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 ABCC5 0 genome.wustl.edu 37 3 183669317 183669317 + Missense_Mutation SNP G G C TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 3 183669317 183669317 G C SNP ABCC5 ENST00000334444 human ensembl 69_37n -1 known missense c.2856 p.F952L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 110 0 0.00 96 20 17.24 - - - ABCC9 0 genome.wustl.edu 37 12 22025600 22025600 + Silent SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 12 22025600 22025600 G A SNP ABCC9 ENST00000261200 human ensembl 69_37n -1 known silent c.2157 p.L719 0.074 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 228 1 0.44 196 45 18.60 - - - ADAMTS7 0 genome.wustl.edu 37 15 79067106 79067106 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 15 79067106 79067106 C T SNP ADAMTS7 ENST00000388820 human ensembl 69_37n -1 known missense c.1736 p.G579D 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 109 0 0.00 69 9 11.54 - - - ANO2 0 genome.wustl.edu 37 12 5848498 5848498 + Silent SNP G G T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 12 5848498 5848498 G T SNP ANO2 ENST00000356134 human ensembl 69_37n -1 known silent c.1410 p.G470 0.295 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 241 0 0.00 205 51 19.92 - - - ARHGEF2 0 genome.wustl.edu 37 1 155922540 155922540 + Silent SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 155922540 155922540 G A SNP ARHGEF2 ENST00000368315 human ensembl 69_37n -1 known silent c.1866 p.F622 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 112 0 0.00 42 79 65.29 - - - BBS9 0 genome.wustl.edu 37 7 33407456 33407456 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 7 33407456 33407456 C T SNP BBS9 ENST00000242067 human ensembl 69_37n +1 known missense c.1771 p.L591F 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 515 0 0.00 478 112 18.95 - - - BROX 0 genome.wustl.edu 37 1 222903003 222903003 + Missense_Mutation SNP A A T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 222903003 222903003 A T SNP BROX ENST00000340934 human ensembl 69_37n +1 known missense c.798 p.K266N 0.979 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 184 0 0.00 124 158 56.03 - - - BRSK1 0 genome.wustl.edu 37 19 55820015 55820015 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 19 55820015 55820015 C T SNP BRSK1 ENST00000590333 human ensembl 69_37n +1 known missense c.2146 p.R716C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors BRSK1 HGNC ENSG00000160469 55 0 0.00 44 10 18.52 - - - C12orf44 0 genome.wustl.edu 37 12 52470890 52470890 + Missense_Mutation SNP G G T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 12 52470890 52470890 G T SNP C12orf44 ENST00000336854 human ensembl 69_37n +1 known missense c.573 p.K191N 1.000 NULL pfam_ATG101 - no_errors C12orf44 HGNC ENSG00000123395 73 0 0.00 41 11 20.75 - - - CD300E 0 genome.wustl.edu 37 17 72613390 72613390 + Silent SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 17 72613390 72613390 G A SNP CD300E ENST00000426295 human ensembl 69_37n -1 known silent c.378 p.L126 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300E HGNC ENSG00000186407 155 0 0.00 103 68 39.31 - - - CDH4 0 genome.wustl.edu 37 20 59829897 59829897 + Missense_Mutation SNP C C G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 20 59829897 59829897 C G SNP CDH4 ENST00000360469 human ensembl 69_37n +1 known missense c.73 p.L25V 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC ENSG00000179242 183 0 0.00 259 96 27.04 - - - CENPB 0 genome.wustl.edu 37 20 3765588 3765588 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 20 3765588 3765588 C T SNP CENPB ENST00000379751 human ensembl 69_37n -1 known missense c.1543 p.E515K 1.000 pfam_Centromere_CenpB_dimerisation pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 296 1 0.34 246 47 16.04 - - - DBX2 0 genome.wustl.edu 37 12 45444337 45444337 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 12 45444337 45444337 C T SNP DBX2 ENST00000332700 human ensembl 69_37n -1 known missense c.374 p.R125Q 0.829 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 17 0 0.00 6 5 45.45 - - - DDRGK1 0 genome.wustl.edu 37 20 3184039 3184039 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 20 3184039 3184039 C T SNP DDRGK1 ENST00000354488 human ensembl 69_37n -1 known missense c.115 p.E39K 0.610 NULL pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC ENSG00000198171 13 0 0.00 