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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA4 0 genome.wustl.edu 37 1 94577116 94577116 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 94577116 94577116 C T SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known silent c.180 p.A60 0.986 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 99 0 0.00 24 14 36.84 - - - ABL1 0 genome.wustl.edu 37 9 133753849 133753849 + Missense_Mutation SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 133753849 133753849 T C SNP ABL1 ENST00000372348 human ensembl 69_37n +1 known missense c.1375 p.Y459H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 354 0 0.00 161 31 16.15 - - - ADAMTS12 0 genome.wustl.edu 37 5 33576371 33576371 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 33576371 33576371 C T SNP ADAMTS12 ENST00000504830 human ensembl 69_37n -1 known missense c.3760 p.D1254N 0.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 609 1 0.16 222 83 27.21 - - - AKAP3 0 genome.wustl.edu 37 12 4737716 4737716 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 4737716 4737716 C G SNP AKAP3 ENST00000228850 human ensembl 69_37n -1 known missense c.352 p.G118R 0.000 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 465 0 0.00 168 56 25.00 - - - ANKRD26 0 genome.wustl.edu 37 10 27324347 27324347 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 10 27324347 27324347 G C SNP ANKRD26 ENST00000436985 human ensembl 69_37n -1 known missense c.3080 p.S1027C 0.006 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 587 0 0.00 247 165 39.95 - - - ANO10 0 genome.wustl.edu 37 3 43640099 43640099 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 3 43640099 43640099 C G SNP ANO10 ENST00000292246 human ensembl 69_37n -1 known missense c.397 p.E133Q 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 294 0 0.00 103 38 26.95 - - - ARRDC3 0 genome.wustl.edu 37 5 90669934 90669934 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 90669934 90669934 C T SNP ARRDC3 ENST00000265138 human ensembl 69_37n -1 known missense c.1030 p.E344K 1.000 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 384 0 0.00 50 31 37.80 - - - ATF6 0 genome.wustl.edu 37 1 161771862 161771862 + Nonsense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 161771862 161771862 C T SNP ATF6 ENST00000367942 human ensembl 69_37n +1 known nonsense c.709 p.Q237* 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP - no_errors ATF6 HGNC ENSG00000118217 377 0 0.00 99 41 29.29 - - - ATP1A4 0 genome.wustl.edu 37 1 160121908 160121908 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 160121908 160121908 C G SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known missense c.78 p.I26M 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 176 1 0.56 57 27 31.76 - - - ATRX 0 genome.wustl.edu 37 X 76938228 76938229 + Frame_Shift_Del DEL TC TC - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 X 76938228 76938229 TC - DEL ATRX ENST00000373344 human ensembl 69_37n -1 known frame_shift_del c.2520_2519 p.R840fs 0.854:0.868 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 1299 0 0.00 385 138 26.09 - - - BAZ2A 0 genome.wustl.edu 37 12 57006975 57006975 + Missense_Mutation SNP A A C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 57006975 57006975 A C SNP BAZ2A ENST00000551812 human ensembl 69_37n -1 known missense c.965 p.L322R 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 396 3 0.75 148 67 31.02 - - - BDP1 0 genome.wustl.edu 37 5 70806172 70806172 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 70806172 70806172 G A SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.3253 p.E1085K 0.003 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 499 1 0.20 199 79 28.42 - - - BRDT 0 genome.wustl.edu 37 1 92443818 92443818 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 92443818 92443818 G A SNP BRDT ENST00000362005 human ensembl 69_37n +1 known missense c.1063 p.D355N 1.000 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 211 0 0.00 32 34 51.52 - - - BSN 0 genome.wustl.edu 37 3 49695519 49695519 + Nonsense_Mutation SNP A A T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 3 49695519 49695519 A T SNP BSN ENST00000296452 human ensembl 69_37n +1 known nonsense c.8530 p.K2844* 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 69 0 0.00 8 5 38.46 - - - BTD 0 genome.wustl.edu 37 3 15686759 15686759 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 3 15686759 15686759 C G SNP BTD ENST00000303498 human ensembl 69_37n +1 known missense c.1396 p.L466V 0.000 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 268 0 0.00 97 33 25.38 - - - C1orf85 0 genome.wustl.edu 37 1 156264264 156264264 + Nonsense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 156264264 156264264 C T SNP C1orf85 ENST00000362007 human ensembl 69_37n -1 known nonsense c.471 p.W157* 1.000 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 97 0 0.00 55 14 20.00 - - - C2orf68 0 genome.wustl.edu 37 2 85836560 85836560 + Nonsense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 85836560 85836560 G A SNP C2orf68 ENST00000306336 human ensembl 69_37n -1 known nonsense c.376 p.Q126* 1.000 pfam_UPF0561 pfam_UPF0561 - no_errors C2orf68 HGNC ENSG00000168887 233 0 0.00 59 27 31.40 - - - C2orf71 0 genome.wustl.edu 37 2 29296746 29296746 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 29296746 29296746 C T SNP C2orf71 ENST00000331664 human ensembl 69_37n -1 novel missense c.382 p.D128N 0.002 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 306 0 0.00 118 36 23.38 - - - C3orf65 0 genome.wustl.edu 37 3 185434630 185434630 + RNA SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 3 185434630 185434630 C G SNP C3orf65 ENST00000470754 human ensembl 69_37n +1 putative rna NULL NULL 0.067 - - - no_errors C3orf65 HGNC ENSG00000163915 106 0 0.00 35 21 36.84 - - - CACNA1A 0 genome.wustl.edu 37 19 13339552 13339552 + Silent SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 13339552 13339552 G A SNP CACNA1A ENST00000573710 human ensembl 69_37n -1 known silent c.5586 p.L1862 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 123 0 0.00 71 20 21.98 - - - CACNA1B 0 genome.wustl.edu 37 9 140880937 140880937 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 140880937 140880937 C G SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known missense c.1845 p.F615L 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 47 0 0.00 28 11 28.21 - - - CAPN3 0 genome.wustl.edu 37 15 42681294 42681294 + Silent SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 15 42681294 42681294 T C SNP CAPN3 ENST00000397163 human ensembl 69_37n +1 known silent c.801 p.D267 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN3 HGNC ENSG00000092529 198 0 0.00 79 21 20.79 - - - CASC5 0 genome.wustl.edu 37 15 40943718 40943718 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 15 40943718 40943718 G C SNP CASC5 ENST00000346991 human ensembl 69_37n +1 known missense c.6340 p.D2114H 0.989 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 178 0 0.00 67 24 26.37 - - - CBFB 