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 ABCA7 0 genome.wustl.edu 37 19 1045035 1045035 + Nonsense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 1045035 1045035 C G SNP ABCA7 ENST00000263094 human ensembl 69_37n +1 known nonsense c.1250 p.S417* 0.003 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 46 0 0.00 8 10 55.56 - - - ACOT1 0 genome.wustl.edu 37 14 74004171 74004171 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 14 74004171 74004171 G A SNP ACOT1 ENST00000311148 human ensembl 69_37n +1 known missense c.46 p.D16N 1.000 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT1 HGNC ENSG00000184227 50 0 0.00 19 6 24.00 - - - ACSF2 0 genome.wustl.edu 37 17 48538641 48538641 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 48538641 48538641 C T SNP ACSF2 ENST00000300441 human ensembl 69_37n +1 known silent c.363 p.L121 0.135 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 66 0 0.00 31 28 47.46 - - - ADAMTS20 0 genome.wustl.edu 37 12 43896138 43896138 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 12 43896138 43896138 C T SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.684 p.M228I 0.001 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 143 0 0.00 83 46 35.66 - - - ADCY2 0 genome.wustl.edu 37 5 7709482 7709482 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 5 7709482 7709482 C T SNP ADCY2 ENST00000338316 human ensembl 69_37n +1 known silent c.1560 p.N520 0.962 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 65 0 0.00 77 26 25.24 - - - AGXT2L1 0 genome.wustl.edu 37 4 109669230 109669230 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 4 109669230 109669230 C G SNP AGXT2L1 ENST00000296486 human ensembl 69_37n -1 known missense c.1013 p.R338T 0.329 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L1 HGNC ENSG00000164089 218 0 0.00 141 26 15.57 - - - AKD1 0 genome.wustl.edu 37 6 109814642 109814642 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 6 109814642 109814642 C G SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known missense c.5666 p.R1889T 0.995 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 154 0 0.00 86 27 23.89 - - - AMZ2P1 0 genome.wustl.edu 37 17 62969020 62969020 + RNA SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 62969020 62969020 G T SNP AMZ2P1 ENST00000397713 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors AMZ2P1 HGNC ENSG00000214174 48 0 0.00 35 15 30.00 - - - ANKRD28 0 genome.wustl.edu 37 3 15727589 15727589 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 15727589 15727589 C T SNP ANKRD28 ENST00000383777 human ensembl 69_37n -1 known missense c.2098 p.D700N 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 167 0 0.00 89 87 49.43 - - - APBA3 0 genome.wustl.edu 37 19 3759707 3759707 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 3759707 3759707 C T SNP APBA3 ENST00000316757 human ensembl 69_37n -1 known missense c.556 p.E186K 0.059 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA3 HGNC ENSG00000011132 10 0 0.00 10 7 41.18 - - - APC2 0 genome.wustl.edu 37 19 1465771 1465771 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 1465771 1465771 G A SNP APC2 ENST00000233607 human ensembl 69_37n +1 known missense c.2471 p.R824Q 0.024 NULL pfam_APC_basic_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 16 0 0.00 5 4 44.44 - - - APOL6 0 genome.wustl.edu 37 22 36054859 36054859 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 22 36054859 36054859 C G SNP APOL6 ENST00000409652 human ensembl 69_37n +1 known missense c.248 p.S83C 0.365 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 139 0 0.00 63 10 13.70 - - - ATP9A 0 genome.wustl.edu 37 20 50286620 50286620 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 20 50286620 50286620 G C SNP ATP9A ENST00000338821 human ensembl 69_37n -1 known missense c.1209 p.F403L 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ENSG00000054793 113 0 0.00 192 35 15.35 - - - ATR 0 genome.wustl.edu 37 3 142266743 142266743 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 142266743 142266743 C T SNP ATR ENST00000350721 human ensembl 69_37n -1 known missense c.3181 p.E1061K 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 106 0 0.00 88 17 16.04 - - - BCAS4 0 genome.wustl.edu 37 20 49493134 49493134 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 20 49493134 49493134 C T SNP BCAS4 ENST00000371608 human ensembl 69_37n +1 known missense c.601 p.R201W 0.000 NULL NULL - no_errors BCAS4 HGNC ENSG00000124243 35 0 0.00 57 8 12.31 - - - BSDC1 0 genome.wustl.edu 37 1 32843862 32843862 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 32843862 32843862 G A SNP BSDC1 ENST00000341071 human ensembl 69_37n -1 known missense c.602 p.S201L 0.988 pfam_BSD,smart_BSD,pfscan_BSD pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 76 0 0.00 42 31 41.89 - - - C16orf5 0 genome.wustl.edu 37 16 4563801 4563801 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 16 4563801 4563801 G C SNP C16orf5 ENST00000399599 human ensembl 69_37n -1 known missense c.137 p.P46R 1.000 NULL pfam_LITAF,smart_LITAF - no_errors C16orf5 HGNC ENSG00000089486 39 0 0.00 24 16 40.00 - - - C1orf127 0 genome.wustl.edu 37 1 11008331 11008331 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 11008331 11008331 C G SNP C1orf127 ENST00000377004 human ensembl 69_37n -1 known missense c.1861 p.E621Q 0.002 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 34 0 0.00 16 10 38.46 - - - C1orf127 0 genome.wustl.edu 37 1 11008427 11008427 + Missense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 11008427 11008427 G T SNP C1orf127 ENST00000377004 human ensembl 69_37n -1 known missense c.1765 p.Q589K 0.005 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 29 0 0.00 11 10 47.62 - - - C3orf30 0 genome.wustl.edu 37 3 118865557 118865557 + Missense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 118865557 118865557 G T SNP C3orf30 ENST00000295622 human ensembl 69_37n +1 known missense c.521 p.G174V 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 39 0 0.00 24 8 25.00 - - - C9orf50 0 genome.wustl.edu 37 9 132382053 132382053 + Silent SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 132382053 132382053 G T SNP C9orf50 ENST00000372478 human ensembl 69_37n -1 known silent c.565 p.R189 0.003 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 164 0 0.00 93 53 36.30 - - - C9orf96 0 genome.wustl.edu 37 9 136270506 136270506 + Missense_Mutation SNP C C A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 136270506 136270506 C A SNP C9orf96 ENST00000371957 human ensembl 69_37n +1 known missense c.2004 p.S668R 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors C9orf96 HGNC ENSG00000198870 35 0 0.00 14 9 39.13 - - - CACNA1D 0 genome.wustl.edu 37 3 53531432 53531432 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 53531432 53531432 C G SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.321 p.F107L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 123 0 0.00 51 68 57.14 - - - CACNA1H 0 genome.wustl.edu 37 16 1256238 1256238 + Missense_Mutation SNP A A G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 16 1256238 1256238 A G SNP CACNA1H ENST00000348261 human ensembl 69_37n +1 known missense c.2738 p.D913G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 71 0 0.00 73 13 15.12 - - - CALHM2 0 genome.wustl.edu 37 10 105207136 105207136 + Frame_Shift_Del DEL G G - TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 105207136 