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 ABCC2 0 genome.wustl.edu 37 10 101601847 101601847 + Silent SNP C C G TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 10 101601847 101601847 C G SNP ABCC2 ENST00000370449 human ensembl 69_37n +1 known silent c.3738 p.L1246 0.996 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 117 0 0.00 275 58 17.42 - - - ACTR8 0 genome.wustl.edu 37 3 53908306 53908306 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 3 53908306 53908306 G T SNP ACTR8 ENST00000335754 human ensembl 69_37n -1 known missense c.997 p.Q333K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR8 HGNC ENSG00000113812 44 0 0.00 95 11 10.38 - - - ADAMTS3 0 genome.wustl.edu 37 4 73148964 73148964 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 4 73148964 73148964 G T SNP ADAMTS3 ENST00000286657 human ensembl 69_37n -1 known missense c.3507 p.F1169L 0.105 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,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 ADAMTS3 HGNC ENSG00000156140 53 0 0.00 148 20 11.83 - - - AGPAT4 0 genome.wustl.edu 37 6 161570318 161570318 + Nonsense_Mutation SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 6 161570318 161570318 G A SNP AGPAT4 ENST00000437165 human ensembl 69_37n -1 known nonsense c.4 p.Q2* 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AGPAT4 HGNC ENSG00000026652 62 0 0.00 96 23 19.33 - - - AIFM1 0 genome.wustl.edu 37 X 129263972 129263972 + Missense_Mutation SNP G G C TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 X 129263972 129263972 G C SNP AIFM1 ENST00000287295 human ensembl 69_37n -1 known missense c.1743 p.I581M 1.000 superfamily_FAD/NAD-linked_Rdtase_dimer pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 41 0 0.00 61 7 10.29 - - - ARGFX 0 genome.wustl.edu 37 3 121305394 121305394 + Missense_Mutation SNP G G C TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 3 121305394 121305394 G C SNP ARGFX ENST00000334384 human ensembl 69_37n +1 known missense c.895 p.D299H 0.003 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ARGFX HGNC ENSG00000186103 35 0 0.00 51 6 10.53 - - - ASF1A 0 genome.wustl.edu 37 6 119226836 119226836 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 6 119226836 119226836 G T SNP ASF1A ENST00000229595 human ensembl 69_37n +1 known missense c.245 p.G82V 1.000 pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like - no_errors ASF1A HGNC ENSG00000111875 47 0 0.00 97 12 11.01 - - - ASH1L 0 genome.wustl.edu 37 1 155429604 155429604 + Missense_Mutation SNP C C G TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 1 155429604 155429604 C G SNP ASH1L ENST00000368346 human ensembl 69_37n -1 known missense c.5070 p.E1690D 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 66 0 0.00 223 31 12.20 - - - ASPM 0 genome.wustl.edu 37 1 197099176 197099176 + Missense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 1 197099176 197099176 C T SNP ASPM ENST00000367409 human ensembl 69_37n -1 known missense c.2498 p.G833E 1.000 superfamily_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 42 0 0.00 114 13 10.24 - - - ASXL2 0 genome.wustl.edu 37 2 25978922 25978922 + Missense_Mutation SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 2 25978922 25978922 G A SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.1001 p.S334L 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 33 0 0.00 65 13 16.67 - - - ATP2B1 0 genome.wustl.edu 37 12 90010583 90010583 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 12 90010583 90010583 G T SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known missense c.2063 p.P688H 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 51 0 0.00 103 12 10.43 - - - B4GALNT4 0 genome.wustl.edu 37 11 380848 380848 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 11 380848 380848 G T SNP B4GALNT4 ENST00000329962 human ensembl 69_37n +1 known missense c.2893 p.G965C 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 36 0 0.00 59 8 11.94 - - - BRD8 0 genome.wustl.edu 37 