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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF PALMD 0 genome.wustl.edu 37 1 100155463 100155463 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 100155463 100155463 A C SNP PALMD ENST00000605497 human ensembl 74_37 +1 putative silent c.1647 p.S549 0.004 NULL pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 116 0 0 89 12 11.8812 AMY2B 0 genome.wustl.edu 37 1 104115765 104115765 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 104115765 104115765 T G SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.396 p.S132R 0.995 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 870 3 0.343643 636 82 11.4206 AKNAD1 0 genome.wustl.edu 37 1 109394496 109394496 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 109394496 109394496 A C SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.791 p.I264S 0.973 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 385 0 0 324 56 14.7368 LRIG2 0 genome.wustl.edu 37 1 113655213 113655213 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 113655213 113655213 A T SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.1911 p.K637N 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 211 0 0 223 19 7.85124 TRIM45 0 genome.wustl.edu 37 1 117656011 117656011 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 117656011 117656011 C T SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known missense c.1564 p.A522T 0.997 NULL pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 104 0 0 102 7 6.42202 MIIP 0 genome.wustl.edu 37 1 12091346 12091346 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 12091346 12091346 T G SNP MIIP ENST00000235332 human ensembl 74_37 +1 known missense c.966 p.I322M 0.064 NULL NULL - no_errors MIIP HGNC ENSG00000116691 56 0 0 53 6 10.1695 VPS13D 0 genome.wustl.edu 37 1 12338075 12338075 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 12338075 12338075 A C SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.4430 p.E1477A 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 192 0 0 130 20 13.3333 PRAMEF4 0 genome.wustl.edu 37 1 12942969 12942969 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 12942969 12942969 C A SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known missense c.247 p.V83L 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 84 0 0 77 12 13.4831 POGZ 0 genome.wustl.edu 37 1 151378288 151378288 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 151378288 151378288 A C SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.3223 p.F1075V 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 115 0 0 119 11 8.46154 FLG 0 genome.wustl.edu 37 1 152286342 152286342 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 152286342 152286342 A C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1020 p.D340E 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 459 0 0 413 62 13.0526 ADAR 0 genome.wustl.edu 37 1 154574777 154574777 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 154574777 154574777 C T SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.470 p.R157H 0.000 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 137 0 0 125 21 14.3836 PBXIP1 0 genome.wustl.edu 37 1 154919262 154919262 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 154919262 154919262 A C SNP PBXIP1 ENST00000542459 human ensembl 74_37 -1 known silent c.423 p.L141 0.956 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 156 0 0 129 17 11.6438 OR10Z1 0 genome.wustl.edu 37 1 158576882 158576882 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 158576882 158576882 C T SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.654 p.Y218 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 OR10Z1 HGNC ENSG00000198967 340 0 0 285 31 9.81013 SPTA1 0 genome.wustl.edu 37 1 158614075 158614075 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 158614075 158614075 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4306 p.R1436W 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 151 0 0 135 9 6.25 OLFML2B 0 genome.wustl.edu 37 1 161968040 161968040 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 161968040 161968040 G T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1049 p.A350E 0.001 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 164 0 0 171 28 14.0704 DUSP27 0 genome.wustl.edu 37 1 167096038 167096038 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 167096038 167096038 A T SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.1670 p.H557L 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 119 0 0 97 9 8.49057 SELE 0 genome.wustl.edu 37 1 169694904 169694904 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 169694904 169694904 T C SNP SELE ENST00000333360 human ensembl 74_37 -1 known missense c.1814 p.K605R 0.000 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 152 0 0 134 16 10.6667 METTL13 0 genome.wustl.edu 37 1 171755119 171755119 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 171755119 171755119 T C SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known silent c.1014 p.L338 0.987 NULL pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 45 0 0 33 5 13.1579 SLC9C2 0 genome.wustl.edu 37 1 173570870 173570870 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 173570870 173570870 A C SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.46 p.L16V 0.588 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 401 0 0 270 45 14.2857 TNN 0 genome.wustl.edu 37 1 175054550 175054550 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 175054550 175054550 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1244 p.P415L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 30 0 0 23 4 14.8148 CEP350 0 genome.wustl.edu 37 1 180022921 180022921 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 180022921 180022921 T G SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.5026 p.F1676V 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 205 0 0 172 20 10.4167 CAMSAP2 0 genome.wustl.edu 37 1 200816802 200816802 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 200816802 200816802 T G SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known silent c.1260 p.V420 0.985 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 217 0 0 161 26 13.9037 FMOD 0 genome.wustl.edu 37 1 203317106 203317106 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 203317106 203317106 T G SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.293 p.K98T 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 39 0 0 42 4 8.69565 KIF17 0 genome.wustl.edu 37 1 20998458 20998458 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 20998458 20998458 C T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.2695 p.V899I 0.298 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 102 0 0 82 24 22.6415 VASH2 0 genome.wustl.edu 37 1 213147373 213147373 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 213147373 213147373 A T SNP VASH2 ENST00000517399 human ensembl 74_37 +1 known missense c.956 p.Q319L 1.000 NULL NULL - no_errors VASH2 HGNC ENSG00000143494 56 0 0 52 8 13.3333 CENPF 0 genome.wustl.edu 37 1 214815833 214815833 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 214815833 214815833 G A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.4152 p.L1384 0.785 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 120 0 0 108 21 16.2791 PARP1 0 genome.wustl.edu 37 1 226553738 226553738 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 226553738 226553738 A T SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known missense c.2422 p.S808T 0.997 pfam_Poly(ADP-ribose)pol_cat_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 92 0 0 98 7 6.66667 C1orf198 0 genome.wustl.edu 37 1 230979513 230979513 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 230979513 230979513 T C SNP C1orf198 ENST00000366663 human ensembl 74_37 -1 known missense c.514 p.R172G 0.301 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 216 0 0 210 31 12.8631 SIPA1L2 0 genome.wustl.edu 37 1 232564266 232564266 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 232564266 232564266 T A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.4301 p.Q1434L 0.994 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 136 0 0 127 24 15.894 RYR2 0 genome.wustl.edu 37 1 237806673 237806673 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 237806673 237806673 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7262 p.L2421S 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 305 0 0 243 35 12.5899 EFCAB2 0 genome.wustl.edu 37 1 245246923 245246923 + Splice_Site SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 245246923 245246923 G T SNP EFCAB2 ENST00000366522 human ensembl 74_37 +1 known splice_site c.715-1 e7-1 1.000 - - - no_errors EFCAB2 HGNC ENSG00000203666 47 0 0 45 7 13.4615 YTHDF2 0 genome.wustl.edu 37 1 29069898 29069898 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 29069898 29069898 A C SNP YTHDF2 ENST00000373812 human ensembl 74_37 +1 known silent c.1116 p.G372 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 177 0 0 166 29 14.8718 CSMD2 0 genome.wustl.edu 37 1 33988919 33988919 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 33988919 33988919 A C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.10497 p.A3499 0.957 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 92 0 0 73 7 8.75 WRAP73 0 genome.wustl.edu 37 1 3553603 3553603 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 3553603 3553603 C T SNP WRAP73 ENST00000270708 human ensembl 74_37 -1 known missense c.472 p.D158N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 47 0 0 24 4 14.2857 OSCP1 0 genome.wustl.edu 37 1 36888482 36888482 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 36888482 36888482 T C SNP OSCP1 ENST00000235532 human ensembl 74_37 -1 known silent c.636 p.K212 1.000 NULL pfam_OSCP1 - no_errors OSCP1 HGNC ENSG00000116885 163 0 0 98 6 5.76923 MACF1 0 genome.wustl.edu 37 1 39798125 39798125 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 39798125 39798125 C T SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative silent c.5976 p.A1992 0.000 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 134 0 0 93 18 16.2162 PIK3R3 0 genome.wustl.edu 37 1 46511630 46511630 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 46511630 46511630 G A SNP PIK3R3 ENST00000540385 human ensembl 74_37 -1 known missense c.1285 p.R429C 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 305 0 0 245 31 11.2319 TAS1R1 0 genome.wustl.edu 37 1 6631246 6631246 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 6631246 6631246 G A SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known missense c.469 p.A157T 0.004 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 162 1 0.613497 138 17 10.9677 LRRC7 0 genome.wustl.edu 37 1 70555444 70555444 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 70555444 70555444 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.4373 p.G1458E 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 171 0 0 123 11 8.20896 WDR63 0 genome.wustl.edu 37 1 85546958 85546958 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 85546958 85546958 C A SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.145 p.Q49K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 193 0 0 138 12 8 COL24A1 0 genome.wustl.edu 37 1 86487966 86487966 + Missense_Mutation SNP C C G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 86487966 86487966 C G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2213 p.G738A 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 110 0 0 83 13 13.5417 LRRC8C 0 genome.wustl.edu 37 1 90178825 90178825 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 90178825 90178825 A T SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known missense c.696 p.K232N 0.996 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 153 0 0 136 29 17.5758 BRDT 0 genome.wustl.edu 37 1 92442816 92442816 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 1 92442816 92442816 A G SNP BRDT ENST00000362005 human ensembl 74_37 +1 known missense c.835 p.I279V 0.997 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 176 0 0 156 16 9.30233 GSTO2 0 genome.wustl.edu 37 10 106058933 106058933 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 106058933 106058933 A C SNP GSTO2 ENST00000338595 human ensembl 74_37 +1 known missense c.623 p.K208T 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega - no_errors GSTO2 HGNC ENSG00000065621 190 0 0 201 17 7.79817 TCF7L2 0 genome.wustl.edu 37 10 114710655 114710655 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 114710655 114710655 C T SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.140 p.S47F 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 TCF7L2 HGNC ENSG00000148737 38 0 0 33 9 21.4286 ADRB1 0 genome.wustl.edu 37 10 115804230 115804230 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 115804230 115804230 G A SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known silent c.339 p.P113 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 84 0 0 87 28 24.3478 NMT2 0 genome.wustl.edu 37 10 15174868 15174868 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 15174868 15174868 T G SNP NMT2 ENST00000378165 human ensembl 74_37 -1 known missense c.667 p.K223Q 1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 169 0 0 146 35 19.337 ITGA8 0 genome.wustl.edu 37 10 15639293 15639293 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 15639293 15639293 A G SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known silent c.2124 p.F708 0.056 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 ITGA8 HGNC ENSG00000077943 120 0 0 133 26 16.3522 MASTL 0 genome.wustl.edu 37 10 27470425 27470425 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 27470425 27470425 A C SNP MASTL ENST00000375940 human ensembl 74_37 +1 known missense c.2397 p.E799D 1.000 pfam_Prot_kinase_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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MASTL HGNC ENSG00000120539 230 0 0 202 28 12.1739 DIP2C 0 genome.wustl.edu 37 10 408454 408454 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 408454 408454 G A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.2770 p.P924S 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 93 0 0 96 6 5.88235 ERCC6 0 genome.wustl.edu 37 10 50678377 50678377 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 50678377 50678377 T G SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.3629 p.K1210T 0.390 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 848 0 0 795 78 8.93471 ANK3 0 genome.wustl.edu 37 10 61828586 61828586 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 61828586 61828586 T C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.12053 p.E4018G 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 428 0 0 369 56 13.1765 PCBD1 0 genome.wustl.edu 37 10 72644971 72644971 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 72644971 72644971 T G SNP PCBD1 ENST00000299299 human ensembl 74_37 -1 known silent c.154 p.R52 1.000 pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase - no_errors PCBD1 HGNC ENSG00000166228 108 0 0 107 10 8.54701 CDHR1 0 genome.wustl.edu 37 10 85955269 85955269 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 85955269 85955269 G A SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known silent c.75 p.P25 0.014 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 42 0 0 41 11 21.1538 GRID1 0 genome.wustl.edu 37 10 87628808 87628808 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 87628808 87628808 G T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.910 p.L304M 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 147 0 0 167 9 5.11364 TCTN3 0 genome.wustl.edu 37 