105207136 G - DEL CALHM2 ENST00000260743 human ensembl 69_37n -1 known frame_shift_del c.745 p.R249fs 0.999 NULL NULL - no_errors CALHM2 HGNC ENSG00000138172 64 0 0.00 20 17 45.95 - - - CCDC155 0 genome.wustl.edu 37 19 49902741 49902741 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 49902741 49902741 G C SNP CCDC155 ENST00000447857 human ensembl 69_37n +1 known missense c.775 p.E259Q 0.853 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 145 0 0.00 98 38 27.74 - - - CD58 0 genome.wustl.edu 37 1 117078619 117078619 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 117078619 117078619 G A SNP CD58 ENST00000369489 human ensembl 69_37n -1 known missense c.596 p.S199L 0.001 NULL NULL - no_errors CD58 HGNC ENSG00000116815 172 0 0.00 71 30 29.70 - - - CEACAM16 0 genome.wustl.edu 37 19 45209092 45209092 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 45209092 45209092 C T SNP CEACAM16 ENST00000405314 human ensembl 69_37n +1 known silent c.894 p.T298 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM16 HGNC ENSG00000213892 97 0 0.00 87 26 22.81 - - - CELSR2 0 genome.wustl.edu 37 1 109793212 109793212 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 109793212 109793212 C T SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known missense c.511 p.R171W 0.997 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 63 0 0.00 25 25 50.00 - - - CERS3 0 genome.wustl.edu 37 15 100996101 100996101 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 15 100996101 100996101 C T SNP CERS3 ENST00000284382 human ensembl 69_37n -1 known missense c.996 p.M332I 0.003 pirsf_Longevity_assurance_LAG1_LAC1 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS3 HGNC ENSG00000154227 91 0 0.00 51 23 30.67 - - - CGN 0 genome.wustl.edu 37 1 151509297 151509297 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 151509297 151509297 G A SNP CGN ENST00000271636 human ensembl 69_37n +1 known missense c.3398 p.R1133H 0.999 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 163 0 0.00 88 139 60.96 - - - CHD3 0 genome.wustl.edu 37 17 7796626 7796626 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 7796626 7796626 C G SNP CHD3 ENST00000330494 human ensembl 69_37n +1 known missense c.532 p.P178A 1.000 pfam_CHD_N,superfamily_HMG_superfamily pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 49 0 0.00 60 29 32.58 - - - CIRBP 0 genome.wustl.edu 37 19 1272306 1272306 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 1272306 1272306 C G SNP CIRBP ENST00000444172 human ensembl 69_37n +1 known missense c.599 p.S200C 0.128 NULL NULL - no_errors CIRBP HGNC ENSG00000099622 36 0 0.00 34 11 24.44 - - - CNTN1 0 genome.wustl.edu 37 12 41419117 41419117 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 12 41419117 41419117 G C SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known missense c.2689 p.E897Q 0.957 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN1 HGNC ENSG00000018236 48 0 0.00 27 19 41.30 - - - COL7A1 0 genome.wustl.edu 37 3 48609475 48609475 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 48609475 48609475 C T SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known missense c.7027 p.E2343K 1.000 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 57 0 0.00 8 14 63.64 - - - COL9A3 0 genome.wustl.edu 37 20 61458148 61458148 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 20 61458148 61458148 G A SNP COL9A3 ENST00000343916 human ensembl 69_37n +1 known silent c.768 p.G256 0.876 NULL pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 36 0 0.00 28 10 25.64 - - - CRTC3 0 genome.wustl.edu 37 15 91136895 91136895 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 15 91136895 91136895 C T SNP CRTC3 ENST00000268184 human ensembl 69_37n +1 known missense c.259 p.R87W 0.765 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 91 0 0.00 30 18 35.29 - - - CSNK1A1 0 genome.wustl.edu 37 5 148885086 148885086 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 5 148885086 148885086 G C SNP CSNK1A1 ENST00000503350 human ensembl 69_37n -1 putative missense c.422 p.P141R 1.000 NULL pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSNK1A1 HGNC ENSG00000113712 202 0 0.00 153 82 34.75 - - - CTNNA3 0 genome.wustl.edu 37 10 67862936 67862936 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 67862936 67862936 C G SNP CTNNA3 ENST00000373744 human ensembl 69_37n -1 known missense c.1956 p.Q652H 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 110 0 0.00 56 38 40.43 - - - DAP 0 genome.wustl.edu 37 5 10681199 10681199 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 5 10681199 10681199 C G SNP DAP ENST00000230895 human ensembl 69_37n -1 known missense c.278 p.R93T 0.001 NULL NULL - no_errors DAP HGNC ENSG00000112977 161 0 0.00 74 93 55.36 - - - DCAF12L2 0 genome.wustl.edu 37 X 125298870 125298870 + Silent SNP A A T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 X 125298870 125298870 A T SNP DCAF12L2 ENST00000360028 human ensembl 69_37n -1 known silent c.1038 p.S346 0.471 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 21 0 0.00 6 4 40.00 - - - DCST2 0 genome.wustl.edu 37 1 154991075 154991075 + Nonsense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 154991075 154991075 G C SNP DCST2 ENST00000368424 human ensembl 69_37n -1 known nonsense c.2267 p.S756* 0.767 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 87 0 0.00 174 29 14.22 - - - DCUN1D5 0 genome.wustl.edu 37 11 102935019 102935019 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 11 102935019 102935019 C T SNP DCUN1D5 ENST00000260247 human ensembl 69_37n -1 known missense c.643 p.D215N 1.000 pfam_PONY_dom pfam_PONY_dom - no_errors DCUN1D5 HGNC ENSG00000137692 159 1 0.62 95 26 21.49 - - - DDX31 0 genome.wustl.edu 37 9 135513749 135513749 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 135513749 135513749 C T SNP DDX31 ENST00000310532 human ensembl 69_37n -1 known silent c.1757 p.*586 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 104 0 0.00 60 32 34.78 - - - DDX59 0 genome.wustl.edu 37 1 200635322 200635322 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 200635322 200635322 C G SNP DDX59 ENST00000331314 human ensembl 69_37n -1 known missense c.547 p.E183Q 0.482 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 75 0 0.00 86 69 44.52 - - - DEGS2 0 genome.wustl.edu 37 14 100625894 100625894 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 14 100625894 100625894 C G SNP DEGS2 ENST00000305631 human ensembl 69_37n -1 known missense c.31 p.E11Q 1.000 pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC ENSG00000168350 20 0 0.00 8 5 38.46 - - - DEPDC5 0 genome.wustl.edu 37 22 32180825 32180825 + Silent SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 22 32180825 32180825 G T SNP DEPDC5 ENST00000266091 human ensembl 69_37n +1 known silent c.588 p.V196 1.000 pfam_DUF3608 pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 272 1 0.37 109 85 43.81 - - - DLG4 0 genome.wustl.edu 37 17 7100285 7100285 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 7100285 7100285 G A SNP DLG4 ENST00000293813 human ensembl 69_37n -1 known missense c.1003 p.R335W 1.000 pfam_PDZ_assoc,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG4 HGNC ENSG00000132535 50 0 0.00 10 13 56.52 - - - DNAH2 0 genome.wustl.edu 37 17 7736442 7736442 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 7736442 7736442 G C SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.13032 p.K4344N 