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 ADAM7 0 genome.wustl.edu 37 8 24300020 24300020 + Silent SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 8 24300020 24300020 G C SNP ADAM7 ENST00000175238 human ensembl 69_37n +1 known silent c.87 p.L29 0.886 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 242 0 0.00 280 55 16.37 - - - ALDH3B1 0 genome.wustl.edu 37 11 67786655 67786655 + RNA SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 11 67786655 67786655 G A SNP ALDH3B1 ENST00000007633 human ensembl 69_37n +1 known rna NULL NULL 0.999 - - - no_errors ALDH3B1 HGNC ENSG00000006534 70 0 0.00 98 16 14.04 - - - ARL6IP6 0 genome.wustl.edu 37 2 153575347 153575347 + Missense_Mutation SNP G G T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 2 153575347 153575347 G T SNP ARL6IP6 ENST00000326446 human ensembl 69_37n +1 known missense c.209 p.R70L 0.000 NULL NULL - no_errors ARL6IP6 HGNC ENSG00000177917 34 0 0.00 37 8 17.78 - - - BAI1 0 genome.wustl.edu 37 8 143546131 143546131 + Missense_Mutation SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 8 143546131 143546131 G A SNP BAI1 ENST00000323289 human ensembl 69_37n +1 known missense c.572 p.R191H 1.000 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 16 0 0.00 12 7 36.84 - - - C2CD3 0 genome.wustl.edu 37 11 73809103 73809103 + Missense_Mutation SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 11 73809103 73809103 G C SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known missense c.2930 p.P977R 0.008 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 192 0 0.00 173 47 21.36 - - - C3orf27 0 genome.wustl.edu 37 3 128292138 128292138 + Silent SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 3 128292138 128292138 G A SNP C3orf27 ENST00000356020 human ensembl 69_37n -1 known silent c.435 p.F145 0.000 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 31 0 0.00 34 6 15.00 - - - CA2 0 genome.wustl.edu 37 8 86389385 86389385 + Missense_Mutation SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 8 86389385 86389385 G C SNP CA2 ENST00000285379 human ensembl 69_37n +1 known missense c.544 p.G182R 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 255 0 0.00 241 114 32.11 - - - CASP6 0 genome.wustl.edu 37 4 110610542 110610542 + Missense_Mutation SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 4 110610542 110610542 G A SNP CASP6 ENST00000265164 human ensembl 69_37n -1 known missense c.826 p.P276S 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP6 HGNC ENSG00000138794 151 0 0.00 95 16 14.41 - - - CCDC129 0 genome.wustl.edu 37 7 31690768 31690768 + Missense_Mutation SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 7 31690768 31690768 G C SNP CCDC129 ENST00000451887 human ensembl 69_37n +1 known missense c.2674 p.E892Q 0.902 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 157 0 0.00 90 65 41.94 - - - CDC42BPG 0 genome.wustl.edu 37 11 64597720 64597720 + Nonsense_Mutation SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 11 64597720 64597720 G A SNP CDC42BPG ENST00000342711 human ensembl 69_37n -1 known nonsense c.3313 p.R1105* 0.998 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_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,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 134 0 0.00 165 42 20.29 - - - CENPQ 0 genome.wustl.edu 37 6 49438722 49438722 + Silent SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 6 49438722 49438722 G C SNP CENPQ ENST00000335783 human ensembl 69_37n +1 known silent c.138 p.L46 0.005 NULL NULL - no_errors CENPQ HGNC ENSG00000031691 124 0 0.00 65 17 20.73 - - - CHST3 0 genome.wustl.edu 37 10 73767170 73767170 + Silent SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 10 73767170 73767170 C A SNP CHST3 ENST00000373115 human ensembl 69_37n +1 known silent c.381 p.A127 0.000 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 23 0 0.00 29 7 19.44 - - - CNTN1 0 genome.wustl.edu 37 12 41337930 41337930 + Silent SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 12 41337930 41337930 C A SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known silent c.1641 p.I547 0.296 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 248 0 0.00 148 47 24.10 - - - COIL 0 genome.wustl.edu 37 17 55028115 55028116 + Frame_Shift_Del DEL TT TT - TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 17 55028115 55028116 TT - DEL COIL ENST00000240316 human ensembl 69_37n -1 known frame_shift_del c.488_487 p.K163fs 0.841:0.831 NULL NULL - no_errors COIL HGNC ENSG00000121058 541 