10 97440352 97440352 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 10 97440352 97440352 A C SNP TCTN3 ENST00000371217 human ensembl 74_37 -1 known silent c.1467 p.T489 0.998 NULL pfam_DUF1619 - no_errors TCTN3 HGNC ENSG00000119977 177 0 0 180 55 23.4043 DYNC2H1 0 genome.wustl.edu 37 11 102984309 102984309 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 102984309 102984309 A G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.239 p.K80R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 176 0 0 164 9 5.20231 DYNC2H1 0 genome.wustl.edu 37 11 102984404 102984404 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 102984404 102984404 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.334 p.V112I 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 106 0 0 80 13 13.9785 PDGFD 0 genome.wustl.edu 37 11 103814315 103814315 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 103814315 103814315 T G SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known missense c.637 p.K213Q 0.995 NULL pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 64 0 0 65 13 16.6667 DDX10 0 genome.wustl.edu 37 11 108788778 108788778 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 108788778 108788778 T G SNP DDX10 ENST00000526794 human ensembl 74_37 +1 putative missense c.2483 p.L828R 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 132 0 0 99 14 12.3894 ARHGAP20 0 genome.wustl.edu 37 11 110462822 110462822 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 110462822 110462822 C T SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.1022 p.R341Q 0.997 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 249 0 0 216 33 13.253 MIR34C 0 genome.wustl.edu 37 11 111384173 111384173 + RNA SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 111384173 111384173 A G SNP MIR34C ENST00000384831 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR34C HGNC ENSG00000207562 77 0 0 87 5 5.43478 BCO2 0 genome.wustl.edu 37 11 112065392 112065392 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 112065392 112065392 T G SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.650 p.F217C 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 186 0 0 161 25 13.4409 NXPE4 0 genome.wustl.edu 37 11 114453400 114453400 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 114453400 114453400 A G SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known missense c.440 p.L147P 0.565 pfam_NXPH/NXPE,superfamily_Ig_E-set pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 72 0 0 64 10 13.5135 C2CD2L 0 genome.wustl.edu 37 11 118981567 118981567 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 118981567 118981567 A C SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.581 p.N194T 0.999 NULL superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 304 0 0 289 36 11.0769 GRIK4 0 genome.wustl.edu 37 11 120673464 120673464 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 120673464 120673464 A G SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.145 p.K49E 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 122 0 0 124 18 12.6761 TBCEL 0 genome.wustl.edu 37 11 120916421 120916421 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 120916421 120916421 A C SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known missense c.22 p.S8R 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 113 0 0 97 11 10.1852 MICAL2 0 genome.wustl.edu 37 11 12262590 12262590 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 12262590 12262590 C T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.2218 p.R740C 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 219 0 0 198 20 9.17431 MICALCL 0 genome.wustl.edu 37 11 12345546 12345546 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 12345546 12345546 A C SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known silent c.1564 p.R522 0.816 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 113 0 0 87 15 14.7059 CHEK1 0 genome.wustl.edu 37 11 125513723 125513723 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 125513723 125513723 C T SNP CHEK1 ENST00000438015 human ensembl 74_37 +1 known missense c.851 p.S284L 0.872 superfamily_Kinase-like_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 CHEK1 HGNC ENSG00000149554 144 0 0 109 9 7.62712 CDON 0 genome.wustl.edu 37 11 125864268 125864268 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 125864268 125864268 T A SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.2561 p.N854I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,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 CDON HGNC ENSG00000064309 84 0 0 65 9 12.1622 PRMT3 0 genome.wustl.edu 37 11 20473684 20473684 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 20473684 20473684 T A SNP PRMT3 ENST00000331079 human ensembl 74_37 +1 known missense c.1002 p.F334L 1.000 pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 207 0 0 128 17 11.7241 ANO5 0 genome.wustl.edu 37 11 22301112 22301112 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 22301112 22301112 T G SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.2543 p.F848C 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 127 0 0 101 13 11.4035 PAMR1 0 genome.wustl.edu 37 11 35454104 35454104 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 35454104 35454104 T G SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.2014 p.T672P 0.077 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 77 0 0 63 11 14.8649 OR51A7 0 genome.wustl.edu 37 11 4928908 4928908 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 4928908 4928908 C A SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.309 p.F103L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 326 1 0.30581 289 37 11.3497 OR5T3 0 genome.wustl.edu 37 11 56019824 56019824 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 56019824 56019824 A C SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known missense c.149 p.D50A 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 190 0 0 171 13 7.06522 GLYAT 0 genome.wustl.edu 37 11 58480280 58480280 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 58480280 58480280 A G SNP GLYAT ENST00000344743 human ensembl 74_37 -1 known missense c.269 p.L90P 0.829 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 210 0 0 182 23 11.2195 GLYATL1 0 genome.wustl.edu 37 11 58723472 58723472 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 58723472 58723472 G A SNP GLYATL1 ENST00000300079 human ensembl 74_37 +1 known missense c.974 p.C325Y 0.002 pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 140 0 0 124 15 10.7914 AHNAK 0 genome.wustl.edu 37 11 62289401 62289401 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 62289401 62289401 A C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.12488 p.V4163G 0.202 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 289 0 0 257 34 11.6838 AHNAK 0 genome.wustl.edu 37 11 62298592 62298592 + Silent SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 62298592 62298592 T A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.3297 p.P1099 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 407 0 0 321 38 10.585 EML3 0 genome.wustl.edu 37 11 62376884 62376884 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 62376884 62376884 G A SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.700 p.R234C 1.000 pfam_HELP pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 127 0 0 99 15 13.1579 SF1 0 genome.wustl.edu 37 11 64536752 64536752 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 64536752 64536752 T G SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.722 p.K241T 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 161 0 0 122 26 17.5676 PPP2R5B 0 genome.wustl.edu 37 11 64694201 64694201 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 64694201 64694201 C T SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known silent c.217 p.L73 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 89 0 0 82 15 15.4639 DNHD1 0 genome.wustl.edu 37 11 6588890 6588890 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 6588890 6588890 T C SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.12151 p.C4051R 0.099 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 52 0 0 48 8 14.2857 B3GNT1 0 genome.wustl.edu 37 11 66113606 66113606 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 66113606 66113606 C T SNP B3GNT1 ENST00000311181 human ensembl 74_37 -1 known missense c.1162 p.A388T 0.999 NULL NULL - no_errors B3GNT1 HGNC ENSG00000174684 272 0 0 250 38 13.1944 PC 0 genome.wustl.edu 37 11 66617526 66617526 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 66617526 66617526 C T SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.2780 p.S927N 1.000 pfam_Carboxylase_cons_dom,pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 144 0 0 152 12 7.31707 KRTAP5-8 0 genome.wustl.edu 37 11 71249236 71249236 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 71249236 71249236 T G SNP KRTAP5-8 ENST00000398534 human ensembl 74_37 +1 known missense c.135 p.C45W 0.970 NULL NULL - no_errors KRTAP5-8 HGNC ENSG00000241233 283 1 0.352113 212 34 13.8211 KRTAP5-9 0 genome.wustl.edu 37 11 71259851 71259851 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 71259851 71259851 C A SNP KRTAP5-9 ENST00000528743 human ensembl 74_37 +1 known missense c.148 p.P50T 0.804 NULL NULL - no_errors KRTAP5-9 HGNC ENSG00000254997 251 0 0 219 42 16.092 KCTD14 0 genome.wustl.edu 37 11 77727862 77727862 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 77727862 77727862 T C SNP KCTD14 ENST00000353172 human ensembl 74_37 -1 known missense c.545 p.Y182C 0.003 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD14 HGNC ENSG00000151364 261 1 0.381679 281 46 14.0673 ST5 0 genome.wustl.edu 37 11 8732693 8732693 + Nonsense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 8732693 8732693 C T SNP ST5 ENST00000313726 human ensembl 74_37 -1 known nonsense c.2258 p.W753* 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom 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 155 0 0 114 24 17.3913 NOX4 0 genome.wustl.edu 37 11 89073338 89073338 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 89073338 89073338 C A SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.1402 p.D468Y 1.000 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 199 0 0 166 19 10.2703 JRKL 0 genome.wustl.edu 37 11 96125232 96125232 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 11 96125232 96125232 G A SNP JRKL ENST00000332349 human ensembl 74_37 +1 known silent c.1419 p.E473 0.958 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC ENSG00000183340 71 0 0 57 7 10.9375 SLC5A8 0 genome.wustl.edu 37 12 101576638 101576638 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 101576638 101576638 T C SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known missense c.1108 p.K370E 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 166 0 0 133 16 10.7383 NUP37 0 genome.wustl.edu 37 12 102512287 102512287 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 102512287 102512287 C T SNP NUP37 ENST00000251074 human ensembl 74_37 -1 known missense c.10 p.D4N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP37 HGNC ENSG00000075188 227 0 0 195 29 12.9464 MED13L 0 genome.wustl.edu 37 12 116446774 116446774 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 116446774 116446774 T C SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.1444 p.R482G 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 293 0 0 219 27 10.9756 SBNO1 0 genome.wustl.edu 37 12 123805055 123805055 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 123805055 123805055 T G SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.2591 p.K864T 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 214 0 0 184 35 15.9817 SCARB1 0 genome.wustl.edu 37 12 125294827 125294827 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 125294827 125294827 G A SNP SCARB1 ENST00000415380 human ensembl 74_37 -1 known silent c.735 p.F245 0.949 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 60 0 0 42 9 17.6471 FZD10 0 genome.wustl.edu 37 12 130647613 130647613 + Nonsense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 130647613 130647613 C T SNP FZD10 ENST00000539839 human ensembl 74_37 +1 known nonsense c.28 p.Q10* 1.000 NULL NULL - no_errors FZD10 HGNC ENSG00000111432 51 0 0 37 5 11.9048 GRIN2B 0 genome.wustl.edu 37 12 13717464 13717464 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 13717464 13717464 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.2708 p.R903H 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 288 1 0.346021 267 23 7.93103 KCNJ8 0 genome.wustl.edu 37 12 21918912 21918912 + Silent SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 21918912 21918912 G T SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known silent c.1020 p.S340 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 195 0 0 167 21 11.1702 ITPR2 0 genome.wustl.edu 37 12 26875410 26875410 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 26875410 26875410 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.445 p.V149M 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif 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 264 1 0.377358 193 29 13.0631 ITFG2 0 genome.wustl.edu 37 12 2929369 2929369 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 2929369 2929369 A C SNP ITFG2 ENST00000228799 human ensembl 74_37 +1 known missense c.524 p.K175T 1.000 superfamily_WD40_repeat_dom pfam_FG-GAP,superfamily_WD40_repeat_dom - no_errors ITFG2 HGNC ENSG00000111203 33 0 0 33 6 15.3846 LACRT 0 genome.wustl.edu 37 12 55026976 55026976 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 55026976 55026976 C T SNP LACRT ENST00000257867 human ensembl 74_37 -1 known missense c.100 p.E34K 0.000 NULL NULL - no_errors LACRT HGNC ENSG00000135413 371 0 0 328 57 14.8052 ESYT1 0 genome.wustl.edu 37 12 56530645 56530645 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 56530645 56530645 A C SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.1780 p.N594H 0.909 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 141 0 0 133 18 11.9205 MYO1A 0 genome.wustl.edu 37 12 57437101 57437101 + Nonsense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 57437101 57437101 C A SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known nonsense c.934 p.E312* 0.983 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 159 0 0 107 19 15.0794 DPY19L2 0 genome.wustl.edu 37 12 64061913 64061913 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 64061913 64061913 A G SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known silent c.261 p.N87 0.001 NULL pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 189 0 0 163 30 15.544 WIF1 0 genome.wustl.edu 37 12 65460501 65460501 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 65460501 65460501 C T SNP WIF1 ENST00000286574 human ensembl 74_37 -1 known missense c.650 p.R217Q 0.026 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 41 0 0 46 7 13.2075 GLIPR1L2 0 genome.wustl.edu 37 12 75816695 75816695 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 75816695 75816695 C T SNP GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known missense c.596 p.T199M 0.000 superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 336 0 0 252 27 9.67742 E2F7 0 genome.wustl.edu 37 12 77423918 77423918 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 12 77423918 77423918 A C SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.1577 p.L526R 0.