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 70 0 0.00 39 26 40.00 - - - DNAH5 0 genome.wustl.edu 37 5 13769169 13769169 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 5 13769169 13769169 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.9797 p.A3266V 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 199 0 0.00 145 129 46.57 - - - DNASE1L3 0 genome.wustl.edu 37 3 58190568 58190568 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 58190568 58190568 C G SNP DNASE1L3 ENST00000318316 human ensembl 69_37n -1 known missense c.361 p.D121H 0.983 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L3 HGNC ENSG00000163687 126 0 0.00 44 32 42.11 - - - DSP 0 genome.wustl.edu 37 6 7580958 7580958 + Missense_Mutation SNP A A C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 6 7580958 7580958 A C SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.4535 p.Y1512S 0.998 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 61 0 0.00 59 10 14.49 - - - DTX3 0 genome.wustl.edu 37 12 58002372 58002372 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 12 58002372 58002372 G A SNP DTX3 ENST00000551632 human ensembl 69_37n +1 known missense c.829 p.E277K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 50 0 0.00 31 12 27.91 - - - DUOX1 0 genome.wustl.edu 37 15 45454016 45454016 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 15 45454016 45454016 C G SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known missense c.3937 p.L1313V 1.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 80 0 0.00 29 23 44.23 - - - ENSG00000258472 0 genome.wustl.edu 37 17 26912942 26912942 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 26912942 26912942 G A SNP ENSG00000258472 ENST00000584206 human ensembl 69_37n -1 novel missense c.299 p.S100L 0.996 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RP11-192H23.4 Clone_based_vega_gene ENSG00000258472 145 0 0.00 70 49 41.18 - - - FAM108B1 0 genome.wustl.edu 37 9 74489592 74489592 + Silent SNP C C A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 74489592 74489592 C A SNP FAM108B1 ENST00000377041 human ensembl 69_37n -1 known silent c.405 p.G135 0.997 pfam_Dienelactn_hydro pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors FAM108B1 HGNC ENSG00000107362 54 0 0.00 26 22 45.83 - - - FAM114A1 0 genome.wustl.edu 37 4 38907253 38907253 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 4 38907253 38907253 G A SNP FAM114A1 ENST00000358869 human ensembl 69_37n +1 known missense c.547 p.E183K 0.000 pfam_DUF719 pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 67 0 0.00 40 22 35.48 - - - FAM124B 0 genome.wustl.edu 37 2 225244906 225244906 + Missense_Mutation SNP A A C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 2 225244906 225244906 A C SNP FAM124B ENST00000409685 human ensembl 69_37n -1 known missense c.752 p.L251R 0.000 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 32 0 0.00 30 9 23.08 - - - FAM208B 0 genome.wustl.edu 37 10 5788925 5788925 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 5788925 5788925 C G SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known missense c.3541 p.Q1181E 0.258 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 52 0 0.00 36 14 27.45 - - - FAM5B 0 genome.wustl.edu 37 1 177250316 177250316 + Missense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 177250316 177250316 G T SNP FAM5B ENST00000361539 human ensembl 69_37n +1 known missense c.2004 p.M668I 0.990 NULL pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC ENSG00000198797 35 0 0.00 36 13 26.00 - - - FAM75D1 0 genome.wustl.edu 37 9 84605770 84605770 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 84605770 84605770 G A SNP FAM75D1 ENST00000344803 human ensembl 69_37n +1 known missense c.385 p.V129I 0.223 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 286 0 0.00 217 48 18.05 - - - FASN 0 genome.wustl.edu 37 17 80038680 80038680 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 80038680 80038680 C G SNP FASN ENST00000306749 human ensembl 69_37n -1 known missense c.6714 p.Q2238H 1.000 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 51 0 0.00 18 9 33.33 - - - FAT3 0 genome.wustl.edu 37 11 92568091 92568091 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 11 92568091 92568091 G A SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known silent c.9927 p.L3309 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 46 0 0.00 18 13 41.94 - - - FBN1 0 genome.wustl.edu 37 15 48787352 48787352 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 15 48787352 48787352 G A SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.2645 p.A882V 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_Fibrillin 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 78 0 0.00 35 21 37.50 - - - FBXL5 0 genome.wustl.edu 37 4 15638232 15638232 + Nonsense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 4 15638232 15638232 G A SNP FBXL5 ENST00000513163 human ensembl 69_37n -1 novel nonsense c.412 p.Q138* 1.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FBXL5 HGNC ENSG00000118564 100 0 0.00 74 40 35.09 - - - FCGR3A 0 genome.wustl.edu 37 1 161518251 161518251 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 161518251 161518251 G C SNP FCGR3A ENST00000426740 human ensembl 69_37n -1 known missense c.329 p.S110C 0.255 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FCGR3A HGNC ENSG00000203747 256 0 0.00 422 55 11.46 - - - FOXP2 0 genome.wustl.edu 37 7 114066652 114066652 + Missense_Mutation SNP C C A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 7 114066652 114066652 C A SNP FOXP2 ENST00000408937 human ensembl 69_37n +1 known missense c.86 p.A29D 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 62 0 0.00 30 17 36.17 - - - GCC2 0 genome.wustl.edu 37 2 109102990 109102990 + Silent SNP A A G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 2 109102990 109102990 A G SNP GCC2 ENST00000309863 human ensembl 69_37n +1 known silent c.3816 p.S1272 0.574 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 96 0 0.00 36 26 41.94 - - - GNL3L 0 genome.wustl.edu 37 X 54586952 54586952 + Splice_Site SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 X 54586952 54586952 G A SNP GNL3L ENST00000336470 human ensembl 69_37n +1 known splice_site c.1667-1 e15-1 1.000 - - - no_errors GNL3L HGNC ENSG00000130119 221 0 0.00 141 45 24.06 - - - GPR113 0 genome.wustl.edu 37 2 26534505 26534505 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 2 26534505 26534505 G A SNP GPR113 ENST00000333478 human ensembl 69_37n -1 known silent c.1494 p.F498 0.