 22 50900238 50900238 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 50900238 50900238 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.2630 p.P877L 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 tier1 - - 43 0 0.00 13 7 35.00 9 0 0.00 4 5 55.56 SIGLEC8 0 genome.wustl.edu 37 19 51960875 51960875 + Nonsense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 51960875 51960875 C T SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known nonsense c.573 p.W191* 0.630 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 tier1 - - 40 0 0.00 19 7 26.92 19 0 0.00 4 5 55.56 SLC35D1 0 genome.wustl.edu 37 1 67519562 67519562 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 67519562 67519562 G A SNP SLC35D1 ENST00000235345 human ensembl 74_37 -1 known silent c.135 p.A45 1.000 NULL pfam_Tpt_PEP_trans_dom - no_errors SLC35D1 HGNC ENSG00000116704 tier1 - - 106 0 0.00 23 36 61.02 39 0 0.00 8 20 71.43 SLC35D1 0 genome.wustl.edu 37 1 67519563 67519563 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 67519563 67519563 G A SNP SLC35D1 ENST00000235345 human ensembl 74_37 -1 known missense c.134 p.A45V 1.000 NULL pfam_Tpt_PEP_trans_dom - no_errors SLC35D1 HGNC ENSG00000116704 tier1 - - 105 0 0.00 23 37 61.67 39 0 0.00 8 20 71.43 SLC35G5 0 genome.wustl.edu 37 8 11189398 11189398 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 11189398 11189398 C T SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known silent c.783 p.I261 0.851 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 tier1 - - 195 0 0.00 53 44 45.36 18 0 0.00 9 7 43.75 TMEM259 0 genome.wustl.edu 37 19 1014286 1014286 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 1014286 1014286 G A SNP TMEM259 ENST00000356663 human ensembl 74_37 -1 known missense c.412 p.P138S 0.997 pfam_Membralin pfam_Membralin - no_errors TMEM259 HGNC ENSG00000182087 tier1 - - 70 0 0.00 17 4 19.05 29 0 0.00 9 8 47.06 TUBA3C 0 genome.wustl.edu 37 13 19751361 19751361 + Missense_Mutation SNP T T A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 13 19751361 19751361 T A SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.762 p.E254D 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 128 0 0.00 32 16 33.33 22 0 0.00 3 6 66.67 VOPP1 0 genome.wustl.edu 37 7 55540609 55540609 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 55540609 55540609 G A SNP VOPP1 ENST00000285279 human ensembl 74_37 -1 known missense c.458 p.P153L 0.956 NULL NULL - no_errors VOPP1 HGNC ENSG00000154978 tier1 - - 30 0 0.00 21 4 16.00 9 0 0.00 9 3 23.08 ZNF721 0 genome.wustl.edu 37 4 435581 435581 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 435581 435581 G A SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.2675 p.P892L 0.872 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 tier1 - - 72 0 0.00 38 10 20.83 29 0 0.00 9 3 25.00 ZNRF3 0 genome.wustl.edu 37 22 29446776 29446776 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 29446776 29446776 C T SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known silent c.2607 p.G869 0.005 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 tier1 - - 99 0 0.00 39 13 25.00 9 0 0.00 6 2 25.00 LELP1 0 genome.wustl.edu 37 1 153177421 153177421 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 153177421 153177421 C T SNP LELP1 ENST00000368747 human ensembl 74_37 +1 known missense c.238 p.P80S 0.001 NULL NULL - no_errors LELP1 HGNC ENSG00000203784 tier1 - - 46 0 0.00 21 5 19.23 77 0 0.00 40 4 9.09 SYT4 0 genome.wustl.edu 37 18 40853563 40853563 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 18 40853563 40853563 G A SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known silent c.831 p.I277 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 78 0 0.00 34 13 27.66 89 0 0.00 71 6 7.79 TONSL 0 genome.wustl.edu 37 8 145666390 145666390 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 145666390 145666390 C T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.970 p.A324T 0.988 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 139 0 0.00 60 23 27.71 56 0 0.00 67 7 9.46 ENSG00000162947 0 genome.wustl.edu 37 2 150714896 150714896 + R SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 150714896 150714896 C A SNP ENSG00000162947 ENST00000295052 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC007364.1 Clone_based_vega_gene ENSG00000162947 tier1 - - 47 0 0.00 29 9 23.68 86 1 1.15 55 4 6.78 TPRX1 0 genome.wustl.edu 37 19 48305231 48305231 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 48305231 48305231 T C SNP TPRX1 ENST00000535759 human ensembl 74_37 -1 known missense c.1328 p.D443G 0.006 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX1 HGNC ENSG00000178928 tier1 - - 50 0 0.00 31 6 16.22 48 0 0.00 53 4 7.02 C19orf53 0 genome.wustl.edu 37 19 13888893 13888893 + Missense_Mutation SNP A A C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 13888893 13888893 A C SNP C19orf53 ENST00000588234 human ensembl 74_37 +1 known missense c.181 p.I61L 1.000 pfam_UPF0390 pfam_UPF0390 - no_errors C19orf53 HGNC ENSG00000104979 tier1 - - 94 0 0.00 29 13 30.95 85 0 0.00 63 5 7.25 OR52H1 0 genome.wustl.edu 37 11 5566669 5566669 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 5566669 5566669 C T SNP OR52H1 ENST00000322653 human ensembl 74_37 -1 known missense c.85 p.E29K 0.915 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC ENSG00000181616 tier1 - - 28 0 0.00 14 5 26.32 113 0 0.00 73 7 8.75 MAP3K7CL 0 genome.wustl.edu 37 21 30521520 30521520 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 21 30521520 30521520 C T SNP MAP3K7CL ENST00000341618 human ensembl 74_37 +1 known silent c.381 p.P127 0.456 NULL NULL - no_errors MAP3K7CL HGNC ENSG00000156265 tier1 - - 39 0 0.00 18 11 37.93 126 2 1.55 73 27 26.73 APOB 0 genome.wustl.edu 37 2 21238125 21238125 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 21238125 21238125 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.3516 p.E1172 0.991 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 - - 68 0 0.00 31 4 11.43 136 2 1.45 67 9 11.84 PLA2G5 0 genome.wustl.edu 37 1 20395415 20395415 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 20395415 20395415 C T SNP PLA2G5 ENST00000460175 human ensembl 74_37 +1 known rna NULL NULL 0.069 - - - no_errors PLA2G5 HGNC ENSG00000127472 tier1 - - 38 0 0.00 25 14 35.90 145 2 1.35 86 69 44.52 ST5 0 genome.wustl.edu 37 11 8747717 8747717 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 8747717 8747717 G A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known silent c.1380 p.S460 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 ST5 HGNC ENSG00000166444 tier1 - - 89 0 0.00 30 9 22.50 153 2 1.29 110 26 19.12 SYNJ2 0 genome.wustl.edu 37 6 158485872 158485872 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 6 158485872 158485872 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.1374 p.K458 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 tier1 - - 161 0 0.00 29 18 38.30 37 1 2.63 15 10 40.00 POLE 0 genome.wustl.edu 37 12 133237724 133237724 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 133237724 133237724 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.2891 p.S964F 1.000 pfam_D-dir_D_pol_B_multi_dom pfam_D_pol_e_suA_C,pfam_D-dir_D_pol_B_exonuc,pfam_D-dir_D_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 46 0 0.00 16 8 33.33 33 1 2.94 17 10 37.04 GUSB 0 genome.wustl.edu 37 7 65439344 65439344 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 65439344 65439344 G A SNP GUSB ENST00000304895 human ensembl 74_37 -1 known silent c.1329 p.V443 0.231 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2 pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 tier1 rs139776224 GMAF=0.0005 70 0 0.00 25 13 34.21 48 1 2.04 18 8 30.77 FAM179A 0 genome.wustl.edu 37 2 29274679 29274679 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 29274679 29274679 C T SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known missense c.2780 p.P927L 0.998 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 tier1 - - 182 0 0.00 58 24 28.92 40 1 2.44 26 10 27.78 ADAMTS17 0 genome.wustl.edu 37 15 100672345 100672345 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 100672345 100672345 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.1588 p.G530R 1.000 smart_ADAM_Cys-rich pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 tier1 - - 117 0 0.00 54 14 20.59 8 0 0.00 4 1 20.00 ADAMTS17 0 genome.wustl.edu 37 15 100672346 100672346 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 100672346 100672346 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known silent c.1587 p.A529 0.004 smart_ADAM_Cys-rich pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 tier1 - - 116 0 0.00 53 14 20.90 8 0 0.00 4 1 20.00 AK 0 genome.wustl.edu 37 9 117130751 117130751 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 117130751 117130751 G A SNP AK ENST00000307564 human ensembl 74_37 -1 known missense c.1541 p.P514L 0.003 NULL pfam_TF_AT-hook - no_errors AK HGNC ENSG00000106948 tier1 - - 114 0 0.00 63 17 20.99 9 0 0.00 5 0 0.00 CELP 0 genome.wustl.edu 37 9 135962585 135962586 + R INS - - GCCCCATCCCCGCTACGGGTGACTCTGAGGCC TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 135962585 135962586 - GCCCCATCCCCGCTACGGGTGACTCTGAGGCC INS CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.130:0.000 - - - no_errors CELP HGNC ENSG00000170827 tier1 26 0 0.00 6 0 0.00 26 0 0.00 6 0 0.00 ENSG00000161103 0 genome.wustl.edu 37 22 18846102 18846102 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 18846102 18846102 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 561 1 0.18 243 22 8.30 10 0 0.00 5 1 16.67 FAM187B 0 genome.wustl.edu 37 19 35715857 35715857 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 35715857 35715857 C T SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known silent c.981 p.A327 0.000 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 tier1 - - 109 0 0.00 30 11 26.83 12 0 0.00 7 1 12.50 GSN-AS1 0 genome.wustl.edu 37 9 124045770 124045770 + R SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 124045770 124045770 T C SNP GSN-AS1 ENST00000414544 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors GSN-AS1 HGNC ENSG00000235865 tier1 - - 13 0 0.00 6 6 50.00 5 0 0.00 5 1 16.67 IL9R 0 genome.wustl.edu 37 X 155239914 155239914 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 155239914 155239914 C T SNP IL9R ENST00000244174 human ensembl 74_37 +1 known missense c.1406 p.A469V 0.001 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 tier1 - - 38 0 0.00 22 3 12.00 8 0 0.00 7 0 0.00 ITIH4-AS1 0 genome.wustl.edu 37 3 52858166 52858166 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 3 52858166 52858166 C T SNP ITIH4-AS1 ENST00000478366 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ITIH4-AS1 HGNC ENSG00000239799 tier1 - - 73 0 0.00 58 14 19.44 11 0 0.00 9 1 10.00 KDM5C 0 genome.wustl.edu 37 X 53226161 53226178 + In_Frame_Del DEL GGAGGGCAGTGAGGCCAG GGAGGGCAGTGAGGCCAG - TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 GGAGGGCAGTGAGGCCAG GGAGGGCAGTGAGGCCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 53226161 53226178 GGAGGGCAGTGAGGCCAG - DEL KDM5C ENST00000375401 human ensembl 74_37 -1 known in_frame_del c.2688_2671 p.LASLPS891in_frame_del 0.525:0.535:0.430:0.122:0.957:0.968:0.929:0.855:0.845:0.849:0.999:1.000:1.000:1.000:1.000:0.973:0.997:0.997 pfam_Lys_sp_deMease_like_dom 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 5 0 0.00 2 0 0.00 5 0 0.00 2 0 0.00 MRI1 0 genome.wustl.edu 37 19 13875884 13875884 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 13875884 13875884 C T SNP MRI1 ENST00000040663 human ensembl 74_37 +1 known missense c.332 p.A111V 0.991 pfam_IF-2B-related,tigrfam_IF-2BI_MT,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MT,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 tier1 - - 88 0 0.00 37 4 9.76 30 0 0.00 9 0 0.00 PHF21B 0 genome.wustl.edu 37 22 45312480 45312480 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 45312480 45312480 G A SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known missense c.244 p.L82F 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 - - 160 0 0.00 60 20 25.00 19 0 0.00 9 1 10.00 PHF21B 0 genome.wustl.edu 37 22 45312481 45312481 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 45312481 45312481 G A SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known silent c.243 p.S81 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 - - 