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 AAK1 0 genome.wustl.edu 37 2 69704074 69704074 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 69704074 69704074 G A SNP AAK1 ENST00000409085 human ensembl 69_37n -1 known missense c.2729 p.S910L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ENSG00000115977 383 1 0.26 291 201 40.85 - - - AASDH 0 genome.wustl.edu 37 4 57217581 57217581 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 57217581 57217581 T C SNP AASDH ENST00000205214 human ensembl 69_37n -1 known missense c.1619 p.Y540C 0.982 NULL pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 74 0 0.00 80 39 32.77 - - - ABCA1 0 genome.wustl.edu 37 9 107580945 107580945 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 107580945 107580945 T - DEL ABCA1 ENST00000374736 human ensembl 69_37n -1 known frame_shift_del c.3461 p.K1154fs 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 169 0 0.00 135 69 33.01 - - - ABCA13 0 genome.wustl.edu 37 7 48313381 48313381 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 48313381 48313381 G A SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.4118 p.R1373H 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 136 1 0.73 61 45 42.45 - - - ABCA13 0 genome.wustl.edu 37 7 48626866 48626866 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 48626866 48626866 A G SNP ABCA13 ENST00000453246 human ensembl 69_37n +1 known missense c.3418 p.T1140A 0.366 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCA13 HGNC ENSG00000179869 84 0 0.00 55 40 42.11 - - - ABCA5 0 genome.wustl.edu 37 17 67309421 67309421 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 67309421 67309421 A G SNP ABCA5 ENST00000392677 human ensembl 69_37n -1 known missense c.119 p.L40P 0.972 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 66 0 0.00 185 29 13.55 - - - ABCA9 0 genome.wustl.edu 37 17 67047217 67047217 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 67047217 67047217 G A SNP ABCA9 ENST00000340001 human ensembl 69_37n -1 known silent c.51 p.C17 0.522 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 358 1 0.28 652 146 18.30 - - - ABCB4 0 genome.wustl.edu 37 7 87051504 87051504 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 87051504 87051504 T C SNP ABCB4 ENST00000265723 human ensembl 69_37n -1 known missense c.2249 p.K750R 0.985 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 90 0 0.00 74 38 33.93 - - - ABCC10 0 genome.wustl.edu 37 6 43416708 43416708 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 43416708 43416708 G A SNP ABCC10 ENST00000372530 human ensembl 69_37n +1 known missense c.4049 p.R1350K 0.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 233 1 0.43 144 88 37.93 - - - ABCD3 0 genome.wustl.edu 37 1 94933479 94933479 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 94933479 94933479 G A SNP ABCD3 ENST00000454898 human ensembl 69_37n +1 known missense c.323 p.G108D 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 480 0 0.00 354 216 37.89 - - - ABLIM2 0 genome.wustl.edu 37 4 7968787 7968787 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 7968787 7968787 C T SNP ABLIM2 ENST00000447017 human ensembl 69_37n -1 known missense c.1868 p.S623N 0.983 pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 165 0 0.00 109 42 27.81 - - - ABLIM2 0 genome.wustl.edu 37 4 7994611 7994611 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 7994611 7994611 C A SNP ABLIM2 ENST00000447017 human ensembl 69_37n -1 known missense c.1662 p.K554N 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 214 0 0.00 120 68 36.17 - - - ACO2 0 genome.wustl.edu 37 22 41903928 41903928 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 41903928 41903928 G T SNP ACO2 ENST00000216254 human ensembl 69_37n +1 known missense c.307 p.A103S 0.999 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 47 0 0.00 31 25 44.64 - - - ACSBG1 0 genome.wustl.edu 37 15 78465994 78465994 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 78465994 78465994 T C SNP ACSBG1 ENST00000258873 human ensembl 69_37n -1 known missense c.2030 p.Y677C 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 169 0 0.00 94 73 43.71 - - - ACSF3 0 genome.wustl.edu 37 16 89178653 89178653 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 89178653 89178653 A G SNP ACSF3 ENST00000317447 human ensembl 69_37n +1 known missense c.976 p.R326G 0.995 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 134 0 0.00 94 40 29.85 - - - ACTA2 0 genome.wustl.edu 37 10 90706831 90706831 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 90706831 90706831 T C SNP ACTA2 ENST00000488967 human ensembl 69_37n -1 known rna NULL NULL 0.092 - - - no_errors ACTA2 HGNC ENSG00000107796 27 0 0.00 25 11 30.56 - - - ACTR1A 0 genome.wustl.edu 37 10 104240642 104240642 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 104240642 104240642 G A SNP ACTR1A ENST00000369905 human ensembl 69_37n -1 known missense c.1109 p.S370F 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR1A HGNC ENSG00000138107 305 0 0.00 195 111 36.27 - - - ACTR5 0 genome.wustl.edu 37 20 37383735 37383735 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 37383735 37383735 G A SNP ACTR5 ENST00000243903 human ensembl 69_37n +1 known missense c.911 p.R304Q 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR5 HGNC ENSG00000101442 90 0 0.00 85 43 33.59 - - - ACTR6 0 genome.wustl.edu 37 12 100613799 100613799 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 100613799 100613799 T - DEL ACTR6 ENST00000188312 human ensembl 69_37n +1 known frame_shift_del c.936 p.F314fs 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR6 HGNC ENSG00000075089 186 0 0.00 135 73 34.27 - - - ADAD2 0 genome.wustl.edu 37 16 84228109 84228109 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 84228109 84228109 T C SNP ADAD2 ENST00000567685 human ensembl 69_37n +1 novel missense c.254 p.L85P 0.000 pfam_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_A_deamin,pfam_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_start_codon:pseudogene:no_stop_codon ADAD2 HGNC ENSG00000140955 75 0 0.00 57 42 42.42 - - - ADAM15 0 genome.wustl.edu 37 1 155035024 155035024 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155035024 155035024 A G SNP ADAM15 ENST00000461234 human ensembl 69_37n +1 known rna NULL NULL 0.047 - - - no_errors ADAM15 HGNC ENSG00000143537 38 0 0.00 33 17 34.00 - - - ADAMDEC1 0 genome.wustl.edu 37 8 24262916 24262916 + RNA SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 24262916 24262916 T G SNP ADAMDEC1 ENST00000519953 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors ADAMDEC1 HGNC ENSG00000134028 125 0 0.00 77 42 35.29 - - - ADAMTS15 0 genome.wustl.edu 37 11 130342942 130342942 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 130342942 130342942 G A SNP ADAMTS15 ENST00000299164 human ensembl 69_37n +1 known missense c.2079 p.M693I 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 65 0 0.00 37 12 24.49 - - - ADAMTS17 0 genome.wustl.edu 37 15 100514630 100514630 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 100514630 100514630 G A SNP ADAMTS17 ENST00000268070 human ensembl 69_37n -1 known missense c.3265 p.R1089C 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 142 1 0.70 70 65 47.10 - - - ADAMTS20 0 genome.wustl.edu 37 12 43822533 43822533 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 43822533 43822533 C A SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.3559 p.A1187S 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 167 0 0.00 138 69 33.33 - - - ADCY7 0 genome.wustl.edu 37 16 50324419 50324419 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 50324419 50324419 G A SNP ADCY7 ENST00000254235 human ensembl 69_37n +1 known missense c.223 p.V75M 0.141 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 174 0 0.00 117 69 37.10 - - - ADCY7 0 genome.wustl.edu 37 16 50324499 50324499 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 50324499 50324499 G T SNP ADCY7 ENST00000254235 human ensembl 69_37n +1 known missense c.303 p.W101C 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 212 0 0.00 114 94 44.98 - - - ADH1A 0 genome.wustl.edu 37 4 100200633 100200633 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 100200633 100200633 T C SNP ADH1A ENST00000209668 human ensembl 69_37n -1 known silent c.1053 p.L351 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1A HGNC ENSG00000187758 323 1 0.31 209 126 37.17 - - - ADRA1D 0 genome.wustl.edu 37 20 4229077 4229077 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 4229077 4229077 G A SNP ADRA1D ENST00000379453 human ensembl 69_37n -1 known silent c.528 p.D176 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,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_A1A,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1D HGNC ENSG00000171873 47 0 0.00 33 17 34.00 - - - ADRB2 0 genome.wustl.edu 37 5 148206709 148206709 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 148206709 148206709 G A SNP ADRB2 ENST00000305988 human ensembl 69_37n +1 known nonsense c.315 p.W105* 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrgc_rcpt_B2,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRB2 HGNC ENSG00000169252 303 0 0.00 181 101 35.69 - - - ADRB3 0 genome.wustl.edu 37 8 37823790 37823790 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 37823790 37823790 C T SNP ADRB3 ENST00000345060 human ensembl 69_37n -1 known silent c.198 p.P66 0.970 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adrgc_rcpt_B3,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors ADRB3 HGNC ENSG00000188778 37 0 0.00 19 10 34.48 - - - AFF2 0 genome.wustl.edu 37 X 148037681 148037681 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 148037681 148037681 G T SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.2106 p.K702N 0.959 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 154 0 0.00 99 73 42.44 - - - AGAP7 0 genome.wustl.edu 37 10 51465003 51465003 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 51465003 51465003 T C SNP AGAP7 ENST00000374095 human ensembl 69_37n -1 known missense c.1453 p.S485G 1.000 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 463 0 0.00 377 80 17.47 - - - AGBL3 0 genome.wustl.edu 37 7 134719638 134719638 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 134719638 134719638 A G SNP AGBL3 ENST00000458078 human ensembl 69_37n +1 known silent c.1218 p.E406 0.108 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 183 0 0.00 207 24 10.39 - - - AGFG2 0 genome.wustl.edu 37 7 100150976 100150976 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 100150976 100150976 C - DEL AGFG2 ENST00000300176 human ensembl 69_37n +1 known frame_shift_del c.438 p.P148fs 0.999 superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 293 0 0.00 164 96 35.82 - - - AGTR2 0 genome.wustl.edu 37 X 115303928 115303928 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 115303928 115303928 T - DEL AGTR2 ENST00000371906 human ensembl 69_37n +1 known frame_shift_del c.395 p.F134fs 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Chemokine_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor,prints_Chemokine_rcpt - no_errors AGTR2 HGNC ENSG00000180772 497 0 0.00 389 191 32.71 - - - AGXT2L2 0 genome.wustl.edu 37 5 177642316 177642316 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 177642316 177642316 C A SNP AGXT2L2 ENST00000308158 human ensembl 69_37n -1 known missense c.1043 p.G348V 0.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC ENSG00000175309 42 0 0.00 22 17 43.59 - - - AHRR 0 genome.wustl.edu 37 5 353994 353994 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 353994 353994 T C SNP AHRR ENST00000316418 human ensembl 69_37n +1 known missense c.224 p.V75A 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors AHRR HGNC ENSG00000063438 173 0 0.00 125 73 36.87 - - - AKAP13 0 genome.wustl.edu 37 15 86227941 86227941 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 86227941 86227941 A - DEL AKAP13 ENST00000558092 human ensembl 69_37n +1 putative rna NULL NULL 0.013 - - - no_errors AKAP13 HGNC ENSG00000170776 94 0 0.00 66 39 36.45 - - - AKAP14 0 genome.wustl.edu 37 X 119037309 119037309 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 119037309 119037309 A G SNP AKAP14 ENST00000371431 human ensembl 69_37n +1 known silent c.123 p.L41 0.000 NULL NULL - no_errors AKAP14 HGNC ENSG00000186471 380 0 0.00 220 178 44.72 - - - AKR1C1 0 genome.wustl.edu 37 10 5009171 5009171 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 5009171 5009171 C T SNP AKR1C1 ENST00000380872 human ensembl 69_37n +1 known missense c.305 p.S102L 0.185 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 423 1 0.24 268 140 34.31 - - - AKR1C1 0 genome.wustl.edu 37 10 5009412 5009412 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 5009412 5009412 C T SNP AKR1C1 ENST00000477661 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors AKR1C1 HGNC ENSG00000187134 47 0 0.00 21 15 41.67 - - - ALDH1A1 0 genome.wustl.edu 37 9 75542080 75542080 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 75542080 75542080 A - DEL ALDH1A1 ENST00000297785 human ensembl 69_37n -1 known frame_shift_del c.456 p.F152fs 0.782 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 135 0 0.00 109 36 24.83 - - - ALDH3A1 0 genome.wustl.edu 37 17 19641648 19641649 