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 ABCA1 0 genome.wustl.edu 37 9 107646736 107646736 + Nonsense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 107646736 107646736 C A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known nonsense c.274 p.G92* 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 59 0 0.00 67 4 5.63 ABCA13 0 genome.wustl.edu 37 7 48634375 48634375 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 48634375 48634375 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.14710 p.R4904W 0.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 73 0 0.00 46 22 32.35 ABCC5 0 genome.wustl.edu 37 3 183665162 183665162 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 183665162 183665162 C T SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.3364 p.G1122R 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 tier1 - - 28 0 0.00 21 12 36.36 ABCC8 0 genome.wustl.edu 37 11 17430052 17430052 + Nonsense_Mutation SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 17430052 17430052 T A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known nonsense c.2710 p.K904* 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 40 0 0.00 38 4 9.52 ACACA 0 genome.wustl.edu 37 17 35564696 35564696 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 35564696 35564696 G T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.3726 p.N1242K 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 tier1 - - 56 0 0.00 36 9 20.00 ADAMTSL3 0 genome.wustl.edu 37 15 84611717 84611717 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 15 84611717 84611717 G A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.2373 p.T791 0.023 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 29 0 0.00 18 4 18.18 ADCY10 0 genome.wustl.edu 37 1 167873231 167873231 + Splice_Site SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 167873231 167873231 T C SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known splice_site c.149-2 e2-2 1.000 - - - no_errors ADCY10 HGNC ENSG00000143199 tier1 rs142062218 - 88 0 0.00 70 6 7.89 AKAP9 0 genome.wustl.edu 37 7 91712605 91712605 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 91712605 91712605 G A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.8318 p.S2773N 0.014 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 37 0 0.00 41 4 8.89 ALDH3A1 0 genome.wustl.edu 37 17 19646651 19646651 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 19646651 19646651 G T SNP ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known missense c.288 p.D96E 0.048 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 50 0 0.00 38 2 5.00 ALG12 0 genome.wustl.edu 37 22 50301593 50301593 + Splice_Site SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 50301593 50301593 C T SNP ALG12 ENST00000330817 human ensembl 74_37 -1 known splice_site c.769-1 e6-1 1.000 - - - no_errors ALG12 HGNC ENSG00000182858 tier1 - - 37 0 0.00 23 9 28.12 ANKRD45 0 genome.wustl.edu 37 1 173596207 173596207 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 173596207 173596207 G T SNP ANKRD45 ENST00000333279 human ensembl 74_37 -1 known missense c.588 p.D196E 0.997 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD45 HGNC ENSG00000183831 tier1 - - 40 0 0.00 52 4 7.14 ARHGAP31 0 genome.wustl.edu 37 3 119101232 119101232 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 119101232 119101232 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.525 p.A175 0.006 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 45 0 0.00 54 14 20.59 ARHGDIG 0 genome.wustl.edu 37 16 332775 332775 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 332775 332775 G T SNP ARHGDIG ENST00000219409 human ensembl 74_37 +1 known missense c.639 p.W213C 1.000 pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIG HGNC ENSG00000242173 tier1 - - 63 0 0.00 35 4 10.26 ARHGEF11 0 genome.wustl.edu 37 1 156904759 156904759 + RNA SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 156904759 156904759 T A SNP ARHGEF11 ENST00000487682 human ensembl 74_37 -1 known rna NULL NULL 0.722 - - - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 rs111749122 - 50 0 0.00 78 5 6.02 ARSF 0 genome.wustl.edu 37 X 2990074 2990074 + Silent SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f X 2990074 2990074 T C SNP ARSF ENST00000359361 human ensembl 74_37 +1 known silent c.19 p.L7 0.000 NULL pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 tier1 - - 23 0 0.00 24 4 14.29 ARVCF 0 genome.wustl.edu 37 22 19969146 19969146 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 19969146 19969146 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.484 p.A162T 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 - - 46 0 0.00 26 20 43.48 ASNA1 0 genome.wustl.edu 37 19 12858341 12858341 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 12858341 12858341 G A SNP ASNA1 ENST00000357332 human ensembl 74_37 +1 known missense c.850 p.D284N 0.999 pfam_Anion-transp_ATPase-like_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 - no_errors ASNA1 HGNC ENSG00000198356 tier1 rs149156095 - 17 0 0.00 15 4 21.05 ATAD2 0 genome.wustl.edu 37 8 124346560 124346560 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 8 124346560 124346560 G T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.3214 p.R1072S 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 98 0 0.00 70 4 5.41 ATP1A2 0 genome.wustl.edu 37 1 160105632 160105632 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 160105632 160105632 G A SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.2288 p.R763H 1.000 tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 tier1 - - 48 0 0.00 63 10 13.70 ATP2B1 0 genome.wustl.edu 37 12 89992491 89992491 + Silent SNP T T G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 89992491 89992491 T G SNP ATP2B1 ENST00000359142 human ensembl 74_37 -1 known silent c.3381 p.G1127 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATP_Ca_trans_C,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 21 0 0.00 28 4 12.50 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99022949 99022949 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 99022949 99022949 C T SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known silent c.1353 p.P451 0.004 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 tier1 - - 56 0 0.00 49 24 32.88 ATXN7L2 0 genome.wustl.edu 37 1 110032706 110032706 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 110032706 110032706 C T SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.1192 p.P398S 0.001 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 tier1 - - 74 0 0.00 68 13 16.05 BACE2 0 genome.wustl.edu 37 21 42647541 42647541 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 21 42647541 42647541 G A SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known missense c.1547 p.R516H 1.000 NULL 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 tier1 - - 9 0 0.00 5 4 44.44 BDNF 0 genome.wustl.edu 37 11 27680474 27680474 + Splice_Site SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 27680474 27680474 C T SNP BDNF ENST00000418212 human ensembl 74_37 -1 known splice_site c.1-1 e1-1 0.999 - - - no_errors BDNF HGNC ENSG00000176697 tier1 - - 63 0 0.00 53 4 7.02 BRDT 0 genome.wustl.edu 37 1 92428479 92428479 + Silent SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 92428479 92428479 G T SNP BRDT ENST00000362005 human ensembl 74_37 +1 known silent c.168 p.V56 0.962 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 52 0 0.00 53 3 5.26 BUB1 0 genome.wustl.edu 37 2 111419341 111419341 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 111419341 111419341 C T SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known silent c.1035 p.Q345 0.012 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 tier1 - - 35 0 0.00 29 4 12.12 BYSL 0 genome.wustl.edu 37 6 41897994 41897994 + Missense_Mutation SNP A A T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 41897994 41897994 A T SNP BYSL ENST00000230340 human ensembl 74_37 +1 known missense c.556 p.R186W 1.000 pfam_Bystin pfam_Bystin - no_errors BYSL HGNC ENSG00000112578 39 0 0.00 45 4 8.16 C11orf95 0 genome.wustl.edu 37 11 63533490 63533490 + RNA SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 63533490 63533490 C T SNP C11orf95 ENST00000433688 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors C11orf95 HGNC ENSG00000188070 tier1 - - 68 0 0.00 34 11 24.44 C12orf52 0 genome.wustl.edu 37 12 113624799 113624799 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 113624799 113624799 C T SNP C12orf52 ENST00000548278 human ensembl 74_37 +1 known missense c.248 p.T83I 0.001 NULL NULL - no_errors C12orf52 HGNC ENSG00000139405 tier1 - - 41 0 0.00 18 6 25.00 C12orf55 0 genome.wustl.edu 37 12 97178570 97178570 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 97178570 97178570 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.8357 p.G2786D 0.001 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 53 0 0.00 48 18 27.27 C17orf102 0 genome.wustl.edu 37 17 32906277 32906277 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 32906277 32906277 G A SNP C17orf102 ENST00000357754 human ensembl 74_37 -1 known missense c.23 p.T8M 0.000 NULL NULL - no_errors C17orf102 HGNC ENSG00000197322 tier1 - - 50 0 0.00 30 10 25.00 CACNA1H 0 genome.wustl.edu 37 16 1248689 1248689 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 1248689 1248689 G T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.718 p.V240F 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 36 0 0.00 34 2 5.56 CCDC105 0 genome.wustl.edu 37 19 15132449 15132449 + Nonsense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 15132449 15132449 G T SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known nonsense c.1063 p.G355* 0.243 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 79 0 0.00 56 3 5.08 CCL20 0 genome.wustl.edu 37 2 228680154 228680154 + RNA DEL T T - TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 228680154 228680154 T - DEL CCL20 ENST00000473642 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CCL20 HGNC ENSG00000115009 tier1 32 0 0.00 28 5 15.15 CD163L1 0 genome.wustl.edu 37 12 7556131 7556131 + Missense_Mutation SNP C C G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 7556131 7556131 C G SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.1408 p.D470H 0.998 superfamily_Srcr_rcpt-rel pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 28 0 0.00 30 2 6.25 CD177 0 genome.wustl.edu 37 19 43859867 43859867 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 43859867 43859867 G A SNP CD177 ENST00000378009 human ensembl 74_37 +1 known missense c.434 p.G145E 0.