154 0 0.00 59 20 25.32 19 0 0.00 9 1 10.00 PLK5 0 genome.wustl.edu 37 19 1533980 1533980 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 1533980 1533980 C T SNP PLK5 ENST00000334770 human ensembl 74_37 +1 known silent c.765 p.L255 0.993 NULL superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PLK5 HGNC ENSG00000185988 tier1 - - 150 0 0.00 111 12 9.76 5 0 0.00 7 1 12.50 POLRMT 0 genome.wustl.edu 37 19 621577 621577 + Frame_Shift_Del DEL C C - TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 621577 621577 C - DEL POLRMT ENST00000588649 human ensembl 74_37 -1 known frame_shift_del c.2121 p.W707fs 1.000 NULL pfam_D-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 tier1 60 0 0.00 17 2 10.53 6 0 0.00 1 0 0.00 PRAMEF10 0 genome.wustl.edu 37 1 12954686 12954686 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 12954686 12954686 C T SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known silent c.597 p.L199 0.000 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 tier1 - - 130 1 0.76 74 30 28.85 18 0 0.00 7 0 0.00 RBBP8NL 0 genome.wustl.edu 37 20 60990633 60990633 + Splice_Site SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 60990633 60990633 C T SNP RBBP8NL ENST00000252998 human ensembl 74_37 -1 known splice_site c.627+1 e7+1 1.000 - - - no_errors RBBP8NL HGNC ENSG00000130701 tier1 - - 52 0 0.00 14 9 39.13 18 0 0.00 9 0 0.00 SMTN 0 genome.wustl.edu 37 22 31483984 31483984 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 31483984 31483984 C T SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.85 p.R29C 1.000 pfam_Smoothelin pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 tier1 - - 55 0 0.00 40 4 9.09 5 0 0.00 6 0 0.00 SPRED2 0 genome.wustl.edu 37 2 65541002 65541002 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 65541002 65541002 G A SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known missense c.890 p.S297L 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 tier1 - - 90 0 0.00 50 9 15.25 19 0 0.00 4 0 0.00 TMEM198 0 genome.wustl.edu 37 2 220412613 220412613 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 220412613 220412613 C T SNP TMEM198 ENST00000344458 human ensembl 74_37 +1 known silent c.552 p.I184 0.962 NULL NULL - no_errors TMEM198 HGNC ENSG00000188760 tier1 - - 115 0 0.00 33 14 29.79 5 0 0.00 1 1 50.00 ZAP70 0 genome.wustl.edu 37 2 98340581 98340581 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 98340581 98340581 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.82 p.G28S 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 - - 125 0 0.00 43 20 31.75 8 0 0.00 2 1 33.33 ARFGEF2 0 genome.wustl.edu 37 20 47614645 47614645 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 47614645 47614645 C T SNP ARFGEF2 ENST00000493140 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 17 0 0.00 10 14 58.33 0 0 0.00 0 0 0.00 GOLGA6D 0 genome.wustl.edu 37 15 75585481 75585481 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 15 75585481 75585481 G A SNP GOLGA6D ENST00000434739 human ensembl 74_37 +1 known silent c.1569 p.E523 0.998 NULL NULL - no_errors GOLGA6D HGNC ENSG00000140478 tier1 - - 97 0 0.00 44 5 10.20 0 0 0.00 0 0 0.00 GPR123 0 genome.wustl.edu 37 10 134886644 134886644 + Frame_Shift_Del DEL C C - TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 10 134886644 134886644 C - DEL GPR123 ENST00000607359 human ensembl 74_37 +1 putative frame_shift_del c.678 p.R228fs 0.000 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 tier1 42 0 0.00 23 2 8.00 2 0 0.00 6 0 0.00 GRID2IP 0 genome.wustl.edu 37 7 6548863 6548863 + Frame_Shift_Del DEL C C - TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 7 6548863 6548863 C - DEL GRID2IP ENST00000457091 human ensembl 74_37 -1 putative frame_shift_del c.1853 p.G618fs 0.932 NULL pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 30 0 0.00 24 4 14.29 3 0 0.00 2 0 0.00 GSTM5 0 genome.wustl.edu 37 1 110255276 110255276 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 110255276 110255276 G A SNP GSTM5 ENST00000369812 human ensembl 74_37 +1 known missense c.73 p.D25N 0.955 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM5 HGNC