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 19641648 19641649 - G INS ALDH3A1 ENST00000225740 human ensembl 69_37n -1 known frame_shift_ins c.1335_1334 p.S446fs 0.002:0.889 superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 81 0 0.00 41 18 30.51 - - - ALDOA 0 genome.wustl.edu 37 16 30080962 30080962 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 30080962 30080962 C T SNP ALDOA ENST00000338110 human ensembl 69_37n +1 known missense c.767 p.A256V 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 134 0 0.00 65 43 39.81 - - - ALKBH8 0 genome.wustl.edu 37 11 107393128 107393128 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 107393128 107393128 G A SNP ALKBH8 ENST00000417449 human ensembl 69_37n -1 known missense c.1193 p.P398L 1.000 pfam_Methyltransferase-rel pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 416 0 0.00 287 147 33.79 - - - ALOX15B 0 genome.wustl.edu 37 17 7942706 7942706 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 7942706 7942706 G T SNP ALOX15B ENST00000380183 human ensembl 69_37n +1 known missense c.150 p.E50D 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 58 0 0.00 44 22 33.33 - - - ALPP 0 genome.wustl.edu 37 2 233244618 233244618 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 233244618 233244618 C T SNP ALPP ENST00000392027 human ensembl 69_37n +1 known missense c.629 p.T210M 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 58 0 0.00 27 11 28.95 - - - ALS2CR8 0 genome.wustl.edu 37 2 203848327 203848327 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 203848327 203848327 A G SNP ALS2CR8 ENST00000320443 human ensembl 69_37n +1 known missense c.2158 p.K720E 0.578 NULL NULL - no_errors ALS2CR8 HGNC ENSG00000138380 163 0 0.00 173 31 15.12 - - - ALX4 0 genome.wustl.edu 37 11 44289131 44289131 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 44289131 44289131 C T SNP ALX4 ENST00000329255 human ensembl 69_37n -1 known silent c.819 p.E273 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors ALX4 HGNC ENSG00000052850 264 1 0.38 194 106 35.22 - - - AMBRA1 0 genome.wustl.edu 37 11 46568609 46568609 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 46568609 46568609 A - DEL AMBRA1 ENST00000524783 human ensembl 69_37n -1 known rna NULL NULL 0.881 - - - no_errors AMBRA1 HGNC ENSG00000110497 49 0 0.00 38 25 39.06 - - - AMOT 0 genome.wustl.edu 37 X 112048215 112048215 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 112048215 112048215 A G SNP AMOT ENST00000371959 human ensembl 69_37n -1 known missense c.1736 p.L579P 0.949 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 385 0 0.00 277 182 39.65 - - - ANAPC1 0 genome.wustl.edu 37 2 112592360 112592360 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 112592360 112592360 A G SNP ANAPC1 ENST00000427997 human ensembl 69_37n -1 novel missense c.808 p.F270L 0.002 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANAPC1 HGNC ENSG00000153107 173 0 0.00 106 81 43.32 - - - ANK2 0 genome.wustl.edu 37 4 114223960 114223960 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 114223960 114223960 C T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.2513 p.T838M 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 294 0 0.00 221 126 36.31 - - - ANK3 0 genome.wustl.edu 37 10 62038606 62038606 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 62038606 62038606 C T SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.340 p.A114T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 410 0 0.00 291 164 35.96 - - - ANKHD1 0 genome.wustl.edu 37 5 139818109 139818109 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 139818109 139818109 T C SNP ANKHD1 ENST00000297183 human ensembl 69_37n +1 known missense c.524 p.L175P 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 264 0 0.00 204 117 36.45 - - - ANKMY1 0 genome.wustl.edu 37 2 241496666 241496666 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 241496666 241496666 G A SNP ANKMY1 ENST00000361678 human ensembl 69_37n -1 known silent c.87 p.G29 0.000 NULL pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 19 0 0.00 13 12 46.15 - - - ANKRD11 0 genome.wustl.edu 37 16 89347283 89347283 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 89347283 89347283 T C SNP ANKRD11 ENST00000301030 human ensembl 69_37n -1 known silent c.5667 p.K1889 0.993 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 63 0 0.00 35 29 42.65 - - - ANKRD11 0 genome.wustl.edu 37 16 89348127 89348127 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 89348127 89348127 A G SNP ANKRD11 ENST00000301030 human ensembl 69_37n -1 known missense c.4823 p.M1608T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 136 0 0.00 64 61 48.80 - - - ANKRD12 0 genome.wustl.edu 37 18 9256207 9256207 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 9256207 9256207 A - DEL ANKRD12 ENST00000262126 human ensembl 69_37n +1 known frame_shift_del c.2942 p.K983fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 41 0 0.00 18 15 45.45 - - - ANKRD2 0 genome.wustl.edu 37 10 99343450 99343450 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 99343450 99343450 C T SNP ANKRD2 ENST00000307518 human ensembl 69_37n +1 known nonsense c.1051 p.R351* 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD2 HGNC ENSG00000165887 27 0 0.00 19 11 36.67 - - - ANKRD30A 0 genome.wustl.edu 37 10 37466667 37466667 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 37466667 37466667 T A SNP ANKRD30A ENST00000374660 human ensembl 69_37n +1 putative missense c.2327 p.I776K 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 34 0 0.00 21 10 32.26 - - - ANKRD36B 0 genome.wustl.edu 37 2 98197016 98197016 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 98197016 98197016 G A SNP ANKRD36B ENST00000443455 human ensembl 69_37n -1 known rna NULL NULL 0.046 - - - no_errors ANKRD36B HGNC ENSG00000196912 501 0 0.00 362 206 36.14 - - - ANO10 0 genome.wustl.edu 37 3 43408450 43408450 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 43408450 43408450 G A SNP ANO10 ENST00000292246 human ensembl 69_37n -1 known missense c.1931 p.T644I 0.555 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 305 0 0.00 55 119 68.39 - - - ANO9 0 genome.wustl.edu 37 11 418575 418575 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 418575 418575 G A SNP ANO9 ENST00000332826 human ensembl 69_37n -1 known silent c.2145 p.C715 0.991 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 69 0 0.00 48 31 39.24 - - - ANXA13 0 genome.wustl.edu 37 8 124710747 124710747 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 124710747 124710747 G A SNP ANXA13 ENST00000262219 human ensembl 69_37n -1 known missense c.362 p.A121V 