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 117 0 0 93 17 15.4545 IRS2 0 genome.wustl.edu 37 13 110434788 110434788 + Nonsense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 13 110434788 110434788 G A SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known nonsense c.3613 p.R1205* 0.051 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 12 0 0 2 2 50 ENSG00000243008 0 genome.wustl.edu 37 13 25157654 25157654 + RNA SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 13 25157654 25157654 T G SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 0.767 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 35 0 0 29 6 17.1429 NBEA 0 genome.wustl.edu 37 13 35692531 35692531 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 13 35692531 35692531 T C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.2163 p.D721 1.000 superfamily_ARM-type_fold 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 23 0 0 12 13 52 NBEA 0 genome.wustl.edu 37 13 36242525 36242525 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 13 36242525 36242525 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.8619 p.D2873 0.994 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 24 0 0 28 6 17.6471 DCLK1 0 genome.wustl.edu 37 13 36424796 36424796 + RNA SNP G G C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 13 36424796 36424796 G C SNP DCLK1 ENST00000460982 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors DCLK1 HGNC ENSG00000133083 57 0 0 74 10 11.9048 PCDH17 0 genome.wustl.edu 37 13 58298873 58298873 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 13 58298873 58298873 A C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.2925 p.V975 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 141 0 0 122 13 9.62963 PCDH9 0 genome.wustl.edu 37 13 67205388 67205388 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 13 67205388 67205388 A G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.3294 p.S1098 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 212 0 0 120 47 28.1437 SLITRK5 0 genome.wustl.edu 37 13 88330472 88330472 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 13 88330472 88330472 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.2829 p.P943 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 237 0 0 146 46 23.9583 MIR369 0 genome.wustl.edu 37 14 101531947 101531947 + RNA SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 101531947 101531947 C T SNP MIR369 ENST00000362155 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR369 HGNC ENSG00000199025 163 0 0 161 22 12.0219 AHNAK2 0 genome.wustl.edu 37 14 105419971 105419971 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 105419971 105419971 G T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.1817 p.T606K 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 845 2 0.236128 639 42 6.1674 RPGRIP1 0 genome.wustl.edu 37 14 21794020 21794020 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 21794020 21794020 G A SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.2398 p.E800K 1.000 superfamily_C2_dom pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 53 0 0 54 16 22.8571 PSMB11 0 genome.wustl.edu 37 14 23511989 23511989 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 23511989 23511989 C T SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known silent c.555 p.Y185 0.941 pfam_Proteasome_sua/b,prints_Pept_T1A_subB pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 91 0 0 80 13 13.9785 TGM1 0 genome.wustl.edu 37 14 24727813 24727813 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 24727813 24727813 G A SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.1226 p.T409I 0.974 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 TGM1 HGNC ENSG00000092295 104 0 0 67 10 12.987 NOVA1 0 genome.wustl.edu 37 14 26949249 26949249 + Silent SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 26949249 26949249 C A SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known silent c.381 p.V127 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 334 0 0 266 17 6.00707 ERO1L 0 genome.wustl.edu 37 14 53119797 53119797 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 53119797 53119797 G A SNP ERO1L ENST00000395686 human ensembl 74_37 -1 known missense c.1045 p.H349Y 1.000 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1L HGNC ENSG00000197930 60 0 0 74 4 5.12821 TMEM30B 0 genome.wustl.edu 37 14 61747020 61747020 + Silent SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 61747020 61747020 G T SNP TMEM30B ENST00000355702 human ensembl 74_37 -1 known silent c.846 p.A282 0.131 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30B HGNC ENSG00000182107 27 0 0 38 4 9.52381 PLEKHG3 0 genome.wustl.edu 37 14 65210268 65210268 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 65210268 65210268 A G SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known silent c.3507 p.S1169 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 60 0 0 43 7 14 SPTB 0 genome.wustl.edu 37 14 65264532 65264532 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 65264532 65264532 A C SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.1097 p.L366R 0.998 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 234 0 0 147 31 17.4157 NRXN3 0 genome.wustl.edu 37 14 79432563 79432563 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 79432563 79432563 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2558 p.G853E 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 135 0 0 105 17 13.9344 STON2 0 genome.wustl.edu 37 14 81864716 81864716 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 81864716 81864716 A G SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.11 p.L4S 0.998 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 48 0 0 46 3 6.12245 FLRT2 0 genome.wustl.edu 37 14 86089254 86089254 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 86089254 86089254 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1396 p.V466I 0.971 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 163 0 0 165 11 6.25 KCNK13 0 genome.wustl.edu 37 14 90650597 90650597 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 90650597 90650597 G A SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known silent c.477 p.S159 0.212 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 168 0 0 134 23 14.6497 TRIP11 0 genome.wustl.edu 37 14 92488050 92488050 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 14 92488050 92488050 G A SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known silent c.438 p.F146 0.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 117 1 0.847458 80 11 12.0879 SNHG14 0 genome.wustl.edu 37 15 25425476 25425476 + RNA SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 15 25425476 25425476 C T SNP SNHG14 ENST00000441592 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 20 0 0 17 7 29.1667 RTF1 0 genome.wustl.edu 37 15 41772842 41772842 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 15 41772842 41772842 C T SNP RTF1 ENST00000389629 human ensembl 74_37 +1 known missense c.2090 p.S697F 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 86 0 0 62 8 11.4286 MGA 0 genome.wustl.edu 37 15 42003309 42003309 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 15 42003309 42003309 A C SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.2846 p.N949T 0.929 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 273 1 0.364964 216 17 7.29614 MYEF2 0 genome.wustl.edu 37 15 48435171 48435171 + Nonsense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 15 48435171 48435171 G T SNP MYEF2 ENST00000324324 human ensembl 74_37 -1 known nonsense c.1737 p.C579* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 222 0 0 141 19 11.875 BBS4 0 genome.wustl.edu 37 15 73029293 73029293 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 15 73029293 73029293 C T SNP BBS4 ENST00000395205 human ensembl 74_37 +1 known missense c.1463 p.T488M 0.713 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors BBS4 HGNC ENSG00000140463 176 0 0 148 16 9.7561 AGBL1 0 genome.wustl.edu 37 15 87531292 87531292 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 15 87531292 87531292 A C SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.3158 p.K1053T 0.001 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 468 0 0 284 42 12.8834 TMC7 0 genome.wustl.edu 37 16 19041646 19041646 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 19041646 19041646 G T SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known missense c.812 p.S271I 1.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 155 1 0.641026 174 22 11.2245 TRAF7 0 genome.wustl.edu 37 16 2222327 2222327 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 2222327 2222327 A C SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known missense c.611 p.E204A 1.000 superfamily_TRAF-like pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 37 0 0 37 9 19.5652 GTF3C1 0 genome.wustl.edu 37 16 27492434 27492434 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 27492434 27492434 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.4162 p.E1388K 0.914 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 211 0 0 188 19 9.17874 MAZ 0 genome.wustl.edu 37 16 29818187 29818187 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 29818187 29818187 C T SNP MAZ ENST00000219782 human ensembl 74_37 +1 known silent c.165 p.S55 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 33 0 0 34 3 8.10811 ADCY9 0 genome.wustl.edu 37 16 4016903 4016903 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 4016903 4016903 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.2935 p.G979S 0.993 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 160 0 0 174 17 8.90052 NETO2 0 genome.wustl.edu 37 16 47143516 47143516 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 47143516 47143516 T G SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.761 p.K254T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 229 0 0 205 18 8.07175 CMIP 0 genome.wustl.edu 37 16 81641288 81641288 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 81641288 81641288 C T SNP CMIP ENST00000537098 human ensembl 74_37 +1 known silent c.417 p.V139 0.990 NULL NULL - no_errors CMIP HGNC ENSG00000153815 127 1 0.78125 128 18 12.3288 USP10 0 genome.wustl.edu 37 16 84797843 84797843 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 84797843 84797843 C T SNP USP10 ENST00000570191 human ensembl 74_37 +1 known silent c.1818 p.I606 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 225 0 0 180 39 17.8082 FBXO31 0 genome.wustl.edu 37 16 87369863 87369863 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 87369863 87369863 C T SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known missense c.740 p.R247Q 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 93 0 0 88 24 21.4286 MYH13 0 genome.wustl.edu 37 17 10215260 10215260 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 10215260 10215260 T C SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.4499 p.E1500G 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 142 0 0 127 15 10.5634 SMYD4 0 genome.wustl.edu 37 17 1703659 1703659 + Silent SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 1703659 1703659 T A SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known silent c.1029 p.T343 0.030 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 151 1 0.657895 147 27 15.5172 MED9 0 genome.wustl.edu 37 17 17394653 17394653 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 17394653 17394653 G A SNP MED9 ENST00000268711 human ensembl 74_37 +1 known silent c.285 p.Q95 1.000 pfam_Mediator_Med9 pfam_Mediator_Med9 - no_errors MED9 HGNC ENSG00000141026 136 0 0 122 17 12.2302 LRRC48 0 genome.wustl.edu 37 17 17900913 17900913 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 17900913 17900913 C T SNP LRRC48 ENST00000313838 human ensembl 74_37 +1 known missense c.964 p.R322C 0.000 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 25 0 0 23 4 14.8148 SPECC1 0 genome.wustl.edu 37 17 20108508 20108508 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 20108508 20108508 A C SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.1146 p.E382D 0.708 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 178 0 0 160 18 10.1124 PROCA1 0 genome.wustl.edu 37 17 27031404 27031404 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 27031404 27031404 T G SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.283 p.T95P 0.929 pfam_PLipase_A2,superfamily_PLipase_A2_dom pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 240 2 0.826446 226 38 14.3939 OR1A1 0 genome.wustl.edu 37 17 3119805 3119805 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 3119805 3119805 T C SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known silent c.891 p.A297 0.457 pfam_7TM_GPCR_olfarory/Srsx pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 212 0 0 127 35 21.6049 GRB7 0 genome.wustl.edu 37 17 37901697 37901697 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 37901697 37901697 T C SNP GRB7 ENST00000445327 human ensembl 74_37 +1 known missense c.1184 p.L395P 1.000 pfam_BPS-dom 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 GRB7 HGNC ENSG00000141738 93 0 0 97 19 16.3793 KRT40 0 genome.wustl.edu 37 17 39140420 39140420 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 39140420 39140420 C T SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known missense c.106 p.G36S 0.012 NULL pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 110 0 0 78 19 19.5876 KRTAP4-7 0 genome.wustl.edu 37 17 39240908 39240908 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 39240908 39240908 T C SNP KRTAP4-7 ENST00000391417 human ensembl 74_37 +1 known silent c.450 p.C150 0.002 NULL pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 13 0 0 8 3 27.2727 KRTAP4-6 0 genome.wustl.edu 37 17 39296526 39296526 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 39296526 39296526 T C SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known missense c.214 p.T72A 0.