0 0.00 353 70 15.98 - - - COL6A5 0 genome.wustl.edu 37 3 130116760 130116760 + Missense_Mutation SNP G G T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 3 130116760 130116760 G T SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.3902 p.R1301L 0.079 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 286 0 0.00 168 53 23.98 - - - COL7A1 0 genome.wustl.edu 37 3 48627949 48627949 + Missense_Mutation SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 3 48627949 48627949 C A SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known missense c.1849 p.A617S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 148 1 0.67 96 56 36.60 - - - CUL1 0 genome.wustl.edu 37 7 148454195 148454195 + Missense_Mutation SNP C C T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 7 148454195 148454195 C T SNP CUL1 ENST00000325222 human ensembl 69_37n +1 known missense c.436 p.R146C 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 295 0 0.00 248 72 22.50 - - - CUL9 0 genome.wustl.edu 37 6 43188323 43188323 + Missense_Mutation SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 6 43188323 43188323 G C SNP CUL9 ENST00000252050 human ensembl 69_37n +1 known missense c.6409 p.E2137Q 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 117 0 0.00 89 29 24.58 - - - DARS 0 genome.wustl.edu 37 2 136700974 136700974 + Nonsense_Mutation SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 2 136700974 136700974 G A SNP DARS ENST00000264161 human ensembl 69_37n -1 known nonsense c.397 p.Q133* 1.000 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Asp-tRNA-synth_arc/euk pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asp-tRNA-synth_arc/euk - no_errors DARS HGNC ENSG00000115866 372 0 0.00 264 74 21.89 - - - DARS 0 genome.wustl.edu 37 2 136700975 136700975 + Missense_Mutation SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 2 136700975 136700975 C A SNP DARS ENST00000264161 human ensembl 69_37n -1 known missense c.396 p.Q132H 1.000 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Asp-tRNA-synth_arc/euk pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asp-tRNA-synth_arc/euk - no_errors DARS HGNC ENSG00000115866 372 0 0.00 267 74 21.70 - - - DCLK1 0 genome.wustl.edu 37 13 36348770 36348770 + Missense_Mutation SNP A A T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 13 36348770 36348770 A T SNP DCLK1 ENST00000360631 human ensembl 69_37n -1 known missense c.2125 p.Y709N 0.900 NULL pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC ENSG00000133083 115 0 0.00 72 39 35.14 - - - EPAS1 0 genome.wustl.edu 37 2 46587815 46587815 + Missense_Mutation SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 2 46587815 46587815 G C SNP EPAS1 ENST00000263734 human ensembl 69_37n +1 known missense c.493 p.E165Q 0.999 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 83 0 0.00 63 22 25.88 - - - FAM208B 0 genome.wustl.edu 37 10 5789754 5789754 + Missense_Mutation SNP G G T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 10 5789754 5789754 G T SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known missense c.4370 p.G1457V 0.004 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 109 0 0.00 116 44 27.50 - - - HCN3 0 genome.wustl.edu 37 1 155255046 155255046 + Missense_Mutation SNP G G T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 1 155255046 155255046 G T SNP HCN3 ENST00000368358 human ensembl 69_37n +1 known missense c.1180 p.G394C 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 67 0 0.00 109 22 16.79 - - - HIST1H1B 0 genome.wustl.edu 37 6 27834744 27834744 + Missense_Mutation SNP C C G TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 6 27834744 27834744 C G SNP HIST1H1B ENST00000331442 human ensembl 69_37n -1 known missense c.564 p.K188N 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 157 0 0.00 92 29 23.97 - - - ITGB4 0 genome.wustl.edu 37 17 73748569 73748569 + Missense_Mutation SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 17 73748569 73748569 G A SNP ITGB4 ENST00000200181 human ensembl 69_37n +1 known missense c.4019 p.G1340E 1.000 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 49 0 0.00 30 23 42.59 - - - IWS1 0 genome.wustl.edu 37 2 128250923 128250923 + Silent SNP T T G TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 2 128250923 128250923 T G SNP IWS1 ENST00000295321 human ensembl 69_37n -1 known silent c.1863 p.S621 0.935 superfamily_TFIIS_N pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 117 1 0.85 103 23 18.25 - - - KCNH2 0 genome.wustl.edu 37 7 150645546 