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 ABCC8 0 genome.wustl.edu 37 11 17470166 17470166 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 11 17470166 17470166 C T SNP ABCC8 ENST00000302539 human ensembl 69_37n -1 known missense c.1229 p.G410E 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 92 0 0.00 104 59 36.20 - - - ABR 0 genome.wustl.edu 37 17 1012303 1012303 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 1012303 1012303 C T SNP ABR ENST00000291107 human ensembl 69_37n -1 known silent c.6 p.E2 0.987 NULL pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 17 0 0.00 9 4 30.77 - - - ADCY7 0 genome.wustl.edu 37 16 50326656 50326656 + Missense_Mutation SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 16 50326656 50326656 G C SNP ADCY7 ENST00000254235 human ensembl 69_37n +1 known missense c.607 p.D203H 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 32 0 0.00 37 21 36.21 - - - ADNP2 0 genome.wustl.edu 37 18 77895655 77895655 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 18 77895655 77895655 G A SNP ADNP2 ENST00000262198 human ensembl 69_37n +1 known missense c.2359 p.E787K 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 49 0 0.00 36 22 37.93 - - - ADRA2B 0 genome.wustl.edu 37 2 96781346 96781346 + Missense_Mutation SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 96781346 96781346 G C SNP ADRA2B ENST00000409345 human ensembl 69_37n -1 known missense c.543 p.F181L 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2B,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA2B HGNC ENSG00000222040 31 0 0.00 31 8 20.51 - - - ANGPTL2 0 genome.wustl.edu 37 9 129851266 129851266 + Silent SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 9 129851266 129851266 G C SNP ANGPTL2 ENST00000373425 human ensembl 69_37n -1 known silent c.1434 p.L478 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL2 HGNC ENSG00000136859 77 0 0.00 34 7 17.07 - - - ANKAR 0 genome.wustl.edu 37 2 190593522 190593522 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 190593522 190593522 C T SNP ANKAR ENST00000313581 human ensembl 69_37n +1 known silent c.3168 p.I1056 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 58 0 0.00 103 54 34.39 - - - AOC2 0 genome.wustl.edu 37 17 40997999 40997999 + Silent SNP A A T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 40997999 40997999 A T SNP AOC2 ENST00000253799 human ensembl 69_37n +1 known silent c.1356 p.S452 0.064 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 113 0 0.00 116 61 34.46 - - - AP2B1 0 genome.wustl.edu 37 17 34044241 34044241 + Missense_Mutation SNP A A G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 34044241 34044241 A G SNP AP2B1 ENST00000312678 human ensembl 69_37n +1 known missense c.2654 p.N885S 1.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP2B1 HGNC ENSG00000006125 90 0 0.00 92 59 39.07 - - - ARHGAP29 0 genome.wustl.edu 37 1 94668277 94668277 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 94668277 94668277 C G SNP ARHGAP29 ENST00000260526 human ensembl 69_37n -1 known missense c.966 p.E322D 0.983 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 117 0 0.00 65 97 59.88 - - - ARHGEF11 0 genome.wustl.edu 37 1 156915948 156915948 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 156915948 156915948 C T SNP ARHGEF11 ENST00000368194 human ensembl 69_37n -1 known missense c.2701 p.E901K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 15 0 0.00 25 7 21.88 - - - ATP8B2 0 genome.wustl.edu 37 1 154303324 154303324 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 154303324 154303324 C G SNP ATP8B2 ENST00000368489 human ensembl 69_37n +1 known missense c.223 p.L75V 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,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 ATP8B2 HGNC ENSG00000143515 76 0 0.00 107 47 30.52 - - - BDP1 0 genome.wustl.edu 37 5 70766232 70766233 + Frame_Shift_Ins INS - - T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 70766232 70766233 - T INS BDP1 ENST00000358731 human ensembl 69_37n +1 known frame_shift_ins c.930_931 p.L312fs 1.000:1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 105 0 0.00 94 59 38.56 - - - BRSK2 0 genome.wustl.edu 37 11 1466828 1466828 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 11 1466828 1466828 C T SNP BRSK2 ENST00000382179 human ensembl 69_37n +1 known silent c.1143 p.F381 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC ENSG00000174672 15 0 0.00 15 5 25.00 - - - C12orf36 0 genome.wustl.edu 37 12 13526234 13526234 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 13526234 13526234 C T SNP C12orf36 ENST00000318426 human ensembl 69_37n -1 known silent c.321 p.L107 0.000 NULL NULL - no_errors C12orf36 HGNC ENSG00000180861 115 0 0.00 149 103 40.87 - - - C1QTNF2 0 genome.wustl.edu 37 5 159776691 159776691 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 159776691 159776691 G A SNP C1QTNF2 ENST00000393975 human ensembl 69_37n -1 known silent c.477 p.N159 0.569 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 25 0 0.00 10 18 62.07 - - - C20orf173 0 genome.wustl.edu 37 20 34116299 34116299 + Nonsense_Mutation SNP G G T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 20 34116299 34116299 G T SNP C20orf173 ENST00000444723 human ensembl 69_37n -1 known nonsense c.563 p.S188* 0.994 NULL NULL - no_errors C20orf173 