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 77 0 0 67 8 10.6667 KRT34 0 genome.wustl.edu 37 17 39535633 39535633 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 39535633 39535633 T C SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known missense c.974 p.E325G 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 127 0 0 134 18 11.8421 RND2 0 genome.wustl.edu 37 17 41180175 41180175 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 41180175 41180175 T A SNP RND2 ENST00000544533 human ensembl 74_37 +1 known missense c.398 p.L133Q 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho 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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND2 HGNC ENSG00000108830 82 0 0 89 7 7.29167 SLC4A1 0 genome.wustl.edu 37 17 42338113 42338113 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 42338113 42338113 C T SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.239 p.R80H 0.925 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 77 0 0 50 5 9.09091 CCDC43 0 genome.wustl.edu 37 17 42756257 42756257 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 42756257 42756257 T G SNP CCDC43 ENST00000315286 human ensembl 74_37 -1 known missense c.642 p.K214N 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 79 0 0 63 7 10 ALOX15 0 genome.wustl.edu 37 17 4534935 4534935 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 4534935 4534935 T C SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known missense c.2015 p.Y672C 0.984 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 180 1 0.552486 156 17 9.82659 EPN3 0 genome.wustl.edu 37 17 48614290 48614290 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 48614290 48614290 G A SNP EPN3 ENST00000537145 human ensembl 74_37 +1 known missense c.538 p.E180K 1.000 pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 73 0 0 79 10 11.236 NUP88 0 genome.wustl.edu 37 17 5308509 5308509 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 5308509 5308509 T G SNP NUP88 ENST00000573584 human ensembl 74_37 -1 known missense c.912 p.E304D 1.000 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 92 0 0 86 12 12.2449 MRC2 0 genome.wustl.edu 37 17 60741993 60741993 + Missense_Mutation SNP G G C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 60741993 60741993 G C SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.203 p.C68S 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 122 0 0 120 8 6.25 ABCA10 0 genome.wustl.edu 37 17 67212059 67212059 + Nonsense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 67212059 67212059 C T SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known nonsense c.755 p.W252* 0.909 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 149 0 0 113 11 8.87097 KCNJ16 0 genome.wustl.edu 37 17 68129047 68129047 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 68129047 68129047 A C SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known missense c.819 p.K273N 0.610 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 395 0 0 296 51 14.6974 CLEC10A 0 genome.wustl.edu 37 17 6978394 6978394 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 6978394 6978394 C T SNP CLEC10A ENST00000254868 human ensembl 74_37 -1 known silent c.930 p.Q310 0.000 NULL pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC10A HGNC ENSG00000132514 75 0 0 89 9 9.18367 C1QTNF1 0 genome.wustl.edu 37 17 77043793 77043793 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 77043793 77043793 C T SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.499 p.H167Y 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 93 0 0 84 8 8.69565 RNF213 0 genome.wustl.edu 37 17 78324165 78324165 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 78324165 78324165 A T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.10153 p.I3385F 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 131 0 0 84 10 10.6383 MAPRE2 0 genome.wustl.edu 37 18 32707044 32707044 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 18 32707044 32707044 A C SNP MAPRE2 ENST00000300249 human ensembl 74_37 +1 known missense c.743 p.N248T 1.000 superfamily_EB1_C pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE2 HGNC ENSG00000166974 118 0 0 93 10 9.70874 ZNF532 0 genome.wustl.edu 37 18 56587298 56587298 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 18 56587298 56587298 A G SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known silent c.1779 p.P593 0.971 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 62 0 0 55 6 9.83607 ZNF407 0 genome.wustl.edu 37 18 72344603 72344603 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 18 72344603 72344603 T C SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.1628 p.L543S 0.495 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 411 0 0 337 50 12.9199 DNM2 0 genome.wustl.edu 37 19 10908118 10908118 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 10908118 10908118 T C SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known missense c.1259 p.L420P 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 142 0 0 137 18 11.6129 ZNF823 0 genome.wustl.edu 37 19 11832957 11832957 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 11832957 11832957 A G SNP ZNF823 ENST00000341191 human ensembl 74_37 -1 known silent c.1392 p.T464 0.028 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 ZNF823 HGNC ENSG00000197933 218 2 0.909091 177 27 13.2353 ZNF20 0 genome.wustl.edu 37 19 12246374 12246374 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 12246374 12246374 T C SNP ZNF20 ENST00000334213 human ensembl 74_37 -1 known silent c.141 p.G47 0.019 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF20 HGNC ENSG00000132010 124 0 0 104 10 8.77193 ZNF564 0 genome.wustl.edu 37 19 12637395 12637395 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 12637395 12637395 T G SNP ZNF564 ENST00000339282 human ensembl 74_37 -1 known missense c.1527 p.Q509H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF564 HGNC ENSG00000249709 162 0 0 202 31 13.3047 FARSA 0 genome.wustl.edu 37 19 13033608 13033608 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 13033608 13033608 C T SNP FARSA ENST00000314606 human ensembl 74_37 -1 known missense c.1481 p.R494H 1.000 pfscan_aa-tRNA-synth_II pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu - no_errors FARSA HGNC ENSG00000179115 178 0 0 178 17 8.71795 TSSK6 0 genome.wustl.edu 37 19 19625642 19625642 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 19625642 19625642 C T SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known missense c.595 p.G199S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 55 0 0 61 24 28.2353 ZNF208 0 genome.wustl.edu 37 19 22156857 22156857 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 22156857 22156857 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.979 p.T327A 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 ZNF208 HGNC ENSG00000160321 80 0 0 75 49 39.5161 ZNF257 0 genome.wustl.edu 37 19 22270892 22270892 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 22270892 22270892 A G SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.340 p.R114G 0.005 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 ZNF257 HGNC ENSG00000197134 101 0 0 87 12 12.1212 JSRP1 0 genome.wustl.edu 37 19 2252554 2252554 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 2252554 2252554 T G SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known missense c.770 p.K257T 0.000 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 80 0 0 82 13 13.6842 SPPL2B 0 genome.wustl.edu 37 19 2337467 2337467 + RNA SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 2337467 2337467 C T SNP SPPL2B ENST00000382189 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SPPL2B HGNC ENSG00000005206 91 0 0 80 24 23.0769 ZNF585A 0 genome.wustl.edu 37 19 37642537 37642537 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 37642537 37642537 A C SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known missense c.2264 p.F755C 0.799 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 ZNF585A HGNC ENSG00000196967 153 0 0 131 15 10.274 FCGBP 0 genome.wustl.edu 37 19 40366468 40366468 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 40366468 40366468 A G SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.13766 p.L4589P 0.154 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 90 0 0 68 15 18.0723 ZNF780A 0 genome.wustl.edu 37 19 40580508 40580508 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 40580508 40580508 T C SNP ZNF780A ENST00000455521 human ensembl 74_37 -1 known missense c.1844 p.E615G 0.024 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 ZNF780A HGNC ENSG00000197782 276 0 0 261 25 8.74126 MAP2K2 0 genome.wustl.edu 37 19 4117551 4117551 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 4117551 4117551 A C SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known missense c.169 p.F57V 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_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 127 0 0 113 15 11.7188 CYP2B6 0 genome.wustl.edu 37 19 41518644 41518644 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 41518644 41518644 C T SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known silent c.1218 p.D406 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 400 2 0.497512 330 91 21.6152 CYP2A13 0 genome.wustl.edu 37 19 41596320 41596320 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 41596320 41596320 G A SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.505 p.D169N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 134 0 0 140 13 8.49673 ZNF223 0 genome.wustl.edu 37 19 44564948 44564948 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 44564948 44564948 A C SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known missense c.519 p.E173D 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF223 Uniprot_gn ENSG00000267022 417 0 0 365 45 10.9756 ZNF225 0 genome.wustl.edu 37 19 44636097 44636097 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 44636097 44636097 G A SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.1330 p.D444N 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 ZNF225 HGNC ENSG00000256294 135 0 0 134 14 9.45946 ZNF112 0 genome.wustl.edu 37 19 44833807 44833807 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 44833807 44833807 T G SNP ZNF112 ENST00000536500 human ensembl 74_37 -1 known missense c.572 p.Y191S 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 ZNF112 HGNC ENSG00000062370 249 0 0 251 17 6.34328 ZNF180 0 genome.wustl.edu 37 19 44982338 44982338 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 44982338 44982338 T C SNP ZNF180 ENST00000586637 human ensembl 74_37 -1 putative missense c.388 p.R130G 0.021 NULL NULL - no_errors ZNF180 HGNC ENSG00000167384 145 0 0 112 12 9.67742 DHDH 0 genome.wustl.edu 37 19 49447725 49447725 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 49447725 49447725 A T SNP DHDH ENST00000221403 human ensembl 74_37 +1 known missense c.856 p.S286C 0.014 NULL pfam_Oxidoreductase_N - no_errors DHDH HGNC ENSG00000104808 97 0 0 104 14 11.8644 NR1H2 0 genome.wustl.edu 37 19 50881883 50881883 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 50881883 50881883 T C SNP NR1H2 ENST00000253727 human ensembl 74_37 +1 known missense c.577 p.S193P 0.004 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 46 0 0 43 9 17.3077 ZNF808 0 genome.wustl.edu 37 19 53057134 53057134 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 53057134 53057134 A C SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.965 p.K322T 0.159 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 ZNF808 HGNC ENSG00000198482 272 0 0 250 32 11.3475 ZNF160 0 genome.wustl.edu 37 19 53571418 53571418 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 53571418 53571418 T G SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known missense c.2369 p.K790T 0.060 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 ZNF160 HGNC ENSG00000170949 275 0 0 253 31 10.9155 ZNF677 0 genome.wustl.edu 37 19 53741755 53741755 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 53741755 53741755 C A SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.225 p.E75D 0.000 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 ZNF677 HGNC ENSG00000197928 173 0 0 165 24 12.6984 PRPF31 0 genome.wustl.edu 37 19 54627955 54627955 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 54627955 54627955 C T SNP PRPF31 ENST00000321030 human ensembl 74_37 +1 known silent c.775 p.L259 0.997 pfam_Nop_dom pfam_Nop_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 77 0 0 87 7 7.44681 BRSK1 0 genome.wustl.edu 37 19 55813018 55813018 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 55813018 55813018 A C SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known silent c.865 p.R289 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 23 0 0 23 4 14.8148 ZNF211 0 genome.wustl.edu 37 19 58152729 58152729 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 58152729 58152729 A G SNP ZNF211 ENST00000240731 human ensembl 74_37 +1 known missense c.914 p.K305R 0.904 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 ZNF211 HGNC ENSG00000121417 169 0 0 157 20 11.2994 FBN3 0 genome.wustl.edu 37 19 8196690 8196690 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 8196690 8196690 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.1738 p.G580S 0.998 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 28 0 0 14 4 22.2222 MUC16 0 genome.wustl.edu 37 19 9048508 9048508 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 9048508 9048508 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.33123 p.V11041 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 153 0 0 145 12 7.64331 MUC16 0 genome.wustl.edu 37 19 9069337 9069337 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 9069337 9069337 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18109 p.G6037R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 341 0 0 344 45 11.5681 MUC16 0 genome.wustl.edu 37 19 9076788 9076788 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 9076788 9076788 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.10658 p.T3553I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 228 0 0 273 16 5.53633 MUC16 0 genome.wustl.edu 37 19 9086693 9086693 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 9086693 9086693 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5122 p.T1708P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 232 0 0 259 24 8.48057 ZNF560 0 genome.wustl.edu 37 19 9577597 9577597 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 9577597 9577597 T G SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.2026 p.K676Q 0.002 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 ZNF560 HGNC ENSG00000198028 344 0 0 383 41 9.66981 ZNF846 0 genome.wustl.edu 37 19 9868802 9868802 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 9868802 9868802 T C SNP ZNF846 ENST00000397902 human ensembl 74_37 -1 known silent c.951 p.K317 0.825 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 200 0 0 215 27 11.157 OLFM2 0 genome.wustl.edu 37 19 9967528 9967528 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 19 9967528 9967528 G A SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known silent c.642 p.F214 0.322 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 46 0 0 39 4 9.30233 TAF1B 0 genome.wustl.edu 37 2 10074061 10074061 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 10074061 10074061 A C SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known missense c.1715 p.K572T 1.000 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 64 0 0 82 14 14.5833 SLC9A2 0 genome.wustl.edu 37 2 103281748 103281748 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 103281748 103281748 T G SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known missense c.943 p.F315V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 250 0 0 277 25 8.27815 RGPD4 0 genome.wustl.edu 37 2 108476224 108476224 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 108476224 108476224 A C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.1681 p.N561H 0.693 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 246 0 0 205 15 6.81818 RANBP2 0 genome.wustl.edu 37 2 109371385 109371385 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 109371385 109371385 A C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2227 p.K743Q 0.205 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 509 0 0 438 52 10.6122 THSD7B 0 genome.wustl.edu 37 2 138033526 138033526 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 138033526 138033526 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.2430 p.L810 0.956 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 63 0 0 63 5 7.35294 LRP1B 0 genome.wustl.edu 37 2 141032079 141032079 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 141032079 141032079 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13056 p.E4352D 1.000 smart_EG-like_dom,pfscan_EG-like_dom 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 186 0 0 190 22 10.3774 LRP1B 0 genome.wustl.edu 37 2 141128301 141128301 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 141128301 141128301 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.10986 p.S3662 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,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 470 1 0.212314 489 45 8.42697 TPO 0 genome.wustl.edu 37 2 1507813 1507813 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 1507813 1507813 A T SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2480 p.D827V 0.951 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 84 0 0 76 18 19.1489 NEB 0 genome.wustl.edu 37 2 152573961 152573961 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 