ENSG00000134201 tier1 - - 80 0 0.00 40 15 27.27 1 0 0.00 4 1 20.00 KAT2A 0 genome.wustl.edu 37 17 40273156 40273156 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 40273156 40273156 C T SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known missense c.167 p.G56D 1.000 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 tier1 - - 20 0 0.00 13 3 18.75 1 0 0.00 0 0 0.00 KIR2DL1 0 genome.wustl.edu 37 19 55281320 55281320 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 55281320 55281320 C T SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known silent c.18 p.V6 0.925 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 tier1 - - 139 0 0.00 74 25 25.25 0 0 0.00 0 0 0.00 LINC00266-1 0 genome.wustl.edu 37 20 62934771 62934771 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 20 62934771 62934771 G A SNP LINC00266-1 ENST00000279067 human ensembl 74_37 +1 known rna NULL NULL 0.225 - - - no_errors LINC00266-1 HGNC ENSG00000149656 tier1 - - 104 1 0.95 47 26 35.62 0 0 0.00 0 0 0.00 LOC101927060 0 genome.wustl.edu 37 17 45177675 45177675 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 45177675 45177675 C T SNP LOC101927060 ENST00000571665 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-156P1.3 Clone_based_vega_gene ENSG00000262879 tier1 - - 182 0 0.00 72 14 16.28 2 0 0.00 0 0 0.00 LOC101929676 0 genome.wustl.edu 37 4 119554750 119554750 + R SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 119554750 119554750 C T SNP LOC101929676 ENST00000567913 human ensembl 74_37 +1 known rna NULL NULL 0.058 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 tier1 - - 48 0 0.00 20 5 20.00 0 0 0.00 0 0 0.00 LTBP3 0 genome.wustl.edu 37 11 65325325 65325326 + In_Frame_Ins INS - - CAGCAG TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 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 MT-CO2 0 genome.wustl.edu 37 MT 7776 7776 + Missense_Mutation SNP T T C TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece MT 7776 7776 T C SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.191 p.V64A NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 1160 0 0.00 199 468 69.96 0 0 0.00 0 0 0.00 MUC5B 0 genome.wustl.edu 37 11 1262307 1262307 + Missense_Mutation SNP T T G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 1262307 1262307 T G SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.4206 p.C1402W 0.001 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 - - 64 0 0.00 24 9 27.27 4 0 0.00 5 0 0.00 MYO9B 0 genome.wustl.edu 37 19 17306023 17306023 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 17306023 17306023 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.3787 p.P1263S 0.001 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 tier1 - - 208 0 0.00 49 21 30.00 2 0 0.00 4 0 0.00 NUMBL 0 genome.wustl.edu 37 19 41173893 41173898 + In_Frame_Del DEL TGCTGT TGCTGT - TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 TGCTGT TGCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 41173893 41173898 TGCTGT - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1310_1305 p.QQ439in_frame_del 1.000:1.000:1.000:1.000:1.000:0.998 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 2 0 0.00 1 1 50.00 2 0 0.00 1 1 50.00 PCDHB13 0 genome.wustl.edu 37 5 140595648 140595648 + Silent SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 140595648 140595648 G T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1953 p.P651 0.886 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 135 0 0.00 37 25 40.32 0 0 0.00 0 0 0.00 PCDHB6 0 genome.wustl.edu 37 5 140531420 140531420 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 140531420 140531420 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1582 p.R528C 0.040 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 368 1 0.27 83 71 46.10 2 0 0.00 0 1 100.00 PKD1P6 0 genome.wustl.edu 37 16 15221854 15221854 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 16 15221854 15221854 G A SNP PKD1P6 ENST00000424133 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PKD1P6 HGNC ENSG00000250251 tier1 - - 179 0 0.00 51 27 34.62 0 0 0.00 0 0 0.00 PPP2R3B 0 genome.wustl.edu 37 X 295211 295211 