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 ACTR1A 0 genome.wustl.edu 37 10 104241877 104241877 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 10 104241877 104241877 C T SNP ACTR1A ENST00000369905 human ensembl 69_37n -1 known missense c.806 p.G269E 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR1A HGNC ENSG00000138107 78 0 0.00 72 14 16.28 - - - ADPRHL2 0 genome.wustl.edu 37 1 36557241 36557241 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 36557241 36557241 G A SNP ADPRHL2 ENST00000373178 human ensembl 69_37n +1 known missense c.331 p.D111N 0.998 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 121 0 0.00 82 25 23.36 - - - ADRBK1 0 genome.wustl.edu 37 11 67050618 67050618 + Missense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 11 67050618 67050618 C G SNP ADRBK1 ENST00000308595 human ensembl 69_37n +1 known missense c.1247 p.S416C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 76 0 0.00 387 46 10.60 - - - AFF2 0 genome.wustl.edu 37 X 147743846 147743846 + Missense_Mutation SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 X 147743846 147743846 C A SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.598 p.P200T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 114 0 0.00 56 27 32.53 - - - ALDH1A3 0 genome.wustl.edu 37 15 101438383 101438383 + Missense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 15 101438383 101438383 C G SNP ALDH1A3 ENST00000329841 human ensembl 69_37n +1 known missense c.876 p.D292E 0.009 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 61 0 0.00 28 14 33.33 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015505 133015505 + RNA SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 2 133015505 133015505 G A SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.040 - - - no_errors ANKRD30BL HGNC ENSG00000163046 40 0 0.00 62 12 16.22 - - - ATP5A1 0 genome.wustl.edu 37 18 43668162 43668162 + Missense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 18 43668162 43668162 C G SNP ATP5A1 ENST00000282050 human ensembl 69_37n -1 known missense c.712 p.E238Q 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_F1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_F1-cplx_asu - no_errors ATP5A1 HGNC ENSG00000152234 306 0 0.00 134 45 25.14 - - - ATP8B3 0 genome.wustl.edu 37 19 1796813 1796813 + Silent SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 1796813 1796813 C A SNP ATP8B3 ENST00000539485 human ensembl 69_37n -1 known silent c.1650 p.L550 0.010 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 11 0 0.00 12 5 29.41 - - - BAHD1 0 genome.wustl.edu 37 15 40750766 40750766 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 15 40750766 40750766 G A SNP BAHD1 ENST00000416165 human ensembl 69_37n +1 known missense c.103 p.E35K 0.914 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 30 0 0.00 19 9 32.14 - - - BAZ2B 0 genome.wustl.edu 37 2 160295653 160295653 + Nonsense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 2 160295653 160295653 G C SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known nonsense c.767 p.S256* 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 683 0 0.00 353 114 24.41 - - - BOD1L1 0 genome.wustl.edu 37 4 13605023 13605023 + Missense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 4 13605023 13605023 C G SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known missense c.3501 p.L1167F 0.005 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 185 0 0.00 80 24 23.08 - - - BOD1L1 0 genome.wustl.edu 37 4 13605203 13605203 + Missense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 4 13605203 13605203 C G SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known missense c.3321 p.K1107N 0.021 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 397 0 0.00 154 59 27.70 - - - C10orf12 0 genome.wustl.edu 37 10 98742331 98742331 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 10 98742331 98742331 C T SNP C10orf12 ENST00000286067 human ensembl 69_37n +1 known missense c.1184 p.S395L 0.047 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 51 0 0.00 33 10 23.26 - - - C10orf53 0 genome.wustl.edu 37 10 50916467 50916467 + Missense_Mutation SNP A A G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 10 50916467 50916467 A G SNP C10orf53 ENST00000374112 human ensembl 69_37n +1 known missense c.278 p.Q93R 0.002 NULL NULL - no_errors C10orf53 HGNC ENSG00000178645 135 0 0.00 101 29 22.31 - - - C11orf86 0 genome.wustl.edu 37 11 66743094 66743094 + Silent SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 11 66743094 66743094 G C SNP C11orf86 