0 genome.wustl.edu 37 16 67100703 67100703 + Splice_Site SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 16 67100703 67100703 T C SNP CBFB ENST00000290858 human ensembl 69_37n +1 known splice_site c.399+2 e4+2 1.000 - - - no_errors CBFB HGNC ENSG00000067955 134 0 0.00 34 22 39.29 - - - CC2D1B 0 genome.wustl.edu 37 1 52824025 52824025 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 52824025 52824025 G A SNP CC2D1B ENST00000371586 human ensembl 69_37n -1 known missense c.1439 p.P480L 0.016 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC ENSG00000154222 78 0 0.00 13 6 31.58 - - - CCDC132 0 genome.wustl.edu 37 7 92979203 92979203 + Missense_Mutation SNP G G T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 7 92979203 92979203 G T SNP CCDC132 ENST00000305866 human ensembl 69_37n +1 known missense c.2321 p.S774I 1.000 pfam_DUF2451_C pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 471 0 0.00 139 40 22.22 - - - CCT4 0 genome.wustl.edu 37 2 62104097 62104097 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 62104097 62104097 C T SNP CCT4 ENST00000394440 human ensembl 69_37n -1 known silent c.735 p.K245 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_delta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta - no_errors CCT4 HGNC ENSG00000115484 325 0 0.00 106 48 30.97 - - - CCT6A 0 genome.wustl.edu 37 7 56128610 56128610 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 7 56128610 56128610 G A SNP CCT6A ENST00000275603 human ensembl 69_37n +1 known missense c.1324 p.D442N 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 121 0 0.00 61 24 28.24 - - - CDCA3 0 genome.wustl.edu 37 12 6958758 6958758 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 6958758 6958758 G A SNP CDCA3 ENST00000538862 human ensembl 69_37n -1 known missense c.515 p.S172L 0.146 NULL NULL - no_errors CDCA3 HGNC ENSG00000111665 300 1 0.33 122 34 21.79 - - - CDH13 0 genome.wustl.edu 37 16 83704566 83704566 + Missense_Mutation SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 16 83704566 83704566 T C SNP CDH13 ENST00000566620 human ensembl 69_37n +1 known missense c.1273 p.S425P 0.900 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 544 1 0.18 268 42 13.55 - - - CEP89 0 genome.wustl.edu 37 19 33424376 33424376 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 33424376 33424376 C T SNP CEP89 ENST00000305768 human ensembl 69_37n -1 known silent c.867 p.E289 0.003 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 656 0 0.00 343 69 16.75 - - - CHGB 0 genome.wustl.edu 37 20 5903764 5903764 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 20 5903764 5903764 G A SNP CHGB ENST00000378961 human ensembl 69_37n +1 known missense c.974 p.R325K 0.042 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 267 0 0.00 95 44 31.65 - - - COL14A1 0 genome.wustl.edu 37 8 121180436 121180436 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 121180436 121180436 G C SNP COL14A1 ENST00000297848 human ensembl 69_37n +1 known missense c.386 p.R129T 1.000 NULL pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 1154 0 0.00 593 123 17.18 - - - DMXL2 0 genome.wustl.edu 37 15 51778534 51778534 + Missense_Mutation SNP C C A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 15 51778534 51778534 C A SNP DMXL2 ENST00000543779 human ensembl 69_37n -1 known missense c.5218 p.V1740L 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 254 1 0.39 77 38 32.76 - - - DNAH2 0 genome.wustl.edu 37 17 7736526 7736526 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 17 7736526 7736526 G C SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.13116 p.K4372N 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 59 0 0.00 10 5 33.33 - - - DNAH3 0 genome.wustl.edu 37 16 21042410 21042410 + Missense_Mutation SNP A A T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 16 21042410 21042410 A T SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.5396 p.I1799N 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 285 0 0.00 146 25 14.53 - - - DSP 0 genome.wustl.edu 37 6 7567629 7567629 + Nonsense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 6 7567629 7567629 C T SNP DSP ENST00000379802 human ensembl 69_37n +1 known nonsense c.1087 p.Q363* 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 229 0 0.00 129 51 28.33 - - - DYDC2 0 genome.wustl.edu 37 10 82122706 82122706 + Splice_Site SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 10 82122706 82122706 G C SNP DYDC2 ENST00000372198 human ensembl 69_37n +1 known splice_site c.190-1 e3-1 0.029 - - - no_errors DYDC2 HGNC ENSG00000133665 458 0 0.00 235 68 22.44 - - - DYRK1A 0 genome.wustl.edu 37 21 38884518 38884518 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 21 38884518 38884518 C T SNP DYRK1A ENST00000398960 human ensembl 69_37n +1 known missense c.1976 p.S659F 1.000 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 304 0 0.00 120 57 32.20 - - - EGR3 0 genome.wustl.edu 37 8 22548604 22548604 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 22548604 22548604 C T SNP EGR3 ENST00000317216 human ensembl 69_37n -1 known silent c.546 p.A182 0.961 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 51 0 0.00 8 5 38.46 - - - EPHA4 0 genome.wustl.edu 37 2 222365820 222365820 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 222365820 222365820 G C SNP EPHA4 ENST00000281821 human ensembl 69_37n -1 known missense c.896 p.S299C 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 177 0 0.00 60 30 32.97 - - - ERCC6L2 0 genome.wustl.edu 37 9 98669392 98669392 + Silent SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 98669392 98669392 C G SNP ERCC6L2 ENST00000437817 human ensembl 69_37n +1 known silent c.93 p.L31 0.998 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 484 0 0.00 125 66 34.55 - - - EXOC5 0 genome.wustl.edu 37 14 57714369 57714369 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 14 57714369 57714369 G C SNP EXOC5 ENST00000413566 human ensembl 69_37n -1 known missense c.89 p.S30C 1.000 NULL pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 27 0 0.00 10 5 33.33 - - - FAM179A 0 genome.wustl.edu 37 2 29268249 29268249 + Missense_Mutation SNP G G T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 29268249 29268249 G T SNP FAM179A ENST00000379558 human ensembl 69_37n +1 known missense c.2695 p.V899L 0.005 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 158 0 0.00 54 16 22.86 - - - FAM186B 0 genome.wustl.edu 37 12 49994808 49994808 + Missense_Mutation SNP C C A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 49994808 49994808 C A SNP FAM186B ENST00000257894 human ensembl 69_37n -1 known missense c.615 p.M205I 0.000 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 237 0 0.00 80 25 23.81 - - - FAM190B 0 genome.wustl.edu 37 10 86273469 86273469 + Missense_Mutation SNP A A T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 10 86273469 86273469 A T SNP FAM190B ENST00000372088 human ensembl 69_37n +1 known missense c.2590 p.T864S 0.067 NULL NULL - no_errors FAM190B HGNC ENSG00000107771 126 0 0.00 35 52 59.09 - - - FAM5C 0 genome.wustl.edu 