HGNC ENSG00000125975 67 0 0.00 133 49 26.92 - - - C21orf7 0 genome.wustl.edu 37 21 30464781 30464781 + Silent SNP A A G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 21 30464781 30464781 A G SNP C21orf7 ENST00000341618 human ensembl 69_37n +1 known silent c.249 p.A83 0.719 NULL NULL - no_errors C21orf7 HGNC ENSG00000156265 117 0 0.00 233 32 12.08 - - - CAPN3 0 genome.wustl.edu 37 15 42652049 42652049 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 15 42652049 42652049 G A SNP CAPN3 ENST00000397163 human ensembl 69_37n +1 known missense c.46 p.E16K 0.997 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN3 HGNC ENSG00000092529 67 0 0.00 39 21 35.00 - - - CCAR1 0 genome.wustl.edu 37 10 70482304 70482304 + Nonsense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 10 70482304 70482304 C T SNP CCAR1 ENST00000265872 human ensembl 69_37n +1 known nonsense c.43 p.Q15* 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 118 0 0.00 44 59 57.28 - - - CCDC42 0 genome.wustl.edu 37 17 8638833 8638833 + Nonsense_Mutation SNP C C A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 8638833 8638833 C A SNP CCDC42 ENST00000293845 human ensembl 69_37n -1 known nonsense c.589 p.E197* 0.923 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 43 0 0.00 27 21 43.75 - - - CCDC60 0 genome.wustl.edu 37 12 119942952 119942952 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 119942952 119942952 C T SNP CCDC60 ENST00000327554 human ensembl 69_37n +1 known missense c.727 p.R243W 0.821 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 24 0 0.00 16 13 44.83 - - - CCT7 0 genome.wustl.edu 37 2 73471840 73471840 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 73471840 73471840 C T SNP CCT7 ENST00000258091 human ensembl 69_37n +1 known silent c.615 p.L205 0.572 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 59 0 0.00 68 43 38.39 - - - CDH12 0 genome.wustl.edu 37 5 21975470 21975470 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 21975470 21975470 C T SNP CDH12 ENST00000382254 human ensembl 69_37n -1 known missense c.256 p.E86K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH12 HGNC ENSG00000154162 79 0 0.00 66 38 36.54 - - - CDKL3 0 genome.wustl.edu 37 5 133695701 133695701 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 133695701 133695701 C T SNP CDKL3 ENST00000265334 human ensembl 69_37n -1 known missense c.247 p.D83N 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL3 HGNC ENSG00000006837 115 0 0.00 131 39 22.94 - - - CHAF1A 0 genome.wustl.edu 37 19 4442293 4442293 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 19 4442293 4442293 G A SNP CHAF1A ENST00000301280 human ensembl 69_37n +1 known missense c.2725 p.E909K 1.000 NULL pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC ENSG00000167670 72 0 0.00 67 9 11.84 - - - CHRND 0 genome.wustl.edu 37 2 233399028 233399028 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 233399028 233399028 G A SNP CHRND ENST00000258385 human ensembl 69_37n +1 known missense c.1347 p.M449I 0.995 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 55 0 0.00 42 27 39.13 - - - CLMN 0 genome.wustl.edu 37 14 95669924 95669924 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 14 95669924 95669924 C T SNP CLMN ENST00000298912 human ensembl 69_37n -1 known missense c.1762 p.E588K 0.004 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 110 1 0.90 57 50 46.30 - - - CLN3 0 genome.wustl.edu 37 16 28498999 28498999 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 16 28498999 28498999 G A SNP CLN3 ENST00000359984 human ensembl 69_37n -1 known missense c.358 p.H120Y 1.000 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 49 0 0.00 60 28 31.82 - - - CNOT3 0 genome.wustl.edu 37 19 54659091 54659091 + Missense_Mutation SNP G G T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 19 54659091 54659091 G T SNP CNOT3 ENST00000221232 human ensembl 69_37n +1 known missense c.2208 p.K736N 1.000 pfam_NOT,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 32 0 0.00 26 8 23.53 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43853546 43853546 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 9 43853546 43853546 C T SNP CNTNAP3B ENST00000377561 human ensembl 69_37n +1 known missense c.1952 p.P651L 0.790 superfamily_Fibrinogen_a/b/g_C pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CNTNAP3B HGNC ENSG00000154529 20 0 0.00 7 4 36.36 - - - COL1A2 0 genome.wustl.edu 37 7 94053669 94053669 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 7 94053669 94053669 C T SNP COL1A2 ENST00000297268 human ensembl 69_37n +1 known missense c.2587 p.P863S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 113 0 0.00 166 74 30.83 - - - CYB5D2 0 genome.wustl.edu 37 17 4060161 4060161 + Nonsense_Mutation SNP G G T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 4060161 4060161 G T SNP CYB5D2 ENST00000301391 human ensembl 69_37n +1 known nonsense c.580 p.G194* 1.000 NULL pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors CYB5D2 HGNC ENSG00000167740 34 0 0.00 30 10 25.00 - - - DEPDC5 0 genome.wustl.edu 37 22 32257357 32257357 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 22 32257357 32257357 G A SNP DEPDC5 ENST00000400246 human ensembl 69_37n +1 known missense c.3268 p.G1090R 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 73 0 0.00 92 19 17.12 - - - DIS3 0 genome.wustl.edu 37 13 73351596 73351596 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 13 73351596 73351596 C T SNP DIS3 ENST00000377767 human ensembl 69_37n -1 known missense c.616 p.E206K 1.000 NULL pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R - no_errors DIS3 HGNC ENSG00000083520 131 0 0.00 262 45 14.66 - - - DMKN 0 genome.wustl.edu 37 19 36003351 36003351 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 19 36003351 36003351 G A SNP DMKN ENST00000339686 human ensembl 69_37n -1 known missense c.656 p.S219L 0.006 NULL NULL - no_errors DMKN HGNC ENSG00000161249 73 0 0.00 35 19 35.19 - - - DYRK2 0 genome.wustl.edu 37 12 68051050 68051050 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 68051050 68051050 G A SNP DYRK2 ENST00000344096 human ensembl 69_37n +1 known silent c.363 p.V121 0.056 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 DYRK2 HGNC ENSG00000127334 44 0 0.00 64 18 21.95 - - - EEF2 0 genome.wustl.edu 37 19 3980544 3980544 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 19 3980544 3980544 C T SNP EEF2 ENST00000309311 human ensembl 69_37n -1 known silent c.1314 p.K438 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 40 0 0.00 46 7 13.21 - - - EFCAB4B 0 genome.wustl.edu 37 12 3757680 3757680 + Nonstop_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 3757680 3757680 C G SNP EFCAB4B ENST00000333750 human ensembl 69_37n -1 known nonstop c.554 p.*185S 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EFCAB4B HGNC ENSG00000130038 20 0 0.00 13 6 31.58 - - - ELMO2 0 genome.wustl.edu 37 20 44999096 44999096 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 20 44999096 44999096 G A SNP ELMO2 ENST00000439931 human ensembl 69_37n -1 known silent c.1906 p.L636 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 134 0 0.00 319 49 13.32 - - - ERBB3 0 genome.wustl.edu 37 12 56489535 56489535 + Missense_Mutation SNP G G T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 56489535 56489535 G T SNP ERBB3 ENST00000267101 human ensembl 69_37n +1 known missense c.2000 p.R667L 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 104 0 0.00 107 50 31.85 - - - FAM186A 0 genome.wustl.edu 37 12 50754707 50754707 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 50754707 50754707 C T SNP FAM186A ENST00000327337 human ensembl 69_37n -1 known missense c.415 p.D139N 0.012 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 72 0 0.00 94 19 16.81 - - - FAT1 0 genome.wustl.edu 37 4 187541561 187541561 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 4 187541561 187541561 G A SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.6179 p.S2060F 0.915 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 66 0 0.00 37 42 53.16 - - - FGD4 0 genome.wustl.edu 37 12 32793219 32793219 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 32793219 32793219 G A SNP FGD4 ENST00000427716 human ensembl 69_37n +1 known missense c.2053 p.A685T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 36 0 0.00 36 32 46.38 - - - FLAD1 0 genome.wustl.edu 37 1 154961309 154961309 + Nonsense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 154961309 154961309 C G SNP FLAD1 ENST00000292180 human ensembl 69_37n +1 known nonsense c.1101 p.Y367* 0.970 pirsf_FAD_synth_Mopterin-bd pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd - no_errors FLAD1 HGNC ENSG00000160688 12 0 0.00 10 9 47.37 - - - FLG 0 genome.wustl.edu 37 1 152279012 152279012 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 152279012 152279012 C G SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.8350 p.D2784H 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 428 0 0.00 1037 276 21.02 - - - FOXP1 0 genome.wustl.edu 37 3 71026112 71026112 + Missense_Mutation SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 3 71026112 71026112 G C SNP FOXP1 ENST00000318789 human ensembl 69_37n -1 known missense c.1510 p.R504G 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 89 0 0.00 39 52 57.14 - - - FOXP3 0 genome.wustl.edu 37 X 49113997 49113997 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f X 49113997 49113997 C T SNP FOXP3 ENST00000376207 human ensembl 69_37n -1 known missense c.341 p.R114Q 0.981 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP3 HGNC ENSG00000049768 85 0 0.00 6 5 45.45 - - - G6PC 0 genome.wustl.edu 37 17 41053005 41053005 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 41053005 41053005 G A SNP G6PC ENST00000253801 human ensembl 69_37n +1 known missense c.112 p.D38N 1.000 superfamily_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC HGNC ENSG00000131482 67 0 0.00 76 55 41.67 - - - GDAP1L1 0 genome.wustl.edu 37 20 42885803 42885803 + Missense_Mutation SNP T T G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 20 42885803 42885803 T G SNP GDAP1L1 ENST00000342560 human ensembl 69_37n +1 known missense c.191 p.V64G 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1L1 HGNC ENSG00000124194 13 0 0.00 10 23 69.70 - - - GPR12 0 genome.wustl.edu 37 13 27333626 27333626 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 13 27333626 27333626 C T SNP GPR12 ENST00000381436 human ensembl 69_37n -1 known silent c.339 p.K113 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR12_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR12_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 34 0 