ENST00000308963 human ensembl 69_37n +1 known silent c.261 p.L87 0.765 NULL NULL - no_errors C11orf86 HGNC ENSG00000173237 12 0 0.00 11 5 31.25 - - - C4orf29 0 genome.wustl.edu 37 4 128938554 128938554 + Silent SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 4 128938554 128938554 G C SNP C4orf29 ENST00000398965 human ensembl 69_37n +1 known silent c.507 p.V169 1.000 pfam_DUF2048 pfam_DUF2048 - no_errors C4orf29 HGNC ENSG00000164074 324 0 0.00 113 41 26.62 - - - C5orf42 0 genome.wustl.edu 37 5 37213766 37213766 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 5 37213766 37213766 C T SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.2815 p.V939I 0.989 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 81 0 0.00 87 16 15.53 - - - C5orf42 0 genome.wustl.edu 37 5 37224748 37224748 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 5 37224748 37224748 C T SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.2386 p.E796K 0.849 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 465 0 0.00 276 76 21.59 - - - CALR3 0 genome.wustl.edu 37 19 16593522 16593522 + Missense_Mutation SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 16593522 16593522 C A SNP CALR3 ENST00000269881 human ensembl 69_37n -1 known missense c.753 p.W251C 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,pirsf_Calreticulin,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000141979 51 0 0.00 79 20 20.20 - - - CDHR3 0 genome.wustl.edu 37 7 105660837 105660837 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 7 105660837 105660837 G C SNP CDHR3 ENST00000317716 human ensembl 69_37n +1 known missense c.1672 p.E558Q 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 190 0 0.00 133 40 22.99 - - - CEP350 0 genome.wustl.edu 37 1 180053301 180053301 + Nonsense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 180053301 180053301 C T SNP CEP350 ENST00000429851 human ensembl 69_37n +1 novel nonsense c.796 p.Q266* 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CEP350 HGNC ENSG00000135837 195 0 0.00 228 31 11.97 - - - CEP95 0 genome.wustl.edu 37 17 62533819 62533819 + Silent SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 17 62533819 62533819 C T SNP CEP95 ENST00000556440 human ensembl 69_37n +1 known silent c.2388 p.F796 1.000 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 138 0 0.00 62 13 17.33 - - - CHCHD2 0 genome.wustl.edu 37 7 56171926 56171926 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 7 56171926 56171926 G A SNP CHCHD2 ENST00000395422 human ensembl 69_37n -1 known missense c.293 p.T98I 1.000 NULL pfam_CHCH - no_errors CHCHD2 HGNC ENSG00000106153 14 0 0.00 33 9 21.43 - - - COL12A1 0 genome.wustl.edu 37 6 75893674 75893674 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 6 75893674 75893674 G A SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.1184 p.S395L 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 150 0 0.00 118 27 18.62 - - - DCTN2 0 genome.wustl.edu 37 12 57925870 57925870 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 12 57925870 57925870 G A SNP DCTN2 ENST00000550201 human ensembl 69_37n -1 known missense c.944 p.S315F 0.956 NULL pfam_Dynamitin_2su - no_errors DCTN2 HGNC ENSG00000175203 183 0 0.00 140 38 21.35 - - - DEFB114 0 genome.wustl.edu 37 6 49928136 49928136 + Missense_Mutation SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 6 49928136 49928136 C A SNP DEFB114 ENST00000322066 human ensembl 69_37n -1 known missense c.79 p.D27Y 0.014 NULL NULL - no_errors DEFB114 HGNC ENSG00000177684 228 0 0.00 119 30 20.13 - - - DHX37 0 genome.wustl.edu 37 12 125461919 125461919 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 12 125461919 125461919 G A SNP DHX37 ENST00000308736 human ensembl 69_37n -1 known missense c.856 p.P286S 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 53 0 0.00 37 10 21.28 - - - DNAH1 0 genome.wustl.edu 37 3 52360796 52360796 + Silent SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 3 52360796 52360796 C T SNP DNAH1 ENST00000420323 human ensembl 69_37n +1 known silent c.627 p.F209 0.