13 9 40.91 - - - DUSP22 0 genome.wustl.edu 37 6 348862 348862 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 6 348862 348862 C T SNP DUSP22 ENST00000419235 human ensembl 69_37n +1 known missense c.341 p.A114V 0.557 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DUSP22 HGNC ENSG00000112679 115 0 0.00 91 16 14.81 - - - EEFSEC 0 genome.wustl.edu 37 3 127983621 127983621 + Silent SNP C C A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 3 127983621 127983621 C A SNP EEFSEC ENST00000254730 human ensembl 69_37n +1 known silent c.783 p.L261 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_ProtSyn_GTP-bd - no_errors EEFSEC HGNC ENSG00000132394 118 0 0.00 49 77 61.11 - - - EHMT1 0 genome.wustl.edu 37 9 140729293 140729293 + Missense_Mutation SNP A A G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 9 140729293 140729293 A G SNP EHMT1 ENST00000460843 human ensembl 69_37n +1 known missense c.3785 p.K1262R 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 28 0 0.00 10 10 50.00 - - - EIF2B5 0 genome.wustl.edu 37 3 183855975 183855975 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 3 183855975 183855975 G A SNP EIF2B5 ENST00000273783 human ensembl 69_37n +1 known missense c.706 p.D236N 0.995 NULL pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 289 0 0.00 255 48 15.79 - - - ELFN2 0 genome.wustl.edu 37 22 37771355 37771355 + Missense_Mutation SNP A A G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 22 37771355 37771355 A G SNP ELFN2 ENST00000349653 human ensembl 69_37n -1 known missense c.220 p.S74P 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor - no_errors ELFN2 HGNC ENSG00000166897 461 0 0.00 219 75 25.51 - - - ENSG00000249034 0 genome.wustl.edu 37 5 140242934 140242934 + Silent SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 5 140242934 140242934 G A SNP ENSG00000249034 ENST00000502505 human ensembl 69_37n -1 known silent c.42 p.V14 0.001 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 29 0 0.00 26 4 13.33 - - - ERCC3 0 genome.wustl.edu 37 2 128046289 128046289 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 128046289 128046289 C T SNP ERCC3 ENST00000285398 human ensembl 69_37n -1 known missense c.974 p.R325Q 1.000 pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,tigrfam_XPGB_DNA_repair pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair - no_errors ERCC3 HGNC ENSG00000163161 156 0 0.00 115 19 14.18 - - - FAM124B 0 genome.wustl.edu 37 2 225266233 225266233 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 225266233 225266233 C T SNP FAM124B ENST00000409685 human ensembl 69_37n -1 known missense c.253 p.V85I 0.002 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 74 0 0.00 76 19 20.00 - - - FAM205A 0 genome.wustl.edu 37 9 34723403 34723403 + Silent SNP A A G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 9 34723403 34723403 A G SNP FAM205A ENST00000378788 human ensembl 69_37n -1 novel silent c.3834 p.R1278 0.000 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 137 0 0.00 111 14 11.20 - - - FAM47C 0 genome.wustl.edu 37 X 37028635 37028635 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa X 37028635 37028635 C T SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.2152 p.P718S 0.004 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 141 0 0.00 106 23 17.69 - - - GLI3 0 genome.wustl.edu 37 7 42064883 42064883 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 7 42064883 42064883 G A SNP GLI3 ENST00000395925 human ensembl 69_37n -1 known missense c.1336 p.P446S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 153 0 0.00 78 25 24.27 - - - GOLGA2P5 0 genome.wustl.edu 37 12 100562921 100562921 + RNA DEL T T - TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 12 100562921 100562921 T - DEL GOLGA2P5 ENST00000421840 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2P5 HGNC ENSG00000238105 42 0 0.00 23 5 17.86 - - - HFM1 0 genome.wustl.edu 37 1 91859834 91859834 + Missense_Mutation SNP G G C TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 91859834 91859834 G C SNP HFM1 ENST00000370425 human ensembl 69_37n -1 known missense c.310 p.L104V 0.003 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 305 0 0.00 428 139 24.43 - - - HNRNPH2 0 genome.wustl.edu 37 X 100668219 100668219 + Missense_Mutation SNP C C A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa X 100668219 100668219 C A SNP HNRNPH2 ENST00000316594 human ensembl 69_37n +1 known missense c.1243 p.Q415K 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC ENSG00000126945 383 1 0.26 250 82 24.70 - - - HNRNPL 0 genome.wustl.edu 37 19 39329199 39329199 + Nonsense_Mutation SNP G G T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 19 39329199 39329199 G T SNP HNRNPL ENST00000221419 human ensembl 69_37n -1 known nonsense c.1395 p.Y465* 0.938 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 211 0 0.00 99 42 29.79 - - - HP1BP3 0 genome.wustl.edu 37 1 21076220 21076220 + Silent SNP A A G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 21076220 21076220 A G SNP HP1BP3 ENST00000312239 human ensembl 69_37n -1 known silent c.1137 p.Y379 0.974 pfam_Histone_H1/H5,smart_Histone_H1/H5 pfam_Histone_H1/H5,smart_Histone_H1/H5 - no_errors HP1BP3 HGNC ENSG00000127483 183 1 0.54 82 86 51.19 - - - HSPG2 0 genome.wustl.edu 37 1 22156504 22156504 + Missense_Mutation SNP C C A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 22156504 22156504 C A SNP HSPG2 ENST00000374695 human ensembl 69_37n -1 known missense c.11752 p.G3918W 0.994 smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 35 0 0.00 32 13 28.89 - - - IFT122 0 genome.wustl.edu 37 3 129200411 129200411 + Silent SNP C C G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 3 129200411 129200411 C G SNP IFT122 ENST00000296266 human ensembl 69_37n +1 known silent c.1680 p.V560 1.000 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 IFT122 HGNC ENSG00000163913 290 2 0.68 112 145 56.42 - - - IKBKE 0 genome.wustl.edu 37 1 206649567 206649567 + Silent SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 206649567 206649567 C T SNP IKBKE ENST00000367120 human ensembl 69_37n +1 known silent c.402 p.R134 0.004 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IKBKE HGNC ENSG00000143466 79 0 0.00 51 12 19.05 - - - INTS4L2 0 genome.wustl.edu 37 7 65157715 65157715 + RNA SNP C C A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 7 65157715 65157715 C A SNP INTS4L2 ENST00000430126 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors INTS4L2 HGNC ENSG00000232270 231 1 0.43 433 105 19.52 - - - IWS1 0 genome.wustl.edu 37 2 128260411 128260411 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 128260411 128260411 C T SNP IWS1 ENST00000295321 human ensembl 69_37n -1 known missense c.1447 p.E483K 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 404 0 0.00 462 104 18.37 - - - IYD 0 genome.wustl.edu 37 6 150715289 150715289 + Silent SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 6 150715289 150715289 C T SNP IYD ENST00000229447 human ensembl 69_37n +1 known silent c.585 p.F195 1.000 pfam_Nitroreductase-like,superfamily_Nitroreductase-like pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 147 0 0.00 145 43 22.87 - - - JAKMIP3 0 genome.wustl.edu 37 10 133967268 133967268 + Silent SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 10 133967268 133967268 C T SNP JAKMIP3 ENST00000298622 human ensembl 69_37n +1 known silent c.2073 p.L691 0.736 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 57 0 0.00 48 14 22.58 - - - KCNS3 0 genome.wustl.edu 37 2 18112646 18112646 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 18112646 18112646 G A SNP KCNS3 ENST00000304101 human ensembl 69_37n +1 known missense c.371 p.R124H 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv2 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 157 0 0.00 118 31 20.67 - - - KIAA0586 0 genome.wustl.edu 37 14 58910712 58910715 + Frame_Shift_Del DEL AATT AATT - TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 AATT AATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 14 58910712 58910715 AATT - DEL KIAA0586 ENST00000556134 human ensembl 69_37n +1 known frame_shift_del c.581_584 p.E194fs 1.000:1.000:1.000:1.