37 1 190234086 190234086 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 190234086 190234086 G A SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known missense c.527 p.T176M 0.997 smart_MACPF pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 188 0 0.00 77 20 20.41 - - - FAM91A1 0 genome.wustl.edu 37 8 124799973 124799973 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 124799973 124799973 C G SNP FAM91A1 ENST00000334705 human ensembl 69_37n +1 known missense c.1261 p.L421V 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 231 0 0.00 105 22 17.19 - - - FANCI 0 genome.wustl.edu 37 15 89843030 89843030 + Splice_Site SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 15 89843030 89843030 G C SNP FANCI ENST00000310775 human ensembl 69_37n +1 known splice_site c.2637-1 e24-1 1.000 - - - no_errors FANCI HGNC ENSG00000140525 260 0 0.00 41 19 31.15 - - - FBN1 0 genome.wustl.edu 37 15 48720661 48720661 + Missense_Mutation SNP A A T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 15 48720661 48720661 A T SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.6879 p.N2293K 0.590 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 193 0 0.00 72 23 24.21 - - - FBXL13 0 genome.wustl.edu 37 7 102665560 102665560 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 7 102665560 102665560 C T SNP FBXL13 ENST00000313221 human ensembl 69_37n -1 known missense c.445 p.E149K 0.000 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC ENSG00000161040 216 0 0.00 66 15 18.52 - - - FGF5 0 genome.wustl.edu 37 4 81188146 81188146 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 4 81188146 81188146 C T SNP FGF5 ENST00000312465 human ensembl 69_37n +1 known silent c.168 p.S56 0.304 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF5 HGNC ENSG00000138675 156 0 0.00 63 12 16.00 - - - FTSJD1 0 genome.wustl.edu 37 16 71317656 71317656 + Frame_Shift_Del DEL T T - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 16 71317656 71317656 T - DEL FTSJD1 ENST00000338099 human ensembl 69_37n -1 known frame_shift_del c.2168 p.Q723fs 1.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJD1 HGNC ENSG00000180917 261 0 0.00 49 38 40.86 - - - GLB1L 0 genome.wustl.edu 37 2 220104395 220104395 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 220104395 220104395 C T SNP GLB1L ENST00000295759 human ensembl 69_37n -1 known missense c.790 p.E264K 1.000 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 336 0 0.00 116 16 12.03 - - - GLI1 0 genome.wustl.edu 37 12 57859009 57859009 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 57859009 57859009 C G SNP GLI1 ENST00000228682 human ensembl 69_37n +1 known missense c.505 p.Q169E 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 141 0 0.00 60 25 29.41 - - - GLT25D2 0 genome.wustl.edu 37 1 183938428 183938428 + Silent SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 183938428 183938428 G C SNP GLT25D2 ENST00000361927 human ensembl 69_37n -1 known silent c.807 p.V269 1.000 NULL pfam_Glyco_trans_25 - no_errors GLT25D2 HGNC ENSG00000198756 193 0 0.00 48 22 31.43 - - - GOLPH3L 0 genome.wustl.edu 37 1 150621202 150621202 + Silent SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 150621202 150621202 T C SNP GOLPH3L ENST00000271732 human ensembl 69_37n -1 known silent c.453 p.K151 1.000 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3L HGNC ENSG00000143457 241 0 0.00 121 26 17.69 - - - GRIN3A 0 genome.wustl.edu 37 9 104341570 104341570 + Silent SNP A A G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 104341570 104341570 A G SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known silent c.2839 p.L947 1.000 prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 272 0 0.00 70 39 35.45 - - - HAMP 0 genome.wustl.edu 37 19 35775852 35775852 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 35775852 35775852 G C SNP HAMP ENST00000222304 human ensembl 69_37n +1 known missense c.162 p.Q54H 0.030 pfam_Hepcidin pfam_Hepcidin - no_errors HAMP HGNC ENSG00000105697 219 1 0.45 30 13 30.23 - - - HDHD1 0 genome.wustl.edu 37 X 7023816 7023816 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 X 7023816 7023816 C T SNP HDHD1 ENST00000424830 human ensembl 69_37n -1 known missense c.194 p.S65N 0.988 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC ENSG00000130021 84 0 0.00 56 9 13.85 - - - HEATR1 0 genome.wustl.edu 37 1 236748383 236748383 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 236748383 236748383 C T SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.2183 p.R728K 0.989 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 259 0 0.00 84 43 33.86 - - - HEATR8 0 genome.wustl.edu 37 1 55158189 55158189 + Missense_Mutation SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 55158189 55158189 T C SNP HEATR8 ENST00000421030 human ensembl 69_37n +1 known missense c.2804 p.M935T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 78 0 0.00 19 9 32.14 - - - IL27RA 0 genome.wustl.edu 37 19 14161686 14161686 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 14161686 14161686 C T SNP IL27RA ENST00000263379 human ensembl 69_37n +1 known missense c.1519 p.H507Y 0.010 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 80 0 0.00 22 12 35.29 - - - ITGA2 0 genome.wustl.edu 37 5 52363035 52363035 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 52363035 52363035 C T SNP ITGA2 ENST00000296585 human ensembl 69_37n +1 known silent c.2031 p.L677 0.081 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGA2 HGNC ENSG00000164171 239 0 0.00 64 14 17.95 - - - ITGA7 0 genome.wustl.edu 37 12 56082684 56082684 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 56082684 56082684 C G SNP ITGA7 ENST00000555728 human ensembl 69_37n -1 known missense c.3034 p.D1012H 0.993 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 121 0 0.00 43 20 31.75 - - - ITGA7 0 genome.wustl.edu 37 12 56096685 56096685 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 56096685 56096685 G A SNP ITGA7 ENST00000555728 human ensembl 69_37n -1 known missense c.385 p.R129W 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 233 0 0.00 78 36 31.58 - - - ITIH6 0 genome.wustl.edu 37 X 54781528 54781528 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 X 54781528 54781528 C T SNP ITIH6 ENST00000218436 human ensembl 69_37n -1 known missense c.3124 p.D1042N 0.019 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 382 1 0.26 149 56 27.18 - - - KCNA1 0 genome.wustl.edu 37 12 5020629 5020629 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 5020629 5020629 G A SNP KCNA1 ENST00000382545 human ensembl 69_37n +1 known missense c.85 p.D29N 0.954 prints_K_chnl_volt-dep_Kv1.3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 38 0 0.00 19 17 45.95 - - - KDM5C 0 genome.wustl.edu 37 X 53240703 53240703 + Missense_Mutation SNP T T G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 X 53240703 53240703 T G SNP KDM5C ENST00000375401 human ensembl 69_37n -1 known missense c.1377 p.K459N 0.999 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 135 0 0.00 104 17 14.05 - - - KIAA1324L 0 