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 82 0 0.00 30 6 16.67 - - - GPT 0 genome.wustl.edu 37 8 145730656 145730656 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 145730656 145730656 G A SNP GPT ENST00000394955 human ensembl 69_37n +1 known missense c.523 p.E175K 0.335 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors GPT HGNC ENSG00000167701 20 0 0.00 14 7 33.33 - - - HELQ 0 genome.wustl.edu 37 4 84361040 84361040 + Missense_Mutation SNP T T C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 4 84361040 84361040 T C SNP HELQ ENST00000295488 human ensembl 69_37n -1 known missense c.1784 p.E595G 1.000 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 57 0 0.00 49 12 19.67 - - - HEMK1 0 genome.wustl.edu 37 3 50608618 50608618 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 50608618 50608618 C T SNP HEMK1 ENST00000232854 human ensembl 69_37n +1 known missense c.83 p.S28L 0.905 NULL pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK - no_errors HEMK1 HGNC ENSG00000114735 53 0 0.00 20 15 42.86 - - - HIRIP3 0 genome.wustl.edu 37 16 30004965 30004965 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 16 30004965 30004965 C T SNP HIRIP3 ENST00000279392 human ensembl 69_37n -1 known missense c.1404 p.M468I 1.000 NULL pfam_Histone_chaperone_domain_CHZ - no_errors HIRIP3 HGNC ENSG00000149929 65 0 0.00 50 41 45.05 - - - HOXB9 0 genome.wustl.edu 37 17 46703217 46703217 + Frame_Shift_Del DEL C C - TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 46703217 46703217 C - DEL HOXB9 ENST00000311177 human ensembl 69_37n -1 known frame_shift_del c.415 p.E139fs 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB9 HGNC ENSG00000170689 70 0 0.00 32 8 20.00 - - - IDH3B 0 genome.wustl.edu 37 20 2640352 2640352 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 20 2640352 2640352 G C SNP IDH3B ENST00000380843 human ensembl 69_37n -1 known missense c.1003 p.H335D 0.998 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3B HGNC ENSG00000101365 96 0 0.00 94 12 11.21 - - - IFNA17 0 genome.wustl.edu 37 9 21228028 21228028 + Missense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 21228028 21228028 G T SNP IFNA17 ENST00000413767 human ensembl 69_37n -1 known missense c.145 p.P49T 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA17 HGNC ENSG00000234829 110 0 0.00 106 19 15.08 - - - IFNA2 0 genome.wustl.edu 37 9 21384861 21384861 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 21384861 21384861 C T SNP IFNA2 ENST00000380206 human ensembl 69_37n -1 known silent c.468 p.K156 0.011 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA2 HGNC ENSG00000188379 163 0 0.00 119 52 30.41 - - - ITGAM 0 genome.wustl.edu 37 16 31336602 31336602 + Silent SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 16 31336602 31336602 G T SNP ITGAM ENST00000544665 human ensembl 69_37n +1 known silent c.2385 p.V795 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 96 0 0.00 58 34 36.96 - - - KCMF1 0 genome.wustl.edu 37 2 85280380 85280380 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 2 85280380 85280380 G A SNP KCMF1 ENST00000409785 human ensembl 69_37n +1 known missense c.994 p.E332K 1.000 NULL pfam_Znf_ZZ,pfam_Di19_RING_finger_144,smart_Znf_ZZ,smart_Znf_C2H2-like,pfscan_Znf_ZZ,pfscan_Znf_C2H2 - no_errors KCMF1 HGNC ENSG00000176407 39 0 0.00 31 11 26.19 - - - KIAA1107 0 genome.wustl.edu 37 1 92649701 92649701 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 92649701 92649701 G C SNP KIAA1107 ENST00000409154 human ensembl 69_37n +1 known missense c.4044 p.Q1348H 1.000 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 54 0 0.00 25 15 37.50 - - - KRT79 0 genome.wustl.edu 37 12 53225306 53225306 + Silent SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 12 53225306 53225306 G C SNP KRT79 ENST00000330553 human ensembl 69_37n -1 known silent c.582 p.L194 1.000 pfam_F,superfamily_STAT_TF_coiled-coil pfam_F,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 105 0 0.00 48 33 40.74 - - - KTN1 0 genome.wustl.edu 37 14 56107112 56107112 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 14 56107112 56107112 C T SNP KTN1 ENST00000395309 human ensembl 69_37n +1 known silent c.1935 p.F645 0.999 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 125 0 0.00 84 38 31.15 - - - LAMA3 0 genome.wustl.edu 37 18 21417017 21417017 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 18 21417017 21417017 C T SNP LAMA3 ENST00000313654 human ensembl 69_37n +1 known silent c.3057 p.D1019 0.037 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 156 0 0.00 75 125 62.50 - - - LETM2 0 genome.wustl.edu 37 8 38258464 38258464 + Nonsense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 38258464 38258464 C T SNP LETM2 ENST00000379957 human ensembl 69_37n +1 known nonsense c.877 p.Q293* 1.000 pfam_LETM1 pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 83 0 0.00 86 32 27.12 - - - LGI2 0 genome.wustl.edu 37 4 25005818 25005818 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 4 25005818 25005818 C G SNP LGI2 ENST00000382114 human ensembl 69_37n -1 known missense c.893 p.G298A 1.000 pfam_EPTP pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 52 0 0.00 36 15 29.41 - - - LHX5 0 genome.wustl.edu 37 12 113906151 113906151 + Missense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 12 113906151 113906151 G T SNP LHX5 ENST00000261731 human ensembl 69_37n -1 known missense c.456 p.D152E 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX5 HGNC ENSG00000089116 141 0 0.00 72 44 37.93 - - - LLPH 0 genome.wustl.edu 37 12 66522788 66522788 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 12 66522788 66522788 G A SNP LLPH ENST00000266604 human ensembl 69_37n -1 known silent c.99 p.L33 0.998 pfam_LAPS18-like pfam_LAPS18-like - no_errors LLPH HGNC ENSG00000139233 176 0 0.00 117 50 29.94 - - - LRCH3 0 genome.wustl.edu 37 3 197574833 197574833 + Nonsense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 197574833 197574833 G T SNP LRCH3 ENST00000438796 human ensembl 69_37n +1 known nonsense c.1471 p.E491* 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 85 0 0.00 32 38 54.29 - - - LRRC27 0 genome.wustl.edu 37 10 134161507 134161507 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 134161507 134161507 G C SNP LRRC27 ENST00000368613 human ensembl 69_37n +1 known missense c.573 p.E191D 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 35 0 0.00 6 4 40.00 - - - LY6K 0 genome.wustl.edu 37 8 143784680 143784680 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 143784680 143784680 C T SNP LY6K ENST00000561179 human ensembl 69_37n +1 known missense c.563 p.S188L 0.000 NULL NULL - no_errors LY6K HGNC ENSG00000160886 175 0 0.00 168 54 24.32 - - - MAPT 0 genome.wustl.edu 37 17 44067416 44067416 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 44067416 44067416 C G SNP MAPT ENST00000344290 human ensembl 69_37n +1 known missense c.1355 p.S452C 1.000 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC ENSG00000186868 116 0 0.00 48 23 31.51 - - - MKL2 0 genome.wustl.edu 37 16 14339391 14339391 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 16 14339391 14339391 C T SNP MKL2 ENST00000341243 human ensembl 69_37n +1 known silent c.1053 p.L351 0.862 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 69 0 0.00 61 58 48.74 - - - MOSPD2 0 genome.wustl.edu 37 X 14915213 14915213 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 X 14915213 14915213 C G SNP MOSPD2 ENST00000380492 human ensembl 69_37n +1 known missense c.330 p.I110M 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_Major_sperm,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_Major_sperm - no_errors MOSPD2 HGNC ENSG00000130150 99 0 0.00 80 29 26.61 - - - MPO 0 genome.wustl.edu 37 17 56356465 56356465 + Silent SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 56356465 56356465 G C SNP MPO ENST00000340482 human ensembl 69_37n -1 known silent c.885 p.L295 0.222 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 76 0 0.00 35 18 33.96 - - - MSH5 0 genome.wustl.edu 37 6 31730243 31730243 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 6 31730243 31730243 C T SNP MSH5 ENST00000375742 human ensembl 69_37n +1 known missense c.2491 p.P831S 0.997 NULL pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 116 0 0.00 70 13 15.66 - - - MTOR 0 genome.wustl.edu 37 1 11270881 11270881 