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 ABCC3 0 genome.wustl.edu 37 17 48755286 48755286 + Missense_Mutation SNP C C G TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 17 48755286 48755286 C G SNP ABCC3 ENST00000285238 human ensembl 69_37n +1 known missense c.3560 p.P1187R 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 30 0 0.00 27 6 18.18 - - - ABCC9 0 genome.wustl.edu 37 12 22086768 22086768 + Missense_Mutation SNP C C T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 12 22086768 22086768 C T SNP ABCC9 ENST00000261200 human ensembl 69_37n -1 known missense c.232 p.A78T 0.993 NULL 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 61 0 0.00 44 29 39.73 - - - ANK2 0 genome.wustl.edu 37 4 114257194 114257194 + Missense_Mutation SNP G G A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 4 114257194 114257194 G A SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.3572 p.R1191Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 17 0 0.00 24 5 17.24 - - - ANKRD30B 0 genome.wustl.edu 37 18 14803745 14803745 + Missense_Mutation SNP A A G TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 18 14803745 14803745 A G SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known missense c.2206 p.T736A 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 50 0 0.00 32 4 11.11 - - - BCL9 0 genome.wustl.edu 37 1 147091300 147091300 + Missense_Mutation SNP C C T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 1 147091300 147091300 C T SNP BCL9 ENST00000234739 human ensembl 69_37n +1 known missense c.1339 p.P447S 0.977 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 12 0 0.00 5 12 70.59 - - - C11orf70 0 genome.wustl.edu 37 11 101951992 101951992 + Missense_Mutation SNP G G A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 11 101951992 101951992 G A SNP C11orf70 ENST00000434758 human ensembl 69_37n +1 known missense c.655 p.V219I 0.941 NULL NULL - no_errors C11orf70 HGNC ENSG00000137691 69 0 0.00 11 16 59.26 - - - CACTIN 0 genome.wustl.edu 37 19 3619155 3619155 + Missense_Mutation SNP C C T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 19 3619155 3619155 C T SNP CACTIN ENST00000221899 human ensembl 69_37n -1 known missense c.766 p.V256M 1.000 pfam_Cactin_dom pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 28 0 0.00 13 6 31.58 - - - CMYA5 0 genome.wustl.edu 37 5 79035212 79035212 + Missense_Mutation SNP A A G TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 5 79035212 79035212 A G SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.10624 p.I3542V 1.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 33 0 0.00 15 9 37.50 - - - CSMD1 0 genome.wustl.edu 37 8 3081256 3081256 + Missense_Mutation SNP G G T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 8 3081256 3081256 G T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.4482 p.F1494L 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 24 0 0.00 20 7 25.93 - - - ELN 0 genome.wustl.edu 37 7 73474894 73474894 + Missense_Mutation SNP T T C TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 7 73474894 73474894 T C SNP ELN ENST00000358929 human ensembl 69_37n +1 known missense c.1915 p.S639P 0.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 51 0 0.00 43 40 48.19 - - - ERI2 0 genome.wustl.edu 37 16 20802184 20802184 + Missense_Mutation SNP T T G TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 16 20802184 20802184 T G SNP ERI2 ENST00000300005 human ensembl 69_37n -1 known missense c.803 p.Q268P 0.018 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI2 HGNC ENSG00000196678 34 0 0.00 45 8 15.09 - - - FAT4 0 genome.wustl.edu 37 4 126372690 126372690 + Missense_Mutation SNP G G A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 4 126372690 126372690 G A SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.10519 p.G3507R 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 45 0 0.00 37 7 15.91 - - - FREM2 0 genome.wustl.edu 37 13 39261493 39261493 + Silent SNP C C G TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 13 39261493 39261493 C G SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known silent c.12 p.A4 0.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 15 0 0.00 7 7 50.00 - - - FRMPD2 0 genome.wustl.edu 37 10 49448466 49448466 + Silent SNP G G A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 10 49448466 49448466 G A SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known silent c.637 p.L213 0.998 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 20 0 0.00 26 6 18.75 - - - HIST1H3F 0 genome.wustl.edu 37 6 26250661 26250661 + Missense_Mutation SNP G G A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 6 26250661 26250661 G A SNP HIST1H3F ENST00000446824 human ensembl 69_37n -1 known missense c.173 p.S58L 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC ENSG00000256316 44 0 0.00 29 10 25.64 - - - INSM2 0 genome.wustl.edu 37 14 36005145 36005145 + Silent SNP C C A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 14 36005145 36005145 C A SNP INSM2 ENST00000307169 human ensembl 69_37n +1 known silent c.1687 p.R563 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 12 0 0.00 6 7 53.85 - - - KCNS1 0 genome.wustl.edu 37 20 43723698 43723698 + Missense_Mutation SNP C C T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 20 43723698 43723698 C T SNP KCNS1 ENST00000306117 human ensembl 69_37n -1 known missense c.1394 p.R465Q 1.000 NULL 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_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 35 0 0.00 25 5 16.67 - - - KRTAP4-6 0 genome.wustl.edu 37 17 39296499 39296499 + Missense_Mutation SNP G G A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 