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 55 0 0.00 52 37 41.57 - - - DTD1 0 genome.wustl.edu 37 20 18724832 18724832 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 20 18724832 18724832 G A SNP DTD1 ENST00000377452 human ensembl 69_37n +1 known missense c.566 p.R189Q 0.904 NULL pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls - no_errors DTD1 HGNC ENSG00000125821 108 0 0.00 35 68 66.02 - - - DYNC1H1 0 genome.wustl.edu 37 14 102516407 102516407 + Splice_Site SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 14 102516407 102516407 G A SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known splice_site c.13685-1 e77-1 1.000 - - - no_errors DYNC1H1 HGNC ENSG00000197102 32 0 0.00 74 16 17.78 - - - EFNA3 0 genome.wustl.edu 37 1 155058975 155058975 + Missense_Mutation SNP G G T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 155058975 155058975 G T SNP EFNA3 ENST00000368408 human ensembl 69_37n +1 known missense c.673 p.A225S 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA3 HGNC ENSG00000143590 27 0 0.00 46 12 20.69 - - - EIF3L 0 genome.wustl.edu 37 22 38266249 38266249 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 22 38266249 38266249 C T SNP EIF3L ENST00000425539 human ensembl 69_37n +1 known missense c.775 p.R259C 1.000 pfam_TIF3_suL pfam_TIF3_suL - no_errors EIF3L HGNC ENSG00000100129 331 0 0.00 193 69 26.34 - - - ENSG00000248710 0 genome.wustl.edu 37 3 159976355 159976355 + Silent SNP T T A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 3 159976355 159976355 T A SNP ENSG00000248710 ENST00000483754 human ensembl 69_37n -1 known silent c.2805 p.S935 0.575 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 610 0 0.00 515 114 18.10 - - - EPPK1 0 genome.wustl.edu 37 8 144944180 144944180 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 8 144944180 144944180 G C SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known missense c.3242 p.S1081C 0.003 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 26 0 0.00 37 11 22.92 - - - GNPAT 0 genome.wustl.edu 37 1 231396288 231396288 + Silent SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 231396288 231396288 C T SNP GNPAT ENST00000366647 human ensembl 69_37n +1 known silent c.297 p.L99 1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors GNPAT HGNC ENSG00000116906 187 0 0.00 91 25 21.37 - - - GOLGA1 0 genome.wustl.edu 37 9 127660909 127660909 + Silent SNP T T C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 9 127660909 127660909 T C SNP GOLGA1 ENST00000373555 human ensembl 69_37n -1 known silent c.1326 p.Q442 1.000 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 355 0 0.00 161 46 22.22 - - - GP6 0 genome.wustl.edu 37 19 55526128 55526128 + Silent SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 55526128 55526128 G A SNP GP6 ENST00000310373 human ensembl 69_37n -1 known silent c.1185 p.F395 0.001 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 41 0 0.00 45 13 22.41 - - - GPR98 0 genome.wustl.edu 37 5 90077371 90077371 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 5 90077371 90077371 G C SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.13207 p.D4403H 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 127 0 0.00 43 15 25.86 - - - GPSM3 0 genome.wustl.edu 37 6 32159275 32159275 + Missense_Mutation SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 6 32159275 32159275 C A SNP GPSM3 ENST00000375040 human ensembl 69_37n -1 known missense c.351 p.Q117H 1.000 pfam_GoLoco_motif,smart_GoLoco_motif pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 21 0 0.00 36 7 16.28 - - - GZMK 0 genome.wustl.edu 37 5 54329596 54329597 + Frame_Shift_Ins INS - - AT TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 5 54329596 54329597 - AT INS GZMK ENST00000231009 human ensembl 69_37n +1 known frame_shift_ins c.637_638 p.S214fs 1.000:1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 179 0 0.00 49 60 55.05 - - - HOOK2 0 genome.wustl.edu 37 19 12885536 12885536 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 12885536 12885536 C T SNP HOOK2 ENST00000397668 human ensembl 69_37n -1 known missense c.151 p.E51K 0.999 pfam_HOOK pfam_HOOK,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 100 1 0.99 177 40 18.26 - - - INSRR 0 genome.wustl.edu 37 1 156823931 156823931 + Silent SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 156823931 156823931 G A SNP INSRR ENST00000368195 human ensembl 69_37n -1 known silent c.250 p.L84 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 25 0 0.00 49 22 30.99 - - - ITGB5 0 genome.wustl.edu 37 3 124578168 124578168 + Silent SNP G G T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 3 124578168 124578168 G T SNP ITGB5 ENST00000296181 human ensembl 69_37n -1 known silent c.282 p.L94 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 51 0 0.00 28 34 54.84 - - - ITK 0 genome.wustl.edu 37 5 156675970 156675970 + Missense_Mutation SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 5 156675970 156675970 C A SNP ITK ENST00000422843 human ensembl 69_37n +1 known missense c.1744 p.L582M 0.275 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 