152573961 152573961 A C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.791 p.F264C 1.000 pfam_Nebulin_35r-motif,superfamily_6-PGluconate_DH_C-like,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 77 0 0 74 5 6.32911 SLC38A11 0 genome.wustl.edu 37 2 165796034 165796034 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 165796034 165796034 A C SNP SLC38A11 ENST00000409149 human ensembl 74_37 -1 known missense c.295 p.F99V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A11 HGNC ENSG00000169507 135 0 0 144 16 10 CSRNP3 0 genome.wustl.edu 37 2 166451672 166451672 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 166451672 166451672 A C SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.97 p.S33R 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 210 0 0 182 34 15.7407 XIRP2 0 genome.wustl.edu 37 2 168099931 168099931 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 168099931 168099931 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.2029 p.A677T 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 121 0 0 136 29 17.5758 B3GALT1 0 genome.wustl.edu 37 2 168725733 168725733 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 168725733 168725733 T G SNP B3GALT1 ENST00000305861 human ensembl 74_37 +1 known missense c.184 p.S62A 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC ENSG00000172318 192 0 0 184 38 17.1171 KLHL23 0 genome.wustl.edu 37 2 170592685 170592685 + Missense_Mutation SNP G G C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 170592685 170592685 G C SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known missense c.1161 p.E387D 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 284 0 0 232 62 21.0884 TTN 0 genome.wustl.edu 37 2 179490044 179490044 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 179490044 179490044 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.36800 p.L12267R 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 482 0 0 493 51 9.375 TTN 0 genome.wustl.edu 37 2 179592845 179592845 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 179592845 179592845 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15974 p.T5325N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 63 0 0 53 13 19.697 TTN 0 genome.wustl.edu 37 2 179598199 179598199 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 179598199 179598199 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.12089 p.A4030V 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 247 1 0.403226 284 30 9.55414 TTN 0 genome.wustl.edu 37 2 179642153 179642153 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 179642153 179642153 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4639 p.V1547M 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 66 0 0 77 7 8.33333 DNAH7 0 genome.wustl.edu 37 2 196682507 196682507 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 196682507 196682507 T G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.9338 p.Q3113P 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 112 1 0.884956 118 12 9.23077 DNAH7 0 genome.wustl.edu 37 2 196729698 196729698 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 196729698 196729698 G T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.6681 p.S2227R 0.021 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 DNAH7 HGNC ENSG00000118997 215 0 0 202 42 17.2131 HECW2 0 genome.wustl.edu 37 2 197183343 197183343 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 197183343 197183343 T G SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.2271 p.E757D 0.041 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 109 0 0 113 24 17.5182 SGOL2 0 genome.wustl.edu 37 2 201434462 201434462 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 201434462 201434462 A C SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.550 p.T184P 0.029 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 166 0 0 165 25 13.1579 SGOL2 0 genome.wustl.edu 37 2 201437583 201437583 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 201437583 201437583 A C SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.2514 p.K838N 0.005 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 199 0 0 245 30 10.9091 KANSL1L 0 genome.wustl.edu 37 2 211019060 211019060 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 211019060 211019060 T G SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.247 p.M83L 1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 166 0 0 196 20 9.25926 CPS1 0 genome.wustl.edu 37 2 211540529 211540529 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 211540529 211540529 A G SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known silent c.4257 p.Q1419 0.998 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 72 0 0 73 9 10.9756 APOB 0 genome.wustl.edu 37 2 21225959 21225959 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 21225959 21225959 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.12335 p.A4112D 0.716 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 331 0 0 406 40 8.96861 ERBB4 0 genome.wustl.edu 37 2 212566700 212566700 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 212566700 212566700 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1481 p.E494G 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 289 0 0 242 33 12 ABCA12 0 genome.wustl.edu 37 2 215840618 215840618 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 215840618 215840618 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.5272 p.V1758I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 190 0 0 198 18 8.33333 XRCC5 0 genome.wustl.edu 37 2 217001884 217001884 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 217001884 217001884 C T SNP XRCC5 ENST00000392132 human ensembl 74_37 +1 known missense c.1187 p.A396V 0.997 pfam_Ku70/Ku80_beta-barrel_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 235 0 0 242 27 10.0372 USP37 0 genome.wustl.edu 37 2 219341575 219341575 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 219341575 219341575 T C SNP USP37 ENST00000258399 human ensembl 74_37 -1 known silent c.2031 p.E677 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 138 1 0.719424 141 21 12.963 DES 0 genome.wustl.edu 37 2 220286142 220286142 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 220286142 220286142 G A SNP DES ENST00000373960 human ensembl 74_37 +1 known silent c.1104 p.A368 0.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors DES HGNC ENSG00000175084 55 0 0 68 11 13.9241 SERPINE2 0 genome.wustl.edu 37 2 224866577 224866577 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 224866577 224866577 G A SNP SERPINE2 ENST00000258405 human ensembl 74_37 -1 known missense c.41 p.T14M 0.812 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 164 0 0 183 17 8.5 DAW1 0 genome.wustl.edu 37 2 228769686 228769686 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 228769686 228769686 A C SNP DAW1 ENST00000309931 human ensembl 74_37 +1 known silent c.690 p.S230 0.940 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,prints_G-protein_beta_WD-40_rep - no_errors DAW1 HGNC ENSG00000123977 329 0 0 269 27 9.12162 SLC16A14 0 genome.wustl.edu 37 2 230902235 230902235 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 230902235 230902235 T G SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.1394 p.D465A 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 134 0 0 130 8 5.7971 COL6A3 0 genome.wustl.edu 37 2 238289663 238289663 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 238289663 238289663 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.1792 p.D598N 0.706 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 98 0 0 113 16 12.4031 PPP1R7 0 genome.wustl.edu 37 2 242105831 242105831 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 242105831 242105831 A C SNP PPP1R7 ENST00000234038 human ensembl 74_37 +1 known missense c.794 p.E265A 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors PPP1R7 HGNC ENSG00000115685 43 0 0 48 6 11.1111 ITSN2 0 genome.wustl.edu 37 2 24523025 24523025 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 24523025 24523025 T G SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.1097 p.K366T 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 272 0 0 285 29 9.23567 NLRC4 0 genome.wustl.edu 37 2 32476658 32476658 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 32476658 32476658 T A SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.275 p.Q92L 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 136 0 0 159 15 8.62069 BIRC6 0 genome.wustl.edu 37 2 32678936 32678936 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 32678936 32678936 T C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.4679 p.L1560P 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 294 0 0 318 29 8.35735 PLEKHH2 0 genome.wustl.edu 37 2 43924480 43924480 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 43924480 43924480 G A SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.673 p.G225R 0.926 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 94 0 0 115 13 10.1562 SPTBN1 0 genome.wustl.edu 37 2 54872493 54872493 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 54872493 54872493 A C SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.4397 p.K1466T 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 144 0 0 168 17 9.18919 REL 0 genome.wustl.edu 37 2 61145345 61145345 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 61145345 61145345 A C SNP REL ENST00000295025 human ensembl 74_37 +1 known missense c.555 p.E185D 1.000 superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors REL HGNC ENSG00000162924 77 0 0 77 9 10.4651 LOC101929518 0 genome.wustl.edu 37 2 95558407 95558407 + RNA SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 95558407 95558407 A G SNP LOC101929518 ENST00000582835 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC097374.2 Clone_based_vega_gene ENSG00000259848 37 0 0 57 4 6.55738 NAA20 0 genome.wustl.edu 37 20 19998682 19998682 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 19998682 19998682 C T SNP NAA20 ENST00000398602 human ensembl 74_37 +1 novel missense c.14 p.S5L 0.000 pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA20 HGNC ENSG00000173418 292 0 0 277 33 10.6452 C20orf26 0 genome.wustl.edu 37 20 20056254 20056254 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 20056254 20056254 A G SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.561 p.K187 0.449 superfamily_Acyl_CoA_acyltransferase superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 176 0 0 162 46 22.1154 NKX2-2 0 genome.wustl.edu 37 20 21494272 21494272 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 21494272 21494272 G A SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known silent c.36 p.V12 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 170 0 0 124 23 15.6463 TGM3 0 genome.wustl.edu 37 20 2315813 2315813 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 2315813 2315813 A G SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.1694 p.K565R 0.932 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 164 0 0 167 18 9.72973 SYNDIG1 0 genome.wustl.edu 37 20 24523780 24523780 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 24523780 24523780 T C SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.47 p.I16T 0.442 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 124 0 0 146 20 12.0482 HCK 0 genome.wustl.edu 37 20 30674564 30674564 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 30674564 30674564 G A SNP HCK ENST00000375852 human ensembl 74_37 +1 known silent c.969 p.V323 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 73 0 0 75 22 22.6804 RALY 0 genome.wustl.edu 37 20 32660008 32660008 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 32660008 32660008 C T SNP RALY ENST00000246194 human ensembl 74_37 +1 known missense c.128 p.S43F 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 150 0 0 157 32 16.9312 CNBD2 0 genome.wustl.edu 37 20 34571996 34571996 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 34571996 34571996 A C SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known missense c.500 p.E167A 0.139 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 123 0 0 139 28 16.7665 EMILIN3 0 genome.wustl.edu 37 20 39990482 39990482 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 39990482 39990482 G A SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known missense c.1727 p.T576M 0.000 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 218 0 0 225 17 7.02479 MC3R 0 genome.wustl.edu 37 20 54824097 54824097 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 54824097 54824097 C T SNP MC3R ENST00000243911 human ensembl 74_37 +1 known silent c.198 p.N66 0.662 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 124 0 0 117 14 10.687 CDH26 0 genome.wustl.edu 37 20 58559774 58559774 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 58559774 58559774 T C SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.622 p.S208P 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 285 0 0 259 34 11.6041 CDH26 0 genome.wustl.edu 37 20 58559811 58559811 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 58559811 58559811 T G SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.659 p.V220G 0.012 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 257 1 0.387597 263 39 12.9139 TAF4 0 genome.wustl.edu 37 20 60587991 60587991 + Splice_Site SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 60587991 60587991 C T SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known splice_site c.1522-1 e3-1 1.000 - - - no_errors TAF4 HGNC ENSG00000130699 97 0 0 127 41 24.4048 TCFL5 0 genome.wustl.edu 37 20 61485451 61485451 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 61485451 61485451 C T SNP TCFL5 ENST00000335351 human ensembl 74_37 -1 known missense c.1297 p.E433K 0.982 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCFL5 HGNC ENSG00000101190 139 0 0 141 14 9.03226 DIDO1 0 genome.wustl.edu 37 20 61513128 61513128 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 20 61513128 61513128 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.4180 p.E1394K 0.122 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 135 0 0 170 23 11.9171 GRIK1 0 genome.wustl.edu 37 21 31027143 31027143 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 21 31027143 31027143 A C SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.767 p.F256C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 382 0 0 324 33 9.2437 ERG 0 genome.wustl.edu 37 21 39795341 39795341 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 21 39795341 39795341 C T SNP ERG ENST00000398919 human ensembl 74_37 -1 known missense c.400 p.V134M 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 64 0 0 58 6 9.375 BACE2 0 genome.wustl.edu 37 21 42647325 42647325 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 21 42647325 42647325 T G SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known missense c.1331 p.I444S 1.000 superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 154 1 0.645161 137 26 15.9509 COL6A2 0 genome.wustl.edu 37 21 47536587 47536587 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 21 47536587 47536587 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.950 p.R317H 0.964 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 79 0 0 41 13 24.0741 MYO18B 0 genome.wustl.edu 37 22 26423450 26423450 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 22 26423450 26423450 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7510 p.H2504Y 0.986 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 58 0 0 51 5 8.92857 TRIOBP 0 genome.wustl.edu 37 22 38120199 38120199 + Nonsense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 22 38120199 38120199 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known