5 137503631 137503631 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 5 137503631 137503631 G T SNP BRD8 ENST00000254900 human ensembl 69_37n -1 known missense c.779 p.A260D 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 32 0 0.00 45 9 16.67 - - - C10orf76 0 genome.wustl.edu 37 10 103771512 103771512 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 10 103771512 103771512 G T SNP C10orf76 ENST00000370033 human ensembl 69_37n -1 known missense c.799 p.Q267K 1.000 superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 90 0 0.00 114 31 21.38 - - - C9orf37 0 genome.wustl.edu 37 9 140510463 140510463 + Nonsense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 9 140510463 140510463 C T SNP C9orf37 ENST00000371417 human ensembl 69_37n -1 known nonsense c.189 p.W63* 0.268 NULL NULL - no_errors C9orf37 HGNC ENSG00000203993 46 0 0.00 90 13 12.62 - - - C9orf50 0 genome.wustl.edu 37 9 132381848 132381848 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 9 132381848 132381848 G T SNP C9orf50 ENST00000372478 human ensembl 69_37n -1 known missense c.667 p.P223T 0.000 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 65 0 0.00 115 13 10.16 - - - CCAR1 0 genome.wustl.edu 37 10 70520826 70520826 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 10 70520826 70520826 G T SNP CCAR1 ENST00000265872 human ensembl 69_37n +1 known missense c.1983 p.Q661H 1.000 pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 45 0 0.00 44 6 12.00 - - - CCL14 0 genome.wustl.edu 37 17 34312816 34312816 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 17 34312816 34312816 G T SNP CCL14 ENST00000435911 human ensembl 69_37n -1 known missense c.95 p.P32Q 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL14 HGNC ENSG00000213494 74 0 0.00 119 21 15.00 - - - CDC40 0 genome.wustl.edu 37 6 110534290 110534290 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 6 110534290 110534290 G T SNP CDC40 ENST00000307731 human ensembl 69_37n +1 known missense c.869 p.G290V 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 99 0 0.00 151 29 16.11 - - - CDC42BPA 0 genome.wustl.edu 37 1 227288919 227288919 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 1 227288919 227288919 G T SNP CDC42BPA ENST00000334218 human ensembl 69_37n -1 known missense c.2023 p.P675T 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 76 0 0.00 162 28 14.74 - - - CDH1 0 genome.wustl.edu 37 16 68862107 68862107 + Missense_Mutation SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 16 68862107 68862107 G A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known missense c.2195 p.R732Q 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 98 0 0.00 151 38 20.11 - - - CDK5RAP2 0 genome.wustl.edu 37 9 123171418 123171418 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 9 123171418 123171418 G T SNP CDK5RAP2 ENST00000349780 human ensembl 69_37n -1 known missense c.4591 p.Q1531K 0.003 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 69 0 0.00 116 13 10.08 - - - CHEK2 0 genome.wustl.edu 37 22 29095912 29095912 + Missense_Mutation SNP C C G TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 22 29095912 29095912 C G SNP CHEK2 ENST00000382580 human ensembl 69_37n -1 known missense c.1051 p.E351Q 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_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom - no_errors CHEK2 HGNC ENSG00000183765 75 0 0.00 120 18 13.04 - - - CYP26A1 0 genome.wustl.edu 37 10 94836960 94836960 + Missense_Mutation SNP T T A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 10 94836960 94836960 T A SNP CYP26A1 ENST00000224356 human ensembl 69_37n +1 known missense c.1393 p.W465R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 20 0 0.00 39 7 15.22 - - - DCDC2 0 genome.wustl.edu 37 6 24174967 24174967 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 6 24174967 24174967 G T SNP DCDC2 ENST00000378454 human ensembl 69_37n -1 known silent c.1422 p.A474 0.001 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 114 0 0.00 268 