0.989 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 132 0 0.00 87 51 36.96 - - - AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 69_37n -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu - no_errors AP3B1 HGNC ENSG00000132842 431 1 0.23 303 155 33.19 - - - APBA2 0 genome.wustl.edu 37 15 29406115 29406115 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 29406115 29406115 G - DEL APBA2 ENST00000558259 human ensembl 69_37n +1 known frame_shift_del c.2074 p.G693fs 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 84 0 0.00 40 22 35.48 - - - APC 0 genome.wustl.edu 37 5 112176648 112176648 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 112176648 112176648 G T SNP APC ENST00000257430 human ensembl 69_37n +1 known missense c.5357 p.R1786M 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 97 0 0.00 40 38 48.72 - - - APC2 0 genome.wustl.edu 37 19 1456366 1456366 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 1456366 1456366 A G SNP APC2 ENST00000233607 human ensembl 69_37n +1 known missense c.779 p.H260R 0.998 NULL pfam_APC_basic_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 25 0 0.00 18 9 32.14 - - - API5 0 genome.wustl.edu 37 11 43342374 43342374 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 43342374 43342374 C T SNP API5 ENST00000531273 human ensembl 69_37n +1 known nonsense c.235 p.R79* 1.000 pfam_API5,superfamily_ARM-type_fold pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 323 0 0.00 173 120 40.82 - - - APOA1 0 genome.wustl.edu 37 11 116707832 116707832 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 116707832 116707832 G - DEL APOA1 ENST00000236850 human ensembl 69_37n -1 known frame_shift_del c.85 p.Q29fs 0.896 NULL pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 103 0 0.00 61 37 36.63 - - - ARAP1 0 genome.wustl.edu 37 11 72422518 72422518 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 72422518 72422518 A G SNP ARAP1 ENST00000393609 human ensembl 69_37n -1 known missense c.1049 p.V350A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 167 0 0.00 108 67 38.07 - - - ARFGAP2 0 genome.wustl.edu 37 11 47186970 47186970 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 47186970 47186970 A G SNP ARFGAP2 ENST00000395449 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ARFGAP2 HGNC ENSG00000149182 194 0 0.00 121 71 36.98 - - - ARFGAP3 0 genome.wustl.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 43213780 43213780 T - DEL ARFGAP3 ENST00000263245 human ensembl 69_37n -1 known frame_shift_del c.896 p.N299fs 0.002 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 865 3 0.35 545 336 37.63 - - - ARFGEF1 0 genome.wustl.edu 37 8 68137173 68137173 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 68137173 68137173 A G SNP ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known silent c.4173 p.C1391 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 225 0 0.00 158 94 37.30 - - - ARHGAP24 0 genome.wustl.edu 37 4 86852113 86852113 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 86852113 86852113 C T SNP ARHGAP24 ENST00000264343 human ensembl 69_37n +1 known silent c.30 p.C10 0.933 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 125 0 0.00 112 76 40.43 - - - ARHGAP26 0 genome.wustl.edu 37 5 142593593 142593593 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 142593593 142593593 G A SNP ARHGAP26 ENST00000274498 human ensembl 69_37n +1 known missense c.2296 p.A766T 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP26 HGNC ENSG00000145819 94 0 0.00 62 40 39.22 - - - ARHGAP29 0 genome.wustl.edu 37 1 94649793 94649793 + Missense_Mutation SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 94649793 94649793 C G SNP ARHGAP29 ENST00000260526 human ensembl 69_37n -1 known missense c.2161 p.A721P 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom 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 222 0 0.00 181 96 34.66 - - - ARHGAP35 0 genome.wustl.edu 37 19 47422332 47422332 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 47422332 47422332 T - DEL ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known frame_shift_del c.400 p.C135fs 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 157 0 0.00 116 61 33.52 - - - ARHGAP35 0 genome.wustl.edu 37 19 47423374 47423374 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 47423374 47423374 A - DEL ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known frame_shift_del c.1442 p.K482fs 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 60 0 0.00 55 33 36.67 - - - ARHGAP36 0 genome.wustl.edu 37 X 130222619 130222619 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 130222619 130222619 G A SNP ARHGAP36 ENST00000276211 human ensembl 69_37n +1 known missense c.1504 p.A502T 0.994 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 139 0 0.00 108 58 34.94 - - - ARHGAP4 0 genome.wustl.edu 37 X 153184655 153184655 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 153184655 153184655 G A SNP ARHGAP4 ENST00000350060 human ensembl 69_37n -1 known missense c.764 p.A255V 0.488 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 283 1 0.35 145 91 38.24 - - - ARHGAP5 0 genome.wustl.edu 37 14 32561797 32561797 + Nonsense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 32561797 32561797 C A SNP ARHGAP5 ENST00000345122 human ensembl 69_37n +1 known nonsense c.1922 p.S641* 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 223 0 0.00 178 74 29.37 - - - ARHGAP6 0 genome.wustl.edu 37 X 11160421 11160421 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 11160421 11160421 T A SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known missense c.2189 p.E730V 0.996 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 307 0 0.00 219 129 36.96 - - - ARHGAP6 0 genome.wustl.edu 37 X 11308542 11308542 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 11308542 11308542 T C SNP ARHGAP6 ENST00000380732 human ensembl 69_37n -1 known silent c.645 p.T215 0.001 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 300 0 0.00 221 143 39.07 - - - ARHGEF10L 0 genome.wustl.edu 37 1 17953903 17953903 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 17953903 17953903 G A SNP ARHGEF10L ENST00000361221 human ensembl 69_37n +1 known missense c.1489 p.A497T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 30 0 0.00 30 9 23.08 - - - ARID1B 0 genome.wustl.edu 37 6 157505482 157505482 + Nonsense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 157505482 157505482 A T SNP ARID1B ENST00000367148 human ensembl 69_37n +1 known nonsense c.3583 p.K1195* 1.000 superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 119 0 0.00 24 80 76.92 - - - ARMC2 0 genome.wustl.edu 37 6 