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors CD177 HGNC ENSG00000204936 tier1 - - 81 0 0.00 60 21 25.93 CDH12 0 genome.wustl.edu 37 5 21755909 21755909 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 21755909 21755909 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1676 p.R559H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 61 0 0.00 48 28 36.36 CELSR1 0 genome.wustl.edu 37 22 46786324 46786324 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 46786324 46786324 A G SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.6310 p.C2104R 1.000 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 75 0 0.00 41 4 8.70 CENPE 0 genome.wustl.edu 37 4 104066470 104066470 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 104066470 104066470 C T SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.4594 p.E1532K 0.001 superfamily_Signal_recog_particl_SRP54_hlx pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 49 0 0.00 28 14 33.33 CHD3 0 genome.wustl.edu 37 17 7798335 7798335 + Missense_Mutation SNP A A T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 7798335 7798335 A T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.1370 p.E457V 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 - - 30 0 0.00 17 11 39.29 CHML 0 genome.wustl.edu 37 1 241798773 241798773 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 241798773 241798773 G T SNP CHML ENST00000366553 human ensembl 74_37 -1 known missense c.296 p.T99K 0.008 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 24 0 0.00 19 2 9.52 CHODL 0 genome.wustl.edu 37 21 19628832 19628832 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 21 19628832 19628832 A G SNP CHODL ENST00000299295 human ensembl 74_37 +1 known missense c.86 p.K29R 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CHODL HGNC ENSG00000154645 tier1 - - 17 0 0.00 14 5 26.32 CLEC14A 0 genome.wustl.edu 37 14 38724628 38724628 + Missense_Mutation SNP G G C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 38724628 38724628 G C SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known missense c.600 p.S200R 0.965 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 41 0 0.00 31 3 8.82 CNTN2 0 genome.wustl.edu 37 1 205039134 205039134 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 205039134 205039134 C T SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known silent c.2376 p.N792 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 tier1 - - 57 0 0.00 33 24 42.11 COL11A1 0 genome.wustl.edu 37 1 103380337 103380337 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 103380337 103380337 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.3883 p.E1295K 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 54 0 0.00 26 13 33.33 COMMD9 0 genome.wustl.edu 37 11 36300161 36300161 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 36300161 36300161 G A SNP COMMD9 ENST00000263401 human ensembl 74_37 -1 known silent c.183 p.L61 0.997 pfam_HCaRG pfam_HCaRG - no_errors COMMD9 HGNC ENSG00000110442 22 0 0.00 21 6 22.22 COX7A2L 0 genome.wustl.edu 37 2 42578455 42578455 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 42578455 42578455 G T SNP COX7A2L ENST00000234301 human ensembl 74_37 -1 known missense c.249 p.D83E 1.000 pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt - no_errors COX7A2L HGNC ENSG00000115944 69 0 0.00 69 4 5.48 CPSF2 0 genome.wustl.edu 37 14 92609414 92609414 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 92609414 92609414 C T SNP CPSF2 ENST00000298875 human ensembl 74_37 +1 known missense c.916 p.R306C 1.000 pfam_Beta_Casp pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 tier1 - - 112 0 0.00 69 11 13.75 CYFIP2 0 genome.wustl.edu 37 5 156746882 156746882 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 156746882 156746882 C T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.1469 p.T490M 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 28 0 0.00 37 4 9.76 CYP2C8 0 genome.wustl.edu 37 10 96802803 96802803 + Frame_Shift_Del DEL A A - TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 96802803 96802803 A - DEL CYP2C8 ENST00000371270 human ensembl 74_37 -1 known frame_shift_del c.993 p.I331fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C8 HGNC ENSG00000138115 tier1 53 0 0.00 58 7 10.77 CYP3A7 0 genome.wustl.edu 37 7 99308416 99308416 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 99308416 99308416 G T SNP CYP3A7 ENST00000336374 human ensembl 74_37 -1 known missense c.965 p.A322D 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 tier1 - - 59 0 0.00 93 6 6.06 CYP4V2 0 genome.wustl.edu 37 4 187131993 187131994 + RNA INS - - T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 187131993 187131994 - T INS CYP4V2 ENST00000502665 human ensembl 74_37 +1 known rna NULL NULL 0.075:0.089 - - - no_errors CYP4V2 HGNC ENSG00000145476 tier1 8 0 0.00 4 3 42.86 DACH2 0 genome.wustl.edu 37 X 86069837 86069837 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f X 86069837 86069837 G A SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.1684 p.D562N 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 26 0 0.00 18 19 51.35 DDX19A 0 genome.wustl.edu 37 16 70398975 70398975 + Missense_Mutation SNP A A T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 70398975 70398975 A T SNP DDX19A ENST00000302243 human ensembl 74_37 +1 known missense c.545 p.E182V 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 DDX19A HGNC ENSG00000168872 55 0 0.00 64 4 5.88 DISC1 0 genome.wustl.edu 37 1 232172460 232172460 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 232172460 232172460 G T SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known missense c.2448 p.Q816H 1.000 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 tier1 - - 43 0 0.00 42 20 32.26 DNMT1 0 genome.wustl.edu 37 19 10260136 10260136 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 10260136 10260136 G A SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.2579 p.A860V 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 tier1 - - 66 0 0.00 43 4 8.51 DSPP 0 genome.wustl.edu 37 4 88536371 88536371 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 88536371 88536371 A G SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.2557 p.S853G 0.663 NULL NULL - no_errors DSPP HGNC ENSG00000152591 94 0 0.00 73 4 5.19 DTX2 0 genome.wustl.edu 37 7 76109743 76109743 + RNA SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 76109743 76109743 C T SNP DTX2 ENST00000492339 human ensembl 74_37 +1 known rna NULL NULL 0.278 - - - no_errors DTX2 HGNC ENSG00000091073 tier1 - - 25 0 0.00 17 5 22.73 DUS2 0 genome.wustl.edu 37 16 68112718 68112718 + Silent SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 68112718 68112718 T C SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known silent c.1311 p.P437 0.990 NULL pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 65 0 0.00 72 4 5.26 EEPD1 0 genome.wustl.edu 37 7 36194611 36194611 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 36194611 36194611 G A SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known silent c.678 p.L226 1.000 NULL pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 tier1 - - 50 0 0.00 52 4 7.14 EEPD1 0 genome.wustl.edu 37 7 36338707 36338707 + Silent SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 36338707 36338707 G T SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known silent c.1602 p.V534 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 tier1 - - 56 0 0.00 62 4 6.06 EHD1 0 genome.wustl.edu 37 11 64627630 64627630 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 64627630 64627630 C T SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known silent c.681 p.Q227 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 tier1 - - 58 0 0.00 49 4 7.55 EIF2S3 0 genome.wustl.edu 37 X 24091268 24091268 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f X 24091268 24091268 G T SNP EIF2S3 ENST00000253039 human ensembl 74_37 +1 known missense c.1243 p.G415W 1.000 pfam_TIF2_gsu_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3 HGNC ENSG00000130741 tier1 - - 48 0 0.00 61 4 6.15 EIF4G1 0 genome.wustl.edu 37 3 184045115 184045115 + Silent SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 184045115 184045115 T C SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known silent c.3561 p.P1187 0.158 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 57 0 0.00 40 4 9.09 ELAVL2 0 genome.wustl.edu 37 9 23692817 23692817 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 23692817 23692817 C T SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.818 p.G273E 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 tier1 - - 11 0 0.00 9 6 40.00 ELOVL6 0 genome.wustl.edu 37 4 110980902 110980902 + Missense_Mutation SNP C C G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 110980902 110980902 C G SNP ELOVL6 ENST00000394607 human ensembl 74_37 -1 known missense c.230 p.G77A 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL6 HGNC ENSG00000170522 29 0 0.00 35 2 5.41 EML5 0 genome.wustl.edu 37 14 89178750 89178750 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 89178750 89178750 C T SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.1522 p.V508I 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 65 0 0.00 61 5 7.58 ENSG00000187812 0 genome.wustl.edu 37 15 76074431 76074431 + RNA SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 15 76074431 76074431 C T SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 121 0 0.00 72 6 7.69 ENSG00000221798 0 genome.wustl.edu 37 1 96352173 96352173 + RNA SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 96352173 96352173 G A SNP ENSG00000221798 ENST00000408871 human ensembl 74_37 +1 novel rna NULL NULL 0.006 - - - no_errors AC092812.1 Clone_based_ensembl_gene ENSG00000221798 tier1 - - 67 0 0.00 22 16 42.11 ENSG00000223059 0 genome.wustl.edu 37 13 88840118 88840118 + RNA SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 13 88840118 88840118 G T SNP ENSG00000223059 ENST00000411127 human ensembl 74_37 -1 novel rna NULL NULL 0.032 - - - no_errors AL354896.1 Clone_based_ensembl_gene ENSG00000223059 tier1 - - 33 0 0.00 19 7 26.92 ENSG00000229203 0 genome.wustl.edu 37 2 132587690 132587690 + RNA SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 132587690 132587690 G A SNP ENSG00000229203 ENST00000437330 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC103564.7 Clone_based_vega_gene ENSG00000229203 tier1 - - 145 0 0.00 60 28 31.46 ENSG00000237480 0 genome.wustl.edu 37 1 106623892 106623892 + RNA SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 106623892 106623892 G A SNP ENSG00000237480 ENST00000429608 human ensembl 74_37 +1 known rna NULL NULL 0.108 - - - no_errors RP5-947P14.1 Clone_based_vega_gene ENSG00000237480 tier1 - - 51 0 0.00 33 20 37.74 ENSG00000264542 0 genome.wustl.edu 37 11 106672094 106672094 + RNA SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 106672094 106672094 G T SNP ENSG00000264542 ENST00000578526 human ensembl 74_37 -1 novel rna NULL NULL 0.130 - - - no_errors AP001282.1 Clone_based_ensembl_gene ENSG00000264542 tier1 - - 42 0 0.00 30 7 18.92 ENSG00000272973 0 genome.wustl.edu 37 22 24199049 24199049 + RNA SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 24199049 24199049 C T SNP ENSG00000272973 ENST00000609825 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KB-1125A3.11 Clone_based_vega_gene ENSG00000272973 tier1 - - 18 0 0.00 9 7 43.75 ENTPD5 0 genome.wustl.edu 37 14 74436726 74436726 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 74436726 74436726 C T SNP ENTPD5 ENST00000334696 human ensembl 74_37 -1 known missense c.1187 p.S396N 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD5 HGNC ENSG00000187097 41 0 0.00 38 4 9.52 EPG5 0 genome.wustl.edu 37 18 43432583 43432583 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 18 43432583 43432583 C T SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.7589 p.S2530N 0.998 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 66 0 0.00 62 4 6.06 FAM120B 0 genome.wustl.edu 37 6 170704669 170704669 + Splice_Site SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 170704669 170704669 T C SNP FAM120B ENST00000537664 human ensembl 74_37 +1 known splice_site c.2761+2 e9+2 1.000 - - - no_errors FAM120B HGNC ENSG00000112584 tier1 - - 22 0 0.00 12 3 20.00 FAM160A1 0 genome.wustl.edu 37 4 152571290 152571290 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 152571290 152571290 G T SNP FAM160A1 ENST00000435205 human ensembl 74_37 +1 known missense c.2097 p.R699S 0.