33 10.96 - - - DMPK 0 genome.wustl.edu 37 19 46283223 46283223 + Missense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 19 46283223 46283223 C T SNP DMPK ENST00000343373 human ensembl 69_37n -1 known missense c.95 p.R32K 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors DMPK HGNC ENSG00000104936 64 0 0.00 64 18 21.95 - - - DNAH10 0 genome.wustl.edu 37 12 124298415 124298415 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 12 124298415 124298415 G T SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.3382 p.D1128Y 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 62 0 0.00 95 18 15.93 - - - DNHD1 0 genome.wustl.edu 37 11 6570103 6570103 + Missense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 11 6570103 6570103 C T SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known missense c.7327 p.H2443Y 0.001 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 30 0 0.00 53 8 13.11 - - - DNMBP 0 genome.wustl.edu 37 10 101637038 101637038 + Nonsense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 10 101637038 101637038 G T SNP DNMBP ENST00000342239 human ensembl 69_37n -1 known nonsense c.4676 p.S1559* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors DNMBP HGNC ENSG00000107554 70 0 0.00 207 27 11.54 - - - DOCK3 0 genome.wustl.edu 37 3 51417596 51417596 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 3 51417596 51417596 G T SNP DOCK3 ENST00000266037 human ensembl 69_37n +1 known silent c.5541 p.L1847 1.000 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 70 0 0.00 66 14 17.50 - - - EML1 0 genome.wustl.edu 37 14 100364613 100364613 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 14 100364613 100364613 G T SNP EML1 ENST00000334192 human ensembl 69_37n +1 known missense c.928 p.V310F 1.000 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 48 0 0.00 104 14 11.86 - - - ERI3 0 genome.wustl.edu 37 1 44750563 44750563 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 1 44750563 44750563 G T SNP ERI3 ENST00000372257 human ensembl 69_37n -1 known missense c.775 p.Q259K 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 51 0 0.00 95 13 12.04 - - - FHL5 0 genome.wustl.edu 37 6 97058632 97058632 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 6 97058632 97058632 G T SNP FHL5 ENST00000326771 human ensembl 69_37n +1 known missense c.689 p.S230I 0.921 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 61 0 0.00 68 8 10.53 - - - FLOT2 0 genome.wustl.edu 37 17 27208299 27208299 + Missense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 17 27208299 27208299 C T SNP FLOT2 ENST00000394908 human ensembl 69_37n -1 known missense c.1009 p.E337K 1.000 NULL pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 32 0 0.00 40 8 16.67 - - - GATAD2A 0 genome.wustl.edu 37 19 19603408 19603408 + Nonsense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 19 19603408 19603408 C T SNP GATAD2A ENST00000404158 human ensembl 69_37n +1 known nonsense c.421 p.R141* 0.998 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 38 0 0.00 63 18 22.22 - - - GH2 0 genome.wustl.edu 37 17 61957710 61957710 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 17 61957710 61957710 G T SNP GH2 ENST00000423893 human ensembl 69_37n -1 known missense c.625 p.R209S 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 69 0 0.00 119 15 11.19 - - - GLRA4 0 genome.wustl.edu 37 X 102968564 102968564 + Missense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 X 102968564 102968564 C T SNP GLRA4 ENST00000372617 human ensembl 69_37n -1 known missense c.967 p.A323T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 69 0 0.00 116 15 11.45 - - - HBA2 0 genome.wustl.edu 37 16 223549 223549 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 16 223549 223549 G T SNP HBA2 ENST00000251595 human ensembl 69_37n +1 known missense c.379 p.D127Y 1.000 superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a,prints_Haemoglobin_pi - no_errors HBA2 HGNC ENSG00000188536 39 0 0.00 42 6 12.50 - - - HCRTR2 0 genome.wustl.edu 37 