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 295211 295211 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known missense c.1619 p.A540V 0.011 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 tier1 - - 46 0 0.00 20 4 16.67 4 0 0.00 3 0 0.00 RBM14 0 genome.wustl.edu 37 11 66384354 66384354 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 66384354 66384354 C T SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known silent c.163 p.L55 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 tier1 - - 78 0 0.00 39 26 40.00 0 0 0.00 5 0 0.00 RRAS 0 genome.wustl.edu 37 19 50143295 50143295 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 50143295 50143295 G A SNP RRAS ENST00000246792 human ensembl 74_37 -1 known missense c.61 p.P21S 0.998 NULL 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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAS HGNC ENSG00000126458 tier1 - - 31 0 0.00 14 4 22.22 1 0 0.00 0 0 0.00 SOX17 0 genome.wustl.edu 37 8 55372039 55372039 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 8 55372039 55372039 G A SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known silent c.729 p.G243 0.958 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 tier1 - - 13 0 0.00 5 4 44.44 0 0 0.00 3 1 25.00 TNFRSF1A 0 genome.wustl.edu 37 12 6438569 6438569 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 12 6438569 6438569 C T SNP TNFRSF1A ENST00000162749 human ensembl 74_37 -1 known missense c.1277 p.R426H 0.020 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 tier1 - - 44 0 0.00 21 13 38.24 3 0 0.00 0 0 0.00 TSPY2 0 genome.wustl.edu 37 Y 6115641 6115641 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece Y 6115641 6115641 C T SNP TSPY2 ENST00000320701 human ensembl 74_37 +1 known silent c.603 p.I201 0.991 pfam_P_family pfam_P_family - no_errors TSPY2 HGNC ENSG00000168757 tier1 - - 328 0 0.00 167 30 15.08 0 0 0.00 0 0 0.00 TUBB4A 0 genome.wustl.edu 37 19 6495627 6495627 + Missense_Mutation SNP C C G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 6495627 6495627 C G SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known missense c.883 p.D295H 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 tier1 - - 147 0 0.00 41 15 26.79 1 0 0.00 1 0 0.00 UNC93B1 0 genome.wustl.edu 37 11 67763181 67763181 + Missense_Mutation SNP A A G TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 11 67763181 67763181 A G SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.1261 p.W421R 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 tier1 - - 266 0 0.00 142 36 20.22 0 0 0.00 0 1 100.00 VCX 0 genome.wustl.edu 37 X 7811269 7811269 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece X 7811269 7811269 G A SNP VCX ENST00000381059 human ensembl 74_37 +1 known missense c.25 p.G9R 0.018 NULL NULL - no_errors VCX HGNC ENSG00000182583 tier1 - - 161 0 0.00 57 20 25.97 3 0 0.00 5 0 0.00 ZNF257 0 genome.wustl.edu 37 19 22256325 22256325 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 22256325 22256325 C T SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.185 p.P62L 0.124 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 ZNF257 HGNC ENSG00000197134 tier1 - - 100 0 0.00 34 15 30.61 4 0 0.00 7 0 0.00 ZNF676 0 genome.wustl.edu 37 19 22362861 22362861 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 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 - - 26 0 0.00 12 7 36.84 4 0 0.00 1 0 0.00 PRAMEF11 0 genome.wustl.edu 37 1 12888398 12888398 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 12888398 12888398 G A SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known silent c.126 p.L42 0.005 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 tier1 - - 73 0 0.00 61 21 25.61 2 0 0.00 0 2 100.00 TNFAIP8L1 0 genome.wustl.edu 37 19 4652151 4652151 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 4652151 4652151 C T SNP TNFAIP8L1 ENST00000327473 human ensembl 74_37 +1 known silent c.270 p.F90 0.993 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L1 HGNC ENSG00000185361 tier1 - - 109 0 0.00 46 16 25.81 0 0 0.00 2 2 50.00 MTMR9LP 0 genome.wustl.edu 37 1 32706031 32706031 + R SNP A A