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 tier1 - - 56 0 0.00 54 4 6.90 FAM180A 0 genome.wustl.edu 37 7 135433402 135433402 + RNA SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 135433402 135433402 G A SNP FAM180A ENST00000435869 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM180A HGNC ENSG00000189320 tier1 - - 23 0 0.00 14 10 41.67 FAM208A 0 genome.wustl.edu 37 3 56707745 56707745 + Nonsense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 56707745 56707745 G A SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known nonsense c.340 p.Q114* 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 tier1 - - 50 0 0.00 30 24 44.44 FAT1 0 genome.wustl.edu 37 4 187542528 187542528 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 187542528 187542528 G T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.5212 p.Q1738K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 14 0 0.00 18 2 10.00 FGFR1 0 genome.wustl.edu 37 8 38285889 38285889 + Silent SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 8 38285889 38285889 T A SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known silent c.522 p.T174 0.994 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 78 0 0.00 47 3 6.00 FLJ46361 0 genome.wustl.edu 37 10 124538819 124538819 + RNA SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 124538819 124538819 G T SNP FLJ46361 ENST00000439464 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 tier1 - - 47 0 0.00 25 13 34.21 FLNC 0 genome.wustl.edu 37 7 128488921 128488921 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 128488921 128488921 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.4812 p.P1604 0.025 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 14 0 0.00 12 16 57.14 FOXG1 0 genome.wustl.edu 37 14 29237560 29237560 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 29237560 29237560 G A SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.1075 p.A359T 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 52 0 0.00 37 9 19.57 FOXJ1 0 genome.wustl.edu 37 17 74133870 74133870 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 74133870 74133870 G A SNP FOXJ1 ENST00000322957 human ensembl 74_37 -1 known missense c.830 p.P277L 0.966 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 tier1 - - 16 0 0.00 11 5 31.25 FREM1 0 genome.wustl.edu 37 9 14851595 14851595 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 14851595 14851595 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.842 p.A281V 0.357 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 27 0 0.00 33 2 5.56 FSHR 0 genome.wustl.edu 37 2 49190735 49190735 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 49190735 49190735 G T SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.1225 p.L409I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 32 0 0.00 28 2 6.67 FSIP2 0 genome.wustl.edu 37 2 186666039 186666039 + Nonsense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 186666039 186666039 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known nonsense c.12273 p.W4091* 0.070 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 51 0 0.00 49 4 7.55 FSTL4 0 genome.wustl.edu 37 5 132537685 132537685 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 132537685 132537685 G T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.1766 p.P589H 0.999 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 - - 64 0 0.00 40 19 32.20 GALNT3 0 genome.wustl.edu 37 2 166605343 166605343 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 166605343 166605343 G A SNP GALNT3 ENST00000392701 human ensembl 74_37 -1 known missense c.1850 p.S617L 0.963 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 tier1 - - 35 0 0.00 16 23 58.97 GDF2 0 genome.wustl.edu 37 10 48414221 48414221 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 48414221 48414221 C T SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.647 p.R216Q 0.941 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 tier1 - - 15 0 0.00 14 6 30.00 GK2 0 genome.wustl.edu 37 4 80329257 80329257 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 80329257 80329257 G A SNP GK2 ENST00000358842 human ensembl 74_37 -1 known missense c.98 p.A33V 0.998 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 tier1 rs140376639 - 50 0 0.00 38 15 28.30 GRAMD4 0 genome.wustl.edu 37 22 47057313 47057313 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 47057313 47057313 G T SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.440 p.G147V 0.409 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 tier1 - - 58 0 0.00 54 7 11.48 GRIN3A 0 genome.wustl.edu 37 9 104449448 104449448 + Nonsense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 104449448 104449448 G T SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known nonsense c.734 p.S245* 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 32 0 0.00 32 2 5.88 HABP4 0 genome.wustl.edu 37 9 99252465 99252465 + RNA SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 99252465 99252465 G A SNP HABP4 ENST00000466976 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors HABP4 HGNC ENSG00000130956 tier1 - - 77 0 0.00 77 5 6.10 HAS3 0 genome.wustl.edu 37 16 69149029 69149029 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 69149029 69149029 A G SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known missense c.1522 p.T508A 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 54 0 0.00 57 3 5.00 HAX1 0 genome.wustl.edu 37 1 154245866 154245866 + Silent SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 154245866 154245866 A G SNP HAX1 ENST00000483970 human ensembl 74_37 +1 known silent c.108 p.E36 0.715 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 28 0 0.00 31 2 6.06 HECTD4 0 genome.wustl.edu 37 12 112747374 112747374 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 112747374 112747374 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.584 p.G195D 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 53 0 0.00 34 11 24.44 HELZ2 0 genome.wustl.edu 37 20 62203546 62203546 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 20 62203546 62203546 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.193 p.A65T 0.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 135 0 0.00 68 34 33.33 HERC6 0 genome.wustl.edu 37 4 89304465 89304465 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 89304465 89304465 G T SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.292 p.A98S 0.723 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 63 0 0.00 36 2 5.26 HINFP 0 genome.wustl.edu 37 11 119004769 119004769 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 119004769 119004769 G T SNP HINFP ENST00000527410 human ensembl 74_37 +1 putative missense c.1177 p.A393S 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HINFP HGNC ENSG00000172273 tier1 - - 76 0 0.00 61 4 6.15 HIVEP2 0 genome.wustl.edu 37 6 143095361 143095361 + Missense_Mutation SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 143095361 143095361 T A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.515 p.Q172L 0.996 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 29 0 0.00 28 2 6.67 HMBOX1 0 genome.wustl.edu 37 8 28876382 28876382 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 8 28876382 28876382 G T SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known missense c.803 p.R268L 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 57 0 0.00 32 2 5.88 HOXC11 0 genome.wustl.edu 37 12 54367154 54367154 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 54367154 54367154 G T SNP HOXC11 ENST00000546378 human ensembl 74_37 +1 known missense c.129 p.E43D 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC11 HGNC ENSG00000123388 tier1 - - 33 0 0.00 30 4 11.76 HPS1 0 genome.wustl.edu 37 10 100190889 100190889 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 100190889 100190889 T C SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known missense c.667 p.S223G 1.000 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 tier1 - - 48 0 0.00 44 14 24.14 HSFY1P1 0 genome.wustl.edu 37 22 17308780 17308780 + RNA SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 17308780 17308780 G T SNP HSFY1P1 ENST00000425038 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors HSFY1P1 HGNC ENSG00000229027 tier1 - - 31 0 0.00 24 9 26.47 HTRA4 0 genome.wustl.edu 37 8 38840024 38840024 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 8 38840024 38840024 G A SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known silent c.1122 p.A374 0.245 NULL pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 34 0 0.00 33 2 5.71 IGDCC3 0 genome.wustl.edu 37 15 65623905 65623905 + Missense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 15 65623905 65623905 C A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.1241 p.R414M 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 tier1 - - 32 0 0.00 17 13 43.33 IL18BP 0 genome.wustl.edu 37 11 71711506 71711506 + Missense_Mutation SNP C C G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 71711506 71711506 C G SNP IL18BP ENST00000260049 human ensembl 74_37 +1 known missense c.138 p.S46R 0.000 NULL pfscan_Ig-like_dom - no_errors IL18BP HGNC ENSG00000137496 47 0 0.00 43 4 8.51 INPP5A 0 genome.wustl.edu 37 10 134591286 134591286 + Silent SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 134591286 134591286 G T SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known silent c.1089 p.R363 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 77 0 0.00 59 4 6.35 ITGA1 0 genome.wustl.edu 37 5 52145257 52145257 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 52145257 52145257 C T SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known silent c.120 p.S40 0.151 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 tier1 - - 50 0 0.00 38 7 15.56 ITGA3 0 genome.wustl.edu 37 17 48145589 48145589 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 48145589 48145589 G A SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known missense c.584 p.G195D 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 36 0 0.00 36 2 5.26 KCNN2 0 genome.wustl.edu 37 5 113831724 113831724 + Missense_Mutation SNP A A C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 113831724 113831724 A C SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.1585 p.S529R 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 tier1 - - 50 0 0.00 47 14 22.95 KCTD5 0 genome.wustl.edu 37 16 2749901 2749901 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 2749901 2749901 G A SNP KCTD5 ENST00000301738 human ensembl 74_37 +1 known missense c.533 p.G178D 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD5 HGNC ENSG00000167977 tier1 - - 39 0 0.00 44 4 8.33 KIAA0355 0 genome.wustl.edu 37 19 34819033 34819033 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 34819033 34819033 G A SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.1081 