6 55147109 55147109 + Nonsense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 6 55147109 55147109 C T SNP HCRTR2 ENST00000370862 human ensembl 69_37n +1 known nonsense c.1192 p.R398* 0.180 pfam_Orexin_rcpt_2,prints_Orexin_rcpt_2 pfam_7TM_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 37 0 0.00 61 22 26.51 - - - HDAC4 0 genome.wustl.edu 37 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 2 240016733 240016733 G T SNP HDAC4 ENST00000345617 human ensembl 69_37n -1 known missense c.2238 p.F746L 0.191 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 27 0 0.00 12 6 33.33 - - - HHATL 0 genome.wustl.edu 37 3 42740389 42740389 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 3 42740389 42740389 G T SNP HHATL ENST00000310417 human ensembl 69_37n -1 known silent c.294 p.R98 1.000 NULL pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 31 0 0.00 32 7 17.95 - - - HMGN5 0 genome.wustl.edu 37 X 80371790 80371790 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 X 80371790 80371790 G T SNP HMGN5 ENST00000358130 human ensembl 69_37n -1 known silent c.180 p.A60 0.020 pfam_HMGN_fam,smart_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN5 HGNC ENSG00000198157 150 0 0.00 247 64 20.58 - - - HPCAL4 0 genome.wustl.edu 37 1 40150207 40150207 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 1 40150207 40150207 G T SNP HPCAL4 ENST00000372844 human ensembl 69_37n -1 known missense c.69 p.S23R 1.000 prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 25 0 0.00 45 13 22.41 - - - HS6ST1 0 genome.wustl.edu 37 2 129026227 129026227 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 2 129026227 129026227 G T SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.745 p.R249S 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 21 0 0.00 16 6 27.27 - - - KHDRBS2 0 genome.wustl.edu 37 6 62604590 62604590 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 6 62604590 62604590 G T SNP KHDRBS2 ENST00000281156 human ensembl 69_37n -1 known missense c.760 p.P254T 0.998 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 55 0 0.00 59 8 11.94 - - - KIAA1967 0 genome.wustl.edu 37 8 22464825 22464825 + Missense_Mutation SNP C C G TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 8 22464825 22464825 C G SNP KIAA1967 ENST00000523801 human ensembl 69_37n +1 putative missense c.496 p.L166V 1.000 NULL superfamily_NA-bd_OB-fold-like - no_start_codon:pseudogene:no_stop_codon KIAA1967 HGNC ENSG00000158941 49 0 0.00 98 19 16.24 - - - KIF5A 0 genome.wustl.edu 37 12 57975311 57975311 + Missense_Mutation SNP C C G TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 12 57975311 57975311 C G SNP KIF5A ENST00000455537 human ensembl 69_37n +1 known missense c.2869 p.L957V 0.354 NULL pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 36 0 0.00 56 14 20.00 - - - KPNB1 0 genome.wustl.edu 37 17 45750492 45750492 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 17 45750492 45750492 G T SNP KPNB1 ENST00000290158 human ensembl 69_37n +1 known missense c.1656 p.L552F 0.952 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 56 0 0.00 68 20 22.73 - - - KRT76 0 genome.wustl.edu 37 12 53164973 53164973 + Frame_Shift_Del DEL C C - TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 12 53164973 53164973 C - DEL KRT76 ENST00000332411 human ensembl 69_37n -1 known frame_shift_del c.1294 p.A432fs 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 60 0 0.00 130 37 21.89 - - - LAMB3 0 genome.wustl.edu 37 1 209791254 209791254 + Missense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 1 209791254 209791254 C T SNP LAMB3 ENST00000356082 human ensembl 69_37n -1 known missense c.3049 p.E1017K 0.996 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 37 0 0.00 78 19 19.59 - - - MAG 0 genome.wustl.edu 37 19 35793545 35793545 + Missense_Mutation SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 19 35793545 35793545 G A SNP MAG ENST00000392213 human ensembl 69_37n +1 known missense c.1165 p.E389K 0.966 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MAG