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 AASDHPPT 0 genome.wustl.edu 37 11 105962115 105962115 + Missense_Mutation SNP C C G TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 11 105962115 105962115 C G SNP AASDHPPT ENST00000278618 human ensembl 69_37n +1 known missense c.604 p.L202V 0.996 superfamily_4-PPantetheinyl_Trfase pfam_4-PPantetheinyl_Trfase,superfamily_4-PPantetheinyl_Trfase - no_errors AASDHPPT HGNC ENSG00000149313 299 0 0.00 115 32 21.77 - - - ADAMTS16 0 genome.wustl.edu 37 5 5262783 5262783 + Silent SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 5 5262783 5262783 G A SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known silent c.2676 p.V892 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 87 0 0.00 64 34 34.69 - - - ADAMTS7 0 genome.wustl.edu 37 15 79090438 79090438 + Silent SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 15 79090438 79090438 G A SNP ADAMTS7 ENST00000388820 human ensembl 69_37n -1 known silent c.474 p.L158 0.518 pfam_Peptidase_M12B_N 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 101 0 0.00 114 35 23.49 - - - ATRX 0 genome.wustl.edu 37 X 76813032 76813032 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e X 76813032 76813032 G A SNP ATRX ENST00000373344 human ensembl 69_37n -1 known missense c.6589 p.R2197C 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 260 0 0.00 144 52 26.53 - - - BRIX1 0 genome.wustl.edu 37 5 34915891 34915891 + Silent SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 5 34915891 34915891 G A SNP BRIX1 ENST00000336767 human ensembl 69_37n +1 known silent c.48 p.A16 0.992 NULL pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors BRIX1 HGNC ENSG00000113460 83 0 0.00 96 33 25.58 - - - C16orf59 0 genome.wustl.edu 37 16 2510938 2510938 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 16 2510938 2510938 G A SNP C16orf59 ENST00000565716 human ensembl 69_37n +1 known missense c.1 p.E1K 0.082 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C16orf59 HGNC ENSG00000162062 82 0 0.00 81 20 19.80 - - - CHMP3 0 genome.wustl.edu 37 2 86769398 86769398 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 2 86769398 86769398 C T SNP CHMP3 ENST00000439940 human ensembl 69_37n -1 known missense c.170 p.R57K 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP3 HGNC ENSG00000115561 281 0 0.00 164 59 26.46 - - - COPG1 0 genome.wustl.edu 37 3 128976344 128976344 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 3 128976344 128976344 G A SNP COPG1 ENST00000314797 human ensembl 69_37n +1 known missense c.611 p.R204H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 59 0 0.00 83 19 18.45 - - - CRAMP1L 0 genome.wustl.edu 37 16 1712794 1712794 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 16 1712794 1712794 G A SNP CRAMP1L ENST00000415022 human ensembl 69_37n +1 novel missense c.100 p.E34K 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CRAMP1L HGNC ENSG00000007545 46 0 0.00 47 12 20.34 - - - CYP2C9 0 genome.wustl.edu 37 10 96740960 96740960 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 10 96740960 96740960 G A SNP CYP2C9 ENST00000260682 human ensembl 69_37n +1 known missense c.982 p.E328K 0.976 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 254 0 0.00 141 37 20.79 - - - DNAJC14 0 genome.wustl.edu 37 12 56221997 56221997 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 12 56221997 56221997 G A SNP DNAJC14 ENST00000317269 human ensembl 69_37n -1 known missense c.446 p.S149F 0.314 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 124 0 0.00 86 25 22.52 - - - EBF4 0 genome.wustl.edu 37 20 2736401 2736401 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 20 2736401 2736401 G A SNP EBF4 ENST00000449079 human ensembl 69_37n +1 known missense c.1853 p.R618H 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF4 HGNC ENSG00000088881 15 0 0.00 28 16 36.36 - - - EIF2B5 0 genome.wustl.edu 37 3 183856022 183856022 + Silent SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 3 183856022 183856022 C T SNP EIF2B5 ENST00000273783 human ensembl 69_37n +1 known silent c.753 p.I251 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 184 0 0.00 161 49 23.33 - - - FBXL13 0 genome.wustl.edu 37 7 102453790 102453790 + Nonstop_Mutation SNP C C G TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 7 102453790 102453790 C G SNP FBXL13 ENST00000313221 human ensembl 69_37n -1 known nonstop c.2207 p.