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 11270881 11270881 C G SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.3644 p.R1215T 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 76 0 0.00 43 12 21.82 - - - MYH2 0 genome.wustl.edu 37 17 10447097 10447097 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 10447097 10447097 G A SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known silent c.672 p.I224 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 129 0 0.00 49 49 50.00 - - - MYO9A 0 genome.wustl.edu 37 15 72180453 72180453 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 15 72180453 72180453 G A SNP MYO9A ENST00000424560 human ensembl 69_37n -1 known missense c.5360 p.S1787L 0.947 NULL 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 MYO9A HGNC ENSG00000066933 122 0 0.00 73 37 33.64 - - - NEB 0 genome.wustl.edu 37 2 152541307 152541307 + Silent SNP A A G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 2 152541307 152541307 A G SNP NEB ENST00000397345 human ensembl 69_37n -1 known silent c.2820 p.Y940 0.993 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 89 0 0.00 55 15 21.43 - - - NHSL1 0 genome.wustl.edu 37 6 138754770 138754770 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 6 138754770 138754770 G C SNP NHSL1 ENST00000427025 human ensembl 69_37n -1 known missense c.724 p.P242A 1.000 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 57 0 0.00 28 20 41.67 - - - NRAS 0 genome.wustl.edu 37 1 115251203 115251203 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 115251203 115251203 C T SNP NRAS ENST00000369535 human ensembl 69_37n -1 known missense c.523 p.D175N 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC ENSG00000213281 330 0 0.00 205 90 30.51 - - - NUCB1 0 genome.wustl.edu 37 19 49424449 49424449 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 49424449 49424449 G A SNP NUCB1 ENST00000263273 human ensembl 69_37n +1 known silent c.1041 p.L347 0.991 NULL pfscan_EF_HAND_2 - no_errors NUCB1 HGNC ENSG00000104805 24 0 0.00 12 6 31.58 - - - ODZ1 0 genome.wustl.edu 37 X 123539030 123539030 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 X 123539030 123539030 C T SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.5242 p.E1748K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 110 1 0.90 37 38 50.00 - - - OR10A6 0 genome.wustl.edu 37 11 7949551 7949551 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 11 7949551 7949551 C G SNP OR10A6 ENST00000309838 human ensembl 69_37n -1 known missense c.659 p.R220P 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 75 0 0.00 32 32 50.00 - - - OR9G1 0 genome.wustl.edu 37 11 56468331 56468331 + Silent SNP A A C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 11 56468331 56468331 A C SNP OR9G1 ENST00000312153 human ensembl 69_37n +1 known silent c.468 p.S156 0.000 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 OR9G1 HGNC ENSG00000174914 230 0 0.00 144 25 14.79 - - - PCDHA3 0 genome.wustl.edu 37 5 140180926 140180926 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 5 140180926 140180926 C G SNP PCDHA3 ENST00000522353 human ensembl 69_37n +1 known missense c.144 p.I48M 0.993 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 70 0 0.00 46 30 39.47 - - - PCNXL2 0 genome.wustl.edu 37 1 233161098 233161098 + Nonsense_Mutation SNP C C A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 233161098 233161098 C A SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known nonsense c.4399 p.E1467* 1.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 127 0 0.00 106 53 33.12 - - - PDE6C 0 genome.wustl.edu 37 10 95415556 95415556 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 95415556 95415556 G C SNP PDE6C ENST00000371447 human ensembl 69_37n +1 known missense c.1975 p.E659Q 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 123 0 0.00 85 15 15.00 - - - PFKP 0 genome.wustl.edu 37 10 3149487 3149487 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 3149487 3149487 G A SNP PFKP ENST00000381125 human ensembl 69_37n +1 known missense c.856 p.E286K 0.995 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 105 0 0.00 42 17 28.81 - - - PGLYRP3 0 genome.wustl.edu 37 1 153283097 153283097 + Silent SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 153283097 153283097 G C SNP PGLYRP3 ENST00000290722 human ensembl 69_37n -1 known silent c.45 p.L15 0.000 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 84 0 0.00 98 11 10.09 - - - PGM5 0 genome.wustl.edu 37 9 71002421 71002421 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 71002421 71002421 G A SNP PGM5 ENST00000396396 human ensembl 69_37n +1 known missense c.614 p.R205Q 0.995 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 168 0 0.00 92 37 28.68 - - - PHF6 0 genome.wustl.edu 37 X 133547523 133547523 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 X 133547523 133547523 G A SNP PHF6 ENST00000394292 human ensembl 69_37n +1 known missense c.424 p.D142N 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF6 HGNC ENSG00000156531 96 0 0.00 36 30 45.45 - - - PIGR 0 genome.wustl.edu 37 1 207106470 207106470 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 207106470 207106470 C G SNP PIGR ENST00000356495 human ensembl 69_37n -1 known missense c.1747 p.D583H 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PIGR HGNC ENSG00000162896 131 0 0.00 77 54 41.22 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 92 0 0.00 49 41 45.56 - - - PIK3CA 0 genome.wustl.edu 37 3 178947827 178947827 + Missense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 178947827 178947827 G T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2702 p.C901F 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 128 0 0.00 92 14 13.21 - - - PIK3CG 0 genome.wustl.edu 37 7 106509345 106509345 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 7 106509345 106509345 G A SNP PIK3CG ENST00000359195 human ensembl 69_37n +1 known missense c.1339 p.A447T 0.027 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 50 0 0.00 27 23 46.00 - - - PKDREJ 0 genome.wustl.edu 37 22 46656331 46656331 + Silent SNP A A T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 22 46656331 46656331 A T SNP PKDREJ ENST00000253255 human ensembl 69_37n -1 known silent c.2889 p.A963 0.001 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 52 0 0.00 18 19 50.00 - - - PLEKHF2 0 genome.wustl.edu 37 8 96166542 96166542 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 96166542 96166542 C G SNP PLEKHF2 ENST00000315367 human ensembl 69_37n +1 known missense c.270 p.I90M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF2 HGNC ENSG00000175895 50 0 0.00 50 11 18.03 - - - PLXNA4 0 genome.wustl.edu 37 7 132192988 132192988 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 7 132192988 132192988 C G SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known missense c.465 p.K155N 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 67 0 0.00 34 17 33.33 - - - POLN 0 genome.wustl.edu 37 4 2210055 2210055 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 4 2210055 2210055 C G SNP POLN ENST00000382865 human ensembl 69_37n -1 known missense c.373 p.E125Q 0.139 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 106 0 0.00 44 21 32.31 - - - POLR2A 0 genome.wustl.edu 37 17 7404270 7404270 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 7404270 7404270 G A SNP POLR2A ENST00000322644 human ensembl 69_37n +1 known silent c.1893 p.E631 1.000 