HGNC ENSG00000105695 27 0 0.00 72 10 12.20 - - - MAGEB1 0 genome.wustl.edu 37 X 30268639 30268639 + Missense_Mutation SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 X 30268639 30268639 G A SNP MAGEB1 ENST00000378981 human ensembl 69_37n +1 known missense c.29 p.R10H 0.491 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 31 0 0.00 41 7 14.58 - - - MANBA 0 genome.wustl.edu 37 4 103578858 103578858 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 4 103578858 103578858 G T SNP MANBA ENST00000226578 human ensembl 69_37n -1 known missense c.1685 p.S562Y 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 30 0 0.00 78 10 11.36 - - - MAP3K4 0 genome.wustl.edu 37 6 161470388 161470388 + Nonsense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 6 161470388 161470388 G T SNP MAP3K4 ENST00000392142 human ensembl 69_37n +1 known nonsense c.1084 p.E362* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 46 0 0.00 72 12 14.29 - - - MARK1 0 genome.wustl.edu 37 1 220825486 220825486 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 1 220825486 220825486 G T SNP MARK1 ENST00000366917 human ensembl 69_37n +1 known missense c.1730 p.R577L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 67 0 0.00 143 19 11.73 - - - MBL1P 0 genome.wustl.edu 37 10 81666457 81666457 + RNA SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 10 81666457 81666457 G T SNP MBL1P ENST00000453174 human ensembl 69_37n +1 known rna NULL NULL 0.897 - - - no_errors MBL1P HGNC ENSG00000242600 48 0 0.00 78 12 13.33 - - - MCAM 0 genome.wustl.edu 37 11 119182249 119182249 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 11 119182249 119182249 G T SNP MCAM ENST00000264036 human ensembl 69_37n -1 known silent c.1398 p.V466 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MCAM HGNC ENSG00000076706 49 0 0.00 54 9 14.29 - - - MED12 0 genome.wustl.edu 37 X 70345962 70345962 + Missense_Mutation SNP C C G TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 X 70345962 70345962 C G SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.2499 p.F833L 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 25 0 0.00 57 18 24.00 - - - MIR624 0 genome.wustl.edu 37 14 31483858 31483858 + RNA SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 14 31483858 31483858 G T SNP MIR624 ENST00000385217 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors MIR624 HGNC ENSG00000207952 48 0 0.00 53 12 18.46 - - - MPHOSPH8 0 genome.wustl.edu 37 13 20235848 20235848 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 13 20235848 20235848 G T SNP MPHOSPH8 ENST00000414242 human ensembl 69_37n +1 known missense c.1802 p.G601V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 25 0 0.00 42 7 14.29 - - - NINL 0 genome.wustl.edu 37 20 25498423 25498423 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 20 25498423 25498423 G T SNP NINL ENST00000278886 human ensembl 69_37n -1 known silent c.243 p.R81 0.003 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 81 0 0.00 111 23 17.16 - - - OGDHL 0 genome.wustl.edu 37 10 50954843 50954843 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 10 50954843 50954843 G T SNP OGDHL ENST00000374103 human ensembl 69_37n -1 known missense c.1249 p.P417T 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 40 0 0.00 64 9 12.33 - - - OR5L2 0 genome.wustl.edu 37 11 55595570 55595570 + Silent SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 11 55595570 55595570 G A SNP OR5L2 ENST00000378397 human ensembl 69_37n +1 known silent c.876 p.L292 0.994 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 17 0 0.00 47 10 17.54 - - - OR6B1 0 genome.wustl.edu 37 7 143701740 143701740 + Silent SNP C C G TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 7 143701740 143701740 C G SNP OR6B1 ENST00000408922 human ensembl 69_37n +1 known silent c.651 p.S217 0.976 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6B1 HGNC ENSG00000221813 62 0 0.00 165 24 12.70 - - - OR6C76 0 genome.wustl.edu 37 12 55820958 55820959 + Frame_Shift_Ins INS - - A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 12 55820958 55820959 - A INS OR6C76 ENST00000328314 human ensembl 69_37n +1 known frame_shift_ins c.921_922 p.K311fs 0.003:0.016 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6C76 HGNC ENSG00000185821 9 0 0.00 22 8 26.67 - - - OR8B3 0 genome.wustl.edu 37 11 124266647 124266647 + Missense_Mutation SNP T T C TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 11 124266647 124266647 T C SNP OR8B3 ENST00000354597 human ensembl 69_37n -1 known missense c.601 p.I201V 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8B3 HGNC ENSG00000196661 30 0 0.00 86 19 18.10 - - - OR8K1 0 genome.wustl.edu 37 11 56113597 56113597 + Missense_Mutation SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 11 56113597 56113597 G A SNP OR8K1 ENST00000279783 human ensembl 69_37n +1 known missense c.83 p.G28E 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 50 0 0.00 101 13 11.30 - - - OSBPL1A 0 genome.wustl.edu 37 18 21761133 21761133 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 18 21761133 21761133 G T SNP OSBPL1A ENST00000319481 human ensembl 69_37n -1 known silent c.1788 p.L596 0.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 36 0 0.00 78 19 19.59 - - - OSMR 0 genome.wustl.edu 37 5 38933388 38933388 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 5 38933388 38933388 G T SNP OSMR ENST00000274276 human ensembl 69_37n +1 known missense c.2782 p.D928Y 0.937 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 34 0 0.00 61 15 19.74 - - - PCDH1 0 genome.wustl.edu 37 5 141244076 141244076 + Missense_Mutation SNP T T C TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 5 141244076 141244076 T C SNP PCDH1 ENST00000287008 human ensembl 69_37n -1 known missense c.1820 p.D607G 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 33 0 0.00 54 14 20.59 - - - PEX14 0 genome.wustl.edu 37 1 10596278 10596278 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 1 10596278 10596278 G T SNP PEX14 ENST00000356607 human ensembl 69_37n +1 known silent c.93 p.T31 0.895 pfam_Pex14_N pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 50 0 0.00 84 14 14.29 - - - PIAS1 0 genome.wustl.edu 37 15 68438931 68438931 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 15 68438931 68438931 G T SNP PIAS1 ENST00000249636 human ensembl 69_37n +1 known missense c.721 p.V241L 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS1 HGNC ENSG00000033800 53 0 0.00 99 16 13.91 - - - PIAS1 0 genome.wustl.edu 37 15 68438944 68438944 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 15 68438944 68438944 G T SNP PIAS1 ENST00000249636 human ensembl 69_37n +1 known missense c.734 p.R245L 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS1 HGNC ENSG00000033800 61 0 0.00 90 30 24.59 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 67 0 0.00 115 23 16.67 - - - POLDIP3 0 genome.wustl.edu 37 22 42992321 42992321 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 22 42992321 42992321 G T SNP POLDIP3 ENST00000252115 human ensembl 69_37n -1 known silent c.684 p.T228 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors POLDIP3 HGNC ENSG00000100227 75 0 0.00 104 19 15.45 - - - PTPRK 0 genome.wustl.edu 37 6 128294905 128294905 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 6 128294905 128294905 G T SNP PTPRK ENST00000368227 human ensembl 69_37n -1 known missense c.4088 p.P1363H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 38 0 0.00 61 8 11.59 - - - RAB3A 0 genome.wustl.edu 37 19 18309636 18309636 + Missense_Mutation SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 19 18309636 18309636 G A SNP RAB3A ENST00000222256 human ensembl 69_37n -1 known missense c.371 p.S124L 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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,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 RAB3A HGNC ENSG00000105649 41 0 0.00 96 14 12.73 - - - RAPGEF2 0 genome.wustl.edu 37 4 160235812 160235812 