nonsense c.1636 p.R546* 0.003 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 272 1 0.3663 253 18 6.64207 XRCC6 0 genome.wustl.edu 37 22 42054327 42054327 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 22 42054327 42054327 T G SNP XRCC6 ENST00000359308 human ensembl 74_37 +1 known missense c.1493 p.M498R 1.000 pirsf_Ku70,pfam_Ku_C,superfamily_SPOC_like_C_dom,tigrfam_Ku70 pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 115 0 0 82 28 25.4545 LMF2 0 genome.wustl.edu 37 22 50941834 50941834 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 22 50941834 50941834 G A SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known missense c.2110 p.R704W 0.726 NULL pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 48 0 0 41 3 6.81818 ZBTB11 0 genome.wustl.edu 37 3 101371354 101371354 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 101371354 101371354 A C SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.2630 p.M877R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 242 0 0 213 30 12.3457 ALCAM 0 genome.wustl.edu 37 3 105243281 105243281 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 105243281 105243281 A C SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.323 p.E108A 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 224 0 0 206 35 14.5228 IFT57 0 genome.wustl.edu 37 3 107881466 107881466 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 107881466 107881466 A G SNP IFT57 ENST00000264538 human ensembl 74_37 -1 known missense c.1148 p.L383P 1.000 pfam_Intra-flagellar_transport_57 pfam_Intra-flagellar_transport_57,superfamily_t-SNARE - no_errors IFT57 HGNC ENSG00000114446 126 0 0 121 17 12.3188 MYH15 0 genome.wustl.edu 37 3 108118049 108118049 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 108118049 108118049 A T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.4862 p.I1621N 0.270 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 236 0 0 208 23 9.95671 SLC6A11 0 genome.wustl.edu 37 3 10861460 10861460 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 10861460 10861460 C T SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.455 p.A152V 1.000 pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 274 0 0 211 43 16.9291 GRAMD1C 0 genome.wustl.edu 37 3 113652477 113652477 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 113652477 113652477 T G SNP GRAMD1C ENST00000358160 human ensembl 74_37 +1 known silent c.1329 p.S443 0.616 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC ENSG00000178075 158 0 0 183 24 11.5942 ZDHHC23 0 genome.wustl.edu 37 3 113672689 113672689 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 113672689 113672689 T G SNP ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known missense c.304 p.F102V 0.402 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 424 0 0 392 58 12.8889 PARP9 0 genome.wustl.edu 37 3 122264287 122264287 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 122264287 122264287 T G SNP PARP9 ENST00000360356 human ensembl 74_37 -1 known missense c.1481 p.N494T 0.000 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 152 0 0 132 23 14.8387 DIRC2 0 genome.wustl.edu 37 3 122591434 122591434 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 122591434 122591434 T G SNP DIRC2 ENST00000261038 human ensembl 74_37 +1 known missense c.1311 p.F437L 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 171 0 0 127 14 9.92908 KY 0 genome.wustl.edu 37 3 134343930 134343930 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 134343930 134343930 G T SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.448 p.Q150K 0.011 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 16 0 0 22 4 15.3846 DZIP1L 0 genome.wustl.edu 37 3 137786411 137786411 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 137786411 137786411 G A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.1964 p.T655I 0.236 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 93 0 0 110 17 13.3858 CLSTN2 0 genome.wustl.edu 37 3 140275381 140275381 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 140275381 140275381 C T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known silent c.1701 p.I567 0.298 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 363 0 0 329 37 10.1093 IGSF10 0 genome.wustl.edu 37 3 151155183 151155183 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 151155183 151155183 A G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.7166 p.L2389P 0.003 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 298 0 0 298 42 12.3529 KCNAB1 0 genome.wustl.edu 37 3 156170727 156170727 + Splice_Site SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 156170727 156170727 T C SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known splice_site c.357+2 e3+2 1.000 - - - no_errors KCNAB1 HGNC ENSG00000169282 226 0 0 288 20 6.49351 SHOX2 0 genome.wustl.edu 37 3 157818055 157818055 + Missense_Mutation SNP G G C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 157818055 157818055 G C SNP SHOX2 ENST00000389589 human ensembl 74_37 -1 known missense c.673 p.Q225E 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX2 HGNC ENSG00000168779 128 0 0 148 28 15.9091 PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1035 p.N345K 1.000 superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_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 PIK3CA HGNC ENSG00000121879 205 0 0 190 32 14.4144 USP13 0 genome.wustl.edu 37 3 179426569 179426569 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 179426569 179426569 A T SNP USP13 ENST00000263966 human ensembl 74_37 +1 known missense c.629 p.K210M 1.000 smart_Znf_UBP,pirsf_Ubiquitinyl_hydrolase,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 177 0 0 181 12 6.21762 EIF2B5 0 genome.wustl.edu 37 3 183861999 183861999 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 183861999 183861999 T C SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known missense c.1982 p.I661T 0.116 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 349 0 0 295 41 12.2024 PSMD2 0 genome.wustl.edu 37 3 184023845 184023845 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 184023845 184023845 A C SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.1706 p.K569T 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 146 0 0 150 20 11.7647 VPS8 0 genome.wustl.edu 37 3 184700383 184700383 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 184700383 184700383 G A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.3450 p.M1150I 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 106 1 0.934579 104 23 18.1102 MAP3K13 0 genome.wustl.edu 37 3 185191526 185191526 + Nonsense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 185191526 185191526 C T SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known nonsense c.2407 p.R803* 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 194 0 0 190 21 9.95261 KCNH8 0 genome.wustl.edu 37 3 19492867 19492867 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 19492867 19492867 T G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1796 p.L599R 0.995 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 164 0 0 137 29 17.4699 CMTM6 0 genome.wustl.edu 37 3 32525568 32525568 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 32525568 32525568 A C SNP CMTM6 ENST00000205636 human ensembl 74_37 -1 known missense c.436 p.F146V 0.002 pfam_Marvel pfam_Marvel - no_errors CMTM6 HGNC ENSG00000091317 249 0 0 202 18 8.18182 GOLGA4 0 genome.wustl.edu 37 3 37368800 37368800 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 37368800 37368800 A G SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.5423 p.Y1808C 0.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 114 0 0 110 8 6.77966 ITGA9 0 genome.wustl.edu 37 3 37574896 37574896 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 37574896 37574896 G T SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known missense c.1465 p.V489L 0.877 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 71 0 0 42 13 23.6364 CHL1 0 genome.wustl.edu 37 3 447378 447378 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 447378 447378 T A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.3659 p.F1220Y 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 114 0 0 94 12 11.3208 NME6 0 genome.wustl.edu 37 3 48336623 48336623 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 48336623 48336623 T C SNP NME6 ENST00000450160 human ensembl 74_37 -1 known missense c.296 p.Q99R 0.299 smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase - no_errors NME6 HGNC ENSG00000172113 95 0 0 68 13 16.0494 PBRM1 0 genome.wustl.edu 37 3 52620667 52620667 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 52620667 52620667 T A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.3161 p.E1054V 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 139 0 0 91 16 14.9533 IL17RD 0 genome.wustl.edu 37 3 57131970 57131970 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 57131970 57131970 A C SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known silent c.1761 p.V587 0.304 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 52 0 0 42 9 17.6471 LMCD1 0 genome.wustl.edu 37 3 8543665 8543665 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 8543665 8543665 A T SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known missense c.41 p.K14M 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 81 0 0 63 7 10 EPHA3 0 genome.wustl.edu 37 3 89498524 89498524 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 89498524 89498524 T C SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.2496 p.D832 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 240 0 0 147 30 16.9492 SRGAP3 0 genome.wustl.edu 37 3 9055164 9055164 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 9055164 9055164 A C SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.1975 p.F659V 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 106 0 0 64 17 20.9877 PROS1 0 genome.wustl.edu 37 3 93596037 93596037 + Splice_Site SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 93596037 93596037 T A SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known splice_site c.1645-2 e14-2 1.000 - - - no_errors PROS1 HGNC ENSG00000184500 75 0 0 71 5 6.57895 ARL6 0 genome.wustl.edu 37 3 97516986 97516986 + RNA SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 97516986 97516986 A C SNP ARL6 ENST00000494363 human ensembl 74_37 +1 known rna NULL NULL 0.249 - - - no_errors ARL6 HGNC ENSG00000113966 104 0 0 107 15 12.2951 OR5H1 0 genome.wustl.edu 37 3 97852429 97852429 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 3 97852429 97852429 A T SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known missense c.888 p.Q296H 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 216 0 0 176 21 10.6599 TACR3 0 genome.wustl.edu 37 4 104511116 104511116 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 104511116 104511116 C T SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.1121 p.C374Y 1.000 prints_Neurokn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 133 0 0 122 20 14.0845 PPA2 0 genome.wustl.edu 37 4 106320269 106320269 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 106320269 106320269 A C SNP PPA2 ENST00000357415 human ensembl 74_37 -1 known missense c.753 p.N251K 1.000 pfam_Pyrophosphatase,superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA2 HGNC ENSG00000138777 227 0 0 171 31 15.3465 TBCK 0 genome.wustl.edu 37 4 107016730 107016730 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 107016730 107016730 T A SNP TBCK ENST00000273980 human ensembl 74_37 -1 known missense c.2480 p.E827V 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 152 0 0 142 24 14.4578 ANK2 0 genome.wustl.edu 37 4 114279513 114279513 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 114279513 114279513 T C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.9739 p.S3247P 0.003 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 231 0 0 214 40 15.748 ANK2 0 genome.wustl.edu 37 4 114302620 114302620 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 114302620 114302620 A T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.11867 p.N3956I 0.534 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 95 0 0 87 11 11.2245 MYOZ2 0 genome.wustl.edu 37 4 120107204 120107204 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 120107204 120107204 C T SNP MYOZ2 ENST00000307128 human ensembl 74_37 +1 known missense c.644 p.T215I 1.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ2 HGNC ENSG00000172399 214 0 0 189 21 10 PET112 0 genome.wustl.edu 37 4 152638205 152638205 + Nonsense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 152638205 152638205 G A SNP PET112 ENST00000263985 human ensembl 74_37 -1 known nonsense c.463 p.Q155* 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 230 0 0 186 22 10.5769 TDO2 0 genome.wustl.edu 37 4 156841122 156841122 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 156841122 156841122 A G SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known missense c.1201 p.S401G 1.000 NULL pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 117 0 0 114 6 5 PRIMPOL 0 genome.wustl.edu 37 4 185593465 185593465 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 185593465 185593465 A C SNP PRIMPOL ENST00000314970 human ensembl 74_37 +1 known missense c.695 p.K232T 0.001 pfam_DNA_primase_S pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S - no_errors PRIMPOL HGNC ENSG00000164306 145 0 0 124 22 15.0685 POLN 0 genome.wustl.edu 37 4 2077220 2077220 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 2077220 2077220 A G SNP POLN ENST00000382865 human ensembl 74_37 -1 known missense c.2414 p.L805P 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 87 0 0 66 12 15.3846 SLC10A4 0 genome.wustl.edu 37 4 48490855 48490855 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 48490855 48490855 T C SNP SLC10A4 ENST00000273861 human ensembl 74_37 +1 known missense c.1213 p.S405P 1.000 NULL pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 130 0 0 112 7 5.88235 JAKMIP1 0 genome.wustl.edu 37 4 6082037 6082037 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 6082037 6082037 T C SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.1104 p.K368 0.990 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 55 0 0 40 6 13.0435 UGT2B7 0 genome.wustl.edu 37 4 69964267 69964267 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 69964267 69964267 C T SNP UGT2B7 ENST00000305231 human ensembl 74_37 +1 known missense c.731 p.T244I 0.978 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 253 0 0 204 24 10.5263 UGT2B7 0 genome.wustl.edu 37 4 69973826 69973826 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 69973826 69973826 C T SNP UGT2B7 ENST00000305231 human ensembl 74_37 +1 known missense c.1096 p.P366S 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 254 0 0 205 27 11.6379 ANKRD17 0 genome.wustl.edu 37 4 74019707 74019707 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 74019707 74019707 C T SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.1124 p.G375E 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_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 310 0 0 238 30 11.194 NUP54 0 genome.wustl.edu 37 4 77053844 77053844 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 77053844 77053844 G A SNP NUP54 ENST00000264883 human ensembl 74_37 -1 known missense c.739 p.R247C 1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 131 0 0 125 24 16.1074 SEC31A 0 genome.wustl.edu 37 4 83774845 83774845 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 83774845 83774845 T A SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known missense c.2032 p.N678Y 0.978 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 