0.00 16 27 62.79 - - - GRHL3 0 genome.wustl.edu 37 1 24657969 24657969 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 24657969 24657969 C G SNP GRHL3 ENST00000350501 human ensembl 69_37n +1 known missense c.71 p.S24C 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC ENSG00000158055 77 0 0.00 40 46 53.49 - - - HIATL1 0 genome.wustl.edu 37 9 97209196 97209197 + Frame_Shift_Ins INS - - T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 9 97209196 97209197 - T INS HIATL1 ENST00000375344 human ensembl 69_37n +1 known frame_shift_ins c.821_822 p.L277fs 1.000:1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIATL1 HGNC ENSG00000148110 123 0 0.00 78 74 48.68 - - - HIP1R 0 genome.wustl.edu 37 12 123333101 123333101 + Silent SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 123333101 123333101 C G SNP HIP1R ENST00000253083 human ensembl 69_37n +1 known silent c.246 p.L82 1.000 pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1R HGNC ENSG00000130787 37 0 0.00 56 9 13.85 - - - HIST1H3B 0 genome.wustl.edu 37 6 26032006 26032006 + Nonsense_Mutation SNP C C A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 6 26032006 26032006 C A SNP HIST1H3B ENST00000244661 human ensembl 69_37n -1 known nonsense c.283 p.E95* 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 41 0 0.00 81 20 19.80 - - - HS3ST4 0 genome.wustl.edu 37 16 26147270 26147270 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 16 26147270 26147270 G A SNP HS3ST4 ENST00000331351 human ensembl 69_37n +1 known missense c.1072 p.E358K 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST4 HGNC ENSG00000182601 38 0 0.00 66 8 10.81 - - - HYDIN 0 genome.wustl.edu 37 16 71098725 71098725 + Silent SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 16 71098725 71098725 G C SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known silent c.2094 p.L698 0.101 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 56 0 0.00 30 39 56.52 - - - IL7R 0 genome.wustl.edu 37 5 35857117 35857117 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 35857117 35857117 C G SNP IL7R ENST00000303115 human ensembl 69_37n +1 known missense c.38 p.S13C 0.998 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 247 0 0.00 446 113 20.21 - - - INSIG2 0 genome.wustl.edu 37 2 118864687 118864687 + Silent SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 118864687 118864687 C G SNP INSIG2 ENST00000245787 human ensembl 69_37n +1 known silent c.558 p.L186 0.995 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 141 0 0.00 137 72 34.45 - - - IQCA1 0 genome.wustl.edu 37 2 237308074 237308074 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 237308074 237308074 C T SNP IQCA1 ENST00000409907 human ensembl 69_37n -1 known missense c.1192 p.G398R 0.985 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 98 0 0.00 106 45 29.80 - - - IQCJ-SCHIP1 0 genome.wustl.edu 37 3 159605599 159605599 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 3 159605599 159605599 G A SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 69_37n +1 known missense c.1327 p.E443K 1.000 pfam_SCHIP_1 pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 54 0 0.00 65 32 32.65 - - - KCNA4 0 genome.wustl.edu 37 11 30032528 30032528 + Missense_Mutation SNP G G T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 11 30032528 30032528 G T SNP KCNA4 ENST00000328224 human ensembl 69_37n -1 known missense c.1698 p.F566L 1.000 NULL pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 45 0 0.00 79 19 19.39 - - - KIAA1704 0 genome.wustl.edu 37 13 45563856 45563856 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 13 45563856 45563856 G A SNP KIAA1704 ENST00000361121 human ensembl 69_37n +1 known missense c.67 p.E23K 1.000 NULL pfam_DUF3752 - no_errors KIAA1704 HGNC ENSG00000133114 15 0 0.00 3 5 62.50 - - - KIF16B 0 genome.wustl.edu 37 20 16496280 16496280 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 20 16496280 16496280 C T SNP KIF16B ENST00000408042 human ensembl 69_37n -1 known silent c.261 p.V87 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 81 0 0.00 104 54 34.18 - - - KIF6 0 genome.wustl.edu 37 6 39507966 39507966 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 6 39507966 39507966 C G SNP KIF6 ENST00000287152 human ensembl 69_37n -1 known missense c.1458 p.K486N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 71 0 0.00 72 22 23.40 - - - KLHL15 0 genome.wustl.edu 37 X 24024511 24024511 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f X 24024511 24024511 G A SNP KLHL15 ENST00000328046 human ensembl 69_37n -1 known silent c.300 p.T100 0.303 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 87 0 0.00 65 60 48.00 - - - LAMA2 0 genome.wustl.edu 37 6 129835646 129835646 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 6 129835646 129835646 C T SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known silent c.9117 p.L3039 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 39 0 0.00 61 36 37.11 - - - LDB2 0 genome.wustl.edu 37 4 16504411 16504411 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 4 16504411 16504411 G A SNP LDB2 ENST00000304523 human ensembl 69_37n -1 known missense c.977 p.T326M 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 112 0 0.00 45 79 63.71 - - - LPAR6 0 genome.wustl.edu 37 13 48985612 48985612 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 