p.A361T 0.781 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 33 0 0.00 44 3 6.38 KIAA1430 0 genome.wustl.edu 37 4 186085253 186085253 + Silent SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 186085253 186085253 A G SNP KIAA1430 ENST00000458385 human ensembl 74_37 -1 novel silent c.1401 p.N467 0.367 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 tier1 - - 38 0 0.00 46 4 8.00 KIAA1598 0 genome.wustl.edu 37 10 118704457 118704457 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 118704457 118704457 T C SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known missense c.689 p.K230R 1.000 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 tier1 - - 39 0 0.00 44 11 20.00 KIF13A 0 genome.wustl.edu 37 6 17799582 17799582 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 17799582 17799582 G A SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.2705 p.T902M 0.987 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 tier1 - - 47 0 0.00 40 6 13.04 KIT 0 genome.wustl.edu 37 4 55561936 55561936 + Missense_Mutation SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 55561936 55561936 T A SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.326 p.V109E 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 57 0 0.00 54 4 6.90 KIT 0 genome.wustl.edu 37 4 55604601 55604601 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 55604601 55604601 T C SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.2809 p.S937P 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 45 0 0.00 56 6 9.68 KLK15 0 genome.wustl.edu 37 19 51330175 51330175 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 51330175 51330175 G A SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known missense c.440 p.S147F 0.389 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 tier1 - - 37 0 0.00 27 13 32.50 KPNA1 0 genome.wustl.edu 37 3 122144782 122144782 + RNA SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 122144782 122144782 C T SNP KPNA1 ENST00000470904 human ensembl 74_37 -1 known rna NULL NULL 0.054 - - - no_errors KPNA1 HGNC ENSG00000114030 tier1 - - 33 0 0.00 26 15 36.59 KRT20 0 genome.wustl.edu 37 17 39036471 39036471 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 39036471 39036471 C T SNP KRT20 ENST00000167588 human ensembl 74_37 -1 known missense c.673 p.V225M 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 tier1 - - 37 0 0.00 36 4 10.00 KRTAP2-4 0 genome.wustl.edu 37 17 39221946 39221946 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 39221946 39221946 G A SNP KRTAP2-4 ENST00000394015 human ensembl 74_37 -1 known missense c.152 p.T51M 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP2-4 HGNC ENSG00000213417 tier1 - - 25 0 0.00 31 9 22.50 LACTB2 0 genome.wustl.edu 37 8 71574044 71574044 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 8 71574044 71574044 G T SNP LACTB2 ENST00000276590 human ensembl 74_37 -1 known missense c.211 p.Q71K 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors LACTB2 HGNC ENSG00000147592 tier1 - - 53 0 0.00 45 4 8.16 LEF1-AS1 0 genome.wustl.edu 37 4 109088687 109088687 + RNA SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 109088687 109088687 G T SNP LEF1-AS1 ENST00000436413 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LEF1-AS1 HGNC ENSG00000232021 tier1 - - 28 0 0.00 12 10 45.45 LINC00621 0 genome.wustl.edu 37 13 23490263 23490263 + RNA SNP T T G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 13 23490263 23490263 T G SNP LINC00621 ENST00000577004 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00621 HGNC ENSG00000262619 tier1 - - 46 0 0.00 22 6 21.43 LMF2 0 genome.wustl.edu 37 22 50942261 50942261 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 50942261 50942261 C T SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known silent c.1791 p.T597 0.007 NULL pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 tier1 rs199878629 - 96 0 0.00 82 18 18.00 LOC100287177 0 genome.wustl.edu 37 19 46145701 46145701 + Missense_Mutation SNP C C G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 46145701 46145701 C G SNP LOC100287177 ENST00000593161 human ensembl 74_37 +1 putative missense c.242 p.A81G 0.001 NULL NULL - no_errors AC006132.1 Clone_based_vega_gene ENSG00000267757 tier1 - - 52 0 0.00 34 14 29.17 LOC101929232 0 genome.wustl.edu 37 15 29052119 29052119 + RNA SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 15 29052119 29052119 G A SNP LOC101929232 ENST00000562423 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 tier1 - - 87 0 0.00 63 15 19.23 LOC440157 0 genome.wustl.edu 37 14 19685493 19685493 + RNA SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 19685493 19685493 C A SNP LOC440157 ENST00000418499 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 tier1 - - 74 0 0.00 67 6 8.22 LRP2 0 genome.wustl.edu 37 2 170177381 170177381 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 170177381 170177381 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.93 p.A31 0.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 69 0 0.00 76 4 5.00 LRRIQ1 0 genome.wustl.edu 37 12 85492201 85492201 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 85492201 85492201 G T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.2956 p.G986C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 62 0 0.00 51 8 13.56 LTBP4 0 genome.wustl.edu 37 19 41117292 41117292 + Missense_Mutation SNP C C G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 41117292 41117292 C G SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.2246 p.P749R 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 tier1 - - 61 0 0.00 45 4 8.16 LY75 0 genome.wustl.edu 37 2 160661723 160661723 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 160661723 160661723 G A SNP LY75 ENST00000263636 human ensembl 74_37 -1 known silent c.5001 p.Y1667 1.000 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,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 - no_errors LY75 HGNC ENSG00000054219 57 0 0.00 49 3 5.77 LYPLAL1 0 genome.wustl.edu 37 1 219347271 219347271 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 219347271 219347271 C T SNP LYPLAL1 ENST00000366928 human ensembl 74_37 +1 known silent c.39 p.I13 0.096 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC ENSG00000143353 tier1 - - 63 0 0.00 23 13 36.11 MAMDC4 0 genome.wustl.edu 37 9 139751367 139751367 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 139751367 139751367 G A SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.2083 p.V695M 0.039 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 tier1 - - 57 0 0.00 55 4 6.78 MAP2K5 0 genome.wustl.edu 37 15 67878257 67878257 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 15 67878257 67878257 C T SNP MAP2K5 ENST00000178640 human ensembl 74_37 +1 known missense c.352 p.H118Y 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,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 MAP2K5 HGNC ENSG00000137764 tier1 - - 92 0 0.00 65 4 5.80 MAP9 0 genome.wustl.edu 37 4 156274462 156274462 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 156274462 156274462 C T SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known missense c.1411 p.A471T 0.996 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 tier1 - - 49 0 0.00 31 10 24.39 MAST1 0 genome.wustl.edu 37 19 12975991 12975991 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 12975991 12975991 A G SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.1637 p.Q546R 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 tier1 - - 44 0 0.00 11 7 38.89 MBOAT2 0 genome.wustl.edu 37 2 9008633 9008633 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 9008633 9008633 G A SNP MBOAT2 ENST00000305997 human ensembl 74_37 -1 known silent c.930 p.D310 1.000 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 tier1 rs201477086 - 57 0 0.00 25 23 47.92 MC1R 0 genome.wustl.edu 37 16 89985940 89985940 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 89985940 89985940 G T SNP MC1R ENST00000555147 human ensembl 74_37 +1 known missense c.274 p.V92L 1.000 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_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 tier1 - - 31 0 0.00 11 10 47.62 MCM3AP 0 genome.wustl.edu 37 21 47690475 47690475 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 21 47690475 47690475 T C SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.2468 p.E823G 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 83 0 0.00 68 4 5.56 MCM6 0 genome.wustl.edu 37 2 136616981 136616981 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 136616981 136616981 A G SNP MCM6 ENST00000264156 human ensembl 74_37 -1 known missense c.1252 p.Y418H 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 tier1 - - 61 0 0.00 26 3 10.34 MED24 0 genome.wustl.edu 37 17 38187474 38187474 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 38187474 38187474 G A SNP MED24 ENST00000394128 human ensembl 74_37 -1 known silent c.1092 p.L364 0.948 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 tier1 - - 54 0 0.00 53 20 27.40 MEGF6 0 genome.wustl.edu 37 1 3431195 3431195 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 3431195 3431195 T C SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.772 p.R258G 0.168 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 24 0 0.00 23 3 11.54 MFSD6 0 genome.wustl.edu 37 2 191300945 191300945 + Missense_Mutation SNP A A T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 191300945 191300945 A T SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known missense c.190 p.I64L 0.852 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 tier1 - - 27 0 0.00 15 19 55.88 MFSD6L 0 genome.wustl.edu 37 17 8702343 8702343 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 8702343 8702343 C T SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known silent c.96 p.P32 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 42 0 0.00 29 9 23.68 MOGAT3 0 genome.wustl.edu 37 7 100843572 100843572 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 100843572 100843572 C T SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known silent c.231 p.S77 0.000 pfam_DAGAT pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 tier1 - - 35 0 0.00 48 5 9.43 MT-CO1 0 genome.wustl.edu 37 MT 6075 6075 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f MT 6075 6075 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.172 p.V58I NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 59 0 0.00 17 2 10.53 MT-CO1 0 genome.wustl.edu 37 MT 6079 6079 + Missense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f MT 6079 6079 C A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.176 p.T59K NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 57 0 0.00 16 2 11.11 MT-ND5 0 genome.wustl.edu 37 MT 13498 13498 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f MT 13498 13498 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1162 p.G388S NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 23 0 0.00 3 5 62.50 MT-ND5 0 genome.wustl.edu 37 MT 13573 13573 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f MT 13573 13573 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1237 p.L413F NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 rs28462226 - 26 0 0.00 6 2 25.00 MT-ND5 0 genome.wustl.edu 37 MT 14059 14059 + Missense_Mutation SNP