109282824 109282824 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 109282824 109282824 G A SNP ARMC2 ENST00000392644 human ensembl 69_37n +1 known silent c.1965 p.A655 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 186 0 0.00 164 91 35.69 - - - ARR3 0 genome.wustl.edu 37 X 69495968 69495968 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 69495968 69495968 G A SNP ARR3 ENST00000307959 human ensembl 69_37n +1 known missense c.182 p.R61H 0.998 pfam_Arrestin-like_N,superfamily_Ig_E-set,prints_Arrestin pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC ENSG00000120500 249 1 0.40 179 78 30.35 - - - ASAP2 0 genome.wustl.edu 37 2 9525431 9525431 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 9525431 9525431 C T SNP ASAP2 ENST00000281419 human ensembl 69_37n +1 known nonsense c.2074 p.R692* 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 317 0 0.00 209 96 31.48 - - - ASB13 0 genome.wustl.edu 37 10 5693197 5693197 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 5693197 5693197 G - DEL ASB13 ENST00000357700 human ensembl 69_37n -1 known frame_shift_del c.361 p.L121fs 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB13 HGNC ENSG00000196372 39 0 0.00 31 14 30.43 - - - ASH1L 0 genome.wustl.edu 37 1 155450676 155450676 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155450676 155450676 A G SNP ASH1L ENST00000368346 human ensembl 69_37n -1 known missense c.1985 p.I662T 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 86 0 0.00 134 30 18.29 - - - ASMTL 0 genome.wustl.edu 37 X 1536899 1536900 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 1536899 1536900 - G INS ASMTL ENST00000381317 human ensembl 69_37n -1 known frame_shift_ins c.1489_1488 p.G496fs 0.038:0.003 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 464 0 0.00 328 141 30.06 - - - ASPH 0 genome.wustl.edu 37 8 62588724 62588726 + In_Frame_Del DEL TTC TTC - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 62588724 62588726 TTC - DEL ASPH ENST00000379449 human ensembl 69_37n -1 putative in_frame_del c.522_520 p.E174in_frame_del 1.000:1.000:1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors ASPH HGNC ENSG00000198363 323 2 0.62 237 88 26.75 - - - ASPM 0 genome.wustl.edu 37 1 197060006 197060006 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 197060006 197060006 A T SNP ASPM ENST00000367409 human ensembl 69_37n -1 known missense c.9610 p.F3204I 0.000 superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 192 0 0.00 393 80 16.91 - - - ASTN2 0 genome.wustl.edu 37 9 119737556 119737556 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 119737556 119737556 T C SNP ASTN2 ENST00000313400 human ensembl 69_37n -1 known missense c.1820 p.E607G 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 90 0 0.00 75 32 29.91 - - - ASXL2 0 genome.wustl.edu 37 2 25967093 25967093 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 25967093 25967093 C A SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.2113 p.G705C 0.093 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 124 0 0.00 86 62 41.89 - - - ATF4P4 0 genome.wustl.edu 37 11 113661260 113661260 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 113661260 113661260 G A SNP ATF4P4 ENST00000393544 human ensembl 69_37n +1 known rna NULL NULL 0.864 - - - no_errors ATF4P4 HGNC ENSG00000256167 85 0 0.00 44 42 48.84 - - - ATL1 0 genome.wustl.edu 37 14 51058288 51058288 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 51058288 51058288 T C SNP ATL1 ENST00000357032 human ensembl 69_37n +1 known silent c.453 p.F151 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 356 1 0.28 245 131 34.75 - - - ATM 0 genome.wustl.edu 37 11 108235935 108235935 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 108235935 108235935 C T SNP ATM ENST00000278616 human ensembl 69_37n +1 known nonsense c.8977 p.R2993* 1.000 smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 300 1 0.33 217 124 36.26 - - - ATN1 0 genome.wustl.edu 37 12 7050587 7050587 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 7050587 7050587 G A SNP ATN1 ENST00000356654 human ensembl 69_37n +1 known missense c.3409 p.A1137T 1.000 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 14 0 0.00 11 10 47.62 - - - ATP10B 0 genome.wustl.edu 37 5 160047421 160047421 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 160047421 160047421 G A SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known silent c.2349 p.G783 0.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 90 0 0.00 59 39 39.80 - - - ATP1A1 0 genome.wustl.edu 37 1 116942043 116942043 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 116942043 116942043 T C SNP ATP1A1 ENST00000295598 human ensembl 69_37n +1 known missense c.2450 p.V817A 0.997 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A1 HGNC ENSG00000163399 195 0 0.00 127 61 32.45 - - - ATP1A2 0 genome.wustl.edu 37 1 160093075 160093075 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 160093075 160093075 A G SNP ATP1A2 ENST00000361216 human ensembl 69_37n +1 known missense c.250 p.T84A 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A2 HGNC ENSG00000018625 190 1 0.52 361 81 17.96 - - - ATP1A3 0 genome.wustl.edu 37 19 42474445 42474445 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 42474445 42474445 G A SNP ATP1A3 ENST00000545399 human ensembl 69_37n -1 known silent c.2473 p.L825 0.095 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 224 1 0.44 146 81 35.68 - - - ATP1A4 0 genome.wustl.edu 37 1 160124898 160124898 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 160124898 160124898 C - DEL ATP1A4 ENST00000368081 human ensembl 69_37n +1 known frame_shift_del c.271 p.T93fs 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 215 0 0.00 463 67 12.41 - - - ATP1B4 0 genome.wustl.edu 37 X 119500623 119500623 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 119500623 119500623 G A SNP ATP1B4 ENST00000218008 human ensembl 69_37n +1 known missense c.307 p.A103T 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B4 HGNC ENSG00000101892 121 0 0.00 84 37 30.33 - - - ATP2B1 0 genome.wustl.edu 37 12 89996933 89996933 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 89996933 89996933 G A SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known nonsense c.2947 p.Q983* 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 238 0 0.00 214 114 34.76 - - - ATP5L 0 genome.wustl.edu 37 11 118279788 118279788 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 118279788 118279788 G - DEL ATP5L ENST00000300688 human ensembl 69_37n +1 known frame_shift_del c.287 p.G97fs 1.000 pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met - no_errors ATP5L HGNC