genome.wustl.edu 37 7 86547849 86547849 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 7 86547849 86547849 G C SNP KIAA1324L ENST00000450689 human ensembl 69_37n -1 known missense c.1502 p.S501C 1.000 superfamily_Growth_fac_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324L HGNC ENSG00000164659 679 0 0.00 159 64 28.57 - - - LAG3 0 genome.wustl.edu 37 12 6882449 6882449 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 6882449 6882449 C T SNP LAG3 ENST00000203629 human ensembl 69_37n +1 known silent c.150 p.L50 0.007 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors LAG3 HGNC ENSG00000089692 264 0 0.00 30 11 26.19 - - - LARP1 0 genome.wustl.edu 37 5 154185485 154185485 + Missense_Mutation SNP G G T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 154185485 154185485 G T SNP LARP1 ENST00000336314 human ensembl 69_37n +1 known missense c.2360 p.C787F 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 374 1 0.27 132 40 23.12 - - - LDLR 0 genome.wustl.edu 37 19 11218157 11218157 + Silent SNP C C A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 11218157 11218157 C A SNP LDLR ENST00000558518 human ensembl 69_37n +1 known silent c.907 p.R303 0.999 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LDLR HGNC ENSG00000130164 59 0 0.00 22 23 51.11 - - - LDLR 0 genome.wustl.edu 37 19 11218158 11218158 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 11218158 11218158 G A SNP LDLR ENST00000558518 human ensembl 69_37n +1 known missense c.908 p.R303Q 0.998 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LDLR HGNC ENSG00000130164 57 0 0.00 22 22 50.00 - - - LEMD3 0 genome.wustl.edu 37 12 65564185 65564185 + Frame_Shift_Del DEL C C - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 65564185 65564185 C - DEL LEMD3 ENST00000308330 human ensembl 69_37n +1 known frame_shift_del c.809 p.S271fs 0.961 NULL pfam_Inner-Nucl-membr_MAN1,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors LEMD3 HGNC ENSG00000174106 63 0 0.00 14 2 12.50 - - - LIN54 0 genome.wustl.edu 37 4 83849430 83849430 + Missense_Mutation SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 4 83849430 83849430 T C SNP LIN54 ENST00000340417 human ensembl 69_37n -1 known missense c.2075 p.E692G 1.000 NULL pfam_TCR - no_errors LIN54 HGNC ENSG00000189308 219 0 0.00 72 23 23.96 - - - LINGO4 0 genome.wustl.edu 37 1 151773745 151773745 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 151773745 151773745 C T SNP LINGO4 ENST00000368820 human ensembl 69_37n -1 known missense c.1436 p.R479K 0.895 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO4 HGNC ENSG00000213171 379 0 0.00 119 56 32.00 - - - MACF1 0 genome.wustl.edu 37 1 39916733 39916733 + Missense_Mutation SNP G G T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 39916733 39916733 G T SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.14091 p.K4697N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 353 0 0.00 73 58 44.27 - - - MAEL 0 genome.wustl.edu 37 1 166985513 166985513 + Silent SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 166985513 166985513 G A SNP MAEL ENST00000367872 human ensembl 69_37n +1 known silent c.900 p.K300 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 373 0 0.00 126 32 20.25 - - - MAPK8 0 genome.wustl.edu 37 10 49618209 49618209 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 10 49618209 49618209 C T SNP MAPK8 ENST00000360332 human ensembl 69_37n +1 known missense c.448 p.R150W 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 990 2 0.20 430 144 25.09 - - - MBTPS2 0 genome.wustl.edu 37 X 21871596 21871596 + Silent SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 X 21871596 21871596 C G SNP MBTPS2 ENST00000379484 human ensembl 69_37n +1 known silent c.645 p.V215 0.985 pfam_Peptidase_M50,superfamily_PDZ pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP - no_errors MBTPS2 HGNC ENSG00000012174 527 0 0.00 530 69 11.50 - - - MDGA2 0 genome.wustl.edu 37 14 47342770 47342770 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 14 47342770 47342770 G A SNP MDGA2 ENST00000399232 human ensembl 69_37n -1 known missense c.2618 p.S873L 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 361 0 0.00 107 41 27.33 - - - METTL13 0 genome.wustl.edu 37 1 171765635 171765635 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 171765635 171765635 C T SNP METTL13 ENST00000361735 human ensembl 69_37n +1 known silent c.1839 p.L613 0.988 pfam_Spermidine/spermine_synthase pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 508 0 0.00 163 81 32.79 - - - MOS 0 genome.wustl.edu 37 8 57025782 57025782 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 57025782 57025782 C G SNP MOS ENST00000311923 human ensembl 69_37n -1 known missense c.760 p.E254Q 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors MOS HGNC ENSG00000172680 53 0 0.00 20 6 23.08 - - - MPP6 0 genome.wustl.edu 37 7 24681452 24681452 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 7 24681452 24681452 G A SNP MPP6 ENST00000222644 human ensembl 69_37n +1 known missense c.235 p.E79K 1.000 pfam_L27_C,smart_L27,pfscan_L27 pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP6 HGNC ENSG00000105926 442 1 0.23 166 57 25.56 - - - MRPL1 0 genome.wustl.edu 37 4 78873708 78873708 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 4 78873708 78873708 C T SNP MRPL1 ENST00000315567 human ensembl 69_37n +1 known missense c.925 p.P309S 0.005 superfamily_Ribosomal_L1_SF pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF,tigrfam_Ribosomal_L1_mit - no_errors MRPL1 HGNC ENSG00000169288 242 0 0.00 74 25 25.25 - - - MRPS9 0 genome.wustl.edu 37 2 105665628 105665628 + Splice_Site SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 105665628 105665628 G C SNP MRPS9 ENST00000258455 human ensembl 69_37n +1 known splice_site c.136-1 e2-1 1.000 - - - no_errors MRPS9 HGNC ENSG00000135972 318 0 0.00 101 21 17.21 - - - MTF2 0 genome.wustl.edu 37 1 93599740 93599740 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 93599740 93599740 C G SNP MTF2 ENST00000370298 human ensembl 69_37n +1 known missense c.1412 p.S471C 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 392 0 0.00 81 54 39.71 - - - MYO9B 0 genome.wustl.edu 37 19 17212831 17212831 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 17212831 17212831 G A SNP MYO9B ENST00000397274 human ensembl 69_37n +1 known missense c.304 p.E102K 0.259 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 57 0 0.00 25 8 23.53 - - - MYOM2 0 genome.wustl.edu 37 8 2000312 2000312 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 2000312 2000312 G C SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known missense c.144 p.L48F 0.