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 ABCA8 0 genome.wustl.edu 37 17 66928618 66928618 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 17 66928618 66928618 G A SNP ABCA8 ENST00000430352 human ensembl 69_37n -1 known missense c.608 p.S203L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 66 0 0.00 74 24 24.49 - - - APLF 0 genome.wustl.edu 37 2 68740758 68740758 + Missense_Mutation SNP A A T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 2 68740758 68740758 A T SNP APLF ENST00000303795 human ensembl 69_37n +1 known missense c.568 p.M190L 1.000 NULL pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC ENSG00000169621 67 0 0.00 67 22 24.72 - - - APP 0 genome.wustl.edu 37 21 27254037 27254037 + Nonsense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 21 27254037 27254037 G A SNP APP ENST00000346798 human ensembl 69_37n -1 known nonsense c.2257 p.Q753* 1.000 pfam_APP_amyloid_C,prints_Amyloid_glyco pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 114 0 0.00 86 17 16.50 - - - APP 0 genome.wustl.edu 37 21 27254038 27254038 + Missense_Mutation SNP C C A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 21 27254038 27254038 C A SNP APP ENST00000346798 human ensembl 69_37n -1 known missense c.2256 p.M752I 1.000 pfam_APP_amyloid_C,prints_Amyloid_glyco pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 113 0 0.00 88 17 16.19 - - - ATP2A1 0 genome.wustl.edu 37 16 28913342 28913342 + Missense_Mutation SNP C C G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 16 28913342 28913342 C G SNP ATP2A1 ENST00000357084 human ensembl 69_37n +1 known missense c.2259 p.I753M 1.000 prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr 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,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 132 0 0.00 140 53 27.32 - - - C2CD3 0 genome.wustl.edu 37 11 73872571 73872571 + Missense_Mutation SNP G G T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 11 73872571 73872571 G T SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known missense c.356 p.T119N 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 80 0 0.00 86 53 38.13 - - - CACNA1A 0 genome.wustl.edu 37 19 13368334 13368334 + Missense_Mutation SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 19 13368334 13368334 C T SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.4420 p.E1474K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 139 0 0.00 166 33 16.58 - - - CCDC141 0 genome.wustl.edu 37 2 179718227 179718227 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 2 179718227 179718227 G A SNP CCDC141 ENST00000420890 human ensembl 69_37n -1 known missense c.3185 p.S1062L 0.956 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 132 0 0.00 154 23 12.99 - - - CDH1 0 genome.wustl.edu 37 16 68856011 68856011 + Missense_Mutation SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 16 68856011 68856011 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known missense c.1819 p.P607S 0.914 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 71 0 0.00 42 19 31.15 - - - CDH23 0 genome.wustl.edu 37 10 73326553 73326553 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 10 73326553 73326553 G A SNP CDH23 ENST00000224721 human ensembl 69_37n +1 known missense c.499 p.G167R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 35 0 0.00 45 12 21.05 - - - CEP85L 0 genome.wustl.edu 37 6 118886718 118886718 + Silent SNP G G T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 6 118886718 118886718 G T SNP CEP85L ENST00000368488 human ensembl 69_37n -1 known silent c.1003 p.R335 0.371 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 62 0 0.00 58 17 22.67 - - - DDX4 0 genome.wustl.edu 37 5 55042014 55042014 + Missense_Mutation SNP G G C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 5 55042014 55042014 G C SNP DDX4 ENST00000505374 human ensembl 69_37n +1 known missense c.92 p.G31A 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 115 0 0.00 127 51 28.65 - - - DMXL2 0 genome.wustl.edu 37 15 51742471 51742471 + Missense_Mutation SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 15 51742471 51742471 C T SNP DMXL2 ENST00000543779 human ensembl 69_37n -1 known