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 104 0 0.00 89 19 17.59 - - - KIAA1328 0 genome.wustl.edu 37 18 34465536 34465536 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 18 34465536 34465536 G A SNP KIAA1328 ENST00000280020 human ensembl 69_37n +1 known missense c.349 p.E117K 1.000 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 165 0 0.00 154 36 18.95 - - - KMO 0 genome.wustl.edu 37 1 241750005 241750005 + Missense_Mutation SNP G G C TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 241750005 241750005 G C SNP KMO ENST00000366559 human ensembl 69_37n +1 known missense c.982 p.D328H 1.000 NULL pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 216 0 0.00 318 65 16.93 - - - LTA 0 genome.wustl.edu 37 6 31541102 31541102 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 6 31541102 31541102 G A SNP LTA ENST00000418386 human ensembl 69_37n +1 known missense c.250 p.D84N 0.176 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c - no_errors LTA HGNC ENSG00000226979 128 0 0.00 66 19 22.35 - - - MAS1L 0 genome.wustl.edu 37 6 29454744 29454744 + Silent SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 6 29454744 29454744 G A SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known silent c.936 p.I312 0.748 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 183 0 0.00 102 33 24.44 - - - MAS1L 0 genome.wustl.edu 37 6 29455332 29455332 + Silent SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 6 29455332 29455332 G A SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known silent c.348 p.V116 0.002 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 89 0 0.00 51 16 23.88 - - - MBD6 0 genome.wustl.edu 37 12 57919306 57919306 + Silent SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 12 57919306 57919306 C T SNP MBD6 ENST00000355673 human ensembl 69_37n +1 known silent c.555 p.F185 0.998 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 94 0 0.00 28 20 41.67 - - - MBOAT4 0 genome.wustl.edu 37 8 29989859 29989859 + Nonsense_Mutation SNP G G C TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 8 29989859 29989859 G C SNP MBOAT4 ENST00000320542 human ensembl 69_37n -1 known nonsense c.908 p.S303* 0.124 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT4 HGNC ENSG00000177669 235 0 0.00 144 35 19.44 - - - MCM7 0 genome.wustl.edu 37 7 99695338 99695338 + Nonsense_Mutation SNP G G T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 7 99695338 99695338 G T SNP MCM7 ENST00000303887 human ensembl 69_37n -1 known nonsense c.1016 p.S339* 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 490 0 0.00 427 122 22.18 - - - MFAP3L 0 genome.wustl.edu 37 4 170912621 170912621 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 4 170912621 170912621 C T SNP MFAP3L ENST00000361618 human ensembl 69_37n -1 known missense c.1138 p.D380N 0.046 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3L HGNC ENSG00000198948 283 0 0.00 152 42 21.65 - - - MRPS31P3 0 genome.wustl.edu 37 13 52854827 52854827 + RNA SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 13 52854827 52854827 G A SNP MRPS31P3 ENST00000422308 human ensembl 69_37n -1 known rna NULL NULL 0.260 - - - no_errors RP11-64P12.8 Clone_based_vega_gene ENSG00000217576 122 0 0.00 67 15 18.29 - - - NMUR1 0 genome.wustl.edu 37 2 232392911 232392911 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 232392911 232392911 G A SNP NMUR1 ENST00000305141 human ensembl 69_37n -1 known missense c.821 p.S274F 0.007 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NeuromedU_rcpt_1,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors NMUR1 HGNC ENSG00000171596 36 0 0.00 12 7 36.84 - - - NPSR1 0 genome.wustl.edu 37 7 34724283 34724283 + Missense_Mutation SNP G G T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 7 34724283 34724283 G T SNP NPSR1 ENST00000381539 human ensembl 69_37n +1 known missense c.267 p.Q89H 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Vasoprsn_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC ENSG00000187258 321 0 0.00 288 63 17.95 - - - OR4K2 0 genome.wustl.edu 37 14 20344474 20344474 + Silent SNP G G T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 14 20344474 20344474 G T SNP OR4K2 ENST00000298642 human ensembl 69_37n +1 known silent c.48 p.G16 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4K2 HGNC ENSG00000165762 401 0 0.00 513 158 23.55 - - - OR8J1 0 genome.wustl.edu 37 11 56127893 56127893 + Silent SNP C C A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 11 56127893 56127893 C A SNP OR8J1 ENST00000303039 human ensembl 69_37n +1 known silent c.171 p.T57 0.525 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8J1 HGNC ENSG00000172487 353 1 0.28 401 58 12.64 - - - OXER1 0 genome.wustl.edu 37 2 42990664 42990664 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 42990664 42990664 C T SNP OXER1 ENST00000378661 human ensembl 69_37n -1 known missense c.656 p.G219D 0.006 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 31 0 0.00 19 9 32.14 - - - PABPC1L 0 genome.wustl.edu 37 20 43538932 43538932 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 