*736S 0.000 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC ENSG00000161040 347 0 0.00 243 76 23.82 - - - FITM2 0 genome.wustl.edu 37 20 42935837 42935837 + Silent SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 20 42935837 42935837 G A SNP FITM2 ENST00000396825 human ensembl 69_37n -1 known silent c.217 p.L73 0.986 pfam_FIT pfam_FIT - no_errors FITM2 HGNC ENSG00000197296 47 0 0.00 45 16 26.23 - - - FOXD3 0 genome.wustl.edu 37 1 63788817 63788817 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 1 63788817 63788817 G A SNP FOXD3 ENST00000371116 human ensembl 69_37n +1 known missense c.88 p.E30K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 9 0 0.00 14 4 22.22 - - - GOLGA6L5 0 genome.wustl.edu 37 15 85053254 85053254 + RNA SNP T T C TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 15 85053254 85053254 T C SNP GOLGA6L5 ENST00000414190 human ensembl 69_37n -1 known rna NULL NULL 0.973 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 41 0 0.00 43 6 12.24 - - - GPATCH2 0 genome.wustl.edu 37 1 217688186 217688186 + Missense_Mutation SNP A A T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 1 217688186 217688186 A T SNP GPATCH2 ENST00000366935 human ensembl 69_37n -1 known missense c.1144 p.S382T 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 89 0 0.00 87 18 17.14 - - - HIST1H2AG 0 genome.wustl.edu 37 6 27100867 27100867 + Missense_Mutation SNP A A G TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 6 27100867 27100867 A G SNP HIST1H2AG ENST00000359193 human ensembl 69_37n +1 known missense c.17 p.K6R 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AG HGNC ENSG00000196787 45 0 0.00 36 13 26.53 - - - HSD11B1 0 genome.wustl.edu 37 1 209880330 209880330 + Missense_Mutation SNP C C G TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 1 209880330 209880330 C G SNP HSD11B1 ENST00000261465 human ensembl 69_37n +1 known missense c.374 p.S125C 0.001 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1 HGNC ENSG00000117594 150 0 0.00 103 30 22.56 - - - HUWE1 0 genome.wustl.edu 37 X 53589797 53589797 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e X 53589797 53589797 C T SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.7199 p.R2400Q 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 132 0 0.00 97 30 23.62 - - - IGF2R 0 genome.wustl.edu 37 6 160494353 160494353 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 6 160494353 160494353 C T SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known missense c.4799 p.S1600F 0.995 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 149 0 0.00 109 34 23.78 - - - IL33 0 genome.wustl.edu 37 9 6252967 6252967 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 9 6252967 6252967 G A SNP IL33 ENST00000381434 human ensembl 69_37n +1 known missense c.445 p.D149N 0.826 NULL NULL - no_errors IL33 HGNC ENSG00000137033 138 0 0.00 67 21 23.86 - - - KIAA0141 0 genome.wustl.edu 37 5 141309823 141309823 + Silent SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 5 141309823 141309823 C T SNP KIAA0141 ENST00000194118 human ensembl 69_37n +1 known silent c.738 p.I246 0.996 smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 168 0 0.00 129 52 28.73 - - - KIF13B 0 genome.wustl.edu 37 8 28999688 28999688 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 8 28999688 28999688 C T SNP KIF13B ENST00000524189 human ensembl 69_37n -1 known missense c.2320 p.E774K 1.000 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 371 1 0.27 235 53 18.40 - - - LARGE 0 genome.wustl.edu 37 22 33670562 33670562 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 22 33670562 33670562 G A SNP LARGE ENST00000354992 human ensembl 69_37n -1 known missense c.2122 p.H708Y 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 185 0 0.00 104 74 41.57 - - - LRRIQ1 0 genome.wustl.edu 37 12 85449856 85449856 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 12 85449856 85449856 G A SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.1285 p.E429K 0.