98 0 0.00 68 36 34.62 - - - ITSN2 0 genome.wustl.edu 37 2 24484451 24484451 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 2 24484451 24484451 G C SNP ITSN2 ENST00000355123 human ensembl 69_37n -1 known missense c.2516 p.S839C 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 428 0 0.00 127 51 28.65 - - - LGR6 0 genome.wustl.edu 37 1 202266674 202266674 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 202266674 202266674 C T SNP LGR6 ENST00000367278 human ensembl 69_37n +1 known missense c.755 p.A252V 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 94 0 0.00 134 22 14.10 - - - LRRC73 0 genome.wustl.edu 37 6 43476523 43476523 + Silent SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 6 43476523 43476523 G A SNP LRRC73 ENST00000372441 human ensembl 69_37n -1 novel silent c.408 p.L136 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC73 HGNC ENSG00000204052 18 0 0.00 15 5 25.00 - - - MATK 0 genome.wustl.edu 37 19 3784877 3784877 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 3784877 3784877 G C SNP MATK ENST00000395045 human ensembl 69_37n -1 known missense c.81 p.S27R 0.229 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 20 0 0.00 10 6 37.50 - - - ME3 0 genome.wustl.edu 37 11 86160981 86160981 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 11 86160981 86160981 C T SNP ME3 ENST00000359636 human ensembl 69_37n -1 known missense c.1081 p.E361K 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 173 0 0.00 233 43 15.52 - - - MEFV 0 genome.wustl.edu 37 16 3298943 3298943 + Missense_Mutation SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 16 3298943 3298943 C A SNP MEFV ENST00000219596 human ensembl 69_37n -1 known missense c.1322 p.R441L 0.394 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 192 0 0.00 142 47 24.87 - - - MLLT4 0 genome.wustl.edu 37 6 168319551 168319551 + Missense_Mutation SNP G G T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 6 168319551 168319551 G T SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.2825 p.C942F 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 175 0 0.00 67 27 28.72 - - - MOAP1 0 genome.wustl.edu 37 14 93650053 93650053 + Nonsense_Mutation SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 14 93650053 93650053 C A SNP MOAP1 ENST00000298894 human ensembl 69_37n -1 known nonsense c.535 p.E179* 0.960 NULL NULL - no_errors MOAP1 HGNC ENSG00000165943 80 0 0.00 55 31 36.05 - - - MSH6 0 genome.wustl.edu 37 2 48027214 48027214 + Missense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 2 48027214 48027214 C G SNP MSH6 ENST00000234420 human ensembl 69_37n +1 known missense c.2092 p.Q698E 1.000 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC ENSG00000116062 196 0 0.00 80 25 23.81 - - - MYO5A 0 genome.wustl.edu 37 15 52652227 52652227 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 15 52652227 52652227 C T SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known missense c.3361 p.E1121K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 186 0 0.00 146 59 28.78 - - - N4BP1 0 genome.wustl.edu 37 16 48585301 48585301 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 16 48585301 48585301 C T SNP N4BP1 ENST00000262384 human ensembl 69_37n -1 known missense c.2113 p.D705N 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 156 1 0.64 56 20 26.32 - - - NBPF10 0 genome.wustl.edu 37 1 145366857 145366857 + Missense_Mutation SNP G G T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 145366857 145366857 G T SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known missense c.10167 p.E3389D 0.002 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 12 0 0.00 3 4 57.14 - - - NFE2L1 0 genome.wustl.edu 37 17 46128581 46128581 + Nonsense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 17 46128581 46128581 C G SNP NFE2L1 ENST00000362042 human ensembl 69_37n +1 known nonsense c.101 p.S34* 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 80 0 0.00 79 19 19.39 - - - OR5M3 0 genome.wustl.edu 37 11 56237827 56237827 + Silent SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 11 56237827 56237827 G A SNP OR5M3 ENST00000312240 human ensembl 69_37n -1 known silent c.147 p.V49 0.001 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 OR5M3 HGNC ENSG00000174937 155 1 0.64 76 27 26.21 - - - PAPD5 0 genome.wustl.edu 37 16 50258849 50258849 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 16 50258849 50258849 G A SNP PAPD5 ENST00000436909 human ensembl 69_37n +1 known missense c.1511 p.R504K 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 434 0 0.00 203 64 23.88 - - - PEG3 0 genome.wustl.edu 37 19 57326917 57326917 + Nonsense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 57326917 57326917 G A SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known nonsense c.2893 p.R965* 0.983 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 158 0 0.00 101 37 26.62 - - - PHF14 0 genome.wustl.edu 37 7 11030350 11030350 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 7 11030350 11030350 G C SNP PHF14 ENST00000403050 human ensembl 69_37n +1 known missense c.921 p.K307N 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 364 0 0.00 171 91 34.73 - - - PHTF2 0 genome.wustl.edu 37 7 77531171 77531171 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 7 77531171 77531171 C T SNP PHTF2 ENST00000248550 human ensembl 69_37n +1 known missense c.379 p.R127W 1.000 pfam_TF_homeodomain_male pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 574 0 0.00 250 61 19.55 - - - PLA2G4F 0 genome.wustl.edu 37 15 42446363 42446363 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 15 42446363 42446363 G C SNP PLA2G4F ENST00000397272 human ensembl 69_37n -1 known missense c.377 p.S126C 0.038 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 88 0 0.00 108 32 22.86 - - - PLCD1 0 genome.wustl.edu 37 3 38051649 38051649 + Silent SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 3 38051649 38051649 G A SNP PLCD1 ENST00000463876 human ensembl 69_37n -1 known silent c.1173 p.L391 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 48 0 0.00 91 22 19.47 - - - PMPCA 0 genome.wustl.edu 37 9 139309033 139309033 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 9 139309033 139309033 G A SNP PMPCA ENST00000371717 human ensembl 69_37n +1 known missense c.466 p.D156N 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC ENSG00000165688 103 0 0.00 118 44 27.16 - - - PRAME 0 genome.wustl.edu 37 22 22892625 22892625 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 22 22892625 22892625 C T SNP PRAME ENST00000398741 human ensembl 69_37n -1 known missense c.476 p.R159Q 0.000 NULL NULL - no_errors PRAME HGNC ENSG00000185686 117 0 0.00 217 120 35.61 - - - PROS1 0 genome.wustl.edu 37 3 93629501 93629501 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 3 93629501 93629501 G A SNP PROS1 ENST00000394236 human ensembl 69_37n -1 known missense c.308 p.S103L 0.010 superfamily_GLA_domain pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 228 0 0.00 144 31 17.51 - - - PSG6 0 genome.wustl.edu 37 19 43414651 43414651 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 43414651 43414651 G C SNP PSG6 ENST00000402456 human ensembl 69_37n -1 putative missense c.787 p.Q263E 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 28 0 0.00 21 20 48.78 - - - REC8 0 genome.wustl.edu 37 14 24644763 24644763 + Silent SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 14 24644763 24644763 C T SNP REC8 ENST00000311457 human ensembl 69_37n +1 known silent c.474 p.L158 0.981 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 92 0 0.00 71 25 26.04 - - - RIMBP2 0 genome.wustl.edu 37 12 130926616 130926616 + Silent SNP G G T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 12 130926616 130926616 G T SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known silent c.1230 p.S410 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 31 0 0.00 71 13 15.48 - - - RNF20 0 genome.wustl.edu 37 9 104323426 104323426 + Missense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 9 104323426 104323426 C G SNP RNF20 ENST00000389120 human ensembl 69_37n +1 known missense c.2563 p.Q855E 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 133 0 0.00 68 28 29.17 - - - RTN2 0 genome.wustl.edu 37 19 45992785 45992785 + Missense_Mutation SNP T T C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 45992785 45992785 T C SNP RTN2 ENST00000245923 human ensembl 69_37n -1 known missense c.1060 p.T354A 0.597 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 26 0 0.00 10 5 33.33 - - - SCAMP3 0 genome.wustl.edu 37 1 155231906 155231906 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 155231906 155231906 C T SNP SCAMP3 ENST00000302631 human ensembl 69_37n -1 known missense c.37 p.E13K 0.999 NULL pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 12 0 0.00 57 13 18.57 - - - SETDB1 0 genome.wustl.edu 37 1 150923915 150923915 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 150923915 150923915 C T SNP SETDB1 ENST00000271640 human ensembl 69_37n +1 known missense c.2288 p.S763F 1.