A A T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f MT 14059 14059 A T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1723 p.I575F NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 31 0 0.00 6 2 25.00 MUC16 0 genome.wustl.edu 37 19 9047103 9047103 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 9047103 9047103 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.34528 p.S11510P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 71 0 0.00 42 9 17.65 MUC16 0 genome.wustl.edu 37 19 9049508 9049508 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 9049508 9049508 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.32123 p.A10708V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 73 0 0.00 69 4 5.48 MVB12B 0 genome.wustl.edu 37 9 129266836 129266836 + RNA SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 129266836 129266836 G T SNP MVB12B ENST00000485886 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MVB12B HGNC ENSG00000196814 tier1 - - 60 0 0.00 54 26 32.50 MXRA5 0 genome.wustl.edu 37 X 3241682 3241682 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f X 3241682 3241682 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.2044 p.R682C 0.691 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 33 0 0.00 11 16 57.14 MYCBP2 0 genome.wustl.edu 37 13 77672299 77672299 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 13 77672299 77672299 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.8990 p.T2997I 0.997 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 75 0 0.00 56 4 6.67 MYH13 0 genome.wustl.edu 37 17 10212976 10212976 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 10212976 10212976 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.4828 p.R1610C 0.997 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 34 0 0.00 25 2 7.41 MYLK 0 genome.wustl.edu 37 3 123375992 123375992 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 123375992 123375992 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known silent c.4269 p.T1423 0.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 tier1 - - 63 0 0.00 42 23 35.38 NFS1 0 genome.wustl.edu 37 20 34287270 34287270 + RNA SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 20 34287270 34287270 G T SNP NFS1 ENST00000421540 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NFS1 HGNC ENSG00000244005 tier1 - - 21 0 0.00 22 6 20.69 NID1 0 genome.wustl.edu 37 1 236187408 236187408 + Missense_Mutation SNP C C G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 236187408 236187408 C G SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.2090 p.C697S 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 tier1 - - 46 0 0.00 27 10 27.03 NOXRED1 0 genome.wustl.edu 37 14 77861025 77861025 + Silent SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 77861025 77861025 G T SNP NOXRED1 ENST00000380835 human ensembl 74_37 -1 known silent c.1029 p.I343 0.595 NULL NULL - no_errors NOXRED1 HGNC ENSG00000165555 tier1 - - 77 0 0.00 67 4 5.63 NRXN1 0 genome.wustl.edu 37 2 50149340 50149340 + Missense_Mutation SNP T T G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 50149340 50149340 T G SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.4242 p.E1414D 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 41 0 0.00 30 9 23.08 NXPH4 0 genome.wustl.edu 37 12 57610780 57610780 + Missense_Mutation SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 57610780 57610780 T A SNP NXPH4 ENST00000349394 human ensembl 74_37 +1 known missense c.28 p.L10M 0.935 pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH4 HGNC ENSG00000182379 tier1 - - 43 0 0.00 22 12 35.29 OBSCN 0 genome.wustl.edu 37 1 228404905 228404905 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 228404905 228404905 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2569 p.A857T 0.029 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,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 78 0 0.00 71 4 5.33 OBSL1 0 genome.wustl.edu 37 2 220432568 220432568 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 220432568 220432568 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1406 p.P469L 0.047 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 62 0 0.00 29 40 57.97 OR10J1 0 genome.wustl.edu 37 1 159410362 159410362 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 159410362 159410362 C T SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.814 p.P272S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 tier1 - - 46 0 0.00 42 4 8.70 OR11H12 0 genome.wustl.edu 37 14 19377744 19377744 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 19377744 19377744 G A SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known missense c.151 p.A51T 0.131 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 tier1 - - 132 0 0.00 67 16 19.28 OR1N1 0 genome.wustl.edu 37 9 125289092 125289092 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 125289092 125289092 T C SNP OR1N1 ENST00000304880 human ensembl 74_37 -1 known missense c.481 p.M161V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N1 HGNC ENSG00000171505 tier1 - - 29 0 0.00 28 4 12.50 OR5I1 0 genome.wustl.edu 37 11 55703643 55703643 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 55703643 55703643 G T SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.234 p.D78E 0.024 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 tier1 - - 28 0 0.00 17 3 15.00 OR6C68 0 genome.wustl.edu 37 12 55886563 55886563 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 55886563 55886563 G T SNP OR6C68 ENST00000379662 human ensembl 74_37 +1 known missense c.417 p.M139I 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C68 HGNC ENSG00000205327 tier1 - - 53 0 0.00 68 4 5.56 ORC3 0 genome.wustl.edu 37 6 88313147 88313147 + Nonsense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 88313147 88313147 G T SNP ORC3 ENST00000257789 human ensembl 74_37 +1 known nonsense c.223 p.E75* 0.997 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 46 0 0.00 35 2 5.41 OTOG 0 genome.wustl.edu 37 11 17667382 17667382 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 17667382 17667382 G A SNP OTOG ENST00000399391 human ensembl 74_37 +1 known missense c.8669 p.R2890H 1.000 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 17 0 0.00 15 12 44.44 OTUB2 0 genome.wustl.edu 37 14 94503806 94503806 + Nonsense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 94503806 94503806 C A SNP OTUB2 ENST00000203664 human ensembl 74_37 +1 known nonsense c.84 p.Y28* 1.000 pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB2 HGNC ENSG00000089723 tier1 - - 51 0 0.00 30 9 23.08 P2RY6 0 genome.wustl.edu 37 11 73007970 73007970 + Missense_Mutation SNP A A T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 73007970 73007970 A T SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known missense c.407 p.H136L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y3_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 36 0 0.00 32 4 11.11 PARN 0 genome.wustl.edu 37 16 14540882 14540882 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 14540882 14540882 G T SNP PARN ENST00000437198 human ensembl 74_37 -1 known missense c.1727 p.A576D 0.034 NULL pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 tier1 - - 61 0 0.00 52 4 7.14 PAX4 0 genome.wustl.edu 37 7 127251732 127251733 + Splice_Site INS - - A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 127251732 127251733 - A INS PAX4 ENST00000341640 human ensembl 74_37 -1 known splice_site_ins c.748-3_748-2 e8-2 0.745:0.624 - - - no_errors PAX4 HGNC ENSG00000106331 tier1 16 0 0.00 15 4 21.05 PAX4 0 genome.wustl.edu 37 7 127255001 127255001 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 127255001 127255001 A G SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.269 p.L90P 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_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 24 0 0.00 34 4 10.53 PCDH11X 0 genome.wustl.edu 37 X 91090519 91090519 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f X 91090519 91090519 G T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.16 p.G6W 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 52 0 0.00 30 36 54.55 PCDH15 0 genome.wustl.edu 37 10 55912910 55912910 + Silent SNP A A C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 55912910 55912910 A C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.1734 p.T578 0.861 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 49 0 0.00 21 6 22.22 PCDHA1 0 genome.wustl.edu 37 5 140167566 140167566 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 140167566 140167566 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1691 p.A564V 0.003 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 148 0 0.00 102 29 22.14 PCDHA6 0 genome.wustl.edu 37 5 140207737 140207737 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 140207737 140207737 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.61 p.L21F 0.616 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 66 0 0.00 58 4 6.45 PCNX 0 genome.wustl.edu 37 14 71571966 71571966 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 71571966 71571966 G T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.6110 p.C2037F 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 69 0 0.00 55 4 6.78 PCOLCE2 0 genome.wustl.edu 37 3 142606566 142606566 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 142606566 142606566 C T SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known missense c.137 p.S46N 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 18 0 0.00 27 2 6.90 PGC 0 genome.wustl.edu 37 6 41710097 41710097 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 41710097 41710097 G T SNP PGC ENST00000373025 human ensembl 74_37 -1 known missense c.578 p.T193N 0.997 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 27 0 0.00 37 2 5.13 PIP4K2B 0 genome.wustl.edu 37 17 36927513 36927513 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 36927513 36927513 G T SNP PIP4K2B ENST00000269554 human ensembl 74_37 -1 known missense c.820 p.L274M 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 tier1 - - 43 0 0.00 60 4 6.25 PLEKHH2 0 genome.wustl.edu 37 2 43965591 43965591 + Nonsense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 43965591 43965591 G T SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known nonsense c.3055 p.E1019* 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom 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 16 0 0.00 29 3 9.38 PLEKHO1 0 genome.wustl.edu 37 1 150131624 150131624 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 150131624 150131624 T C SNP PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known missense c.1034 p.L345P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 tier1 - - 50 0 0.00 37 4 9.76 PON3 0 genome.wustl.edu 37 7 94991782 94991782 + Missense_Mutation SNP T T G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 94991782 94991782 T G SNP PON3 ENST00000265627 human ensembl 74_37 -1 known missense c.798 p.L266F 0.360 pfam_SGL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 tier1 - - 48 0 0.00 32 16 33.33 POT1 0 genome.wustl.edu 37 7 124503425 124503425 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 124503425 124503425 G T SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.525 p.D175E 1.000 superfamily_NA-bd_OB-fold pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 18 0 0.00 34 2 5.56 PPP1R21 0 genome.wustl.edu 37 2 48685277 48685279 + In_Frame_Del DEL TCT TCT - TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 48685277 48685279 TCT - DEL PPP1R21 ENST00000294952 human ensembl 74_37 +1 known in_frame_del c.286_288 p.S98in_frame_del 1.000:1.000:1.000 pfam_Unchr_KLRAQ/TTKRSYEDQ_N pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 tier1 24 0 0.00 17 5 22.73 PPP1R3C 0 genome.wustl.edu 37 10 93390347 93390347 + Silent SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 93390347 93390347 C A SNP PPP1R3C ENST00000238994 human ensembl 74_37 -1 known silent c.291 p.A97 0.004 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3C HGNC ENSG00000119938 tier1 - - 57 0 0.00 41 15 26.79 PPP6R1 0 genome.wustl.edu 37 19 55743292 55743292 + Silent SNP T T G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 55743292 55743292 T G SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known silent c.2184 p.R728 0.