20 43538932 43538932 C T SNP PABPC1L ENST00000217073 human ensembl 69_37n +1 known missense c.148 p.R50C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 23 0 0.00 22 5 18.52 - - - PCDHGA2 0 genome.wustl.edu 37 5 140720243 140720243 + Missense_Mutation SNP A A G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 5 140720243 140720243 A G SNP PCDHGA2 ENST00000394576 human ensembl 69_37n +1 known missense c.1705 p.T569A 0.999 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 96 0 0.00 29 23 44.23 - - - PIAS2 0 genome.wustl.edu 37 18 44400931 44400931 + Missense_Mutation SNP T T C TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 18 44400931 44400931 T C SNP PIAS2 ENST00000585916 human ensembl 69_37n -1 known missense c.1613 p.H538R 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS2 HGNC ENSG00000078043 363 2 0.55 286 74 20.56 - - - PIEZO2 0 genome.wustl.edu 37 18 10696087 10696087 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 18 10696087 10696087 G A SNP PIEZO2 ENST00000538948 human ensembl 69_37n -1 known missense c.707 p.P236L 1.000 NULL pfam_DUF3595 - no_errors PIEZO2 HGNC ENSG00000154864 116 1 0.85 95 21 18.10 - - - PLXNA4 0 genome.wustl.edu 37 7 131982906 131982906 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 7 131982906 131982906 G A SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known missense c.1447 p.R483W 0.989 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 88 0 0.00 54 32 37.21 - - - POTEF 0 genome.wustl.edu 37 2 130868152 130868155 + Frame_Shift_Del DEL GTCT GTCT - TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 GTCT GTCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 130868152 130868155 GTCT - DEL POTEF ENST00000357462 human ensembl 69_37n -1 known frame_shift_del c.1019_1016 p.Q339fs 0.018:0.018:0.015:0.007 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEF HGNC ENSG00000196604 174 0 0.00 122 17 12.23 - - - PRMT5 0 genome.wustl.edu 37 14 23397820 23397820 + Missense_Mutation SNP C C G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 14 23397820 23397820 C G SNP PRMT5 ENST00000324366 human ensembl 69_37n -1 known missense c.115 p.D39H 1.000 pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 120 0 0.00 143 53 27.04 - - - PTPRM 0 genome.wustl.edu 37 18 8387170 8387170 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 18 8387170 8387170 G A SNP PTPRM ENST00000400060 human ensembl 69_37n +1 known missense c.4148 p.R1383H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 192 0 0.00 131 71 35.15 - - - RNF103 0 genome.wustl.edu 37 2 86831287 86831287 + Silent SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 86831287 86831287 G A SNP RNF103 ENST00000237455 human ensembl 69_37n -1 known silent c.1737 p.A579 0.997 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 216 0 0.00 165 39 19.12 - - - RNF170 0 genome.wustl.edu 37 8 42711536 42711536 + Silent SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 8 42711536 42711536 C T SNP RNF170 ENST00000527424 human ensembl 69_37n -1 known silent c.543 p.L181 1.000 NULL pfam_DUF1232,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF170 HGNC ENSG00000120925 210 0 0.00 274 113 29.20 - - - SAMD4A 0 genome.wustl.edu 37 14 55251057 55251057 + Splice_Site SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 14 55251057 55251057 G A SNP SAMD4A ENST00000553988 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.043 - - - no_errors SAMD4A HGNC ENSG00000020577 266 0 0.00 167 48 22.22 - - - SLC5A9 0 genome.wustl.edu 37 1 48696327 48696327 + Missense_Mutation SNP A A G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 48696327 48696327 A G SNP SLC5A9 ENST00000236495 human ensembl 69_37n +1 known missense c.635 p.Y212C 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 174 0 0.00 128 56 29.95 - - - SMPD3 0 genome.wustl.edu 37 16 68404767 68404767 + Missense_Mutation SNP G G T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 16 68404767 68404767 G T SNP SMPD3 ENST00000219334 human ensembl 69_37n -1 known missense c.1318 p.L440I 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 98 0 0.00 105 18 14.63 - - - STIL 0 genome.wustl.edu 37 1 47728698 47728698 + Silent SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 47728698 47728698 C T SNP STIL ENST00000371877 human ensembl 69_37n -1 known silent c.2706 p.Q902 0.220 NULL NULL - no_errors STIL HGNC ENSG00000123473 356 0 0.00 477 