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 260 0 0.00 239 119 33.24 - - - POM121C 0 genome.wustl.edu 37 7 75070302 75070302 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 7 75070302 75070302 C G SNP POM121C ENST00000257665 human ensembl 69_37n -1 known missense c.883 p.E295Q 1.000 NULL NULL - no_errors POM121C HGNC ENSG00000135213 314 0 0.00 226 131 36.59 - - - PPEF2 0 genome.wustl.edu 37 4 76805791 76805791 + Missense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 4 76805791 76805791 G T SNP PPEF2 ENST00000286719 human ensembl 69_37n -1 known missense c.702 p.F234L 0.999 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_HAND_2 - no_errors PPEF2 HGNC ENSG00000156194 98 0 0.00 59 19 24.36 - - - PPFIA2 0 genome.wustl.edu 37 12 82147853 82147853 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 12 82147853 82147853 G A SNP PPFIA2 ENST00000549396 human ensembl 69_37n -1 known missense c.148 p.R50W 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 95 0 0.00 36 22 37.93 - - - PPP4R4 0 genome.wustl.edu 37 14 94718190 94718190 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 14 94718190 94718190 C G SNP PPP4R4 ENST00000304338 human ensembl 69_37n +1 known missense c.1822 p.L608V 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 71 0 0.00 25 13 33.33 - - - PRCC 0 genome.wustl.edu 37 1 156737729 156737729 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 156737729 156737729 C G SNP PRCC ENST00000271526 human ensembl 69_37n +1 known missense c.166 p.Q56E 1.000 NULL pfam_PRCC_C - no_errors PRCC HGNC ENSG00000143294 13 0 0.00 10 4 28.57 - - - PRDM11 0 genome.wustl.edu 37 11 45203410 45203410 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 11 45203410 45203410 C T SNP PRDM11 ENST00000263765 human ensembl 69_37n +1 known silent c.195 p.L65 0.546 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 45 0 0.00 22 15 40.54 - - - PRICKLE2 0 genome.wustl.edu 37 3 64133158 64133158 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 64133158 64133158 G A SNP PRICKLE2 ENST00000295902 human ensembl 69_37n -1 known silent c.1008 p.R336 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 133 0 0.00 45 55 55.00 - - - PRKG1 0 genome.wustl.edu 37 10 53227489 53227489 + Missense_Mutation SNP A A T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 53227489 53227489 A T SNP PRKG1 ENST00000373980 human ensembl 69_37n +1 known missense c.485 p.K162M 1.000 pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKG1 HGNC ENSG00000185532 156 0 0.00 72 35 32.71 - - - PSAP 0 genome.wustl.edu 37 10 73579279 73579279 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 73579279 73579279 C T SNP PSAP ENST00000373120 human ensembl 69_37n -1 known silent c.1293 p.E431 0.998 pirsf_Saposin_chordata,pfam_SapB_1,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 128 0 0.00 60 32 34.78 - - - PTCHD1 0 genome.wustl.edu 37 X 23397794 23397794 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 X 23397794 23397794 G C SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known missense c.438 p.K146N 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 64 0 0.00 71 18 20.22 - - - PTGER3 0 genome.wustl.edu 37 1 71512883 71512883 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 71512883 71512883 C T SNP PTGER3 ENST00000354608 human ensembl 69_37n -1 known silent c.378 p.S126 0.933 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP3_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 27 0 0.00 13 11 45.83 - - - PTPRC 0 genome.wustl.edu 37 1 198691597 198691597 + Nonsense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 198691597 198691597 C G SNP PTPRC ENST00000367376 human ensembl 69_37n +1 known nonsense c.1712 p.S571* 0.982 pirsf_Leukocyte_common_ag,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 74 0 0.00 68 17 20.00 - - - RAVER2 0 genome.wustl.edu 37 1 65243506 65243506 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 65243506 65243506 C T SNP RAVER2 ENST00000294428 human ensembl 69_37n +1 known silent c.517 p.L173 0.984 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 139 0 0.00 72 39 35.14 - - - RFXANK 0 genome.wustl.edu 37 19 19312527 19312527 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 19312527 19312527 G A SNP RFXANK ENST00000303088 human ensembl 69_37n +1 known silent c.782 p.*261 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 56 0 0.00 21 8 27.59 - - - RIOK1 0 genome.wustl.edu 37 6 7405582 7405582 + Silent SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 6 7405582 7405582 C G SNP RIOK1 ENST00000379834 human ensembl 69_37n +1 known silent c.1197 p.L399 0.389 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 89 0 0.00 36 13 26.53 - - - RTEL1 0 genome.wustl.edu 37 20 62293270 62293270 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 20 62293270 62293270 C T SNP RTEL1 ENST00000318100 human ensembl 69_37n +1 known silent c.369 p.I123 0.053 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 141 0 0.00 173 43 19.82 - - - RTN4 0 genome.wustl.edu 37 2 55253275 55253275 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 2 55253275 55253275 C T SNP RTN4 ENST00000337526 human ensembl 69_37n -1 known missense c.1960 p.E654K 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 18 0 0.00 6 6 50.00 - - - S1PR3 0 genome.wustl.edu 37 9 91616635 91616635 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 91616635 91616635 C T SNP S1PR3 ENST00000358157 human ensembl 69_37n +1 known silent c.520 p.L174 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG3_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 120 0 0.00 80 53 39.85 - - - SCAF1 0 genome.wustl.edu 37 19 50161137 50161137 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 50161137 50161137 C T SNP SCAF1 ENST00000360565 human ensembl 69_37n +1 known silent c.3738 p.A1246 0.621 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 51 0 0.00 39 49 54.44 - - - SCN5A 0 genome.wustl.edu 37 3 38645493 38645493 + Missense_Mutation SNP T T A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 38645493 38645493 T A SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known missense c.1600 p.R534W 0.341 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 69 0 0.00 42 17 28.33 - - - SCN5A 0 genome.wustl.edu 37 3 38645494 38645494 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 38645494 38645494 G A SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known silent c.1599 p.R533 0.328 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 68 0 0.00 43 18 29.51 - - - SDK1 0 genome.wustl.edu 37 7 4213862 4213862 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 7 4213862 4213862 G A SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known silent c.4809 p.R1603 0.975 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 54 0 0.00 28 10 26.32 - - - SEMA7A 0 genome.wustl.edu 37 15 74704309 74704309 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 15 74704309 74704309 G A SNP SEMA7A ENST00000261918 human ensembl 69_37n -1 known missense c.1339 p.H447Y 0.006 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA7A HGNC ENSG00000138623 54 0 0.00 19 6 24.00 - - - SENP8 0 genome.wustl.edu 37 15 72432133 72432133 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 15 72432133 72432133 G A SNP SENP8 ENST00000340912 human ensembl 69_37n +1 known missense c.169 p.E57K 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP8 HGNC ENSG00000166192 39 0 0.00 33 20 37.74 - - - SERPINC1 