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 tier1 - - 70 0 0.00 65 29 30.85 PRORSD1P 0 genome.wustl.edu 37 2 55511335 55511335 + RNA SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 55511335 55511335 C T SNP PRORSD1P ENST00000563365 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors PRORSD1P HGNC ENSG00000162997 tier1 - - 29 0 0.00 51 4 7.27 PRR14L 0 genome.wustl.edu 37 22 32110959 32110959 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 32110959 32110959 C T SNP PRR14L ENST00000397493 human ensembl 74_37 -1 known missense c.2866 p.V956I 0.000 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 tier1 - - 49 0 0.00 36 8 18.18 PRRG2 0 genome.wustl.edu 37 19 50086513 50086513 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 50086513 50086513 G A SNP PRRG2 ENST00000246794 human ensembl 74_37 +1 known missense c.37 p.A13T 0.975 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC ENSG00000126460 tier1 - - 64 0 0.00 70 4 5.41 PSG1 0 genome.wustl.edu 37 19 43373045 43373045 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 43373045 43373045 G A SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.851 p.P284L 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 140 0 0.00 116 29 20.00 PSG3 0 genome.wustl.edu 37 19 43236999 43236999 + Nonsense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 43236999 43236999 C A SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known nonsense c.646 p.E216* 0.933 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 tier1 - - 214 0 0.00 160 64 28.57 PSMC1 0 genome.wustl.edu 37 14 90736682 90736682 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 90736682 90736682 G T SNP PSMC1 ENST00000261303 human ensembl 74_37 +1 known missense c.1174 p.G392C 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 36 0 0.00 38 4 9.52 PTCHD1 0 genome.wustl.edu 37 X 23410816 23410816 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f X 23410816 23410816 C T SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.1181 p.T394M 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 tier1 - - 21 0 0.00 13 19 59.38 PTCHD4 0 genome.wustl.edu 37 6 48036096 48036096 + Missense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 48036096 48036096 C A SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.296 p.S99I 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 tier1 - - 75 0 0.00 42 19 31.15 PTPRA 0 genome.wustl.edu 37 20 3003439 3003439 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 20 3003439 3003439 G A SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.1466 p.R489Q 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 30 0 0.00 27 3 10.00 PTPRD 0 genome.wustl.edu 37 9 8518133 8518133 + Missense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 8518133 8518133 C A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1258 p.A420S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 23 0 0.00 15 8 34.78 PTPRS 0 genome.wustl.edu 37 19 5244269 5244269 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 5244269 5244269 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.1216 p.V406I 0.969 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 74 0 0.00 60 4 6.25 PTPRS 0 genome.wustl.edu 37 19 5214445 5214445 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 5214445 5214445 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.4544 p.G1515D 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 54 0 0.00 44 3 6.38 PVRL4 0 genome.wustl.edu 37 1 161042504 161042504 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 161042504 161042504 C T SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known missense c.1480 p.A494T 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 52 0 0.00 41 3 6.82 RAG1 0 genome.wustl.edu 37 11 36595270 36595270 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 36595270 36595270 G T SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.416 p.G139V 0.019 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 tier1 rs140648865 - 35 0 0.00 29 4 11.76 RBM33 0 genome.wustl.edu 37 7 155532610 155532610 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 155532610 155532610 C T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.1939 p.P647S 0.992 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 tier1 - - 37 0 0.00 30 13 30.23 RBMXL2 0 genome.wustl.edu 37 11 7110479 7110479 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 7110479 7110479 G A SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known missense c.128 p.R43Q 0.998 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 57 0 0.00 47 27 36.49 RBMXL3 0 genome.wustl.edu 37 X 114424865 114424865 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f X 114424865 114424865 C T SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known silent c.861 p.R287 0.057 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 tier1 rs199932185 - 25 0 0.00 8 28 77.78 RELL2 0 genome.wustl.edu 37 5 141019164 141019164 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 141019164 141019164 G A SNP RELL2 ENST00000297164 human ensembl 74_37 +1 known missense c.451 p.E151K 1.000 NULL pfam_TNF_rcpt_RELT - no_errors RELL2 HGNC ENSG00000164620 tier1 - - 79 0 0.00 46 6 11.54 RGS12 0 genome.wustl.edu 37 4 3418813 3418813 + Frame_Shift_Del DEL A A - TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 3418813 3418813 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.2601 p.K869fs 0.018 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 54 0 0.00 33 2 5.71 RGS3 0 genome.wustl.edu 37 9 116259657 116259657 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 116259657 116259657 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.814 p.A272T 1.000 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 tier1 - - 66 0 0.00 48 4 7.69 RND3 0 genome.wustl.edu 37 2 151331459 151331459 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 151331459 151331459 G T SNP RND3 ENST00000263895 human ensembl 74_37 -1 known missense c.278 p.P93H 1.000 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,tigrfam_Small_GTP-bd_dom 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 RND3 HGNC ENSG00000115963 tier1 - - 64 0 0.00 53 4 7.02 ROR2 0 genome.wustl.edu 37 9 94519695 94519695 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 94519695 94519695 G A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.322 p.R108W 0.808 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 47 0 0.00 48 4 7.69 RPL23AP53 0 genome.wustl.edu 37 8 163654 163654 + RNA SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 8 163654 163654 C T SNP RPL23AP53 ENST00000606975 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL23AP53 HGNC ENSG00000223508 128 0 0.00 90 13 12.62 RPTOR 0 genome.wustl.edu 37 17 78704474 78704474 + Nonsense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 78704474 78704474 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known nonsense c.622 p.Q208* 1.000 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 35 0 0.00 37 7 15.91 RRM1 0 genome.wustl.edu 37 11 4142839 4142839 + Silent SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 4142839 4142839 T C SNP RRM1 ENST00000300738 human ensembl 74_37 +1 known silent c.882 p.P294 1.000 pfam_RNR_lg_C,prints_RNR_lg_C,tigrfam_NrdE_NrdA pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 tier1 - - 40 0 0.00 55 4 6.78 RXFP1 0 genome.wustl.edu 37 4 159538284 159538284 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 159538284 159538284 G T SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.682 p.V228F 0.988 NULL pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 tier1 - - 52 0 0.00 68 4 5.56 SCNN1G 0 genome.wustl.edu 37 16 23197645 23197645 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 23197645 23197645 C T SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.53 p.T18M 0.002 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 30 0 0.00 25 3 10.71 SEC23A 0 genome.wustl.edu 37 14 39536423 39536423 + Missense_Mutation SNP A A T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 39536423 39536423 A T SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known missense c.1181 p.M394K 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 tier1 - - 81 0 0.00 55 4 6.78 SEC31B 0 genome.wustl.edu 37 10 102249885 102249885 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 102249885 102249885 G A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.2845 p.R949C 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 tier1 rs146812157 - 67 0 0.00 30 19 38.78 SERPINB5 0 genome.wustl.edu 37 18 61160254 61160254 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 18 61160254 61160254 G A SNP SERPINB5 ENST00000382771 human ensembl 74_37 +1 known missense c.493 p.A165T 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB5 HGNC ENSG00000206075 55 0 0.00 37 2 5.13 SETBP1 0 genome.wustl.edu 37 18 42531877 42531877 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 18 42531877 42531877 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2572 p.E858K 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 41 0 0.00 37 7 15.56 SGCZ 0 genome.wustl.edu 37 8 13947970 13947970 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 8 13947970 13947970 G T SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known missense c.921 p.N307K 0.999 NULL pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 tier1 - - 44 0 0.00 35 4 10.26 SIGLEC12 0 genome.wustl.edu 37 19 52003613 52003613 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 52003613 52003613 C T SNP SIGLEC12 ENST00000598614 human ensembl 74_37 -1 putative silent c.15 p.L5 0.374 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 tier1 - - 15 0 0.00 15 4 20.00 SIGLEC6 0 genome.wustl.edu 37 19 52033988 52033988 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 52033988 52033988 G A SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known missense c.653 p.T218M 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 tier1 - - 71 0 0.00 36 25 40.98 SLAMF1 0 genome.wustl.edu 37 1 160593951 160593951 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 160593951 160593951 G A SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known missense c.725 p.A242V 0.000 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 46 0 0.00 50 3 5.66 SLC22A13 0 genome.wustl.edu 37 3 38316550 38316550 