missense c.8759 p.G2920D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 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 101 0 0.00 116 53 31.36 - - - DOPEY1 0 genome.wustl.edu 37 6 83869520 83869520 + Nonsense_Mutation SNP C C A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 6 83869520 83869520 C A SNP DOPEY1 ENST00000349129 human ensembl 69_37n +1 known nonsense c.6803 p.S2268* 1.000 NULL pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 105 0 0.00 92 22 19.30 - - - EPPK1 0 genome.wustl.edu 37 8 144940300 144940300 + Silent SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 8 144940300 144940300 G A SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known silent c.7122 p.R2374 0.998 pfam_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 44 0 0.00 156 201 56.30 - - - FANCB 0 genome.wustl.edu 37 X 14871186 14871186 + Missense_Mutation SNP T T A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 X 14871186 14871186 T A SNP FANCB ENST00000324138 human ensembl 69_37n -1 known missense c.1301 p.D434V 0.000 NULL NULL - no_errors FANCB HGNC ENSG00000181544 126 0 0.00 147 39 20.97 - - - GALNT8 0 genome.wustl.edu 37 12 4855388 4855388 + Silent SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 12 4855388 4855388 C T SNP GALNT8 ENST00000252318 human ensembl 69_37n +1 known silent c.1137 p.L379 0.926 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 122 0 0.00 143 62 30.10 - - - GJB5 0 genome.wustl.edu 37 1 35223650 35223650 + Missense_Mutation SNP A A C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 1 35223650 35223650 A C SNP GJB5 ENST00000338513 human ensembl 69_37n +1 known missense c.719 p.Q240P 0.057 prints_Connexin311 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311 - no_errors GJB5 HGNC ENSG00000189280 93 0 0.00 80 21 20.79 - - - HSPD1 0 genome.wustl.edu 37 2 198363536 198363537 + Frame_Shift_Ins INS - - T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 2 198363536 198363537 - T INS HSPD1 ENST00000345042 human ensembl 69_37n -1 known frame_shift_ins c.37_36 p.P12fs 1.000:1.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 41 0 0.00 26 9 25.71 - - - JMJD1C 0 genome.wustl.edu 37 10 64968401 64968401 + Missense_Mutation SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 10 64968401 64968401 C T SNP JMJD1C ENST00000399262 human ensembl 69_37n -1 known missense c.3028 p.E1010K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 139 0 0.00 129 41 24.12 - - - KCNH1 0 genome.wustl.edu 37 1 211263988 211263988 + Missense_Mutation SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 1 211263988 211263988 C T SNP KCNH1 ENST00000271751 human ensembl 69_37n -1 known missense c.355 p.E119K 1.000 pfam_PAS_fold,smart_PAC,prints_K_chnl_volt-dep_EAG,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 84 0 0.00 75 76 50.33 - - - KCNJ12 0 genome.wustl.edu 37 17 21319943 21319943 + Missense_Mutation SNP A A G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 17 21319943 21319943 A G SNP KCNJ12 ENST00000331718 human ensembl 69_37n +1 known missense c.1289 p.E430G 1.000 NULL pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 9 0 0.00 15 11 42.31 - - - KRT1 0 genome.wustl.edu 37 12 53074048 53074048 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 12 53074048 53074048 G A SNP KRT1 ENST00000252244 human ensembl 69_37n -1 known missense c.85 p.R29C 0.583 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 170 0 0.00 81 16 16.49 - - - LMO2 0 genome.wustl.edu 37 11 33886168 33886168 + Silent SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 11 33886168 33886168 G A SNP LMO2 ENST00000257818 human ensembl 69_37n -1 known silent c.444 p.L148 0.890 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO2 HGNC ENSG00000135363 20 0 0.00 30 5 13.89 - - - MPP5 0 genome.wustl.edu 37 14 67790494 67790494 + Missense_Mutation SNP C C G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 14 67790494 67790494 C G SNP MPP5 ENST00000261681 human ensembl 69_37n +1 known missense c.1816 p.R606G 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,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 MPP5 HGNC ENSG00000072415 44 0 0.00 72 33 31.43 - - - MTSS1 0 genome.wustl.edu 