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 337 0 0.00 121 28 18.79 - - - NCKAP1L 0 genome.wustl.edu 37 12 54914999 54914999 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 54914999 54914999 G A SNP NCKAP1L ENST00000293373 human ensembl 69_37n +1 known missense c.1855 p.E619K 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 348 0 0.00 162 74 31.36 - - - NCOA6 0 genome.wustl.edu 37 20 33345176 33345176 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 20 33345176 33345176 G C SNP NCOA6 ENST00000359003 human ensembl 69_37n -1 known missense c.1375 p.Q459E 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 312 0 0.00 103 39 27.46 - - - NLRC4 0 genome.wustl.edu 37 2 32475388 32475388 + Silent SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 32475388 32475388 G A SNP NLRC4 ENST00000360906 human ensembl 69_37n -1 known silent c.1545 p.H515 0.052 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 283 0 0.00 109 48 30.57 - - - NUGGC 0 genome.wustl.edu 37 8 27886887 27886887 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 27886887 27886887 C G SNP NUGGC ENST00000341513 human ensembl 69_37n -1 known missense c.2050 p.E684Q 0.999 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 82 0 0.00 31 9 22.50 - - - OBSCN 0 genome.wustl.edu 37 1 228491624 228491625 + Frame_Shift_Del DEL AC AC - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 228491624 228491625 AC - DEL OBSCN ENST00000366707 human ensembl 69_37n +1 known frame_shift_del c.4057_4058 p.L1354fs 0.004:0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,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_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 197 0 0.00 74 41 34.75 - - - OR4N2 0 genome.wustl.edu 37 14 20296308 20296308 + Missense_Mutation SNP A A G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 14 20296308 20296308 A G SNP OR4N2 ENST00000315947 human ensembl 69_37n +1 known missense c.701 p.N234S 0.138 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 672 0 0.00 266 106 28.49 - - - OR7D2 0 genome.wustl.edu 37 19 9296715 9296715 + Silent SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 9296715 9296715 G A SNP OR7D2 ENST00000344248 human ensembl 69_37n +1 known silent c.258 p.Q86 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR7D2 HGNC ENSG00000188000 833 2 0.24 389 126 24.42 - - - OSM 0 genome.wustl.edu 37 22 30662766 30662767 + Frame_Shift_Del DEL CT CT - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 22 30662766 30662767 CT - DEL OSM ENST00000215781 human ensembl 69_37n -1 known frame_shift_del c.23_22 p.R8fs 0.104:0.160 pfam_Leukemia_IF/oncostatin pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin - no_errors OSM HGNC ENSG00000099985 12 0 0.00 9 4 30.77 - - - PARVB 0 genome.wustl.edu 37 22 44514987 44514987 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 22 44514987 44514987 C T SNP PARVB ENST00000406477 human ensembl 69_37n +1 known silent c.442 p.L148 0.993 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 117 0 0.00 75 9 10.71 - - - PCDHB12 0 genome.wustl.edu 37 5 140588724 140588724 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 140588724 140588724 G C SNP PCDHB12 ENST00000239450 human ensembl 69_37n +1 known missense c.245 p.G82A 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 274 0 0.00 95 20 17.39 - - - PCDHB4 0 genome.wustl.edu 37 5 140503220 140503220 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 140503220 140503220 G A SNP PCDHB4 ENST00000194152 human ensembl 69_37n +1 known missense c.1640 p.R547H 0.696 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 132 0 0.00 47 10 17.54 - - - PCDHGA10 0 genome.wustl.edu 37 5 140795061 140795061 + Silent SNP C C A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 140795061 140795061 C A SNP PCDHGA10 ENST00000398610 human ensembl 69_37n +1 known silent c.2319 p.I773 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 184 0 0.00 61 7 10.29 - - - PCDHGB6 0 genome.wustl.edu 37 5 140789141 140789141 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 140789141 140789141 G A SNP PCDHGB6 ENST00000520790 human ensembl 69_37n +1 known missense c.1372 p.V458M 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 89 0 0.00 21 10 32.26 - - - PDE3B 0 genome.wustl.edu 37 11 14865386 14865386 + Silent SNP A A G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 11 14865386 14865386 A G SNP PDE3B ENST00000282096 human ensembl 69_37n +1 known silent c.2334 p.R778 0.158 smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 566 0 0.00 192 37 16.09 - - - PDE5A 0 genome.wustl.edu 37 4 120432238 120432238 + Missense_Mutation SNP A A G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 4 120432238 120432238 A G SNP PDE5A ENST00000503412 human ensembl 69_37n -1 putative missense c.107 p.I36T 0.996 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,prints_PDEase - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PDE5A HGNC ENSG00000138735 586 0 0.00 136 26 15.95 - - - PIGT 0 genome.wustl.edu 37 20 44045206 44045206 + Silent SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 20 44045206 44045206 G A SNP PIGT ENST00000279036 human ensembl 69_37n +1 known silent c.237 p.K79 1.000 pfam_Gpi16 pfam_Gpi16 - no_errors PIGT HGNC ENSG00000124155 81 0 0.00 43 8 15.69 - - - PIM2 0 genome.wustl.edu 37 X 48775085 48775085 + Silent SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 X 48775085 48775085 C G SNP PIM2 ENST00000376509 human ensembl 69_37n -1 known silent c.195 p.R65 0.997 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM2 HGNC ENSG00000102096 38 0 0.00 12 9 42.86 - - - PIP4K2C 0 genome.wustl.edu 37 12 57994184 57994184 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 57994184 57994184 G C SNP PIP4K2C ENST00000354947 human ensembl 69_37n +1 known missense c.777 p.K259N 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 PIP4K2C HGNC ENSG00000166908 268 0 0.00 59 16 20.78 - - - PLA2G12B 0 genome.wustl.edu 37 10 74702434 74702434 + Silent SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 10 74702434 74702434 G A SNP PLA2G12B ENST00000373032 human ensembl 69_37n -1 known silent c.276 p.F92 1.000 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12B HGNC ENSG00000138308 40 0 0.00 16 7 30.43 - - - PLA2G15 0 genome.wustl.edu 37 16 68289854 68289855 + Frame_Shift_Ins INS - - G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 16 68289854 68289855 - G INS PLA2G15 ENST00000219345 human ensembl 69_37n +1 known frame_shift_ins c.688_689 p.V233fs 1.000:1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 18 0 0.00 3 2 40.00 - - - PLEKHG6 0 genome.wustl.edu 37 12 6436478 6436478 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 6436478 6436478 G A SNP PLEKHG6 ENST00000011684 human ensembl 69_37n +1 known missense c.1729 p.D577N 0.283 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 272 0 0.00 47 11 18.97 - - - PLK1 0 genome.wustl.edu 37 16 23693394 23693394 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 16 23693394 23693394 G C SNP PLK1 ENST00000300093 human ensembl 69_37n +1 known missense c.732 p.L244F 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK1 HGNC ENSG00000166851 213 0 0.00 114 52 31.33 - - - PPHLN1 0 genome.wustl.edu 37 12 42781327 42781327 + Missense_Mutation SNP C C A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 42781327 42781327 C A SNP PPHLN1 ENST00000395568 human ensembl 69_37n +1 known missense c.638 p.S213Y 0.931 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 347 0 0.00 