13 48985612 48985612 G A SNP LPAR6 ENST00000345941 human ensembl 69_37n -1 known silent c.948 p.F316 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y5_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors LPAR6 HGNC ENSG00000139679 40 0 0.00 43 12 21.43 - - - LRR1 0 genome.wustl.edu 37 14 50069163 50069163 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 14 50069163 50069163 C T SNP LRR1 ENST00000298288 human ensembl 69_37n +1 known missense c.259 p.P87S 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRR1 HGNC ENSG00000165501 103 0 0.00 46 72 61.02 - - - MORF4L1 0 genome.wustl.edu 37 15 79179664 79179664 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 15 79179664 79179664 C G SNP MORF4L1 ENST00000331268 human ensembl 69_37n +1 known missense c.413 p.S138C 0.992 pirsf_Hist_Nua4_cplx_EAF3/MRG15_su pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_Hist_Nua4_cplx_EAF3/MRG15_su - no_errors MORF4L1 HGNC ENSG00000185787 47 0 0.00 64 31 32.63 - - - MUC16 0 genome.wustl.edu 37 19 9059785 9059785 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 19 9059785 9059785 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.27661 p.E9221K 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 116 0 0.00 83 94 53.11 - - - MUC5B 0 genome.wustl.edu 37 11 1254384 1254384 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 11 1254384 1254384 C T SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.2216 p.A739V 0.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 22 0 0.00 14 7 33.33 - - - MUC7 0 genome.wustl.edu 37 4 71347020 71347020 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 4 71347020 71347020 G A SNP MUC7 ENST00000304887 human ensembl 69_37n +1 known missense c.559 p.E187K 0.000 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 343 0 0.00 210 201 48.79 - - - MUM1L1 0 genome.wustl.edu 37 X 105450345 105450345 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f X 105450345 105450345 C T SNP MUM1L1 ENST00000337685 human ensembl 69_37n +1 known missense c.920 p.A307V 0.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 23 0 0.00 18 18 50.00 - - - MYO5C 0 genome.wustl.edu 37 15 52529738 52529738 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 15 52529738 52529738 C T SNP MYO5C ENST00000261839 human ensembl 69_37n -1 known missense c.2809 p.A937T 0.050 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,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 MYO5C HGNC ENSG00000128833 243 0 0.00 319 203 38.74 - - - MYO7A 0 genome.wustl.edu 37 11 76893573 76893573 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 11 76893573 76893573 G A SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known missense c.3213 p.M1071I 1.000 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 33 0 0.00 125 14 10.07 - - - NEB 0 genome.wustl.edu 37 2 152544005 152544005 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 152544005 152544005 C G SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.2565 p.M855I 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 170 0 0.00 296 141 32.19 - - - NFIC 0 genome.wustl.edu 37 19 3456562 3456562 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 19 3456562 3456562 G A SNP NFIC ENST00000443272 human ensembl 69_37n +1 known missense c.1438 p.D480N 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC ENSG00000141905 62 0 0.00 36 4 10.00 - - - NLRP9 0 genome.wustl.edu 37 19 56243480 56243480 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 19 56243480 56243480 C T SNP NLRP9 ENST00000332836 human ensembl 69_37n -1 known missense c.1717 p.G573S 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 55 0 0.00 68 29 29.90 - - - NR3C1 0 genome.wustl.edu 37 5 142780154 142780154 + Missense_Mutation SNP A A C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 142780154 142780154 A C SNP NR3C1 ENST00000231509 human ensembl 69_37n -1 known missense c.251 p.L84R 1.000 pfam_Glcrtcd_rcpt,prints_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 44 0 0.00 54 31 36.47 - - - NUDT10 0 genome.wustl.edu 37 X 51075962 51075963 + Frame_Shift_Ins INS - - A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f X 51075962 51075963 - A INS NUDT10 ENST00000356450 human ensembl 69_37n +1 known frame_shift_ins c.145_146 p.G49fs 1.000:1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 66 0 0.00 31 4 11.43 - - - OBSCN 0 genome.wustl.edu 37 1 228538601 228538601 + Nonsense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 228538601 228538601 C T SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known nonsense c.18376 p.Q6126* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 36 0 0.00 17 11 39.29 - - - ORC3 0 genome.wustl.edu 37 6 88372852 88372852 + Missense_Mutation SNP A A G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 6 88372852 88372852 A G SNP ORC3 ENST00000257789 human ensembl 69_37n +1 known missense c.1826 p.Y609C 1.000 NULL pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 45 0 0.00 43 34 44.16 - - - OTUD4 0 genome.wustl.edu 37 4 146067547 146067547 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 4 146067547 146067547 G A SNP OTUD4 ENST00000447906 human ensembl 69_37n -1 known missense c.1294 p.H432Y 0.989 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 107 0 0.00 24 43 64.18 - - - OXCT2 0 genome.wustl.edu 37 1 40235448 40235448 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 40235448 40235448 C T SNP OXCT2 ENST00000327582 human ensembl 69_37n -1 known missense c.1480 p.D494N 0.171 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 24 0 0.00 33 13 28.26 - - - PDGFB 0 genome.wustl.edu 37 22 39636860 39636860 + Silent SNP G G T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 22 39636860 39636860 G T SNP PDGFB ENST00000381551 human ensembl 69_37n -1 known silent c.18 p.L6 0.001 NULL pfam_PD_growth_factor,pfam_PDGF_N,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors PDGFB HGNC ENSG00000100311 68 0 0.00 22 22 50.