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 38316550 38316550 G A SNP SLC22A13 ENST00000450935 human ensembl 74_37 +1 known missense c.430 p.A144T 0.435 NULL NULL - no_errors SLC22A13 HGNC ENSG00000172940 50 0 0.00 35 2 5.41 SLC25A17 0 genome.wustl.edu 37 22 41173083 41173083 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 41173083 41173083 C T SNP SLC25A17 ENST00000435456 human ensembl 74_37 -1 known silent c.654 p.T218 0.003 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A17 HGNC ENSG00000100372 tier1 - - 34 0 0.00 21 12 36.36 SLC4A7 0 genome.wustl.edu 37 3 27463270 27463270 + Missense_Mutation SNP C C G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 27463270 27463270 C G SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.1267 p.V423L 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 24 0 0.00 16 7 30.43 SLC5A11 0 genome.wustl.edu 37 16 24902396 24902396 + Splice_Site SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 24902396 24902396 G T SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known splice_site c.870+1 e8+1 1.000 - - - no_errors SLC5A11 HGNC ENSG00000158865 tier1 - - 19 0 0.00 10 3 23.08 SLC6A6 0 genome.wustl.edu 37 3 14508095 14508095 + Silent SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 14508095 14508095 G T SNP SLC6A6 ENST00000360861 human ensembl 74_37 +1 known silent c.804 p.P268 0.820 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 tier1 - - 24 0 0.00 28 4 12.50 SLCO3A1 0 genome.wustl.edu 37 15 92706285 92706285 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 15 92706285 92706285 G A SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.2053 p.A685T 0.973 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 40 0 0.00 38 2 5.00 SMYD1 0 genome.wustl.edu 37 2 88387576 88387576 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 88387576 88387576 C T SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known silent c.510 p.I170 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 76 0 0.00 67 4 5.63 SNRPN 0 genome.wustl.edu 37 15 25223558 25223558 + Silent SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 15 25223558 25223558 A G SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known silent c.702 p.P234 0.998 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 tier1 - - 26 0 0.00 22 4 15.38 SNX13 0 genome.wustl.edu 37 7 17836453 17836453 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 17836453 17836453 G A SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known missense c.2623 p.P875S 1.000 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 32 0 0.00 54 4 6.90 SOGA3 0 genome.wustl.edu 37 6 127797352 127797352 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 127797352 127797352 C T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.1819 p.E607K 1.000 pfam_SOGA pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 tier1 - - 65 0 0.00 44 24 35.29 SPATA31D1 0 genome.wustl.edu 37 9 84608354 84608354 + Missense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 84608354 84608354 C A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2969 p.S990Y 0.006 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 100 0 0.00 60 35 36.84 SPEF2 0 genome.wustl.edu 37 5 35793299 35793299 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 35793299 35793299 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.4593 p.E1531 0.504 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 tier1 - - 45 0 0.00 28 17 37.78 SPN 0 genome.wustl.edu 37 16 29676104 29676104 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 29676104 29676104 G T SNP SPN ENST00000360121 human ensembl 74_37 +1 known missense c.1055 p.R352L 0.111 NULL NULL - no_errors SPN HGNC ENSG00000197471 tier1 - - 29 0 0.00 18 10 35.71 SPTA1 0 genome.wustl.edu 37 1 158639308 158639308 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 158639308 158639308 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1723 p.R575C 0.852 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 52 0 0.00 52 3 5.36 SRCAP 0 genome.wustl.edu 37 16 30740303 30740303 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 30740303 30740303 A G SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.5675 p.K1892R 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 66 0 0.00 41 4 8.89 SREK1 0 genome.wustl.edu 37 5 65475786 65475786 + RNA SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 65475786 65475786 T A SNP SREK1 ENST00000284041 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SREK1 HGNC ENSG00000153914 tier1 - - 30 0 0.00 26 3 10.00 SSH1 0 genome.wustl.edu 37 12 109186396 109186396 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 109186396 109186396 G T SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.1559 p.P520H 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 77 0 0.00 71 4 5.26 STAT3 0 genome.wustl.edu 37 17 40483492 40483492 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 40483492 40483492 G A SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known silent c.1107 p.D369 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 tier1 - - 48 0 0.00 45 10 18.18 STAT4 0 genome.wustl.edu 37 2 192011340 192011340 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 192011340 192011340 T C SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.272 p.Q91R 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 tier1 - - 68 0 0.00 73 4 5.13 STRN4 0 genome.wustl.edu 37 19 47228734 47228734 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 47228734 47228734 T C SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.1441 p.K481E 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 75 0 0.00 53 4 7.02 STT3A 0 genome.wustl.edu 37 11 125484062 125484062 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 125484062 125484062 C T SNP STT3A ENST00000392708 human ensembl 74_37 +1 known silent c.1635 p.N545 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 tier1 - - 60 0 0.00 54 17 23.94 STT3B 0 genome.wustl.edu 37 3 31656660 31656660 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 31656660 31656660 A G SNP STT3B ENST00000295770 human ensembl 74_37 +1 known missense c.941 p.Q314R 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 tier1 - - 37 0 0.00 52 4 7.14 SYNE1 0 genome.wustl.edu 37 6 152510430 152510430 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 152510430 152510430 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.23258 p.R7753H 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 35 0 0.00 32 2 5.88 SYTL2 0 genome.wustl.edu 37 11 85428540 85428540 + Missense_Mutation SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 85428540 85428540 T C SNP SYTL2 ENST00000354566 human ensembl 74_37 -1 known missense c.2615 p.E872G 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 tier1 - - 67 0 0.00 59 8 11.94 TADA1 0 genome.wustl.edu 37 1 166831598 166831598 + Nonsense_Mutation SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 166831598 166831598 T A SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known nonsense c.382 p.K128* 0.977 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 tier1 - - 54 0 0.00 64 4 5.88 TAS1R2 0 genome.wustl.edu 37 1 19180775 19180775 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 19180775 19180775 G T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.1189 p.H397N 0.998 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 18 0 0.00 21 2 8.70 TBX3 0 genome.wustl.edu 37 12 115112511 115112511 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 12 115112511 115112511 G A SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known missense c.1229 p.P410L 0.976 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 29 0 0.00 25 2 7.41 TDRD5 0 genome.wustl.edu 37 1 179590227 179590230 + Splice_Site DEL GTAA GTAA - TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 179590227 179590230 GTAA - DEL TDRD5 ENST00000444136 human ensembl 74_37 +1 known splice_site_del c.972+1_972+1 e5+1 1.000:1.000:0.997:0.996 - - - no_errors TDRD5 HGNC ENSG00000162782 tier1 60 0 0.00 66 11 14.29 TDRD7 0 genome.wustl.edu 37 9 100222868 100222868 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 100222868 100222868 G A SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.1264 p.G422S 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 46 0 0.00 42 3 6.67 TDRD9 0 genome.wustl.edu 37 14 104462118 104462118 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 14 104462118 104462118 C T SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.1352 p.S451F 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 tier1 - - 98 0 0.00 81 18 18.18 TEKT3 0 genome.wustl.edu 37 17 15231347 15231347 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 15231347 15231347 C T SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known missense c.625 p.D209N 0.999 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 tier1 - - 45 0 0.00 29 11 27.50 TENM3 0 genome.wustl.edu 37 4 183522243 183522243 + Silent SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 4 183522243 183522243 G T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.678 p.L226 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 66 0 0.00 63 25 28.09 THADA 0 genome.wustl.edu 37 2 43732856 43732856 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 43732856 43732856 G T SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.3526 p.P1176T 1.000 pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 tier1 - - 56 0 0.00 67 4 5.63 THBS2 0 genome.wustl.edu 37 6 169633059 169633059 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 169633059 169633059 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.1705 p.D569N 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 tier1 - - 75 0 0.00 38 4 9.52 TMEM134 0 genome.wustl.edu 37 11 67232151 67232153 + In_Frame_Del DEL GAA GAA - TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 67232151 67232153 GAA - DEL TMEM134 ENST00000393877 human ensembl 74_37 -1 known in_frame_del c.477_475 p.F159in_frame_del 1.000:1.000:1.000 pfam_DUF872_TM pfam_DUF872_TM - no_errors TMEM134 HGNC ENSG00000172663 tier1 73 0 0.00 59 11 15.71 TMEM86A 0 genome.wustl.edu 37 11 18722743 18722743 + Silent SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 11 18722743 18722743 T C SNP TMEM86A ENST00000280734 human ensembl 74_37 +1 known silent c.285 p.H95 0.987 pfam_YhhN pfam_YhhN - no_errors TMEM86A HGNC ENSG00000151117 tier1 - - 69 0 0.00 40 18 31.03 TMPRSS7 0 genome.wustl.edu 37 3 111795914 111795914 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 111795914 111795914 G A SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known missense c.1769 p.C590Y 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 tier1 - - 39 0 0.00 42 4 8.70 TNFAIP3 0 genome.wustl.edu 37 6 138196886 138196886 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 138196886 138196886 G T SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.548 p.R183L 0.715 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 48 0 0.00 36 2 5.26 TNFSF12 0 genome.wustl.edu 37 17 7460431 7460431 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 7460431 7460431 G T SNP TNFSF12 ENST00000293825 human ensembl 74_37 +1 known missense c.514 p.G172W 0.986 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF12 HGNC ENSG00000239697 37 0 0.00 35 2 5.41 TNRC18 0 genome.wustl.edu 37 7 5401604 5401604 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 5401604 5401604 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.4456 p.R1486W 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 62 0 0.00 73 4 5.19 TNS4 0 genome.wustl.edu 37 17 38652298 38652298 + Missense_Mutation SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 38652298 38652298 T A SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.380 p.Q127L 0.001 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 tier1 - - 46 0 0.00 43 4 8.51 TOP2A 0 genome.wustl.edu 37 17 38546372 38546372 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 38546372 38546372 G A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.4312 p.P1438S 0.956 pfam_DTHCT pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 73 0 0.00 68 7 9.33 TOPAZ1 0 genome.wustl.edu 37 3 44285525 44285525 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 3 44285525 44285525 G T SNP TOPAZ1 ENST00000309765 human ensembl 74_37 +1 known missense c.1527 p.K509N 0.000 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 tier1 - - 38 0 0.00 29 5 14.71 TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.586 p.R196* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 58 0 0.00 43 13 22.81 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 26 0 0.00 20 4 16.67 TP53BP2 0 genome.wustl.edu 37 1 223986289 223986289 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 223986289 223986289 G A SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.1576 p.P526S 0.