78 14.05 - - - TBC1D9 0 genome.wustl.edu 37 4 141578724 141578724 + Silent SNP A A G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 4 141578724 141578724 A G SNP TBC1D9 ENST00000442267 human ensembl 69_37n -1 known silent c.2164 p.L722 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 248 0 0.00 179 43 19.37 - - - TP53 0 genome.wustl.edu 37 17 7578461 7578461 + Missense_Mutation SNP C C A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 17 7578461 7578461 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.469 p.V157F 0.032 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 84 0 0.00 32 35 52.24 - - - TTN 0 genome.wustl.edu 37 2 179456809 179456809 + Missense_Mutation SNP A A C TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 179456809 179456809 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.52118 p.L17373R 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 180 0 0.00 171 35 16.99 - - - TTN 0 genome.wustl.edu 37 2 179476280 179476280 + Silent SNP A A G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 179476280 179476280 A G SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.42972 p.C14324 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 157 0 0.00 155 30 16.13 - - - UBR5 0 genome.wustl.edu 37 8 103284901 103284901 + Missense_Mutation SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 8 103284901 103284901 C T SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.6829 p.V2277I 1.000 superfamily_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 185 0 0.00 138 39 22.03 - - - UBXN11 0 genome.wustl.edu 37 1 26608929 26608929 + Missense_Mutation SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 1 26608929 26608929 G A SNP UBXN11 ENST00000374221 human ensembl 69_37n -1 known missense c.1424 p.P475L 0.003 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 43 0 0.00 40 6 13.04 - - - VIP 0 genome.wustl.edu 37 6 153077328 153077328 + Missense_Mutation SNP A A T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 6 153077328 153077328 A T SNP VIP ENST00000367244 human ensembl 69_37n +1 known missense c.395 p.D132V 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 103 0 0.00 182 38 17.27 - - - WDR76 0 genome.wustl.edu 37 15 44119242 44119242 + Silent SNP G G T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 15 44119242 44119242 G T SNP WDR76 ENST00000263795 human ensembl 69_37n +1 known silent c.12 p.S4 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 44 0 0.00 32 7 17.95 - - - WDR93 0 genome.wustl.edu 37 15 90276247 90276248 + Frame_Shift_Ins INS - - G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 15 90276247 90276248 - G INS WDR93 ENST00000268130 human ensembl 69_37n +1 known frame_shift_ins c.1341_1342 p.V448fs 0.705:0.975 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 128 0 0.00 171 29 14.50 - - - YLPM1 0 genome.wustl.edu 37 14 75248571 75248571 + Missense_Mutation SNP T T C TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 14 75248571 75248571 T C SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.1825 p.S609P 0.397 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 291 0 0.00 152 91 37.30 - - - ZCCHC6 0 genome.wustl.edu 37 9 88920155 88920155 + Splice_Site SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 9 88920155 88920155 C T SNP ZCCHC6 ENST00000375963 human ensembl 69_37n -1 known splice_site c.3839-1 e22-1 1.000 - - - no_errors ZCCHC6 HGNC ENSG00000083223 182 0 0.00 184 99 34.98 - - - ZDBF2 0 genome.wustl.edu 37 2 207175720 207175720 + Silent SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 2 207175720 207175720 C T SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known silent c.6468 p.V2156 0.005 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 51 0 0.00 53 11 17.19 - - - ZDHHC4 0 genome.wustl.edu 37 7 6621256 6621256 + Missense_Mutation SNP C C G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 7 6621256 6621256 C G SNP ZDHHC4 ENST00000335965 human ensembl 69_37n +1 known missense c.136 p.P46A 0.972 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC4 HGNC ENSG00000136247 423 0 0.00 233 328 58.47 - - - ZNF733P 0 genome.wustl.edu 37 7 62752198 62752198 + RNA SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35a96eee-113b-45cb-a999-81c13545b104 ddf38d71-5acf-4b09-9796-d26fa1089daa 7 62752198 62752198 G A SNP ZNF733P ENST00000331425 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 114 0 0.00 117 43 26.88 - - -