37 8 125711807 125711807 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 8 125711807 125711807 G A SNP MTSS1 ENST00000522162 human ensembl 69_37n -1 putative missense c.152 p.T51M 0.728 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MTSS1 HGNC ENSG00000170873 71 0 0.00 98 25 20.33 - - - MYO6 0 genome.wustl.edu 37 6 76623827 76623827 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 6 76623827 76623827 G A SNP MYO6 ENST00000369981 human ensembl 69_37n +1 known missense c.3490 p.E1164K 1.000 NULL pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 73 0 0.00 48 40 45.45 - - - NETO1 0 genome.wustl.edu 37 18 70417314 70417314 + Missense_Mutation SNP G G T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 18 70417314 70417314 G T SNP NETO1 ENST00000327305 human ensembl 69_37n -1 known missense c.1524 p.H508Q 0.999 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 139 0 0.00 74 29 28.16 - - - NFATC3 0 genome.wustl.edu 37 16 68215432 68215432 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 16 68215432 68215432 G A SNP NFATC3 ENST00000346183 human ensembl 69_37n +1 known missense c.1970 p.G657E 1.000 superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 49 0 0.00 70 15 17.65 - - - NOP14 0 genome.wustl.edu 37 4 2940561 2940561 + Missense_Mutation SNP T T A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 4 2940561 2940561 T A SNP NOP14 ENST00000416614 human ensembl 69_37n -1 known missense c.2571 p.K857N 0.737 NULL pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 161 0 0.00 105 25 19.23 - - - NUP155 0 genome.wustl.edu 37 5 37330153 37330153 + Silent SNP G G T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 5 37330153 37330153 G T SNP NUP155 ENST00000231498 human ensembl 69_37n -1 known silent c.1711 p.R571 1.000 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 71 0 0.00 61 29 32.22 - - - OR1L8 0 genome.wustl.edu 37 9 125329986 125329986 + Missense_Mutation SNP G G T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 9 125329986 125329986 G T SNP OR1L8 ENST00000304865 human ensembl 69_37n -1 known missense c.771 p.F257L 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 OR1L8 HGNC ENSG00000171496 39 0 0.00 45 11 19.64 - - - PAK4 0 genome.wustl.edu 37 19 39660228 39660228 + Missense_Mutation SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 19 39660228 39660228 C T SNP PAK4 ENST00000358301 human ensembl 69_37n +1 known missense c.35 p.S12F 0.998 pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC ENSG00000130669 11 0 0.00 17 7 28.00 - - - PLEKHH2 0 genome.wustl.edu 37 2 43992655 43992655 + Missense_Mutation SNP C C A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 2 43992655 43992655 C A SNP PLEKHH2 ENST00000282406 human ensembl 69_37n +1 known missense c.4400 p.T1467N 0.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 79 0 0.00 63 19 23.17 - - - PPFIA1 0 genome.wustl.edu 37 11 70171069 70171069 + Silent SNP G G C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 11 70171069 70171069 G C SNP PPFIA1 ENST00000253925 human ensembl 69_37n +1 known silent c.483 p.L161 0.917 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 29 0 0.00 21 8 27.59 - - - PPP2R1A 0 genome.wustl.edu 37 19 52705251 52705251 + Missense_Mutation SNP G G C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 19 52705251 52705251 G C SNP PPP2R1A ENST00000322088 human ensembl 69_37n +1 known missense c.133 p.E45Q 0.998 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 69 0 0.00 87 21 19.44 - - - PRICKLE2 0 genome.wustl.edu 37 3 64142855 64142855 + Missense_Mutation SNP A A G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 3 64142855 64142855 A G SNP PRICKLE2 ENST00000295902 human ensembl 69_37n -1 known missense c.583 p.C195R 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 35 0 0.00 44 11 20.00 - - - PSIP1 0 genome.wustl.edu 37 9 15489983 15489983 + Splice_Site SNP C C A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 9 15489983 15489983 C A SNP PSIP1 ENST00000380733 human ensembl 69_37n -1 known splice_site c.288+1 e3+1 1.000 - - - no_errors PSIP1 HGNC ENSG00000164985 134 0 0.00 158 29 15.34 - - - PTEN 0 genome.wustl.edu 37 10 89690810 89690813 + Frame_Shift_Del