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 45 0 0.00 81 47 36.72 - - - PKHD1L1 0 genome.wustl.edu 37 8 110487470 110487470 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 8 110487470 110487470 C T SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.8729 p.S2910L 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 77 0 0.00 99 40 28.78 - - - PMFBP1 0 genome.wustl.edu 37 16 72159902 72159902 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 16 72159902 72159902 C T SNP PMFBP1 ENST00000537465 human ensembl 69_37n -1 known missense c.2233 p.A745T 0.000 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 90 0 0.00 55 35 32.11 - - - POLM 0 genome.wustl.edu 37 7 44118410 44118410 + Nonsense_Mutation SNP C C A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 7 44118410 44118410 C A SNP POLM ENST00000242248 human ensembl 69_37n -1 known nonsense c.643 p.E215* 1.000 superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,prints_DNA_pol_X_beta-like pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 72 0 0.00 21 40 65.57 - - - PPME1 0 genome.wustl.edu 37 11 73882561 73882561 + Missense_Mutation SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 11 73882561 73882561 G C SNP PPME1 ENST00000328257 human ensembl 69_37n +1 known missense c.95 p.R32P 1.000 pirsf_PPase_methylesterase_euk pirsf_PPase_methylesterase_euk - no_errors PPME1 HGNC ENSG00000214517 14 0 0.00 5 9 64.29 - - - PRUNE2 0 genome.wustl.edu 37 9 79465476 79465476 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 9 79465476 79465476 C T SNP PRUNE2 ENST00000376718 human ensembl 69_37n -1 novel missense c.247 p.E83K 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 95 0 0.00 96 37 27.82 - - - PTEN 0 genome.wustl.edu 37 10 89653845 89653845 + Missense_Mutation SNP A A T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 10 89653845 89653845 A T SNP PTEN ENST00000371953 human ensembl 69_37n +1 known missense c.143 p.N48I 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 94 0 0.00 47 79 62.70 - - - PTPRD 0 genome.wustl.edu 37 9 8465571 8465571 + Missense_Mutation SNP G G T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 9 8465571 8465571 G T SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known missense c.3609 p.F1203L 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 105 0 0.00 48 58 54.72 - - - PTRF 0 genome.wustl.edu 37 17 40556818 40556818 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 40556818 40556818 C G SNP PTRF ENST00000357037 human ensembl 69_37n -1 known missense c.1060 p.E354Q 0.993 NULL NULL - no_errors PTRF HGNC ENSG00000177469 13 0 0.00 6 4 40.00 - - - RAB7L1 0 genome.wustl.edu 37 1 205739909 205739909 + Nonsense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 205739909 205739909 C T SNP RAB7L1 ENST00000235932 human ensembl 69_37n -1 known nonsense c.452 p.W151* 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB7L1 HGNC ENSG00000117280 126 0 0.00 134 64 32.32 - - - RASGRF2 0 genome.wustl.edu 37 5 80382663 80382663 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 80382663 80382663 C T SNP RASGRF2 ENST00000265080 human ensembl 69_37n +1 known silent c.1281 p.H427 0.894 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 75 0 0.00 80 48 37.50 - - - RNH1 0 genome.wustl.edu 37 11 499131 499131 + Nonsense_Mutation SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 11 499131 499131 G C SNP RNH1 ENST00000529115 human ensembl 69_37n -1 known nonsense c.422 p.S141* 0.995 NULL NULL - no_errors RNH1 HGNC ENSG00000023191 16 0 0.00 15 9 37.50 - - - RUFY1 0 genome.wustl.edu 37 5 179020635 179020635 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 179020635 179020635 C T SNP RUFY1 ENST00000319449 human ensembl 69_37n +1 known missense c.1402 p.H468Y 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC ENSG00000176783 86 0 0.00 88 54 38.03 - - - SATB2 0 genome.wustl.edu 37 2 200173524 200173524 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 200173524 200173524 G A SNP SATB2 ENST00000260926 human ensembl 69_37n -1 known missense c.1699 p.R567C 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 43 0 0.00 41 29 41.43 - - - SCAF4 0 genome.wustl.edu 37 21 33044075 33044075 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 21 33044075 33044075 G A SNP SCAF4 ENST00000286835 human ensembl 69_37n -1 known silent c.3081 p.N1027 0.003 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 91 0 0.00 135 63 31.82 - - - SCGB1C1 0 genome.wustl.edu 37 11 193718 193718 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 11 193718 193718 C T SNP SCGB1C1 ENST00000342878 human ensembl 69_37n +1 known missense c.62 p.A21V 0.146 pfam_Uteroglobin-like_superfam pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin - no_errors SCGB1C1 HGNC ENSG00000188076 49 0 0.00 27 9 25.00 - - - SEC16A 0 genome.wustl.edu 37 9 139357443 139357443 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 9 139357443 139357443 C T SNP SEC16A ENST00000313050 human ensembl 69_37n -1 known missense c.4789 p.E1597K 0.994 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 20 0 0.00 19 11 36.67 - - - SEPP1 0 genome.wustl.edu 37 5 42801110 42801110 + Silent SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 42801110 42801110 G C SNP SEPP1 ENST00000506577 human ensembl 69_37n -1 known silent c.858 p.L286 0.936 pfam_SelP_C pfam_Selenoprotein-P_N,pfam_SelP_C - pseudogene SEPP1 HGNC ENSG00000250722 58 0 0.00 104 32 23.53 - - - SETDB1 0 genome.wustl.edu 37 1 150931666 150931667 + Frame_Shift_Ins INS - - A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 150931666 150931667 - A INS SETDB1 ENST00000271640 human ensembl 69_37n +1 known frame_shift_ins c.2343_2344 p.N781fs 1.000:1.000 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 85 0 0.00 110 67 37.85 - - - SH3RF1 0 genome.wustl.edu 37 4 170057685 170057685 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 4 170057685 170057685 G A SNP SH3RF1 ENST00000511421 human ensembl 69_37n -1 known missense c.437 p.P146L 0.998 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SH3RF1 HGNC ENSG00000154447 139 0 0.00 77 109 58.60 - - - SHROOM2 0 genome.wustl.edu 37 X 9900268 9900268 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f X 9900268 9900268 C T SNP SHROOM2 ENST00000380913 human ensembl 69_37n +1 known missense c.2945 p.P982L 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 45 0 0.00 50 31 38.27 - - - SIX1 0 genome.wustl.edu 37 14 61115628 61115628 + Nonsense_Mutation SNP C C A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 14 61115628 61115628 C A SNP SIX1 ENST00000247182 human ensembl 69_37n -1 known nonsense c.280 p.E94* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX1 HGNC ENSG00000126778 24 0 0.00 12 21 63.64 - - - SLC25A24 0 genome.wustl.edu 37 1 108742651 108742651 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 1 108742651 108742651 C G SNP SLC25A24 ENST00000565488 human ensembl 69_37n -1 known missense c.110 p.G37A 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 14 0 0.00 11 5 31.25 - - - SLC35B2 0 genome.wustl.edu 37 6 44222443 44222443 + Nonstop_Mutation SNP T T C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 6 44222443 44222443 T C SNP SLC35B2 ENST00000393812 human ensembl 69_37n -1 known nonstop c.1299 p.*433W 0.888 NULL pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 60 0 0.00 58 30 34.09 - - - SLC6A12 0 genome.wustl.edu 37 12 313734 313734 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 313734 313734 G A SNP SLC6A12 ENST00000535347 human ensembl 69_37n -1 putative missense c.227 p.S76F 0.999 NULL NULL - no_stop_codon SLC6A12 HGNC ENSG00000111181 21 0 0.00 20 10 33.33 - - - SSFA2 0 genome.wustl.edu 37 2 182794293 182794293 + Silent SNP C C A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 182794293 182794293 C A SNP SSFA2 ENST00000320370 human ensembl 69_37n +1 known silent c.3681 p.G1227 0.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 182 1 0.55 236 129 35.34 - - - STAB2 0 genome.wustl.edu 37 12 104140458 104140458 + Nonsense_Mutation SNP G G T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 104140458 104140458 G T SNP STAB2 ENST00000388887 human ensembl 69_37n +1 known nonsense c.6220 p.E2074* 0.926 smart_EGF-like pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 54 0 0.00 104 60 36.59 - - - STX8 0 genome.wustl.edu 37 17 9408460 9408460 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 9408460 9408460 C G SNP STX8 ENST00000306357 human ensembl 69_37n -1 known missense c.343 p.E115Q 0.831 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC ENSG00000170310 61 0 0.00 32 36 52.94 - - - TAF1L 0 genome.wustl.edu 37 9 32632676 32632676 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 9 32632676 32632676 C G SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.2902 p.E968Q 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 102 0 0.00 168 20 10.64 - - - TBCEL 0 genome.wustl.edu 37 11 120929104 120929104 + Missense_Mutation SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 11 120929104 120929104 G C SNP TBCEL ENST00000422003 human ensembl 69_37n +1 known missense c.763 p.E255Q 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 74 0 0.00 96 46 32.39 - - - TEPP 0 genome.wustl.edu 37 16 58018668 58018668 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 16 58018668 58018668 C T SNP TEPP ENST00000290871 human ensembl 69_37n +1 known silent c.579 p.F193 0.032 NULL NULL - no_errors TEPP HGNC ENSG00000159648 25 0 0.00 15 8 34.78 - - - TIAL1 0 genome.wustl.edu 37 10 121337005 121337005 + Missense_Mutation SNP A A C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 10 121337005 121337005 A C SNP TIAL1 ENST00000369093 human ensembl 69_37n -1 known missense c.746 p.M249R 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 52 0 0.00 35 50 58.82 - - - TLE3 0 genome.wustl.edu 37 15 70347638 70347638 + Splice_Site SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 15 70347638 70347638 C G SNP TLE3 ENST00000558939 human ensembl 69_37n -1 known splice_site c.1338-1 e15-1 1.000 - - - no_errors TLE3 HGNC