ENSG00000167283 412 0 0.00 316 122 27.17 - - - ATP6V0A1 0 genome.wustl.edu 37 17 40666400 40666400 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 40666400 40666400 C T SNP ATP6V0A1 ENST00000264649 human ensembl 69_37n +1 known missense c.2345 p.A782V 0.999 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A1 HGNC ENSG00000033627 346 0 0.00 74 120 61.54 - - - ATP6V1B1 0 genome.wustl.edu 37 2 71185491 71185491 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 71185491 71185491 C T SNP ATP6V1B1 ENST00000234396 human ensembl 69_37n +1 known missense c.302 p.A101V 1.000 pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 152 0 0.00 130 71 35.32 - - - ATP7A 0 genome.wustl.edu 37 X 77245410 77245410 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 77245410 77245410 T C SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known missense c.1292 p.L431S 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 135 0 0.00 103 61 37.20 - - - ATP8B2 0 genome.wustl.edu 37 1 154320943 154320943 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 154320943 154320943 G A SNP ATP8B2 ENST00000368489 human ensembl 69_37n +1 known missense c.3322 p.V1108I 0.792 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 113 0 0.00 199 37 15.68 - - - ATRNL1 0 genome.wustl.edu 37 10 116887435 116887435 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 116887435 116887435 T - DEL ATRNL1 ENST00000355044 human ensembl 69_37n +1 known frame_shift_del c.570 p.F192fs 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 512 0 0.00 379 230 37.58 - - - ATRX 0 genome.wustl.edu 37 X 76939856 76939858 + In_Frame_Del DEL TCT TCT - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 76939856 76939858 TCT - DEL ATRX ENST00000373344 human ensembl 69_37n -1 known in_frame_del c.892_890 p.K297in_frame_del 0.998:0.996:1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 416 0 0.00 341 132 27.91 - - - ATXN10 0 genome.wustl.edu 37 22 46202974 46202974 + Missense_Mutation SNP A A C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 46202974 46202974 A C SNP ATXN10 ENST00000451241 human ensembl 69_37n +1 putative missense c.407 p.H136P 0.000 NULL pfam_Ataxin-10_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATXN10 HGNC ENSG00000130638 176 0 0.00 101 80 44.20 - - - ATXN2 0 genome.wustl.edu 37 12 111895157 111895157 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 111895157 111895157 G A SNP ATXN2 ENST00000377617 human ensembl 69_37n -1 known missense c.3377 p.T1126M 0.995 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 605 1 0.16 428 244 36.20 - - - AZI1 0 genome.wustl.edu 37 17 79170839 79170839 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 79170839 79170839 G A SNP AZI1 ENST00000269392 human ensembl 69_37n -1 known missense c.1673 p.A558V 0.348 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 61 0 0.00 91 25 20.33 - - - B4GALNT4 0 genome.wustl.edu 37 11 375759 375759 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 375759 375759 A G SNP B4GALNT4 ENST00000329962 human ensembl 69_37n +1 known missense c.971 p.D324G 1.000 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 15 0 0.00 11 9 45.00 - - - B9D1 0 genome.wustl.edu 37 17 19246897 19246897 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 19246897 19246897 C - DEL B9D1 ENST00000477478 human ensembl 69_37n -1 putative frame_shift_del c.605 p.G202fs 0.000 NULL NULL - no_errors B9D1 HGNC ENSG00000108641 31 0 0.00 11 8 42.11 - - - BACE2 0 genome.wustl.edu 37 21 42647649 42647649 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 42647649 42647649 G A SNP BACE2 ENST00000466122 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors BACE2 HGNC ENSG00000182240 35 0 0.00 27 16 37.21 - - - BAHCC1 0 genome.wustl.edu 37 17 79428464 79428464 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 79428464 79428464 C T SNP BAHCC1 ENST00000307745 human ensembl 69_37n +1 known missense c.6775 p.R2259W 0.797 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC ENSG00000171282 16 0 0.00 31 7 18.42 - - - BAX 0 genome.wustl.edu 37 19 49458970 49458971 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 49458970 49458971 - G INS BAX ENST00000293288 human ensembl 69_37n +1 known frame_shift_ins c.113_114 p.E41fs 0.585:0.588 NULL pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH - no_errors BAX HGNC ENSG00000087088 142 0 0.00 103 42 28.97 - - - BAZ1B 0 genome.wustl.edu 37 7 72907202 72907202 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 72907202 72907202 T - DEL BAZ1B ENST00000339594 human ensembl 69_37n -1 known frame_shift_del c.621 p.G208fs 0.998 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 590 0 0.00 428 213 32.87 - - - BBX 0 genome.wustl.edu 37 3 107497243 107497244 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 107497243 107497244 - A INS BBX ENST00000325805 human ensembl 69_37n +1 known frame_shift_ins c.2080_2081 p.F697fs 1.000:1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC ENSG00000114439 91 0 0.00 114 31 21.38 - - - BCAN 0 genome.wustl.edu 37 1 156618499 156618499 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 156618499 156618499 A G SNP BCAN ENST00000329117 human ensembl 69_37n +1 known silent c.909 p.P303 0.001 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors BCAN HGNC ENSG00000132692 45 0 0.00 67 16 19.28 - - - BCAN 0 genome.wustl.edu 37 1 156626738 156626738 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 156626738 156626738 T G SNP BCAN ENST00000329117 human ensembl 69_37n +1 known missense c.2059 p.F687V 0.197 prints_AntifreezeII pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors BCAN HGNC ENSG00000132692 41 0 0.00 30 81 72.97 - - - BCAP31 0 genome.wustl.edu 37 X 152967532 152967532 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 152967532 152967532 G A SNP BCAP31 ENST00000458587 human ensembl 69_37n -1 known missense c.833 p.A278V 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP31 HGNC ENSG00000185825 172 0 0.00 89 59 39.86 - - - BCAR1 0 genome.wustl.edu 37 16 75271166 75271166 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 75271166 75271166 G A SNP BCAR1 ENST00000418647 human ensembl 69_37n -1 known missense c.848 p.P283L 0.996 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 40 0 0.00 21 16 41.03 - - - BCKDHA 0 genome.wustl.edu 37 19 41925061 41925061 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 41925061 41925061 A G SNP BCKDHA ENST00000269980 human ensembl 69_37n +1 known missense c.506 p.Y169C 1.000 pfam_DH_E1 pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 200 2 0.99 154 75 32.61 - - - BCL9 0 genome.wustl.edu 37 1 147096678 147096678 