DEL GAAA GAAA - TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 GAAA GAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 10 89690810 89690813 GAAA - DEL PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_del c.217_220 p.E73fs 1.000:1.000:1.000:1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 80 0 0.00 41 29 41.43 - - - RAD51B 0 genome.wustl.edu 37 14 68353784 68353784 + Missense_Mutation SNP G G C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 14 68353784 68353784 G C SNP RAD51B ENST00000487270 human ensembl 69_37n +1 known missense c.619 p.V207L 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC ENSG00000182185 59 0 0.00 68 25 26.88 - - - RB1 0 genome.wustl.edu 37 13 48954373 48954373 + Silent SNP T T C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 13 48954373 48954373 T C SNP RB1 ENST00000267163 human ensembl 69_37n +1 known silent c.1494 p.Y498 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 101 0 0.00 75 31 29.25 - - - RNF31 0 genome.wustl.edu 37 14 24619840 24619840 + Missense_Mutation SNP C C G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 14 24619840 24619840 C G SNP RNF31 ENST00000324103 human ensembl 69_37n +1 known missense c.1231 p.Q411E 0.269 smart_Znf_RanBP2 pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 88 0 0.00 55 25 31.25 - - - RPS6KB2 0 genome.wustl.edu 37 11 67200221 67200221 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 11 67200221 67200221 G A SNP RPS6KB2 ENST00000312629 human ensembl 69_37n +1 known missense c.529 p.E177K 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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom - no_errors RPS6KB2 HGNC ENSG00000175634 128 0 0.00 111 28 20.14 - - - RYR3 0 genome.wustl.edu 37 15 33954810 33954810 + Silent SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 15 33954810 33954810 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.5079 p.T1693 0.223 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 92 0 0.00 68 34 33.33 - - - SART1 0 genome.wustl.edu 37 11 65746121 65746121 + Missense_Mutation SNP G G T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 11 65746121 65746121 G T SNP SART1 ENST00000312397 human ensembl 69_37n +1 known missense c.2223 p.M741I 1.000 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 30 0 0.00 92 12 11.54 - - - SELP 0 genome.wustl.edu 37 1 169562905 169562905 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 1 169562905 169562905 G A SNP SELP ENST00000263686 human ensembl 69_37n -1 known missense c.2345 p.T782M 0.000 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 88 0 0.00 63 70 52.24 - - - SH3BP5 0 genome.wustl.edu 37 3 15300446 15300446 + Missense_Mutation SNP G G A TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 3 15300446 15300446 G A SNP SH3BP5 ENST00000383791 human ensembl 69_37n -1 known missense c.781 p.R261W 0.808 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5 HGNC ENSG00000131370 60 0 0.00 60 26 29.55 - - - SLC16A1 0 genome.wustl.edu 37 1 113471850 113471850 + Missense_Mutation SNP G G C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 1 113471850 113471850 G C SNP SLC16A1 ENST00000369626 human ensembl 69_37n -1 known missense c.81 p.F27L 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 28 0 0.00 17 13 43.33 - - - SLC7A3 0 genome.wustl.edu 37 X 70149574 70149574 + Missense_Mutation SNP G G T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 X 70149574 70149574 G T SNP SLC7A3 ENST00000298085 human ensembl 69_37n -1 known missense c.274 p.P92T 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 73 0 0.00 62 24 27.91 - - - SMARCA1 0 genome.wustl.edu 37 X 128650475 128650475 + Splice_Site SNP C C G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 X 128650475 128650475 C G SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known splice_site c.262-1 e3-1 1.000 - - - no_errors SMARCA1 HGNC ENSG00000102038 95 0 0.00 70 39 35.78 - - - SPAG9 0 genome.wustl.edu 37 17 49067939 49067939 + Missense_Mutation SNP T T C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 17 49067939 49067939 T C SNP SPAG9 ENST00000262013 human ensembl 69_37n -1 known missense c.2489 p.N830S 