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 81 0 0.00 289 33 10.25 - - - SHCBP1 0 genome.wustl.edu 37 16 46633858 46633858 + Missense_Mutation SNP A A C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 16 46633858 46633858 A C SNP SHCBP1 ENST00000303383 human ensembl 69_37n -1 known missense c.1230 p.D410E 1.000 superfamily_Pectin_lyase_fold/virulence superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 150 0 0.00 109 20 15.50 - - - SLC2A11 0 genome.wustl.edu 37 22 24210689 24210689 + Nonsense_Mutation SNP G G T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 22 24210689 24210689 G T SNP SLC2A11 ENST00000398356 human ensembl 69_37n +1 known nonsense c.163 p.E55* 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A11 HGNC ENSG00000133460 83 0 0.00 241 41 14.49 - - - SPTA1 0 genome.wustl.edu 37 1 158644181 158644181 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 158644181 158644181 C T SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.1288 p.D430N 0.217 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 176 0 0.00 137 32 18.93 - - - SRRM1 0 genome.wustl.edu 37 1 24978962 24978962 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 1 24978962 24978962 G A SNP SRRM1 ENST00000447431 human ensembl 69_37n +1 known missense c.763 p.E255K 1.000 NULL pfam_PWI,superfamily_PWI,smart_PWI - no_errors SRRM1 HGNC ENSG00000133226 68 0 0.00 23 6 20.69 - - - SULF2 0 genome.wustl.edu 37 20 46385992 46385992 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 20 46385992 46385992 C T SNP SULF2 ENST00000359930 human ensembl 69_37n -1 known missense c.116 p.R39H 1.000 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 24 0 0.00 45 13 22.03 - - - SYAP1 0 genome.wustl.edu 37 X 16774820 16774820 + Silent SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 X 16774820 16774820 C A SNP SYAP1 ENST00000380155 human ensembl 69_37n +1 known silent c.759 p.I253 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors SYAP1 HGNC ENSG00000169895 215 0 0.00 76 35 31.25 - - - TLN2 0 genome.wustl.edu 37 15 63031644 63031644 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 15 63031644 63031644 C T SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known missense c.3785 p.T1262I 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 106 0 0.00 104 44 29.73 - - - TP53 0 genome.wustl.edu 37 17 7578236 7578236 + Missense_Mutation SNP A A T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 17 7578236 7578236 A T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.613 p.Y205N 0.994 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 221 2 0.88 72 34 31.48 - - - TRBV6-8 0 genome.wustl.edu 37 7 142124196 142124196 + Silent SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 7 142124196 142124196 G C SNP TRBV6-8 ENST00000390376 human ensembl 69_37n -1 known silent c.282 p.L94 0.183 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV6-8 HGNC ENSG00000253534 110 0 0.00 129 89 40.83 - - - TRIM21 0 genome.wustl.edu 37 11 4411328 4411328 + Missense_Mutation SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 11 4411328 4411328 C A SNP TRIM21 ENST00000254436 human ensembl 69_37n -1 known missense c.312 p.E104D 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box,prints_Znf_B-box_chordata pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 83 0 0.00 49 22 30.99 - - - UBAP1 0 genome.wustl.edu 37 9 34241364 34241364 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 9 34241364 34241364 C T SNP UBAP1 ENST00000545103 human ensembl 69_37n +1 known missense c.533 p.P178L 1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 201 0 0.00 135 70 34.15 - - - UXS1 0 genome.wustl.edu 37 2 106780148 106780148 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 2 106780148 106780148 C T SNP UXS1 ENST00000283148 human ensembl 69_37n -1 known missense c.205 p.E69K 1.000 pfam_UXS1_N pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 217 0 0.00 65 22 25.29 - - - VEGFB 0 genome.wustl.edu 37 11 64004663 64004663 + Frame_Shift_Del DEL A A - TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 11 64004663 64004663 A - DEL VEGFB ENST00000309422 human ensembl 69_37n +1 known frame_shift_del c.379 p.K129fs 1.000 pfscan_PD_growth_factor pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFB HGNC ENSG00000173511 148 0 0.00 101 14 12.07 - - - VPS13C 0 genome.wustl.edu 37 15 62239428 62239428 + Missense_Mutation SNP C C A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 15 62239428 62239428 C A SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.4840 p.D1614Y 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 265 1 0.38 107 33 23.57 - - - XAB2 0 genome.wustl.edu 37 19 7687717 7687717 + Silent SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 7687717 7687717 G A SNP XAB2 ENST00000358368 human ensembl 69_37n -1 known silent c.1302 p.S434 0.980 smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 26 0 0.00 24 12 33.33 - - - XBP1 0 genome.wustl.edu 37 22 29191398 29191399 + Frame_Shift_Del DEL AC AC - TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 22 29191398 29191399 AC - DEL XBP1 ENST00000344347 human ensembl 69_37n -1 known frame_shift_del c.896_895 p.V299fs 1.000:1.000 NULL pfam_bZIP_2,pfam_bZIP_1,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors XBP1 HGNC ENSG00000100219 156 0 0.00 113 22 16.30 - - - XRCC6 0 genome.wustl.edu 37 22 42018039 42018039 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 22 42018039 42018039 G C SNP XRCC6 ENST00000359308 human ensembl 69_37n +1 known missense c.31 p.E11Q 0.972 pirsf_DNA_helicase_ATP-dep_Ku70 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 307 0 0.00 255 82 24.26 - - - XRCC6 0 genome.wustl.edu 37 22 42024199 42024199 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 22 42024199 42024199 G A SNP XRCC6 ENST00000359308 human ensembl 69_37n +1 known missense c.160 p.E54K 1.000 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,tigrfam_DNA_helicase_ATP-dep_Ku70 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 464 0 0.00 191 50 20.75 - - - ZDHHC13 0 genome.wustl.edu 37 11 19169220 19169220 + Missense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 11 19169220 19169220 G A SNP ZDHHC13 ENST00000446113 human ensembl 69_37n +1 known missense c.374 p.R125Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 397 1 0.25 99 44 30.77 - - - ZFP106 0 genome.wustl.edu 37 15 42749157 42749157 + Nonsense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 15 42749157 42749157 G A SNP ZFP106 ENST00000263805 human ensembl 69_37n -1 known nonsense c.247 p.R83* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZFP106 HGNC ENSG00000103994 40 0 0.00 25 8 24.24 - - - ZNF208 0 genome.wustl.edu 37 19 22155448 22155448 + Silent SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 22155448 22155448 C T SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known silent c.2388 p.K796 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 147 0 0.00 60 16 21.05 - - - ZNF267 0 genome.wustl.edu 37 16 31927082 31927082 + Silent SNP T T C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 16 31927082 31927082 T C SNP ZNF267 ENST00000300870 human ensembl 69_37n +1 known silent c.1512 p.S504 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 97 0 0.00 37 13 26.00 - - - ZNF280B 0 genome.wustl.edu 37 22 22842274 22842274 + Nonsense_Mutation SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 22 22842274 22842274 G A SNP ZNF280B ENST00000360412 human ensembl 69_37n -1 known nonsense c.1450 p.Q484* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 224 0 0.00 339 165 32.74 - - - ZNF280B 0 genome.wustl.edu 37 22 22843589 22843589 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 22 22843589 22843589 G C SNP ZNF280B ENST00000360412 human ensembl 69_37n -1 known missense c.135 p.I45M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 261 0 0.00 445 232 34.22 - - - ZNF611 0 genome.wustl.edu 37 19 53209290 53209290 + Missense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 53209290 53209290 C G SNP ZNF611 ENST00000319783 human ensembl 69_37n -1 known missense c.1018 p.E340Q 0.999 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 ZNF611 HGNC ENSG00000213020 196 0 0.00 110 40 26.67 - - - ZNF700 0 genome.wustl.edu 37 19 12059454 12059454 + Silent SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 12059454 12059454 C T SNP ZNF700 ENST00000254321 human ensembl 69_37n +1 known silent c.615 p.F205 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 285 0 0.00 152 31 16.85 - - - ZNF85 0 genome.wustl.edu 37 19 21116931 21116931 + Silent SNP G G A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 19 21116931 21116931 G A SNP ZNF85 ENST00000328178 human ensembl 69_37n +1 known silent c.105 p.E35 0.925 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF85 HGNC ENSG00000105750 394 0 0.00 186 41 18.06 - - - ZPLD1 0 genome.wustl.edu 37 3 102181129 102181129 + Nonsense_Mutation SNP C C G TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b6b4af38-7ebb-4fa8-9876-6d88d2b1e7e4 c393110b-afe2-4838-bc8f-998ca23058d9 3 102181129 102181129 C G SNP ZPLD1 ENST00000306176 human ensembl 69_37n +1 known nonsense c.635 p.S212* 1.000 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors ZPLD1 HGNC ENSG00000170044 379 0 0.00 192 46 19.25 - - -