ENSG00000140332 26 0 0.00 24 9 27.27 - - - TMC8 0 genome.wustl.edu 37 17 76133392 76133392 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 76133392 76133392 G A SNP TMC8 ENST00000318430 human ensembl 69_37n +1 known missense c.1204 p.D402N 0.880 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 64 0 0.00 121 16 11.59 - - - TMEM233 0 genome.wustl.edu 37 12 120031720 120031720 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 120031720 120031720 G A SNP TMEM233 ENST00000426426 human ensembl 69_37n +1 known missense c.67 p.E23K 0.998 NULL pfam_Interferon-induced_TM_protein - no_errors TMEM233 HGNC ENSG00000224982 104 0 0.00 215 93 30.19 - - - TMEM248 0 genome.wustl.edu 37 7 66410096 66410096 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 7 66410096 66410096 C T SNP TMEM248 ENST00000341567 human ensembl 69_37n +1 known missense c.293 p.T98I 1.000 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 31 0 0.00 56 25 30.49 - - - TMTC2 0 genome.wustl.edu 37 12 83359365 83359365 + Missense_Mutation SNP C C G TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 12 83359365 83359365 C G SNP TMTC2 ENST00000321196 human ensembl 69_37n +1 known missense c.1711 p.L571V 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 59 0 0.00 93 12 11.43 - - - TNXB 0 genome.wustl.edu 37 6 32065667 32065667 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 6 32065667 32065667 C T SNP TNXB ENST00000375247 human ensembl 69_37n -1 known silent c.309 p.L103 0.999 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 33 0 0.00 32 7 17.95 - - - TRPM8 0 genome.wustl.edu 37 2 234858761 234858761 + Missense_Mutation SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 234858761 234858761 G C SNP TRPM8 ENST00000324695 human ensembl 69_37n +1 known missense c.1111 p.E371Q 0.994 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 49 0 0.00 38 6 13.64 - - - TTN 0 genome.wustl.edu 37 2 179426695 179426695 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 179426695 179426695 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.76460 p.R25487K 0.869 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 26 0 0.00 34 15 30.61 - - - UBR3 0 genome.wustl.edu 37 2 170863687 170863687 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 170863687 170863687 C T SNP UBR3 ENST00000272793 human ensembl 69_37n +1 known missense c.4217 p.P1406L 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 50 0 0.00 63 37 37.00 - - - UNC13C 0 genome.wustl.edu 37 15 54586231 54586231 + Missense_Mutation SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 15 54586231 54586231 G C SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known missense c.3957 p.L1319F 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 117 0 0.00 148 79 34.80 - - - VTN 0 genome.wustl.edu 37 17 26697169 26697169 + Missense_Mutation SNP G G T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 17 26697169 26697169 G T SNP VTN ENST00000226218 human ensembl 69_37n -1 known missense c.56 p.A19D 0.998 prints_Somatomedin_B_chordata pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000255604 111 0 0.00 66 41 38.32 - - - WDFY3 0 genome.wustl.edu 37 4 85678260 85678260 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 4 85678260 85678260 C T SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known missense c.5243 p.R1748Q 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 70 0 0.00 63 14 17.95 - - - ZHX2 0 genome.wustl.edu 37 8 123965814 123965814 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 8 123965814 123965814 G A SNP ZHX2 ENST00000314393 human ensembl 69_37n +1 known silent c.2064 p.V688 0.001 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 49 0 0.00 60 51 45.95 - - - ZNF142 0 genome.wustl.edu 37 2 219508614 219508614 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 2 219508614 219508614 G A SNP ZNF142 ENST00000411696 human ensembl 69_37n -1 known silent c.2625 p.F875 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 46 0 0.00 29 8 21.62 - - - ZNF469 0 genome.wustl.edu 37 16 88497563 88497563 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 16 88497563 88497563 G A SNP ZNF469 ENST00000437464 human ensembl 69_37n +1 known missense c.3601 p.E1201K 0.008 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 20 0 0.00 5 11 68.75 - - - ZNF502 0 genome.wustl.edu 37 3 44763099 44763099 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 3 44763099 44763099 G A SNP ZNF502 ENST00000296091 human ensembl 69_37n +1 known missense c.790 p.E264K 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ENSG00000196653 42 0 0.00 72 10 12.20 - - - ZNF829 0 genome.wustl.edu 37 19 37382578 37382578 + Missense_Mutation SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 19 37382578 37382578 C T SNP ZNF829 ENST00000520965 human ensembl 69_37n -1 known missense c.1358 p.R453K 1.000 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 ZNF829 HGNC ENSG00000185869 101 0 0.00 191 99 34.14 - - - ZSWIM6 0 genome.wustl.edu 37 5 60822199 60822199 + Missense_Mutation SNP G G C TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 030cfc8a-7b43-4d73-8bfa-b68a47749e49 05c094da-381f-4c2d-bec1-aa0259f7793f 5 60822199 60822199 G C SNP ZSWIM6 ENST00000252744 human ensembl 69_37n +1 known missense c.1813 p.E605Q 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 74 0 0.00 117 39 25.00 - - -