150645546 + Missense_Mutation SNP C C T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 7 150645546 150645546 C T SNP KCNH2 ENST00000262186 human ensembl 69_37n -1 known missense c.2678 p.R893K 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 42 0 0.00 41 17 28.81 - - - KCNQ3 0 genome.wustl.edu 37 8 133182583 133182583 + Silent SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 8 133182583 133182583 G A SNP KCNQ3 ENST00000388996 human ensembl 69_37n -1 known silent c.1233 p.F411 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 74 0 0.00 57 28 32.56 - - - KIAA1804 0 genome.wustl.edu 37 1 233482294 233482294 + Silent SNP A A G TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 1 233482294 233482294 A G SNP KIAA1804 ENST00000366624 human ensembl 69_37n +1 known silent c.912 p.T304 0.357 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors RP5-862P8.2 Clone_based_vega_gene ENSG00000143674 194 0 0.00 120 36 23.08 - - - KIF1B 0 genome.wustl.edu 37 1 10364067 10364067 + Missense_Mutation SNP C C T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 1 10364067 10364067 C T SNP KIF1B ENST00000377083 human ensembl 69_37n +1 known missense c.2824 p.R942C 0.998 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 118 0 0.00 75 47 38.52 - - - LYG1 0 genome.wustl.edu 37 2 99907849 99907849 + Missense_Mutation SNP T T C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 2 99907849 99907849 T C SNP LYG1 ENST00000308528 human ensembl 69_37n -1 known missense c.184 p.M62V 0.996 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC ENSG00000144214 240 0 0.00 226 69 23.39 - - - MARCH5 0 genome.wustl.edu 37 10 94110927 94110927 + Missense_Mutation SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 10 94110927 94110927 G A SNP MARCH5 ENST00000358935 human ensembl 69_37n +1 known missense c.800 p.R267H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 204 2 0.97 218 30 12.00 - - - MIR612 0 genome.wustl.edu 37 11 65211932 65211932 + RNA SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 11 65211932 65211932 C A SNP MIR612 ENST00000384994 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors MIR612 HGNC ENSG00000207727 86 0 0.00 78 29 27.10 - - - NKX6-2 0 genome.wustl.edu 37 10 134598422 134598422 + Nonstop_Mutation SNP A A G TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 10 134598422 134598422 A G SNP NKX6-2 ENST00000368592 human ensembl 69_37n -1 known nonstop c.832 p.*278R 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors NKX6-2 HGNC ENSG00000148826 70 0 0.00 82 14 14.43 - - - NRK 0 genome.wustl.edu 37 X 105152799 105152799 + Missense_Mutation SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 X 105152799 105152799 C A SNP NRK ENST00000428173 human ensembl 69_37n +1 known missense c.1169 p.P390H 0.255 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 64 0 0.00 46 18 28.12 - - - ODZ1 0 genome.wustl.edu 37 X 123556236 123556236 + Missense_Mutation SNP C C T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 X 123556236 123556236 C T SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.4357 p.E1453K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 141 0 0.00 117 22 15.83 - - - PKHD1L1 0 genome.wustl.edu 37 8 110461681 110461681 + Missense_Mutation SNP A A C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 8 110461681 110461681 A C SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.6140 p.Y2047S 0.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt 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 234 0 0.00 179 27 13.11 - - - PNPLA7 0 genome.wustl.edu 37 9 140400143 140400143 + Missense_Mutation SNP C C T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 9 140400143 140400143 C T SNP PNPLA7 ENST00000406427 human ensembl 69_37n -1 known missense c.1396 p.E466K 0.677 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 163 0 0.00 81 76 48.10 - - - SEPT1 0 genome.wustl.edu 37 16 30392785 30392785 + Missense_Mutation SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 16 30392785 30392785 C A SNP SEPT1 ENST00000572252 human ensembl 69_37n -1 known missense c.206 p.R69L 0.001 NULL pfam_Cell_div_GTP-bd - no_errors SEPT1 HGNC ENSG00000180096 113 0 0.00 111 34 23.29 - - - SHANK2 0 genome.wustl.edu 37 11 70338443 70338443 + Nonsense_Mutation SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 11 70338443 70338443 C A SNP SHANK2 ENST00000412252 human ensembl 69_37n -1 novel nonsense c.667 p.E223* 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SHANK2 HGNC ENSG00000162105 