138 0 0 131 23 14.9351 PTPN13 0 genome.wustl.edu 37 4 87684297 87684297 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 4 87684297 87684297 A T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.3971 p.D1324V 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 180 0 0 183 26 12.4402 PPIP5K2 0 genome.wustl.edu 37 5 102494226 102494226 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 102494226 102494226 A G SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.1686 p.I562M 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 156 0 0 131 19 12.6667 DNAH5 0 genome.wustl.edu 37 5 13769199 13769199 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 13769199 13769199 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9767 p.K3256T 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 DNAH5 HGNC ENSG00000039139 625 0 0 679 49 6.73077 CXXC5 0 genome.wustl.edu 37 5 139060445 139060445 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 139060445 139060445 T A SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known missense c.337 p.S113T 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 144 0 0 91 10 9.90099 PCDHGC4 0 genome.wustl.edu 37 5 140865158 140865158 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 140865158 140865158 T G SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.418 p.L140V 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 118 0 0 96 20 17.2414 NR3C1 0 genome.wustl.edu 37 5 142661596 142661596 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 142661596 142661596 T G SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known missense c.2195 p.N732T 0.999 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Glcrtcd_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_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 133 0 0 110 7 5.98291 CSNK1A1 0 genome.wustl.edu 37 5 148904690 148904690 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 148904690 148904690 A C SNP CSNK1A1 ENST00000515768 human ensembl 74_37 -1 known missense c.275 p.L92R 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 CSNK1A1 HGNC ENSG00000113712 63 0 0 46 3 6.12245 PRDM9 0 genome.wustl.edu 37 5 23526783 23526783 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 23526783 23526783 G A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.1586 p.C529Y 0.353 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 151 0 0 149 15 9.14634 PDZD2 0 genome.wustl.edu 37 5 32077580 32077580 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 32077580 32077580 A C SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.3550 p.K1184Q 0.417 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 115 0 0 140 9 6.04027 ADAMTS12 0 genome.wustl.edu 37 5 33616123 33616123 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 33616123 33616123 T C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2198 p.E733G 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 163 0 0 150 82 35.3448 ADAMTS12 0 genome.wustl.edu 37 5 33891900 33891900 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 33891900 33891900 A C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.62 p.F21C 0.015 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 188 0 0 207 42 16.8675 SPEF2 0 genome.wustl.edu 37 5 35654723 35654723 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 35654723 35654723 A G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.873 p.K291 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 111 0 0 167 14 7.73481 UGT3A1 0 genome.wustl.edu 37 5 35965721 35965721 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 35965721 35965721 A T SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.610 p.F204I 0.011 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 146 0 0 150 10 6.25 IRX1 0 genome.wustl.edu 37 5 3599747 3599747 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 3599747 3599747 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.685 p.D229N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 58 0 0 69 6 8 UGT3A2 0 genome.wustl.edu 37 5 36066860 36066860 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 36066860 36066860 C T SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.32 p.G11D 0.000 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 190 0 0 178 25 12.3153 SREK1 0 genome.wustl.edu 37 5 65458386 65458386 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 65458386 65458386 T G SNP SREK1 ENST00000334121 human ensembl 74_37 +1 known missense c.721 p.F241V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 206 0 0 146 8 5.19481 ENC1 0 genome.wustl.edu 37 5 73931059 73931059 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 73931059 73931059 C T SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known missense c.1252 p.D418N 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 137 1 0.724638 108 20 15.625 JMY 0 genome.wustl.edu 37 5 78610475 78610475 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 78610475 78610475 C T SNP JMY ENST00000396137 human ensembl 74_37 +1 known silent c.2460 p.P820 0.099 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 30 0 0 16 4 20 JMY 0 genome.wustl.edu 37 5 78610479 78610479 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 5 78610479 78610479 C A SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.2464 p.P822T 0.820 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 32 0 0 17 4 19.0476 ASCC3 0 genome.wustl.edu 37 6 101214491 101214491 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 101214491 101214491 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.1687 p.E563K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 140 0 0 104 13 11.1111 GRIK2 0 genome.wustl.edu 37 6 102124587 102124587 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 102124587 102124587 G T SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.631 p.A211S 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 112 0 0 96 15 13.5135 ZBTB24 0 genome.wustl.edu 37 6 109798005 109798005 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 109798005 109798005 T C SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.1081 p.T361A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 39 0 0 38 7 15.5556 AK9 0 genome.wustl.edu 37 6 109954220 109954220 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 109954220 109954220 A C SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.1160 p.M387R 1.000 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 158 0 0 103 21 16.9355 SLC16A10 0 genome.wustl.edu 37 6 111543321 111543321 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 111543321 111543321 A C SNP SLC16A10 ENST00000368851 human ensembl 74_37 +1 known missense c.1431 p.Q477H 0.047 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 225 0 0 207 12 5.47945 DCBLD1 0 genome.wustl.edu 37 6 117842710 117842710 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 117842710 117842710 A C SNP DCBLD1 ENST00000338728 human ensembl 74_37 +1 known silent c.483 p.R161 0.998 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 138 0 0 84 10 10.6383 L3MBTL3 0 genome.wustl.edu 37 6 130407341 130407341 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 130407341 130407341 C T SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known silent c.1464 p.N488 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 402 0 0 358 23 6.03675 EPB41L2 0 genome.wustl.edu 37 6 131191232 131191232 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 131191232 131191232 T A SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.2078 p.K693M 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 182 0 0 130 18 12.1622 UTRN 0 genome.wustl.edu 37 6 145069618 145069618 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 145069618 145069618 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.8176 p.D2726N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 111 0 0 77 13 14.4444 PSMB1 0 genome.wustl.edu 37 6 170858250 170858250 + RNA SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 170858250 170858250 C T SNP PSMB1 ENST00000462957 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PSMB1 HGNC ENSG00000008018 32 0 0 15 5 25 SLC17A1 0 genome.wustl.edu 37 6 25799054 25799054 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 25799054 25799054 T G SNP SLC17A1 ENST00000244527 human ensembl 74_37 -1 known missense c.1363 p.I455L 0.983 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 217 0 0 168 18 9.67742 HIST1H2AC 0 genome.wustl.edu 37 6 26124540 26124540 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 26124540 26124540 C T SNP HIST1H2AC ENST00000314088 human ensembl 74_37 +1 known missense c.80 p.P27L 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AC HGNC ENSG00000180573 68 0 0 53 3 5.35714 BTN3A1 0 genome.wustl.edu 37 6 26410259 26410259 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 26410259 26410259 T C SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known silent c.963 p.S321 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 358 0 0 270 36 11.7647 ITPR3 0 genome.wustl.edu 37 6 33632880 33632880 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 33632880 33632880 A G SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.1299 p.S433 0.138 superfamily_MIR_motif,prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 131 0 0 108 21 16.2791 CMTR1 0 genome.wustl.edu 37 6 37430704 37430704 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 37430704 37430704 C T SNP CMTR1 ENST00000373451 human ensembl 74_37 +1 known silent c.1425 p.S475 0.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_dom,pfscan_G_patch_dom - no_errors CMTR1 HGNC ENSG00000137200 243 0 0 199 22 9.95475 TCTE1 0 genome.wustl.edu 37 6 44254189 44254189 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 44254189 44254189 C T SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.358 p.V120M 0.715 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 254 0 0 220 29 11.6466 DST 0 genome.wustl.edu 37 6 56434681 56434681 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 56434681 56434681 A C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.13758 p.D4586E 0.990 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 220 0 0 192 24 11.1111 GABRR1 0 genome.wustl.edu 37 6 89907959 89907959 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 6 89907959 89907959 A C SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.352 p.F118V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 278 0 0 209 25 10.6838 MUC17 0 genome.wustl.edu 37 7 100679619 100679619 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 100679619 100679619 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.4922 p.T1641M 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 566 1 0.176367 616 73 10.5951 LAMB4 0 genome.wustl.edu 37 7 107748104 107748104 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 107748104 107748104 G A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.563 p.S188L 0.981 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 95 0 0 101 25 19.8413 PAX4 0 genome.wustl.edu 37 7 127253104 127253104 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 127253104 127253104 C T SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known silent c.663 p.E221 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 85 0 0 70 30 30 PLXNA4 0 genome.wustl.edu 37 7 131815261 131815261 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 131815261 131815261 T G SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.5662 p.T1888P 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 198 1 0.502513 185 52 21.9409 ATP6V0A4 0 genome.wustl.edu 37 7 138455901 138455901 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 138455901 138455901 T C SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.92 p.E31G 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 476 1 0.209644 531 45 7.8125 LUC7L2 0 genome.wustl.edu 37 7 139092001 139092001 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 139092001 139092001 G A SNP LUC7L2 ENST00000541515 human ensembl 74_37 +1 known missense c.790 p.G264R 1.000 pfam_Luc7-rel pfam_Luc7-rel - no_errors LUC7L2 HGNC ENSG00000269955 173 0 0 202 16 7.33945 BRAF 0 genome.wustl.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 140453134 140453134 T C SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.1801 p.K601E 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 165 0 0 151 19 11.1765 ZNF425 0 genome.wustl.edu 37 7 148801048 148801048 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 148801048 148801048 A T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.1915 p.S639T 0.157 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 262 0 0 350 28 7.40741 DNAH11 0 genome.wustl.edu 37 7 21779255 21779255 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 21779255 21779255 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.7899 p.P2633 0.030 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DNAH11 HGNC ENSG00000105877 129 0 0 148 10 6.32911 ADCYAP1R1 0 genome.wustl.edu 37 7 31146113 31146113 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 31146113 31146113 C A SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known missense c.1222 p.Q408K 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 50 0 0 60 6 9.09091 AMPH 0 genome.wustl.edu 37 7 38530710 38530710 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 38530710 38530710 T G SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.336 p.K112N 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 386 0 0 404 45 10.0223 GLI3 0 genome.wustl.edu 37 7 42005486 42005486 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 42005486 42005486 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3185 p.S1062L 0.014 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 72 0 0 86 9 9.47368 HECW1 0 genome.wustl.edu 37 7 43581478 43581478 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 43581478 43581478 T G SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.4129 p.L1377V 0.902 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 135 0 0 158 11 6.50888 URGCP 0 genome.wustl.edu 37 7 43918314 43918314 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 43918314 43918314 A G SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.748 p.F250L 0.000 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 38 0 0 52 7 11.8644 ADCY1 0 genome.wustl.edu 37 7 45688316 45688316 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 45688316 45688316 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.1068 p.C356 0.691 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 58 0 0 95 6 5.94059 ABCA13 0 genome.wustl.edu 37 7 48311482 48311482 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 48311482 48311482 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2219 p.F740C 0.023 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 42 0 0 44 6 12 ABCA13 0 genome.wustl.edu 37 7 48319313 48319313 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 48319313 48319313 C A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.8522 p.T2841K 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 229 0 0 234 26 10 POM121L12 0 genome.wustl.edu 37 7 53104142 53104142 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 53104142 53104142 G A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.778 p.A260T 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 99 0 0 101 10 9.00901 CHCHD2 0 genome.wustl.edu 37 7 56170610 56170610 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 56170610 56170610 T G SNP CHCHD2 ENST00000395422 human ensembl 74_37 -1 known missense c.395 p.K132T 1.000 pfam_CHCH pfam_CHCH - no_errors CHCHD2 HGNC ENSG00000106153 125 0 0 126 16 11.2676 NCF1 0 genome.wustl.edu 37 7 74193722 74193722 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 74193722 74193722 T G SNP NCF1 ENST00000289473 human ensembl 74_37 +1 known missense c.349 p.F117V 0.984 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox,prints_P47PHOX pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX - no_errors NCF1 HGNC ENSG00000158517 62 0 0 72 5 6.49351 GLCCI1 0 genome.wustl.edu 37 7 8125957 8125957 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 8125957 8125957 A G SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known missense c.1433 p.K478R 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 689 0 0 778 43 5.23752 AKAP9 0 genome.wustl.edu 37 7 91667822 91667822 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 91667822 91667822 A C SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.4464 p.Q1488H 0.001 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 127 0 0 139 16 10.3226 ARPC1B 0 genome.wustl.edu 37 7 98985726 98985726 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 98985726 98985726 G A SNP ARPC1B ENST00000252725 human ensembl 74_37 +1 known silent c.234 p.V78 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1B HGNC ENSG00000130429 124 0 0 142 13 8.3871 ZNF655 0 genome.wustl.edu 37 7 99161661 99161661 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 99161661 99161661 A C SNP ZNF655 ENST00000320583 human ensembl 74_37 +1 known missense c.525 p.E175D 1.