0 genome.wustl.edu 37 1 173884020 173884020 + Missense_Mutation SNP A A G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 173884020 173884020 A G SNP SERPINC1 ENST00000367698 human ensembl 69_37n -1 known missense c.79 p.W27R 1.000 NULL pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINC1 HGNC ENSG00000117601 86 0 0.00 73 9 10.98 - - - SGK2 0 genome.wustl.edu 37 20 42204933 42204933 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 20 42204933 42204933 G A SNP SGK2 ENST00000341458 human ensembl 69_37n +1 known missense c.943 p.G315R 0.933 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_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK2 HGNC ENSG00000101049 86 0 0.00 57 22 27.85 - - - SLC12A5 0 genome.wustl.edu 37 20 44684870 44684870 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 20 44684870 44684870 G A SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.2938 p.E980K 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 84 0 0.00 92 16 14.81 - - - SLC15A5 0 genome.wustl.edu 37 12 16430536 16430536 + Missense_Mutation SNP A A C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 12 16430536 16430536 A C SNP SLC15A5 ENST00000344941 human ensembl 69_37n -1 novel missense c.84 p.I28M 0.000 NULL pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 98 0 0.00 52 23 30.67 - - - SLC25A38 0 genome.wustl.edu 37 3 39425264 39425264 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 3 39425264 39425264 G A SNP SLC25A38 ENST00000273158 human ensembl 69_37n +1 known missense c.49 p.D17N 0.991 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC ENSG00000144659 83 0 0.00 20 28 58.33 - - - SLC28A3 0 genome.wustl.edu 37 9 86900304 86900304 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 86900304 86900304 C G SNP SLC28A3 ENST00000376238 human ensembl 69_37n -1 known missense c.1603 p.E535Q 0.933 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC ENSG00000197506 126 0 0.00 59 38 39.18 - - - SLC37A4 0 genome.wustl.edu 37 11 118895783 118895783 + RNA SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 11 118895783 118895783 C G SNP SLC37A4 ENST00000330775 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SLC37A4 HGNC ENSG00000137700 47 0 0.00 11 7 38.89 - - - SLU7 0 genome.wustl.edu 37 5 159842203 159842203 + Nonsense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 5 159842203 159842203 C T SNP SLU7 ENST00000297151 human ensembl 69_37n -1 known nonsense c.99 p.W33* 1.000 NULL pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 213 0 0.00 164 163 49.85 - - - SP110 0 genome.wustl.edu 37 2 231077589 231077589 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 2 231077589 231077589 C T SNP SP110 ENST00000258381 human ensembl 69_37n -1 known missense c.470 p.S157N 0.000 NULL pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 165 0 0.00 151 20 11.70 - - - SPAG5 0 genome.wustl.edu 37 17 26918847 26918847 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 26918847 26918847 C G SNP SPAG5 ENST00000321765 human ensembl 69_37n -1 known missense c.1306 p.D436H 1.000 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 104 0 0.00 24 24 50.00 - - - SPATA21 0 genome.wustl.edu 37 1 16736350 16736350 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 16736350 16736350 C G SNP SPATA21 ENST00000335496 human ensembl 69_37n -1 known missense c.333 p.Q111H 0.075 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors SPATA21 HGNC ENSG00000187144 46 0 0.00 26 12 31.58 - - - ST18 0 genome.wustl.edu 37 8 53038649 53038649 + Silent SNP A A T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 53038649 53038649 A T SNP ST18 ENST00000276480 human ensembl 69_37n -1 known silent c.2718 p.S906 0.496 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 196 1 0.51 192 26 11.82 - - - STAC3 0 genome.wustl.edu 37 12 57637603 57637603 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 12 57637603 57637603 C G SNP STAC3 ENST00000332782 human ensembl 69_37n -1 known missense c.1087 p.E363Q 1.000 pfam_SH3_2,smart_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC3 HGNC ENSG00000185482 46 0 0.00 27 12 30.00 - - - STK4 0 genome.wustl.edu 37 20 43615911 43615911 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 20 43615911 43615911 G A SNP STK4 ENST00000372806 human ensembl 69_37n +1 known missense c.499 p.D167N 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,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 85 0 0.00 64 50 43.86 - - - SUPT5H 0 genome.wustl.edu 37 19 39955656 39955656 + Silent SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 39955656 39955656 C G SNP SUPT5H ENST00000359191 human ensembl 69_37n +1 known silent c.843 p.L281 1.000 smart_KOW,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 37 0 0.00 21 12 36.36 - - - SVEP1 0 genome.wustl.edu 37 9 113265399 113265399 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 113265399 113265399 C T SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.1402 p.E468K 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 172 0 0.00 88 43 32.82 - - - SYNJ1 0 genome.wustl.edu 37 21 34012090 34012090 + Splice_Site SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 21 34012090 34012090 C G SNP SYNJ1 ENST00000433931 human ensembl 69_37n -1 known splice_site c.3706-1 e30-1 0.996 - - - no_errors SYNJ1 HGNC ENSG00000159082 93 0 0.00 46 35 43.21 - - - SYT12 0 genome.wustl.edu 37 11 66807366 66807366 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 11 66807366 66807366 G C SNP SYT12 ENST00000393946 human ensembl 69_37n +1 known missense c.313 p.E105Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT12 HGNC ENSG00000173227 37 0 0.00 23 12 34.29 - - - TBC1D2B 0 genome.wustl.edu 37 15 78305373 78305373 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 15 78305373 78305373 C T SNP TBC1D2B ENST00000300584 human ensembl 69_37n -1 known missense c.2062 p.E688K 0.050 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 117 0 0.00 69 45 39.47 - - - TDRD9 0 genome.wustl.edu 37 14 104506621 104506621 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 14 104506621 104506621 G A SNP TDRD9 ENST00000409874 human ensembl 69_37n +1 known missense c.3805 p.D1269N 0.998 NULL pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 109 0 0.00 76 40 34.48 - - - TET1 0 genome.wustl.edu 37 10 70450589 70450589 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 70450589 70450589 C G SNP TET1 ENST00000373644 human ensembl 69_37n +1 known missense c.5429 p.P1810R 0.984 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 70 0 0.00 41 11 21.15 - - - TG 0 genome.wustl.edu 37 8 133913623 133913623 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 133913623 133913623 G C SNP TG ENST00000220616 human ensembl 69_37n +1 known missense c.3459 p.K1153N 0.020 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 64 0 0.00 44 14 24.14 - - - TNFRSF11B 0 genome.wustl.edu 37 8 119941001 119941001 + Missense_Mutation SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 119941001 119941001 C T SNP TNFRSF11B ENST00000297350 human ensembl 69_37n -1 known missense c.568 p.E190K 0.844 pirsf_TNFR_11B pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 142 0 0.00 180 110 37.93 - - - TP53 0 genome.wustl.edu 37 17 7578460 7578460 + Missense_Mutation SNP A A C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 17 7578460 7578460 A C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.470 p.V157G 0.906 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 