113 65 36.52 - - - PPL 0 genome.wustl.edu 37 16 4934651 4934651 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 16 4934651 4934651 C T SNP PPL ENST00000345988 human ensembl 69_37n -1 known silent c.4005 p.Q1335 0.115 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 655 1 0.15 191 74 27.61 - - - PPP1R9A 0 genome.wustl.edu 37 7 94917854 94917854 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 7 94917854 94917854 G A SNP PPP1R9A ENST00000289495 human ensembl 69_37n +1 known missense c.3502 p.D1168N 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 267 0 0.00 95 31 24.60 - - - PRAMEF10 0 genome.wustl.edu 37 1 12954599 12954599 + Silent SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 12954599 12954599 C G SNP PRAMEF10 ENST00000235347 human ensembl 69_37n -1 known silent c.684 p.L228 0.019 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 524 0 0.00 268 55 17.03 - - - PTPRD 0 genome.wustl.edu 37 9 8449827 8449827 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 8449827 8449827 C G SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known missense c.3886 p.E1296Q 1.000 NULL 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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 525 0 0.00 109 57 34.34 - - - RBM33 0 genome.wustl.edu 37 7 155473535 155473535 + Missense_Mutation SNP A A G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 7 155473535 155473535 A G SNP RBM33 ENST00000401878 human ensembl 69_37n +1 known missense c.500 p.E167G 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 240 0 0.00 79 20 20.20 - - - RC3H2 0 genome.wustl.edu 37 9 125618153 125618153 + Nonsense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 125618153 125618153 G C SNP RC3H2 ENST00000357244 human ensembl 69_37n -1 known nonsense c.2459 p.S820* 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 172 0 0.00 47 10 17.24 - - - RIMS2 0 genome.wustl.edu 37 8 105010426 105010426 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 105010426 105010426 C G SNP RIMS2 ENST00000436393 human ensembl 69_37n +1 novel missense c.2392 p.L798V 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 964 1 0.10 530 154 22.48 - - - ROPN1 0 genome.wustl.edu 37 3 123694377 123694377 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 3 123694377 123694377 C T SNP ROPN1 ENST00000184183 human ensembl 69_37n -1 known missense c.245 p.R82K 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1 HGNC ENSG00000065371 98 0 0.00 24 17 41.46 - - - RPTN 0 genome.wustl.edu 37 1 152129240 152129240 + Missense_Mutation SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 152129240 152129240 T C SNP RPTN ENST00000316073 human ensembl 69_37n -1 known missense c.335 p.K112R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors RPTN HGNC ENSG00000215853 1214 1 0.08 358 190 34.61 - - - RRS1 0 genome.wustl.edu 37 8 67342428 67342430 + In_Frame_Del DEL AGG AGG - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 67342428 67342430 AGG - DEL RRS1 ENST00000320270 human ensembl 69_37n +1 known in_frame_del c.1062_1064 p.G356in_frame_del 0.999:0.998:0.996 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 200 0 0.00 73 15 17.05 - - - SAMD4A 0 genome.wustl.edu 37 14 55168944 55168944 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 14 55168944 55168944 G A SNP SAMD4A ENST00000392067 human ensembl 69_37n +1 known missense c.361 p.E121K 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 209 0 0.00 80 25 23.81 - - - SAMHD1 0 genome.wustl.edu 37 20 35555629 35555629 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 20 35555629 35555629 C G SNP SAMHD1 ENST00000262878 human ensembl 69_37n -1 known missense c.652 p.D218H 1.000 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 535 2 0.37 242 102 29.39 - - - SERPINA12 0 genome.wustl.edu 37 14 94962895 94962895 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 14 94962895 94962895 C T SNP SERPINA12 ENST00000341228 human ensembl 69_37n -1 known missense c.720 p.M240I 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA12 HGNC ENSG00000165953 572 0 0.00 172 201 53.89 - - - SETX 0 genome.wustl.edu 37 9 135201859 135201859 + Missense_Mutation SNP T T G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 135201859 135201859 T G SNP SETX ENST00000372169 human ensembl 69_37n -1 known missense c.5126 p.K1709T 0.928 NULL NULL - no_errors SETX HGNC ENSG00000107290 471 0 0.00 211 94 30.62 - - - SEZ6L2 0 genome.wustl.edu 37 16 29898983 29898983 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 16 29898983 29898983 C T SNP SEZ6L2 ENST00000308713 human ensembl 69_37n -1 known missense c.1195 p.E399K 1.000 superfamily_CUB,smart_CUB,pfscan_CUB pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 154 0 0.00 59 11 15.71 - - - SIDT1 0 genome.wustl.edu 37 3 113302310 113302310 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 3 113302310 113302310 G C SNP SIDT1 ENST00000393830 human ensembl 69_37n +1 known missense c.802 p.D268H 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 158 0 0.00 35 11 23.91 - - - SLAIN2 0 genome.wustl.edu 37 4 48371964 48371964 + Missense_Mutation SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 4 48371964 48371964 T C SNP SLAIN2 ENST00000264313 human ensembl 69_37n +1 known missense c.488 p.V163A 1.000 NULL NULL - no_errors SLAIN2 HGNC ENSG00000109171 305 0 0.00 57 43 43.00 - - - SLC26A9 0 genome.wustl.edu 37 1 205904876 205904876 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 205904876 205904876 C G SNP SLC26A9 ENST00000340781 human ensembl 69_37n -1 known missense c.73 p.E25Q 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 193 0 0.00 60 36 37.50 - - - SLC26A9 0 genome.wustl.edu 37 1 205904946 205904946 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 205904946 205904946 C T SNP SLC26A9 ENST00000340781 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 129 0 0.00 28 22 44.00 - - - SLC4A5 0 genome.wustl.edu 37 2 74452135 74452135 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 74452135 74452135 G C SNP SLC4A5 ENST00000425249 human ensembl 69_37n -1 novel missense c.2801 p.S934C 0.001 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_stop_codon:bad_bp_length_for_coding_region SLC4A5 HGNC ENSG00000188687 189 0 0.00 78 42 35.00 - - - SMAD4 0 genome.wustl.edu 37 18 48586275 48586275 + Frame_Shift_Del DEL C C - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 18 48586275 48586275 C - DEL SMAD4 ENST00000342988 human ensembl 69_37n +1 known frame_shift_del c.944 p.N316fs 1.000 superfamily_SMAD_FHA_domain pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 324 0 0.00 88 44 32.35 - - - SMC4 0 genome.wustl.edu 37 3 160119723 160119723 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 3 160119723 160119723 G C SNP SMC4 ENST00000344722 human ensembl 69_37n +1 known missense c.160 p.D54H 0.990 NULL pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 250 0 0.00 48 30 38.46 - - - SMC6 0 genome.wustl.edu 37 2 17906553 17906556 + Frame_Shift_Del DEL TTCT TTCT - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 TTCT TTCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 17906553 17906556 TTCT - DEL SMC6 ENST00000381272 human ensembl 69_37n -1 known frame_shift_del c.775_772 p.R258fs 1.000:1.000:1.000:1.000 NULL NULL - no_errors SMC6 HGNC ENSG00000163029 109 0 0.00 46 16 25.81 - - - SMCR8 0 genome.wustl.edu 37 17 18219650 18219650 + Silent SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 17 18219650 18219650 T C SNP SMCR8 ENST00000406438 human ensembl 69_37n +1 known silent c.547 p.L183 1.000 pfam_Folliculin pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 120 0 0.00 53 12 18.46 - - - SNX33 0 genome.wustl.edu 37 15 75949547 75949547 + Nonsense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 15 75949547 75949547 C T SNP SNX33 ENST00000569152 human ensembl 69_37n +1 novel nonsense c.841 p.Q281* 0.709 pfam_Sorting_nexin_WASP-bd-dom pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SNX33 HGNC ENSG00000173548 140 0 0.00 58 19 24.68 - - - SPEF2 0 genome.wustl.edu 37 5 35740104 35740104 + Silent SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 5 35740104 35740104 G A SNP SPEF2 ENST00000356031 human ensembl 69_37n +1 known silent c.3147 p.L1049 0.947 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 572 0 0.00 262 100 27.40 - - - STK4 0 genome.wustl.edu 37 20 43703693 43703693 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 20 43703693 43703693 G C SNP STK4 ENST00000372806 human ensembl 69_37n +1 known missense c.1340 p.R447T 1.000 pfam_SARAH_domain,pfscan_SARAH pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom - no_errors STK4 HGNC ENSG00000101109 153 0 0.00 103 17 14.05 - - - SYBU 0 genome.wustl.edu 37 8 110590147 110590147 + Silent SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 110590147 110590147 C G SNP SYBU ENST00000276646 human ensembl 69_37n -1 known silent c.834 p.V278 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 485 0 0.00 402 46 10.22 - - - SYNE2 0 genome.wustl.edu 37 14 64488685 64488685 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 14 64488685 64488685 C T SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known silent c.5463 p.V1821 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 248 0 0.00 110 29 20.86 - - - SYNE2 0 genome.wustl.edu 37 14 64494451 64494451 + Silent SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 14 64494451 64494451 C T SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known silent c.6654 p.F2218 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 332 0 0.00 109 32 22.70 - - - SYNE2 0 genome.wustl.edu 37 14 64497798 64497798 + Missense_Mutation SNP C C A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 14 64497798 64497798 C A SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.6944 p.S2315Y 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 292 0 0.00 77 15 16.30 - - - SYT2 0 genome.wustl.edu 37 1 202571103 202571103 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 202571103 202571103 C G SNP SYT2 ENST00000367267 human ensembl 69_37n -1 known missense c.716 p.G239A 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting - no_errors SYT2 HGNC ENSG00000143858 365 1 0.27 129 54 29.51 - - - TAS2R19 0 genome.wustl.edu 37 12 11175145 11175145 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 11175145 11175145 G A SNP TAS2R19 ENST00000390673 human ensembl 69_37n -1 known missense c.26 p.S9L 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R19 HGNC ENSG00000212124 322 0 0.00 104 43 29.05 - - - TBP 0 genome.wustl.edu 37 6 170871064 170871064 + Silent SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 6 170871064 170871064 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.240 p.Q80 1.000 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 24 0 0.00 33 8 19.05 - - - TMEM67 0 genome.wustl.edu 37 8 94784835 94784835 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 94784835 94784835 G C SNP TMEM67 ENST00000453321 human ensembl 69_37n +1 known missense c.670 p.E224Q 1.000 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt - no_errors TMEM67 HGNC ENSG00000164953 423 0 0.00 196 47 19.18 - - - TMEM87B 0 genome.wustl.edu 37 2 112873718 112873718 + Nonstop_Mutation SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 112873718 112873718 T C SNP TMEM87B ENST00000283206 human ensembl 69_37n +1 known nonstop c.1666 p.*556R 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 92 0 0.00 19 8 29.63 - - - TMPRSS11A 0 genome.wustl.edu 37 4 68784731 68784731 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 4 68784731 68784731 C G SNP TMPRSS11A ENST00000334830 human ensembl 69_37n -1 known missense c.921 p.L307F 0.006 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 302 0 0.00 136 34 19.88 - - - TP53 0 genome.wustl.edu 37 17 7578222 7578223 + Frame_Shift_Del DEL TC TC - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 17 7578222 7578223 TC - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.627_626 p.R209fs 0.000:0.000 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 161 0 0.00 66 36 35.29 - - - TRDMT1 0 genome.wustl.edu 37 10 17199723 17199723 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 10 17199723 17199723 C G SNP TRDMT1 ENST00000377799 human ensembl 69_37n -1 known missense c.604 p.E202Q 0.004 pfam_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 201 0 0.00 104 26 20.00 - - - TRIM16 0 genome.wustl.edu 37 17 15535029 15535029 + Splice_Site SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 17 15535029 15535029 C G SNP TRIM16 ENST00000336708 human ensembl 69_37n -1 known splice_site c.1016-1 e5-1 1.000 - - - no_errors TRIM16 HGNC ENSG00000221926 121 0 0.00 15 8 34.78 - - - TRNT1 0 genome.wustl.edu 37 3 3189137 3189137 + Missense_Mutation SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 3 3189137 3189137 T C SNP TRNT1 ENST00000251607 human ensembl 69_37n +1 known missense c.806 p.L269S 0.984 NULL pfam_PolA_pol_head_dom - no_errors TRNT1 HGNC ENSG00000072756 380 0 0.00 180 43 19.20 - - - TTI2 0 genome.wustl.edu 37 8 33361052 33361052 + Missense_Mutation SNP T T A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 8 33361052 33361052 T A SNP TTI2 ENST00000360742 human ensembl 69_37n -1 known missense c.1154 p.E385V 1.000 pfam_DUF2454,superfamily_ARM-type_fold pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 405 0 0.00 186 31 14.03 - - - TTYH2 0 genome.wustl.edu 37 17 72245191 72245191 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 17 72245191 72245191 G A SNP TTYH2 ENST00000528128 human ensembl 69_37n +1 known missense c.211 p.E71K 1.000 pfam_Tweety pfam_Tweety - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TTYH2 HGNC ENSG00000141540 140 0 0.00 43 23 34.85 - - - UNC119B 0 genome.wustl.edu 37 12 121154503 121154503 + Missense_Mutation SNP T T A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 121154503 121154503 T A SNP UNC119B ENST00000344651 human ensembl 69_37n +1 known missense c.431 p.F144Y 1.000 pfam_GMP_PDE_delta,superfamily_Ig_E-set pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors UNC119B HGNC ENSG00000175970 215 0 0.00 45 14 22.95 - - - UNC79 0 genome.wustl.edu 37 14 94087993 