22 0 0.00 19 15 44.12 - - - SIGLEC8 0 genome.wustl.edu 37 19 51961309 51961309 + Missense_Mutation SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 19 51961309 51961309 G C SNP SIGLEC8 ENST00000321424 human ensembl 69_37n -1 known missense c.333 p.I111M 0.077 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC ENSG00000105366 350 0 0.00 205 160 43.84 - - - SLC1A4 0 genome.wustl.edu 37 2 65217239 65217239 + Silent SNP G G T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 2 65217239 65217239 G T SNP SLC1A4 ENST00000234256 human ensembl 69_37n +1 known silent c.462 p.G154 0.736 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A4 HGNC ENSG00000115902 41 0 0.00 9 10 52.63 - - - TANC1 0 genome.wustl.edu 37 2 160006902 160006902 + Missense_Mutation SNP A A C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 2 160006902 160006902 A C SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known missense c.517 p.I173L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 114 0 0.00 103 22 17.60 - - - TNN 0 genome.wustl.edu 37 1 175046741 175046741 + Missense_Mutation SNP C C G TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 1 175046741 175046741 C G SNP TNN ENST00000239462 human ensembl 69_37n +1 known missense c.187 p.Q63E 0.001 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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 40 0 0.00 57 15 20.83 - - - TOPBP1 0 genome.wustl.edu 37 3 133347430 133347430 + Missense_Mutation SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 3 133347430 133347430 G C SNP TOPBP1 ENST00000260810 human ensembl 69_37n -1 known missense c.2668 p.Q890E 0.996 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 253 0 0.00 176 48 21.33 - - - TRIM14 0 genome.wustl.edu 37 9 100862335 100862335 + Missense_Mutation SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 9 100862335 100862335 G A SNP TRIM14 ENST00000341469 human ensembl 69_37n -1 known missense c.415 p.L139F 0.601 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM14 HGNC ENSG00000106785 337 0 0.00 212 67 24.01 - - - TRPC5 0 genome.wustl.edu 37 X 111097215 111097215 + Silent SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 X 111097215 111097215 C A SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known silent c.1020 p.L340 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 130 0 0.00 114 40 25.97 - - - TYW3 0 genome.wustl.edu 37 1 75229641 75229641 + Missense_Mutation SNP C C G TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 1 75229641 75229641 C G SNP TYW3 ENST00000370867 human ensembl 69_37n +1 known missense c.624 p.I208M 0.052 NULL pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising - no_errors TYW3 HGNC ENSG00000162623 175 0 0.00 77 44 36.36 - - - UNC119B 0 genome.wustl.edu 37 12 121148295 121148295 + Silent SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 12 121148295 121148295 G A SNP UNC119B ENST00000344651 human ensembl 69_37n +1 known silent c.18 p.P6 0.836 NULL pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors UNC119B HGNC ENSG00000175970 12 0 0.00 10 9 47.37 - - - VPS45 0 genome.wustl.edu 37 1 150054883 150054883 + Silent SNP A A C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 1 150054883 150054883 A C SNP VPS45 ENST00000369130 human ensembl 69_37n +1 known silent c.1020 p.R340 0.998 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 254 0 0.00 347 51 12.78 - - - WBSCR22 0 genome.wustl.edu 37 7 73100970 73100970 + Silent SNP C C A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 7 73100970 73100970 C A SNP WBSCR22 ENST00000265758 human ensembl 69_37n +1 known silent c.91 p.R31 0.991 NULL pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11 - no_errors WBSCR22 HGNC ENSG00000071462 354 0 0.00 241 78 24.45 - - - ZNF611 0 genome.wustl.edu 37 19 53208630 53208630 + Missense_Mutation SNP G G C TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 19 53208630 53208630 G C SNP ZNF611 ENST00000319783 human ensembl 69_37n -1 known missense c.1678 p.H560D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 271 1 0.37 193 125 39.31 - - - ZNF665 0 genome.wustl.edu 37 19 53668314 53668314 + Missense_Mutation SNP G G A TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f961c932-cf37-47c8-8520-8d0d444dc94f d486a6d4-f7b9-4df1-b14f-df434c457363 19 53668314 53668314 G A SNP ZNF665 ENST00000396424 human ensembl 69_37n -1 known missense c.1429 p.R477W 0.007 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 ZNF665 HGNC ENSG00000197497 120 0 0.00 130 27 17.20 - - -