65 0 0.00 13 24 63.16 - - - UBE2D2 0 genome.wustl.edu 37 5 138980017 138980017 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 5 138980017 138980017 G A SNP UBE2D2 ENST00000398733 human ensembl 69_37n +1 known missense c.85 p.D29N 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D2 HGNC ENSG00000131508 133 0 0.00 75 50 40.00 - - - UBE2V2 0 genome.wustl.edu 37 8 48962528 48962528 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 48962528 48962528 C G SNP UBE2V2 ENST00000523111 human ensembl 69_37n +1 known missense c.281 p.S94C 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2V2 HGNC ENSG00000169139 67 0 0.00 49 23 31.94 - - - UBE4B 0 genome.wustl.edu 37 1 10166258 10166258 + Silent SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 1 10166258 10166258 C G SNP UBE4B ENST00000343090 human ensembl 69_37n +1 known silent c.813 p.L271 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 62 0 0.00 23 8 25.81 - - - URB1 0 genome.wustl.edu 37 21 33709732 33709732 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 21 33709732 33709732 G A SNP URB1 ENST00000382751 human ensembl 69_37n -1 known silent c.4602 p.G1534 0.025 NULL pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 40 0 0.00 28 15 34.88 - - - USP49 0 genome.wustl.edu 37 6 41774547 41774547 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 6 41774547 41774547 C G SNP USP49 ENST00000373009 human ensembl 69_37n -1 known missense c.175 p.E59Q 0.996 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP49 HGNC ENSG00000164663 64 0 0.00 34 5 12.82 - - - UVSSA 0 genome.wustl.edu 37 4 1348587 1348587 + Silent SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 4 1348587 1348587 C G SNP UVSSA ENST00000389851 human ensembl 69_37n +1 known silent c.999 p.L333 0.998 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 49 0 0.00 32 18 36.00 - - - VAV2 0 genome.wustl.edu 37 9 136661557 136661557 + Silent SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 136661557 136661557 G C SNP VAV2 ENST00000371850 human ensembl 69_37n -1 known silent c.1026 p.L342 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 60 0 0.00 44 15 25.42 - - - VKORC1 0 genome.wustl.edu 37 16 31105925 31105925 + Silent SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 16 31105925 31105925 G C SNP VKORC1 ENST00000394975 human ensembl 69_37n -1 known silent c.126 p.L42 1.000 pfam_VKOR,smart_VKOR pfam_VKOR,smart_VKOR - no_errors VKORC1 HGNC ENSG00000167397 10 0 0.00 4 6 60.00 - - - WDR11 0 genome.wustl.edu 37 10 122622406 122622406 + Missense_Mutation SNP A A G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 10 122622406 122622406 A G SNP WDR11 ENST00000263461 human ensembl 69_37n +1 known missense c.686 p.K229R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 74 0 0.00 33 28 45.90 - - - WDR35 0 genome.wustl.edu 37 2 20113974 20113974 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 2 20113974 20113974 G A SNP WDR35 ENST00000345530 human ensembl 69_37n -1 known silent c.3219 p.L1073 0.996 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 107 0 0.00 61 18 22.78 - - - ZBTB22 0 genome.wustl.edu 37 6 33283626 33283626 + Silent SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 6 33283626 33283626 G A SNP ZBTB22 ENST00000418724 human ensembl 69_37n -1 known silent c.1068 p.L356 0.972 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 45 0 0.00 26 9 25.71 - - - ZC2HC1A 0 genome.wustl.edu 37 8 79629583 79629583 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 79629583 79629583 C G SNP ZC2HC1A ENST00000263849 human ensembl 69_37n +1 known missense c.833 p.S278C 0.964 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 111 0 0.00 126 55 30.39 - - - ZDHHC5 0 genome.wustl.edu 37 11 57457520 57457520 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 11 57457520 57457520 C T SNP ZDHHC5 ENST00000287169 human ensembl 69_37n +1 known silent c.402 p.C134 1.000 pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 84 0 0.00 37 19 33.93 - - - ZMIZ2 0 genome.wustl.edu 37 7 44802875 44802875 + Missense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 7 44802875 44802875 G T SNP ZMIZ2 ENST00000309315 human ensembl 69_37n +1 known missense c.1723 p.G575C 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 57 0 0.00 49 7 12.50 - - - ZNF169 0 genome.wustl.edu 37 9 97062379 97062379 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 97062379 97062379 G C SNP ZNF169 ENST00000395395 human ensembl 69_37n +1 known missense c.539 p.R180T 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 ZNF169 HGNC ENSG00000175787 44 0 0.00 20 9 31.03 - - - ZNF235 0 genome.wustl.edu 37 19 44791480 44791480 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 44791480 44791480 C G SNP ZNF235 ENST00000291182 human ensembl 69_37n -1 known missense c.2108 p.R703T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF235 HGNC ENSG00000159917 146 0 0.00 133 44 24.86 - - - ZNF252P 0 genome.wustl.edu 37 8 146202132 146202132 + RNA SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 146202132 146202132 C G SNP ZNF252P ENST00000426361 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZNF252P HGNC ENSG00000196922 21 0 0.00 58 12 17.14 - - - ZNF396 0 genome.wustl.edu 37 18 32949307 32949307 + Missense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 18 32949307 32949307 G C SNP ZNF396 ENST00000589332 human ensembl 69_37n -1 known missense c.880 p.L294V 0.977 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF396 HGNC ENSG00000186496 89 0 0.00 14 27 65.85 - - - ZNF432 0 genome.wustl.edu 37 19 52537854 52537854 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 52537854 52537854 C G SNP ZNF432 ENST00000221315 human ensembl 69_37n -1 known missense c.1078 p.V360L 0.019 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 ZNF432 HGNC ENSG00000256087 74 0 0.00 98 30 23.44 - - - ZNF462 0 genome.wustl.edu 37 9 109773294 109773294 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 9 109773294 109773294 G A SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known missense c.7684 p.E2562K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 57 0 0.00 35 14 28.57 - - - ZNF536 0 genome.wustl.edu 37 19 31039733 31039733 + Silent SNP C C T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 19 31039733 31039733 C T SNP ZNF536 ENST00000355537 human ensembl 69_37n +1 known silent c.3207 p.I1069 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 52 0 0.00 25 29 53.70 - - - ZNF572 0 genome.wustl.edu 37 8 125988660 125988660 + Missense_Mutation SNP A A T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 8 125988660 125988660 A T SNP ZNF572 ENST00000319286 human ensembl 69_37n +1 known missense c.150 p.K50N 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 39 0 0.00 33 8 19.51 - - - ZNF629 0 genome.wustl.edu 37 16 30793337 30793337 + Nonsense_Mutation SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 16 30793337 30793337 G C SNP ZNF629 ENST00000262525 human ensembl 69_37n -1 known nonsense c.2312 p.S771* 0.978 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 38 0 0.00 34 21 37.50 - - - ZNF876P 0 genome.wustl.edu 37 4 247396 247396 + RNA SNP G G C TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e85559f-098e-4b0f-8034-4798789e710b 8dd6fca4-007f-45de-a569-bfb899254977 4 247396 247396 G C SNP ZNF876P ENST00000356347 human ensembl 69_37n +1 known rna NULL NULL 0.010 - - - no_errors ZNF876P HGNC ENSG00000198155 18 0 0.00 15 14 48.28 - - -