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 147096678 147096678 T C SNP BCL9 ENST00000234739 human ensembl 69_37n +1 known missense c.4199 p.M1400T 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 53 0 0.00 104 23 18.11 - - - BCOR 0 genome.wustl.edu 37 X 39913235 39913235 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 39913235 39913235 T C SNP BCOR ENST00000378444 human ensembl 69_37n -1 known missense c.4880 p.D1627G 0.364 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 195 0 0.00 163 88 35.06 - - - BCORL1 0 genome.wustl.edu 37 X 129171439 129171439 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 129171439 129171439 G T SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known missense c.4625 p.W1542L 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 104 0 0.00 66 42 38.89 - - - BFSP2 0 genome.wustl.edu 37 3 133167374 133167374 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 133167374 133167374 A G SNP BFSP2 ENST00000302334 human ensembl 69_37n +1 known missense c.614 p.E205G 1.000 pfam_F,prints_Keratin_I pfam_F,prints_Keratin_I - no_errors BFSP2 HGNC ENSG00000170819 181 0 0.00 120 65 35.14 - - - BHLHE41 0 genome.wustl.edu 37 12 26275895 26275895 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 26275895 26275895 G T SNP BHLHE41 ENST00000242728 human ensembl 69_37n -1 known missense c.553 p.P185T 0.685 NULL pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors BHLHE41 HGNC ENSG00000123095 41 0 0.00 32 19 37.25 - - - BID 0 genome.wustl.edu 37 22 18226752 18226752 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 18226752 18226752 C T SNP BID ENST00000317361 human ensembl 69_37n -1 known missense c.178 p.E60K 0.010 pfam_BID pfam_BID - no_errors BID HGNC ENSG00000015475 87 0 0.00 100 12 10.71 - - - BIRC6 0 genome.wustl.edu 37 2 32740628 32740628 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 32740628 32740628 G A SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.11140 p.A3714T 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 222 0 0.00 168 69 29.11 - - - BRPF3 0 genome.wustl.edu 37 6 36179276 36179276 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 36179276 36179276 G - DEL BRPF3 ENST00000357641 human ensembl 69_37n +1 known frame_shift_del c.2421 p.D809fs 0.490 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 70 0 0.00 52 17 24.64 - - - BSDC1 0 genome.wustl.edu 37 1 32849565 32849565 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 32849565 32849565 T C SNP BSDC1 ENST00000341071 human ensembl 69_37n -1 known missense c.274 p.K92E 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 266 0 0.00 189 109 36.45 - - - BTAF1 0 genome.wustl.edu 37 10 93787059 93787059 + Splice_Site SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 93787059 93787059 T C SNP BTAF1 ENST00000265990 human ensembl 69_37n +1 known splice_site c.5406+2 e37+2 1.000 - - - no_errors BTAF1 HGNC ENSG00000095564 306 1 0.32 220 170 43.59 - - - BTBD18 0 genome.wustl.edu 37 11 57518546 57518546 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 57518546 57518546 G A SNP BTBD18 ENST00000422652 human ensembl 69_37n -1 known nonsense c.115 p.Q39* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC ENSG00000233436 107 0 0.00 78 40 33.90 - - - BTBD3 0 genome.wustl.edu 37 20 11903955 11903955 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 11903955 11903955 A G SNP BTBD3 ENST00000378226 human ensembl 69_37n +1 known missense c.1210 p.R404G 1.000 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 152 1 0.65 112 79 41.15 - - - BTNL9 0 genome.wustl.edu 37 5 180475112 180475112 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 180475112 180475112 G A SNP BTNL9 ENST00000376842 human ensembl 69_37n +1 known missense c.295 p.A99T 0.833 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL9 HGNC ENSG00000165810 92 0 0.00 69 37 34.58 - - - BUB1B 0 genome.wustl.edu 37 15 40512768 40512768 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 40512768 40512768 A - DEL BUB1B ENST00000412359 human ensembl 69_37n +1 known frame_shift_del c.3003 p.D1003fs 0.976 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 200 0 0.00 136 85 37.44 - - - C10orf90 0 genome.wustl.edu 37 10 128193497 128193497 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 128193497 128193497 C T SNP C10orf90 ENST00000544758 human ensembl 69_37n -1 known missense c.563 p.R188H 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 201 0 0.00 128 79 38.16 - - - C10orf99 0 genome.wustl.edu 37 10 85933676 85933676 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 85933676 85933676 A T SNP C10orf99 ENST00000372126 human ensembl 69_37n +1 known missense c.69 p.E23D 0.998 NULL NULL - no_errors C10orf99 HGNC ENSG00000188373 494 0 0.00 321 150 31.78 - - - C11orf49 0 genome.wustl.edu 37 11 47182742 47182745 + Frame_Shift_Del DEL GTAA GTAA - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 47182742 47182745 GTAA - DEL C11orf49 ENST00000395460 human ensembl 69_37n +1 known frame_shift_del c.822_825 p.*275fs 1.000:1.000:1.000:1.000 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 121 0 0.00 122 32 20.78 - - - C11orf71 0 genome.wustl.edu 37 11 114270753 114270753 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 114270753 114270753 G T SNP C11orf71 ENST00000325636 human ensembl 69_37n -1 known missense c.301 p.L101I 0.011 NULL NULL - no_errors C11orf71 HGNC ENSG00000180425 80 0 0.00 61 22 26.51 - - - C11orf80 0 genome.wustl.edu 37 11 66529727 66529727 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 66529727 66529727 C T SNP C11orf80 ENST00000527368 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors C11orf80 HGNC ENSG00000173715 34 0 0.00 9 9 50.00 - - - C14orf169 0 genome.wustl.edu 37 14 73959452 73959452 + RNA SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 73959452 73959452 T A SNP C14orf169 ENST00000531973 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors C14orf169 HGNC ENSG00000255242 175 0 0.00 90 60 40.00 - - - C14orf37 0 genome.wustl.edu 37 14 58599980 58599980 + Silent SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 58599980 58599980 A T SNP C14orf37 ENST00000267485 human ensembl 69_37n -1 known silent c.1449 p.A483 0.020 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 223 0 0.00 158 98 38.13 - - - C14orf43 0 genome.wustl.edu 37 14 74194160 74194160 + Splice_Site SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 74194160 74194160 C T SNP C14orf43 ENST00000286523 human ensembl 69_37n -1 known splice_site c.2162+1 e4+1 1.000 - - - no_errors C14orf43 HGNC ENSG00000156030 69 0 0.00 40 13 24.53 - - - C16orf5 0 genome.wustl.edu 37 16 4563017 4563017 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 