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 4 160235812 160235812 G T SNP RAPGEF2 ENST00000264431 human ensembl 69_37n +1 known missense c.262 p.D88Y 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 69 0 0.00 79 12 13.19 - - - RBBP8 0 genome.wustl.edu 37 18 20596862 20596862 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 18 20596862 20596862 G T SNP RBBP8 ENST00000327155 human ensembl 69_37n +1 known missense c.2429 p.G810V 1.000 pfam_DNA-repair_Sae2/CtIP pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 79 0 0.00 97 25 20.33 - - - RBM18 0 genome.wustl.edu 37 9 125023778 125023778 + RNA SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 9 125023778 125023778 C T SNP RBM18 ENST00000483428 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RBM18 HGNC ENSG00000119446 70 0 0.00 102 19 15.70 - - - RNF40 0 genome.wustl.edu 37 16 30779332 30779332 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 16 30779332 30779332 G T SNP RNF40 ENST00000324685 human ensembl 69_37n +1 known missense c.1547 p.G516V 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 32 0 0.00 52 6 10.34 - - - RRM2 0 genome.wustl.edu 37 2 10269209 10269209 + Missense_Mutation SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 2 10269209 10269209 G A SNP RRM2 ENST00000360566 human ensembl 69_37n +1 known missense c.1125 p.M375I 1.000 pfam_Ribonucl_Rdtase_small,superfamily_Ferritin/RR-like pfam_Ribonucl_Rdtase_small,superfamily_Ferritin/RR-like - no_errors RRM2 HGNC ENSG00000171848 105 0 0.00 240 30 11.11 - - - SELP 0 genome.wustl.edu 37 1 169565174 169565174 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 1 169565174 169565174 G T SNP SELP ENST00000263686 human ensembl 69_37n -1 known missense c.2090 p.P697Q 0.108 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 50 0 0.00 126 18 12.50 - - - SLCO4A1 0 genome.wustl.edu 37 20 61297777 61297777 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 20 61297777 61297777 G T SNP SLCO4A1 ENST00000217159 human ensembl 69_37n +1 known missense c.1322 p.G441V 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 48 0 0.00 50 6 10.71 - - - SMYD4 0 genome.wustl.edu 37 17 1703986 1703986 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 17 1703986 1703986 G T SNP SMYD4 ENST00000305513 human ensembl 69_37n -1 known silent c.702 p.S234 0.667 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 64 0 0.00 92 11 10.68 - - - SORCS2 0 genome.wustl.edu 37 4 7714483 7714483 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 4 7714483 7714483 G T SNP SORCS2 ENST00000507866 human ensembl 69_37n +1 known missense c.1892 p.R631L 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 34 0 0.00 32 4 11.11 - - - SPOCK1 0 genome.wustl.edu 37 5 136328289 136328289 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 5 136328289 136328289 G T SNP SPOCK1 ENST00000282223 human ensembl 69_37n -1 known missense c.590 p.A197D 0.998 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 44 0 0.00 80 13 13.98 - - - SUPT6H 0 genome.wustl.edu 37 17 27002030 27002030 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 17 27002030 27002030 G T SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known missense c.388 p.D130Y 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 41 0 0.00 62 16 20.51 - - - TBC1D3P5 0 genome.wustl.edu 37 17 25753496 25753496 + RNA SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 17 25753496 25753496 G T SNP TBC1D3P5 ENST00000586223 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 44 0 0.00 51 7 12.07 - - - TEX264 0 genome.wustl.edu 37 3 51718482 51718482 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 3 51718482 51718482 G T SNP TEX264 ENST00000341333 human ensembl 69_37n +1 known missense c.312 p.E104D 0.959 superfamily_Reg_factor_effector_bac superfamily_Reg_factor_effector_bac - no_errors TEX264 HGNC ENSG00000164081 36 0 0.00 36 6 14.29 - - - TM9SF4 0 genome.wustl.edu 37 20 30729674 30729674 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 20 30729674 30729674 G T SNP TM9SF4 