94087993 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 14 94087993 94087993 G A SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known missense c.4480 p.E1494K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 583 0 0.00 147 149 50.34 - - - UPF2 0 genome.wustl.edu 37 10 12071466 12071466 + Silent SNP T T C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 10 12071466 12071466 T C SNP UPF2 ENST00000356352 human ensembl 69_37n -1 known silent c.423 p.R141 0.993 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 516 0 0.00 246 175 41.47 - - - USP5 0 genome.wustl.edu 37 12 6961446 6961446 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 6961446 6961446 G A SNP USP5 ENST00000229268 human ensembl 69_37n +1 known missense c.103 p.D35N 1.000 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP5 HGNC ENSG00000111667 12 0 0.00 10 5 33.33 - - - USP5 0 genome.wustl.edu 37 12 6967614 6967614 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 12 6967614 6967614 G C SNP USP5 ENST00000229268 human ensembl 69_37n +1 known missense c.891 p.E297D 1.000 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP5 HGNC ENSG00000111667 120 0 0.00 49 17 25.76 - - - UTP14C 0 genome.wustl.edu 37 13 52604942 52604942 + Missense_Mutation SNP A A C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 13 52604942 52604942 A C SNP UTP14C ENST00000521776 human ensembl 69_37n +1 known missense c.2002 p.I668L 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 934 0 0.00 305 158 33.98 - - - UTRN 0 genome.wustl.edu 37 6 144835162 144835162 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 6 144835162 144835162 G C SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.5062 p.E1688Q 1.000 pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 574 1 0.17 266 56 17.34 - - - WASF1 0 genome.wustl.edu 37 6 110426631 110426631 + Missense_Mutation SNP G G T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 6 110426631 110426631 G T SNP WASF1 ENST00000359451 human ensembl 69_37n -1 known missense c.692 p.P231Q 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 378 1 0.26 118 108 47.58 - - - WNK4 0 genome.wustl.edu 37 17 40948199 40948200 + Frame_Shift_Del DEL TA TA - TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 17 40948199 40948200 TA - DEL WNK4 ENST00000246914 human ensembl 69_37n +1 known frame_shift_del c.3490_3491 p.Y1164fs 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC ENSG00000126562 77 0 0.00 26 4 12.12 - - - WNT7A 0 genome.wustl.edu 37 3 13860570 13860570 + Missense_Mutation SNP C C A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 3 13860570 13860570 C A SNP WNT7A ENST00000285018 human ensembl 69_37n -1 known missense c.921 p.M307I 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7A HGNC ENSG00000154764 44 0 0.00 34 10 22.73 - - - ZBTB6 0 genome.wustl.edu 37 9 125673289 125673289 + Nonsense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 125673289 125673289 G A SNP ZBTB6 ENST00000373659 human ensembl 69_37n -1 known nonsense c.1063 p.Q355* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 220 0 0.00 93 43 31.62 - - - ZBTB6 0 genome.wustl.edu 37 9 125673973 125673973 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 125673973 125673973 G C SNP ZBTB6 ENST00000373659 human ensembl 69_37n -1 known missense c.379 p.L127V 0.608 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 525 0 0.00 170 79 31.73 - - - ZBTB6 0 genome.wustl.edu 37 9 125674188 125674188 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 9 125674188 125674188 G C SNP ZBTB6 ENST00000373659 human ensembl 69_37n -1 known missense c.164 p.S55C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 597 0 0.00 191 69 26.54 - - - ZFP161 0 genome.wustl.edu 37 18 5291339 5291339 + Missense_Mutation SNP C C T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 18 5291339 5291339 C T SNP ZFP161 ENST00000357006 human ensembl 69_37n -1 known missense c.868 p.G290S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZFP161 HGNC ENSG00000198081 194 0 0.00 24 6 20.00 - - - ZIM3 0 genome.wustl.edu 37 19 57647337 57647337 + Missense_Mutation SNP G G C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 57647337 57647337 G C SNP ZIM3 ENST00000269834 human ensembl 69_37n -1 known missense c.368 p.S123C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM3 HGNC ENSG00000141946 725 0 0.00 375 109 22.38 - - - ZNF33B 0 genome.wustl.edu 37 10 43127865 43127865 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 10 43127865 43127865 G A SNP ZNF33B ENST00000359467 human ensembl 69_37n -1 known missense c.32 p.S11L 0.902 superfamily_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 ZNF33B HGNC ENSG00000196693 228 0 0.00 93 46 33.09 - - - ZNF350 0 genome.wustl.edu 37 19 52468721 52468721 + Nonsense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 52468721 52468721 G A SNP ZNF350 ENST00000243644 human ensembl 69_37n -1 known nonsense c.985 p.Q329* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 468 0 0.00 144 52 26.53 - - - ZNF45 0 genome.wustl.edu 37 19 44417544 44417544 + Nonsense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 44417544 44417544 G A SNP ZNF45 ENST00000269973 human ensembl 69_37n -1 known nonsense c.2044 p.R682* 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF45 HGNC ENSG00000124459 502 0 0.00 274 37 11.90 - - - ZNF737 0 genome.wustl.edu 37 19 20728199 20728199 + Silent SNP A A C TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 20728199 20728199 A C SNP ZNF737 ENST00000427401 human ensembl 69_37n -1 known silent c.810 p.S270 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 ZNF737 HGNC ENSG00000237440 345 0 0.00 148 66 30.70 - - - ZNF772 0 genome.wustl.edu 37 19 57985633 57985633 + Missense_Mutation SNP G G T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 19 57985633 57985633 G T SNP ZNF772 ENST00000343280 human ensembl 69_37n -1 known missense c.479 p.A160D 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF772 HGNC ENSG00000197128 279 0 0.00 72 33 31.43 - - - ZP4 0 genome.wustl.edu 37 1 238046042 238046042 + Missense_Mutation SNP G G A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 1 238046042 238046042 G A SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known missense c.1495 p.R499C 0.000 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 144 0 0.00 45 27 37.50 - - - ZRANB3 0 genome.wustl.edu 37 2 135988439 135988439 + Missense_Mutation SNP C C A TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 2 135988439 135988439 C A SNP ZRANB3 ENST00000264159 human ensembl 69_37n -1 known missense c.1598 p.R533I 0.014 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 321 0 0.00 136 61 30.96 - - - ZWINT 0 genome.wustl.edu 37 10 58119265 58119265 + Missense_Mutation SNP G G T TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ab9bf7a6-688e-4388-9682-6b1616723fde 81550760-c58d-4ae7-90eb-9a436d664442 10 58119265 58119265 G T SNP ZWINT ENST00000373944 human ensembl 69_37n -1 known missense c.452 p.A151E 0.024 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 236 0 0.00 83 17 17.00 - - -