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 98 0 0.00 97 29 23.02 - - - SYTL3 0 genome.wustl.edu 37 6 159184541 159184541 + Missense_Mutation SNP A A C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 6 159184541 159184541 A C SNP SYTL3 ENST00000297239 human ensembl 69_37n +1 known missense c.1723 p.K575Q 0.996 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL3 HGNC ENSG00000164674 32 0 0.00 42 14 25.00 - - - TAOK3 0 genome.wustl.edu 37 12 118610295 118610295 + Silent SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 12 118610295 118610295 C T SNP TAOK3 ENST00000392533 human ensembl 69_37n -1 known silent c.1866 p.K622 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 TAOK3 HGNC ENSG00000135090 244 0 0.00 161 35 17.86 - - - THAP5 0 genome.wustl.edu 37 7 108204886 108204886 + Missense_Mutation SNP A A G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 7 108204886 108204886 A G SNP THAP5 ENST00000415914 human ensembl 69_37n -1 known missense c.937 p.Y313H 0.009 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 123 0 0.00 151 55 26.70 - - - TRAK2 0 genome.wustl.edu 37 2 202245814 202245814 + Missense_Mutation SNP T T C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 2 202245814 202245814 T C SNP TRAK2 ENST00000332624 human ensembl 69_37n -1 known missense c.2197 p.T733A 0.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 115 0 0.00 103 17 14.17 - - - TTC14 0 genome.wustl.edu 37 3 180328183 180328183 + Missense_Mutation SNP C C G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 3 180328183 180328183 C G SNP TTC14 ENST00000296015 human ensembl 69_37n +1 known missense c.2166 p.I722M 0.007 NULL pfam_TPR-1,superfamily_NA-bd_OB-fold-like,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 32 0 0.00 38 12 24.00 - - - TTN 0 genome.wustl.edu 37 2 179605501 179605501 + Missense_Mutation SNP C C G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 2 179605501 179605501 C G SNP TTN ENST00000342175 human ensembl 69_37n -1 known missense c.11946 p.Q3982H 0.141 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 76 0 0.00 85 17 16.67 - - - UROC1 0 genome.wustl.edu 37 3 126222869 126222869 + Missense_Mutation SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 3 126222869 126222869 C T SNP UROC1 ENST00000290868 human ensembl 69_37n -1 known missense c.871 p.D291N 0.998 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 80 0 0.00 65 33 33.67 - - - WDR87 0 genome.wustl.edu 37 19 38382389 38382389 + Missense_Mutation SNP G G C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 19 38382389 38382389 G C SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.3197 p.S1066C 0.003 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 80 0 0.00 61 32 34.41 - - - YME1L1 0 genome.wustl.edu 37 10 27437888 27437888 + Missense_Mutation SNP A A G TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 10 27437888 27437888 A G SNP YME1L1 ENST00000326799 human ensembl 69_37n -1 known missense c.115 p.S39P 0.062 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 79 0 0.00 106 43 28.86 - - - ZDHHC19 0 genome.wustl.edu 37 3 195925458 195925458 + Silent SNP A A C TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 3 195925458 195925458 A C SNP ZDHHC19 ENST00000397544 human ensembl 69_37n -1 known silent c.777 p.A259 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 8 0 0.00 12 12 50.00 - - - ZNF578 0 genome.wustl.edu 37 19 53014257 53014257 + Missense_Mutation SNP A A T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 19 53014257 53014257 A T SNP ZNF578 ENST00000421239 human ensembl 69_37n +1 known missense c.623 p.Y208F 0.493 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 ZNF578 HGNC ENSG00000258405 78 0 0.00 91 29 23.97 - - - ZNF619 0 genome.wustl.edu 37 3 40528668 40528668 + Nonsense_Mutation SNP C C T TCGA-E2-A1IH-01A-11D-A188-09 TCGA-E2-A1IH-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd886e35-4201-4732-90c6-142d8fe309b1 cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62 3 40528668 40528668 C T SNP ZNF619 ENST00000447116 human ensembl 69_37n +1 known nonsense c.787 p.Q263* 0.978 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 ZNF619 HGNC ENSG00000177873 34 0 0.00 25 17 40.48 - - -