T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 1 32706031 32706031 A T SNP MTMR9LP ENST00000423995 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MTMR9LP HGNC ENSG00000220785 tier1 - - 31 0 0.00 22 5 18.52 35 0 0.00 19 2 9.52 ZNF618 0 genome.wustl.edu 37 9 116812049 116812049 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 9 116812049 116812049 G A SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.2467 p.E823K 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 tier1 - - 53 0 0.00 29 5 14.71 31 0 0.00 31 2 6.06 ACP5 0 genome.wustl.edu 37 19 11687292 11687292 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 11687292 11687292 G A SNP ACP5 ENST00000218758 human ensembl 74_37 -1 known silent c.501 p.F167 0.919 pfam_PEstase_dom pfam_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 tier1 - - 120 0 0.00 35 14 28.57 61 0 0.00 29 2 6.45 TGFBRAP1 0 genome.wustl.edu 37 2 105897047 105897047 + Nonsense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 2 105897047 105897047 C A SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known nonsense c.1255 p.E419* 1.000 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 tier1 - - 96 0 0.00 39 12 23.53 91 0 0.00 78 2 2.50 TCERG1 0 genome.wustl.edu 37 5 145883505 145883505 + Missense_Mutation SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 5 145883505 145883505 G T SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known missense c.2666 p.R889L 1.000 superfamily_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 tier1 - - 46 0 0.00 30 4 11.76 106 0 0.00 98 2 2.00 MBOAT7 0 genome.wustl.edu 37 19 54687475 54687475 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 19 54687475 54687475 C T SNP MBOAT7 ENST00000245615 human ensembl 74_37 -1 known missense c.422 p.G141E 0.913 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 tier1 - - 64 0 0.00 34 9 20.93 51 0 0.00 28 3 9.68 MGAT3 0 genome.wustl.edu 37 22 39884372 39884372 + Missense_Mutation SNP C C A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 22 39884372 39884372 C A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.1020 p.F340L 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 tier1 - - 54 0 0.00 23 7 23.33 39 0 0.00 29 3 9.38 CPNE6 0 genome.wustl.edu 37 14 24542163 24542163 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 14 24542163 24542163 G A SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known missense c.183 p.M61I 0.998 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 tier1 - - 121 0 0.00 35 8 18.60 38 0 0.00 34 2 5.56 KRTAP9-9 0 genome.wustl.edu 37 17 39412008 39412008 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 17 39412008 39412008 C T SNP KRTAP9-9 ENST00000394008 human ensembl 74_37 +1 known missense c.371 p.P124L 0.769 NULL NULL - no_errors KRTAP9-9 HGNC ENSG00000198083 tier1 - - 144 0 0.00 74 23 23.71 29 0 0.00 31 2 6.06 MIR548I2 0 genome.wustl.edu 37 4 9557806 9557806 + R SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 9557806 9557806 G A SNP MIR548I2 ENST00000408348 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors MIR548I2 HGNC ENSG00000221275 tier1 - - 193 0 0.00 83 22 20.95 42 0 0.00 31 3 8.82 IRF2 0 genome.wustl.edu 37 4 185350106 185350137 + Frame_Shift_Del DEL ACATACACCCACCCTGACCCACTCACCTTGTT ACATACACCCACCCTGACCCACTCACCTTGTT - TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 ACATACACCCACCCTGACCCACTCACCTTGTT ACATACACCCACCCTGACCCACTCACCTTGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3cc3e388-14d8-4cc7-a4c3-6ddff8364f71 98f1433c-7b53-4e82-9fd9-f669bfe36ece 4 185350106 185350137 ACATACACCCACCCTGACCCACTCACCTTGTT - DEL IRF2 ENST00000393593 human ensembl 74_37 -1 known frame_shift_del c.113_82 p.N28fs 0.000:0.001:0.001:0.002:0.002:0.021:0.006:0.188:0.182:0.003:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.925:0.938:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Interferon_reg_fact_D-bd_dom,smart_Interferon_reg_fact_D-bd_dom,pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_D-bd_dom,smart_Interferon_reg_fact_D-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_D-bd_dom - no_errors IRF2 HGNC ENSG00000168310 tier1 126 0 0.00 68 3 4.23 126 0 0.00 68 3 4.23