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF655 HGNC ENSG00000197343 138 0 0 141 20 12.4224 MCM7 0 genome.wustl.edu 37 7 99693469 99693469 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 7 99693469 99693469 G A SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known missense c.1523 p.P508L 1.000 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 207 0 0 235 28 10.6464 RIMS2 0 genome.wustl.edu 37 8 105026758 105026758 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 8 105026758 105026758 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.3249 p.V1083 0.999 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 82 0 0 70 4 5.40541 DCSTAMP 0 genome.wustl.edu 37 8 105361784 105361784 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 8 105361784 105361784 A G SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.1004 p.E335G 0.942 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 375 0 0 294 39 11.7117 KLHL38 0 genome.wustl.edu 37 8 124664441 124664441 + Silent SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 8 124664441 124664441 C A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.726 p.L242 0.614 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 KLHL38 HGNC ENSG00000175946 105 0 0 116 9 7.2 FAM91A1 0 genome.wustl.edu 37 8 124801950 124801950 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 8 124801950 124801950 T G SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.1376 p.V459G 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 160 0 0 114 25 17.9856 BAI1 0 genome.wustl.edu 37 8 143623495 143623495 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 8 143623495 143623495 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known silent c.3900 p.P1300 0.015 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 50 0 0 50 7 12.2807 MYOM2 0 genome.wustl.edu 37 8 2063895 2063895 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 8 2063895 2063895 T A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.3324 p.D1108E 0.982 NULL 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 MYOM2 HGNC ENSG00000036448 160 0 0 120 22 15.493 KCNB2 0 genome.wustl.edu 37 8 73848915 73848915 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 8 73848915 73848915 G A SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1325 p.R442Q 1.000 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 182 0 0 147 26 15.0289 SGK223 0 genome.wustl.edu 37 8 8175695 8175695 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 8 8175695 8175695 T G SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.4190 p.K1397T 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,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 25 0 0 26 6 18.75 TEX10 0 genome.wustl.edu 37 9 103111616 103111616 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 103111616 103111616 A C SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known missense c.30 p.D10E 1.000 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 63 0 0 76 5 6.17284 MSANTD3 0 genome.wustl.edu 37 9 103204421 103204421 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 103204421 103204421 C T SNP MSANTD3 ENST00000395067 human ensembl 74_37 +1 known silent c.201 p.F67 1.000 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 57 0 0 80 9 10.1124 SLC44A1 0 genome.wustl.edu 37 9 108136917 108136917 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 108136917 108136917 C A SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known missense c.1533 p.F511L 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 381 0 0 275 74 21.2034 LPAR1 0 genome.wustl.edu 37 9 113704450 113704450 + Splice_Site SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 113704450 113704450 T C SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known splice_site c.49-2 e2-2 0.990 - - - no_errors LPAR1 HGNC ENSG00000198121 103 0 0 113 6 5.04202 SNX30 0 genome.wustl.edu 37 9 115579987 115579987 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 115579987 115579987 T C SNP SNX30 ENST00000374232 human ensembl 74_37 +1 known silent c.351 p.S117 0.983 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX30 HGNC ENSG00000148158 84 0 0 113 7 5.83333 BRINP1 0 genome.wustl.edu 37 9 121929915 121929915 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 121929915 121929915 G A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1733 p.P578L 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 116 0 0 132 13 8.96552 NDUFA8 0 genome.wustl.edu 37 9 124914536 124914536 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 124914536 124914536 A G SNP NDUFA8 ENST00000373768 human ensembl 74_37 -1 known missense c.203 p.L68S 1.000 pirsf_NADH_Ub_cplx-1_asu_su-8 pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC ENSG00000119421 103 0 0 99 8 7.47664 PTGES2 0 genome.wustl.edu 37 9 130884681 130884681 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 130884681 130884681 C T SNP PTGES2 ENST00000338961 human ensembl 74_37 -1 known missense c.965 p.R322Q 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors PTGES2 HGNC ENSG00000148334 111 0 0 135 18 11.7647 SPTAN1 0 genome.wustl.edu 37 9 131346634 131346634 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 131346634 131346634 A C SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.2267 p.K756T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 83 0 0 99 7 6.60377 CCBL1 0 genome.wustl.edu 37 9 131600576 131600576 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 131600576 131600576 A G SNP CCBL1 ENST00000436267 human ensembl 74_37 -1 known missense c.554 p.L185P 0.001 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL1 HGNC ENSG00000171097 54 0 0 85 6 6.59341 MAMDC4 0 genome.wustl.edu 37 9 139748065 139748065 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 139748065 139748065 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known silent c.397 p.L133 0.016 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 48 0 0 52 11 17.4603 NFIB 0 genome.wustl.edu 37 9 14307364 14307364 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 14307364 14307364 G A SNP NFIB ENST00000397581 human ensembl 74_37 -1 known silent c.186 p.L62 1.000 pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 170 1 0.584795 170 29 14.5729 RECK 0 genome.wustl.edu 37 9 36112368 36112368 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 36112368 36112368 G A SNP RECK ENST00000377966 human ensembl 74_37 +1 known missense c.1955 p.S652N 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 122 0 0 142 10 6.57895 ZNF658 0 genome.wustl.edu 37 9 40784134 40784134 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 40784134 40784134 C A SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.211 p.D71Y 0.025 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 ZNF658 HGNC ENSG00000196409 70 0 0 73 12 14.1176 ALDH1A1 0 genome.wustl.edu 37 9 75567908 75567908 + Silent SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 75567908 75567908 G T SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known silent c.9 p.S3 0.030 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 119 0 0 106 13 10.9244 PRUNE2 0 genome.wustl.edu 37 9 79325825 79325825 + Silent SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 79325825 79325825 A T SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known silent c.288 p.G96 0.955 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 49 0 0 55 4 6.77966 SPATA31D1 0 genome.wustl.edu 37 9 84607680 84607680 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 84607680 84607680 C T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.2295 p.S765 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 80 0 0 112 11 8.94309 PTPRD 0 genome.wustl.edu 37 9 8521506 8521506 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 9 8521506 8521506 A T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.732 p.N244K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 144 0 0 118 13 9.92366 MSL3 0 genome.wustl.edu 37 X 11779011 11779011 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 11779011 11779011 T A SNP MSL3 ENST00000312196 human ensembl 74_37 +1 known missense c.337 p.L113I 1.000 superfamily_Chromodomain-like pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 28 0 0 12 3 20 KIAA1210 0 genome.wustl.edu 37 X 118221482 118221482 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 118221482 118221482 T C SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.3711 p.Q1237 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 37 0 0 29 7 19.4444 THOC2 0 genome.wustl.edu 37 X 122830587 122830587 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 122830587 122830587 T G SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.451 p.I151L 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 113 0 0 100 12 10.7143 USP26 0 genome.wustl.edu 37 X 132162027 132162027 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 132162027 132162027 A C SNP USP26 ENST00000370832 human ensembl 74_37 -1 known silent c.222 p.T74 0.001 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 126 0 0 84 23 21.4953 ARHGEF6 0 genome.wustl.edu 37 X 135862980 135862980 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 135862980 135862980 T G SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.62 p.K21T 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 136 0 0 159 17 9.65909 KLHL15 0 genome.wustl.edu 37 X 24006435 24006435 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 24006435 24006435 T G SNP KLHL15 ENST00000328046 human ensembl 74_37 -1 known missense c.1418 p.K473T 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 149 0 0 147 44 23.0366 ZFX 0 genome.wustl.edu 37 X 24226360 24226360 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 24226360 24226360 T G SNP ZFX ENST00000540034 human ensembl 74_37 +1 known silent c.1083 p.V361 0.966 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 76 0 0 82 5 5.74713 IL1RAPL1 0 genome.wustl.edu 37 X 29301159 29301159 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 29301159 29301159 A C SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.187 p.N63H 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 89 0 0 82 22 21.1538 KDM6A 0 genome.wustl.edu 37 X 44928861 44928861 + Missense_Mutation SNP C C G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 44928861 44928861 C G SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known missense c.1982 p.P661R 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 35 0 0 22 9 29.0323 ITIH6 0 genome.wustl.edu 37 X 54785174 54785174 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 54785174 54785174 T C SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.1333 p.N445D 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 36 0 0 21 3 12.5 TRO 0 genome.wustl.edu 37 X 54955296 54955296 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 54955296 54955296 A C SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.2139 p.E713D 0.995 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 13 0 0 16 6 27.2727 ZC4H2 0 genome.wustl.edu 37 X 64140008 64140008 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 64140008 64140008 C T SNP ZC4H2 ENST00000374839 human ensembl 74_37 -1 known silent c.351 p.L117 0.967 pfam_Znf-C4H2 pfam_Znf-C4H2 - no_errors ZC4H2 HGNC ENSG00000126970 74 0 0 58 15 20.5479 FTX 0 genome.wustl.edu 37 X 73251446 73251446 + RNA SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 73251446 73251446 C T SNP FTX ENST00000602812 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FTX HGNC ENSG00000230590 24 0 0 22 4 15.3846 RLIM 0 genome.wustl.edu 37 X 73812787 73812787 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 73812787 73812787 A G SNP RLIM ENST00000332687 human ensembl 74_37 -1 known silent c.363 p.S121 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 241 0 0 197 17 7.94393 KLHL4 0 genome.wustl.edu 37 X 86773290 86773290 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 86773290 86773290 G A SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.394 p.D132N 0.585 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 102 0 0 76 13 14.6067 PCDH19 0 genome.wustl.edu 37 X 99551258 99551258 + RNA SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 99551258 99551258 T G SNP PCDH19 ENST00000464981 human ensembl 74_37 -1 known rna NULL NULL 0.339 - - - no_errors PCDH19 HGNC ENSG00000165194 130 0 0 102 35 25.5474 LOC645752 0 genome.wustl.edu 37 15 78217330 78217331 + RNA INS - - T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 15 78217330 78217331 - T INS LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.005 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 180 0 0 99 11 10 ITGAL 0 genome.wustl.edu 37 16 30532838 30532840 + In_Frame_Del DEL AGG AGG - TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 16 30532838 30532840 AGG - DEL ITGAL ENST00000356798 human ensembl 74_37 +1 known in_frame_del c.3365_3367 p.E1123in_frame_del 1.000:1.000:1.000 pfam_Integrin_alpha_C_CS pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 108 0 0 132 11 7.69231 EVPL 0 genome.wustl.edu 37 17 74005091 74005093 + In_Frame_Del DEL CCT CCT - TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 17 74005091 74005093 CCT - DEL EVPL ENST00000301607 human ensembl 74_37 -1 known in_frame_del c.4195_4193 p.E1398in_frame_del 1.000:1.000:1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 117 0 0 107 11 9.32203 TTN 0 genome.wustl.edu 37 2 179545862 179545863 + Frame_Shift_Ins INS - - T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 179545862 179545863 - T INS TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_ins c.29552_29551 p.I9851fs 1.000:1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 87 0 0 96 9 8.57143 DNAH6 0 genome.wustl.edu 37 2 84800663 84800663 + Frame_Shift_Del DEL A A - TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf 2 84800663 84800663 A - DEL DNAH6 ENST00000237449 human ensembl 74_37 +1 known frame_shift_del c.1876 p.K626fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 293 0 0 309 31 9.11765 FGD1 0 genome.wustl.edu 37 X 54472631 54472632 + Frame_Shift_Ins INS - - G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf X 54472631 54472632 - G INS FGD1 ENST00000375135 human ensembl 74_37 -1 known frame_shift_ins c.2797_2796 p.E932fs 0.999:0.940 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 13 0 0 24 5 17.2414