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 102 0 0.00 55 19 25.68 - - - MMS22L 0 genome.wustl.edu 37 6 97627350 97627350 + Missense_Mutation SNP T T C TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 6 97627350 97627350 T C SNP MMS22L ENST00000275053 human ensembl 69_37n -1 known missense c.2470 p.M824V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 165 0 0.00 65 44 40.37 - - - MUC16 0 genome.wustl.edu 37 19 9091474 9091474 + Missense_Mutation SNP G G C TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 19 9091474 9091474 G C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.341 p.S114C 0.004 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 132 0 0.00 112 38 25.33 - - - MYH10 0 genome.wustl.edu 37 17 8397132 8397132 + Missense_Mutation SNP C C A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 17 8397132 8397132 C A SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.4098 p.K1366N 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 193 0 0.00 128 61 32.28 - - - NOP56 0 genome.wustl.edu 37 20 2636074 2636074 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 20 2636074 2636074 G A SNP NOP56 ENST00000329276 human ensembl 69_37n +1 known missense c.673 p.E225K 1.000 NULL pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC ENSG00000101361 206 0 0.00 214 59 21.61 - - - NR2E3 0 genome.wustl.edu 37 15 72109942 72109942 + RNA SNP G G C TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 15 72109942 72109942 G C SNP NR2E3 ENST00000326995 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors NR2E3 HGNC ENSG00000031544 111 0 0.00 102 33 24.44 - - - NTMT1 0 genome.wustl.edu 37 9 132397668 132397668 + Silent SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 9 132397668 132397668 C T SNP NTMT1 ENST00000372480 human ensembl 69_37n +1 known silent c.597 p.L199 0.745 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 22 0 0.00 39 7 15.22 - - - NXF5 0 genome.wustl.edu 37 X 101097746 101097746 + Missense_Mutation SNP C C G TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e X 101097746 101097746 C G SNP NXF5 ENST00000263032 human ensembl 69_37n -1 known missense c.19 p.D7H 0.000 pfam_Tap_RNA-bd pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 616 1 0.16 384 137 26.30 - - - OR2L5 0 genome.wustl.edu 37 1 248185879 248185879 + Silent SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 1 248185879 248185879 C T SNP OR2L5 ENST00000355281 human ensembl 69_37n +1 known silent c.630 p.F210 0.001 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 OR2L5 HGNC ENSG00000197454 289 1 0.34 205 62 23.13 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 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 181 0 0.00 57 15 20.83 - - - POTEM 0 genome.wustl.edu 37 14 20010206 20010206 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 14 20010206 20010206 C T SNP POTEM ENST00000547848 human ensembl 69_37n -1 known missense c.952 p.A318T 0.004 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 POTEM HGNC ENSG00000187537 10 0 0.00 2 2 50.00 - - - RAB33A 0 genome.wustl.edu 37 X 129318409 129318409 + Missense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e X 129318409 129318409 G A SNP RAB33A ENST00000257017 human ensembl 69_37n +1 known missense c.409 p.G137R 1.000 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,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 96 0 0.00 99 26 20.80 - - - RAB39B 0 genome.wustl.edu 37 X 154490356 154490356 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e X 