17 39296499 39296499 G A SNP KRTAP4-6 ENST00000345847 human ensembl 69_37n -1 known missense c.241 p.R81C 0.992 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 33 0 0.00 32 5 13.51 - - - OR5M8 0 genome.wustl.edu 37 11 56258125 56258125 + Missense_Mutation SNP C C A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 11 56258125 56258125 C A SNP OR5M8 ENST00000327216 human ensembl 69_37n -1 known missense c.722 p.G241V 0.094 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 29 0 0.00 21 4 16.00 - - - PCDHGC4 0 genome.wustl.edu 37 5 140866811 140866811 + Missense_Mutation SNP C C G TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 5 140866811 140866811 C G SNP PCDHGC4 ENST00000306593 human ensembl 69_37n +1 known missense c.2071 p.L691V 0.980 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 54 0 0.00 42 10 19.23 - - - POF1B 0 genome.wustl.edu 37 X 84634256 84634256 + Silent SNP G G T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 X 84634256 84634256 G T SNP POF1B ENST00000373145 human ensembl 69_37n -1 known silent c.204 p.P68 0.931 NULL NULL - no_errors POF1B HGNC ENSG00000124429 47 0 0.00 19 11 36.67 - - - POLE 0 genome.wustl.edu 37 12 133250274 133250274 + Missense_Mutation SNP A A G TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 12 133250274 133250274 A G SNP POLE ENST00000455752 human ensembl 69_37n -1 known missense c.1279 p.Y427H 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 33 0 0.00 19 9 32.14 - - - PPARGC1A 0 genome.wustl.edu 37 4 23815386 23815386 + Nonsense_Mutation SNP G G A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 4 23815386 23815386 G A SNP PPARGC1A ENST00000264867 human ensembl 69_37n -1 known nonsense c.1720 p.R574* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 43 0 0.00 42 7 14.29 - - - PPFIA3 0 genome.wustl.edu 37 19 49632226 49632226 + Missense_Mutation SNP C C T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 19 49632226 49632226 C T SNP PPFIA3 ENST00000334186 human ensembl 69_37n +1 known missense c.464 p.A155V 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 29 0 0.00 17 8 32.00 - - - RAB18 0 genome.wustl.edu 37 10 27798830 27798830 + Nonsense_Mutation SNP C C G TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 10 27798830 27798830 C G SNP RAB18 ENST00000423465 human ensembl 69_37n +1 known nonsense c.345 p.Y115* 1.000 pfam_Small_GTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_start_codon:pseudogene RAB18 HGNC ENSG00000099246 71 0 0.00 64 14 17.95 - - - RTTN 0 genome.wustl.edu 37 18 67684825 67684825 + Missense_Mutation SNP T T C TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 18 67684825 67684825 T C SNP RTTN ENST00000255674 human ensembl 69_37n -1 known missense c.6239 p.K2080R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 57 0 0.00 48 17 25.76 - - - SLC29A3 0 genome.wustl.edu 37 10 73111493 73111496 + Frame_Shift_Del DEL CTAC CTAC - TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 CTAC CTAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 10 73111493 73111496 CTAC - DEL SLC29A3 ENST00000373189 human ensembl 69_37n +1 known frame_shift_del c.558_561 p.I186fs 0.993:0.988:0.391:0.033 pfam_Eqnu_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 22 0 0.00 14 12 46.15 - - - SYTL4 0 genome.wustl.edu 37 X 99942108 99942108 + Silent SNP G G A TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 X 99942108 99942108 G A SNP SYTL4 ENST00000454200 human ensembl 69_37n -1 known silent c.1146 p.C382 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 38 0 0.00 13 6 31.58 - - - TTN 0 genome.wustl.edu 37 2 179611371 179611371 + Missense_Mutation SNP C C G TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 2 179611371 179611371 C G SNP TTN ENST00000360870 human ensembl 69_37n -1 known missense c.15756 p.E5252D 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 72 0 0.00 39 13 25.00 - - - USH2A 0 genome.wustl.edu 37 1 216591941 216591941 + Missense_Mutation SNP C C T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 1 216591941 216591941 C T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.566 p.R189H 1.000 superfamily_ConA-like_lec_gl,smart_LamG-like pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 65 0 0.00 52 14 21.21 - - - WDR52 0 genome.wustl.edu 37 3 113049172 113049172 + Missense_Mutation SNP C C T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 3 113049172 113049172 C T SNP WDR52 ENST00000393845 human ensembl 69_37n -1 known missense c.3959 p.R1320H 0.019 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 62 0 0.00 8 32 80.00 - - - WHSC1L1 0 genome.wustl.edu 37 8 38173482 38173482 + Nonsense_Mutation SNP G G C TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 8 38173482 38173482 G C SNP WHSC1L1 ENST00000317025 human ensembl 69_37n -1 known nonsense c.1934 p.S645* 1.000 NULL pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 57 0 0.00 35 49 58.33 - - - ZBTB48 0 genome.wustl.edu 37 1 6640763 6640763 + Missense_Mutation SNP G G T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 1 6640763 6640763 G T SNP ZBTB48 ENST00000377674 human ensembl 69_37n +1 known missense c.94 p.V32L 0.993 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 33 0 0.00 14 6 30.00 - - - ZNF69 0 genome.wustl.edu 37 19 12016108 12016108 + Missense_Mutation SNP C C T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c184a2b-d857-444a-936c-43e38a196df9 9a71e51e-6adf-4b93-b968-3849fcc81504 19 12016108 12016108 C T SNP ZNF69 ENST00000429654 human ensembl 69_37n +1 known missense c.896 p.T299M 0.992 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 ZNF69 HGNC ENSG00000198429 65 0 0.00 35 15 30.00 - - -