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 tier1 - - 75 0 0.00 69 4 5.48 TRERF1 0 genome.wustl.edu 37 6 42196257 42196257 + Frame_Shift_Del DEL C C - TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 42196257 42196257 C - DEL TRERF1 ENST00000541110 human ensembl 74_37 -1 known frame_shift_del c.3489 p.L1164fs 0.971 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 tier1 28 0 0.00 37 2 5.13 TRIM31 0 genome.wustl.edu 37 6 30080455 30080455 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 30080455 30080455 A G SNP TRIM31 ENST00000376734 human ensembl 74_37 -1 known missense c.128 p.I43T 0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 tier1 - - 41 0 0.00 38 24 38.10 TRIP13 0 genome.wustl.edu 37 5 901487 901487 + Missense_Mutation SNP T T A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 5 901487 901487 T A SNP TRIP13 ENST00000166345 human ensembl 74_37 +1 known missense c.476 p.F159Y 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B - no_errors TRIP13 HGNC ENSG00000071539 tier1 - - 54 0 0.00 65 4 5.71 TRNAU1AP 0 genome.wustl.edu 37 1 28904175 28904177 + RNA DEL ATG ATG - TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 28904175 28904177 ATG - DEL TRNAU1AP ENST00000480930 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.001 - - - no_errors TRNAU1AP HGNC ENSG00000180098 tier1 19 0 0.00 11 4 26.67 TRPC5 0 genome.wustl.edu 37 X 111078237 111078237 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f X 111078237 111078237 G T SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.1808 p.T603N 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 tier1 - - 32 0 0.00 32 4 11.11 TSGA13 0 genome.wustl.edu 37 7 130353927 130353927 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 130353927 130353927 G A SNP TSGA13 ENST00000356588 human ensembl 74_37 -1 known missense c.755 p.A252V 0.008 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 tier1 - - 64 0 0.00 53 5 8.47 TSNARE1 0 genome.wustl.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 8 143310866 143310868 GAT - DEL TSNARE1 ENST00000307180 human ensembl 74_37 -1 known in_frame_del c.1521_1519 p.I507in_frame_del 0.000:0.000:0.002 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 tier1 33 0 0.00 39 4 9.30 TTC39B 0 genome.wustl.edu 37 9 15307094 15307094 + Silent SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 9 15307094 15307094 C T SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known silent c.228 p.L76 0.994 NULL pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 tier1 - - 64 0 0.00 30 10 25.00 TTN 0 genome.wustl.edu 37 2 179418788 179418788 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 179418788 179418788 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.81346 p.L27116 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 20 0 0.00 14 14 50.00 TTN 0 genome.wustl.edu 37 2 179519218 179519218 + Silent SNP T T C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 179519218 179519218 T C SNP TTN ENST00000589042 human ensembl 74_37 -1 putative silent c.38250 p.K12750 0.905 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 40 0 0.00 18 23 56.10 TXNRD2 0 genome.wustl.edu 37 22 19870861 19870861 + Missense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 22 19870861 19870861 C A SNP TXNRD2 ENST00000535882 human ensembl 74_37 -1 known missense c.1070 p.G357V 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 tier1 - - 52 0 0.00 30 5 14.29 TYRO3 0 genome.wustl.edu 37 15 41859736 41859736 + Splice_Site SNP G G C TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 15 41859736 41859736 G C SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known splice_site c.961+1 e7+1 1.000 - - - no_errors TYRO3 HGNC ENSG00000092445 32 0 0.00 35 2 5.41 UBE3A 0 genome.wustl.edu 37 15 25584312 25584312 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 15 25584312 25584312 G A SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known missense c.2600 p.T867M 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 tier1 - - 58 0 0.00 68 4 5.56 UBR4 0 genome.wustl.edu 37 1 19482038 19482038 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 19482038 19482038 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.6197 p.S2066L 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 34 0 0.00 23 4 14.81 UHRF1BP1 0 genome.wustl.edu 37 6 34802096 34802096 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 34802096 34802096 G A SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known silent c.441 p.L147 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 tier1 - - 40 0 0.00 75 4 5.06 USP39 0 genome.wustl.edu 37 2 85875088 85875088 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 85875088 85875088 G A SNP USP39 ENST00000409766 human ensembl 74_37 +1 novel missense c.1463 p.R488K 1.000 pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 tier1 - - 43 0 0.00 39 19 32.76 USP42 0 genome.wustl.edu 37 7 6180592 6180592 + Missense_Mutation SNP C C G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 6180592 6180592 C G SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.772 p.L258V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 19 0 0.00 26 2 7.14 VGLL2 0 genome.wustl.edu 37 6 117589477 117589477 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 6 117589477 117589477 A G SNP VGLL2 ENST00000326274 human ensembl 74_37 +1 known missense c.214 p.K72E 1.000 NULL pfam_Vg_Tdu - no_errors VGLL2 HGNC ENSG00000170162 tier1 - - 87 0 0.00 60 4 6.25 VSTM1 0 genome.wustl.edu 37 19 54544290 54544290 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 54544290 54544290 G A SNP VSTM1 ENST00000338372 human ensembl 74_37 -1 known silent c.636 p.S212 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM1 HGNC ENSG00000189068 52 0 0.00 42 5 10.42 YWHAG 0 genome.wustl.edu 37 7 75959049 75959049 + Missense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 75959049 75959049 C A SNP YWHAG ENST00000307630 human ensembl 74_37 -1 known missense c.589 p.A197S 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAG HGNC ENSG00000170027 tier1 - - 26 0 0.00 19 9 32.14 ZAN 0 genome.wustl.edu 37 7 100369492 100369492 + Silent SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 100369492 100369492 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known silent c.5274 p.V1758 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 68 0 0.00 48 21 30.00 ZC3H15 0 genome.wustl.edu 37 2 187359986 187359986 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 2 187359986 187359986 G T SNP ZC3H15 ENST00000337859 human ensembl 74_37 +1 known missense c.102 p.K34N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 tier1 - - 42 0 0.00 49 4 7.55 ZC3HC1 0 genome.wustl.edu 37 7 129680892 129680892 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 7 129680892 129680892 G T SNP ZC3HC1 ENST00000358303 human ensembl 74_37 -1 known missense c.308 p.A103E 1.000 pfam_Znf_C3HC-like pfam_Znf_C3HC-like,pfam_NIPA/Rsm1 - no_errors ZC3HC1 HGNC ENSG00000091732 tier1 - - 69 0 0.00 68 4 5.56 ZEB1 0 genome.wustl.edu 37 10 31810442 31810442 + Nonsense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 10 31810442 31810442 C T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known nonsense c.2182 p.Q728* 0.986 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 26 0 0.00 37 3 7.50 ZNF114 0 genome.wustl.edu 37 19 48789377 48789377 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 48789377 48789377 G T SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.496 p.D166Y 0.001 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 18 0 0.00 27 4 12.90 ZNF18 0 genome.wustl.edu 37 17 11895864 11895864 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 17 11895864 11895864 C T SNP ZNF18 ENST00000322748 human ensembl 74_37 -1 known missense c.283 p.G95R 0.959 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 tier1 - - 51 0 0.00 49 15 23.44 ZNF470 0 genome.wustl.edu 37 19 57089220 57089220 + Missense_Mutation SNP C C A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 57089220 57089220 C A SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.1423 p.H475N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 tier1 - - 45 0 0.00 44 13 22.81 ZNF471 0 genome.wustl.edu 37 19 57036330 57036330 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 57036330 57036330 C T SNP ZNF471 ENST00000591537 human ensembl 74_37 +1 putative missense c.473 p.P158L 0.814 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 tier1 - - 47 0 0.00 43 17 28.33 ZNF613 0 genome.wustl.edu 37 19 52448197 52448197 + Missense_Mutation SNP G G A TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 52448197 52448197 G A SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known missense c.1061 p.R354H 0.895 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 ZNF613 HGNC ENSG00000176024 54 0 0.00 50 3 5.66 ZNF724P 0 genome.wustl.edu 37 19 23405581 23405581 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 19 23405581 23405581 A G SNP ZNF724P ENST00000418100 human ensembl 74_37 -1 novel missense c.1466 p.L489P 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 ZNF724P HGNC ENSG00000196081 tier1 - - 58 0 0.00 30 4 11.76 ZNF785 0 genome.wustl.edu 37 16 30596833 30596833 + Missense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 16 30596833 30596833 C T SNP ZNF785 ENST00000395216 human ensembl 74_37 -1 known missense c.100 p.V34M 0.864 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF785 HGNC ENSG00000197162 50 0 0.00 42 4 8.70 ZRANB2 0 genome.wustl.edu 37 1 71536538 71536538 + Missense_Mutation SNP A A G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5818360-5a6d-4513-9b7b-07a0fd43189a 6b659589-badb-4cff-9ca1-e9c1c2c1c86f 1 71536538 71536538 A G SNP ZRANB2 ENST00000370920 human ensembl 74_37 -1 known missense c.655 p.S219P 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 tier1 - - 71 0 0.00 68 6 8.11