ENST00000398022 human ensembl 69_37n +1 known silent c.504 p.R168 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 49 0 0.00 68 8 10.39 - - - TMEM38A 0 genome.wustl.edu 37 19 16798954 16798954 + Splice_Site SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 19 16798954 16798954 G T SNP TMEM38A ENST00000187762 human ensembl 69_37n +1 known splice_site c.673-1 e6-1 1.000 - - - no_errors TMEM38A HGNC ENSG00000072954 35 0 0.00 46 6 11.54 - - - TMEM67 0 genome.wustl.edu 37 8 94770765 94770765 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 8 94770765 94770765 G T SNP TMEM67 ENST00000453321 human ensembl 69_37n +1 known missense c.367 p.A123S 1.000 superfamily_Growth_fac_rcpt pfam_Meckelin,superfamily_Growth_fac_rcpt - no_errors TMEM67 HGNC ENSG00000164953 58 0 0.00 91 13 12.50 - - - TMPRSS9 0 genome.wustl.edu 37 19 2415770 2415770 + Missense_Mutation SNP C C T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 19 2415770 2415770 C T SNP TMPRSS9 ENST00000332578 human ensembl 69_37n +1 known missense c.1574 p.S525F 0.296 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC ENSG00000178297 20 0 0.00 16 4 20.00 - - - TRBV6-8 0 genome.wustl.edu 37 7 142124249 142124249 + Nonsense_Mutation SNP C C A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 7 142124249 142124249 C A SNP TRBV6-8 ENST00000390376 human ensembl 69_37n -1 known nonsense c.229 p.E77* 0.920 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 90 0 0.00 157 28 15.14 - - - ULK2 0 genome.wustl.edu 37 17 19728468 19728468 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 17 19728468 19728468 G T SNP ULK2 ENST00000361658 human ensembl 69_37n -1 known missense c.863 p.S288Y 0.871 superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 42 0 0.00 35 7 16.67 - - - USP40 0 genome.wustl.edu 37 2 234429703 234429703 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 2 234429703 234429703 G T SNP USP40 ENST00000450966 human ensembl 69_37n -1 known missense c.2292 p.H764Q 0.930 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP40 HGNC ENSG00000085982 120 0 0.00 191 22 10.33 - - - WDPCP 0 genome.wustl.edu 37 2 63631316 63631316 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 2 63631316 63631316 G T SNP WDPCP ENST00000272321 human ensembl 69_37n -1 known silent c.1302 p.A434 0.998 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 30 0 0.00 62 9 12.68 - - - WDR67 0 genome.wustl.edu 37 8 124154635 124154635 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 8 124154635 124154635 G T SNP WDR67 ENST00000287380 human ensembl 69_37n +1 known missense c.2774 p.R925M 0.073 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 54 0 0.00 51 9 15.00 - - - ZFHX4 0 genome.wustl.edu 37 8 77765961 77765961 + Silent SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 8 77765961 77765961 G T SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known silent c.6804 p.R2268 0.997 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 65 0 0.00 112 20 15.15 - - - ZNF554 0 genome.wustl.edu 37 19 2834252 2834252 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 19 2834252 2834252 G T SNP ZNF554 ENST00000317243 human ensembl 69_37n +1 known missense c.1019 p.S340I 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 ZNF554 HGNC ENSG00000172006 37 0 0.00 58 9 13.43 - - - ZNF791 0 genome.wustl.edu 37 19 12738936 12738936 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 19 12738936 12738936 G T SNP ZNF791 ENST00000343325 human ensembl 69_37n +1 known missense c.593 p.S198I 0.009 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 ZNF791 HGNC ENSG00000173875 65 0 0.00 100 13 11.40 - - - ZNFX1 0 genome.wustl.edu 37 20 47865238 47865238 + Silent SNP G G A TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5739a7e1-7fa3-434c-b1c3-c0a9e570c858 ad66f1d8-3521-4acf-a50f-76c6842df466 20 47865238 47865238 G A SNP ZNFX1 ENST00000371752 human ensembl 69_37n -1 known silent c.4323 p.C1441 0.268 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 30 0 0.00 41 9 17.31 - - -