154490356 154490356 C T SNP RAB39B ENST00000369454 human ensembl 69_37n -1 known missense c.374 p.C125Y 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39B HGNC ENSG00000155961 150 0 0.00 111 48 30.19 - - - RASGRF1 0 genome.wustl.edu 37 15 79317805 79317805 + Nonsense_Mutation SNP G G A TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 15 79317805 79317805 G A SNP RASGRF1 ENST00000419573 human ensembl 69_37n -1 known nonsense c.1393 p.Q465* 1.000 smart_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 46 0 0.00 45 22 32.84 - - - SFT2D2 0 genome.wustl.edu 37 1 168204351 168204351 + Silent SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 1 168204351 168204351 C T SNP SFT2D2 ENST00000271375 human ensembl 69_37n +1 known silent c.249 p.L83 1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors SFT2D2 HGNC ENSG00000213064 330 0 0.00 315 78 19.85 - - - STAT3 0 genome.wustl.edu 37 17 40481441 40481441 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 17 40481441 40481441 C T SNP STAT3 ENST00000264657 human ensembl 69_37n -1 known missense c.1268 p.R423Q 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 182 1 0.54 78 49 38.28 - - - SVEP1 0 genome.wustl.edu 37 9 113166798 113166798 + Missense_Mutation SNP C C G TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 9 113166798 113166798 C G SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.9475 p.D3159H 0.982 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 201 0 0.00 135 40 22.86 - - - TGFBI 0 genome.wustl.edu 37 5 135389690 135389690 + Nonsense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 5 135389690 135389690 C T SNP TGFBI ENST00000514554 human ensembl 69_37n +1 novel nonsense c.337 p.Q113* 0.111 pfam_FAS1_domain,superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TGFBI HGNC ENSG00000120708 105 0 0.00 113 36 24.16 - - - TMEM38B 0 genome.wustl.edu 37 9 108483865 108483865 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 9 108483865 108483865 C T SNP TMEM38B ENST00000374692 human ensembl 69_37n +1 known missense c.317 p.S106L 0.792 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 243 0 0.00 143 50 25.91 - - - TOX4 0 genome.wustl.edu 37 14 21955713 21955713 + Missense_Mutation SNP A A T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 14 21955713 21955713 A T SNP TOX4 ENST00000262709 human ensembl 69_37n +1 known missense c.179 p.D60V 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC ENSG00000092203 177 0 0.00 112 38 25.17 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 77 0 0.00 57 26 31.33 - - - TTLL4 0 genome.wustl.edu 37 2 219619083 219619083 + Missense_Mutation SNP A A T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 2 219619083 219619083 A T SNP TTLL4 ENST00000258398 human ensembl 69_37n +1 known missense c.3571 p.S1191C 0.064 NULL pfam_Tub_tyr_ligase - no_errors TTLL4 HGNC ENSG00000135912 43 0 0.00 34 23 40.35 - - - VWF 0 genome.wustl.edu 37 12 6125319 6125319 + Silent SNP G G T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 12 6125319 6125319 G T SNP VWF ENST00000261405 human ensembl 69_37n -1 known silent c.5391 p.V1797 0.443 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 65 0 0.00 64 28 30.43 - - - XKR4 0 genome.wustl.edu 37 8 56436760 56436760 + Missense_Mutation SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 8 56436760 56436760 C T SNP XKR4 ENST00000327381 human ensembl 69_37n +1 known missense c.1927 p.R643W 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 122 0 0.00 126 49 28.00 - - - ZNF589 0 genome.wustl.edu 37 3 48309446 48309446 + Silent SNP C C T TCGA-BH-A0B0-01A-21D-A10Y-09 TCGA-BH-A0B0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4680fd93-33c8-4aee-942b-5c616acd02cf fc9e6937-9af0-4ecb-983c-510ce060bb0e 3 48309446 48309446 C T SNP ZNF589 ENST00000354698 human ensembl 69_37n +1 known silent c.265 p.L89 0.112 smart_Znf_C2H2-like,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF589 HGNC ENSG00000164048 88 0 0.00 73 21 22.34 - - -