4563017 4563017 G - DEL C16orf5 ENST00000399599 human ensembl 69_37n -1 known frame_shift_del c.290 p.P97fs 0.740 NULL pfam_LITAF,smart_LITAF - no_errors C16orf5 HGNC ENSG00000089486 29 0 0.00 22 8 25.81 - - - C16orf53 0 genome.wustl.edu 37 16 29828310 29828312 + In_Frame_Del DEL AAG AAG - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 29828310 29828312 AAG - DEL C16orf53 ENST00000320330 human ensembl 69_37n +1 known in_frame_del c.464_466 p.E159in_frame_del 0.998:1.000:1.000 NULL NULL - no_errors C16orf53 HGNC ENSG00000185928 92 0 0.00 55 25 30.49 - - - C17orf104 0 genome.wustl.edu 37 17 42744742 42744742 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 42744742 42744742 C T SNP C17orf104 ENST00000409122 human ensembl 69_37n +1 known missense c.1463 p.P488L 0.994 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 138 0 0.00 35 53 60.23 - - - C1R 0 genome.wustl.edu 37 12 7242820 7242820 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 7242820 7242820 C A SNP C1R ENST00000290575 human ensembl 69_37n -1 known missense c.298 p.G100W 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors C1R HGNC ENSG00000159403 103 0 0.00 58 51 46.79 - - - C1orf111 0 genome.wustl.edu 37 1 162346433 162346434 + RNA INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 162346433 162346434 - A INS C1orf111 ENST00000493255 human ensembl 69_37n -1 known rna NULL NULL 0.001:0.001 - - - no_errors C1orf111 HGNC ENSG00000171722 128 0 0.00 248 48 16.22 - - - C1orf129 0 genome.wustl.edu 37 1 170940891 170940891 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 170940891 170940891 A G SNP C1orf129 ENST00000367759 human ensembl 69_37n +1 known missense c.483 p.I161M 0.678 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf129 HGNC ENSG00000117501 318 2 0.62 718 153 17.55 - - - C1orf222 0 genome.wustl.edu 37 1 1857266 1857266 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 1857266 1857266 T C SNP C1orf222 ENST00000493964 human ensembl 69_37n -1 putative missense c.1909 p.M637V 1.000 NULL superfamily_PapD-like - no_start_codon C1orf222 HGNC ENSG00000142609 59 0 0.00 52 19 26.76 - - - C1orf228 0 genome.wustl.edu 37 1 45169767 45169767 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 45169767 45169767 A G SNP C1orf228 ENST00000458657 human ensembl 69_37n +1 known missense c.646 p.I216V 0.372 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf228 HGNC ENSG00000198520 92 0 0.00 72 27 27.27 - - - C20orf112 0 genome.wustl.edu 37 20 31041556 31041556 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 31041556 31041556 G - DEL C20orf112 ENST00000359676 human ensembl 69_37n -1 known frame_shift_del c.396 p.Y133fs 0.034 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 220 1 0.45 148 65 30.23 - - - C20orf152 0 genome.wustl.edu 37 20 34618401 34618402 + Frame_Shift_Del DEL AG AG - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 34618401 34618402 AG - DEL C20orf152 ENST00000373973 human ensembl 69_37n +1 known frame_shift_del c.1562_1563 p.E523fs 0.899:0.903 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors C20orf152 HGNC ENSG00000149646 273 0 0.00 180 101 35.31 - - - C21orf2 0 genome.wustl.edu 37 21 45752960 45752960 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 45752960 45752960 G T SNP C21orf2 ENST00000339818 human ensembl 69_37n -1 known missense c.329 p.T110N 1.000 smart_U2A'_phosphoprotein32A_C smart_U2A'_phosphoprotein32A_C - no_errors C21orf2 HGNC ENSG00000160226 11 0 0.00 15 6 28.57 - - - C21orf33 0 genome.wustl.edu 37 21 45553575 45553575 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 45553575 45553575 C T SNP C21orf33 ENST00000493883 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors C21orf33 HGNC ENSG00000160221 48 0 0.00 33 22 40.00 - - - C21orf88 0 genome.wustl.edu 37 21 40969873 40969873 + Missense_Mutation SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 40969873 40969873 C G SNP C21orf88 ENST00000380612 human ensembl 69_37n -1 putative missense c.196 p.V66L 0.277 NULL NULL - no_errors C21orf88 HGNC ENSG00000184809 200 0 0.00 90 98 52.13 - - - C22orf31 0 genome.wustl.edu 37 22 29455033 29455033 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 29455033 29455033 A G SNP C22orf31 ENST00000216071 human ensembl 69_37n -1 known silent c.570 p.P190 0.038 NULL NULL - no_errors C22orf31 HGNC ENSG00000100249 151 0 0.00 101 61 37.65 - - - C22orf42 0 genome.wustl.edu 37 22 32545534 32545534 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 32545534 32545534 C T SNP C22orf42 ENST00000382097 human ensembl 69_37n -1 known missense c.749 p.R250Q 0.045 NULL NULL - no_errors C22orf42 HGNC ENSG00000205856 70 0 0.00 64 33 34.02 - - - C2CD3 0 genome.wustl.edu 37 11 73753145 73753145 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 73753145 73753145 T C SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known missense c.5614 p.T1872A 0.089 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 470 0 0.00 308 177 36.42 - - - C3P1 0 genome.wustl.edu 37 19 10165983 10165983 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 10165983 10165983 A G SNP C3P1 ENST00000495140 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors C3P1 HGNC ENSG00000167798 180 0 0.00 46 129 71.27 - - - C4orf21 0 genome.wustl.edu 37 4 113539094 113539094 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 113539094 113539094 T C SNP C4orf21 ENST00000505019 human ensembl 69_37n -1 known missense c.2104 p.S702G 0.000 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 112 0 0.00 66 42 38.89 - - - C5orf42 0 genome.wustl.edu 37 5 37244502 37244502 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 37244502 37244502 A G SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.545 p.V182A 0.873 superfamily_Quino_amine_DH_bsu superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 96 0 0.00 73 37 33.64 - - - C5orf45 0 genome.wustl.edu 37 5 179271182 179271182 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 179271182 179271182 T C SNP C5orf45 ENST00000292586 human ensembl 69_37n -1 known silent c.261 p.G87 0.000 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 271 1 0.37 189 102 35.05 - - - C7orf49 0 genome.wustl.edu 37 7 134851534 134851534 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 134851534 134851534 G A SNP C7orf49 ENST00000393114 human ensembl 69_37n -1 known silent c.303 p.H101 0.001 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 111 0 0.00 74 60 44.78 - - - C7orf63 0 genome.wustl.edu 37 7 89929202 89929202 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 89929202 89929202 A G SNP C7orf63 ENST00000389297 human ensembl 69_37n +1 known missense c.1879 p.N627D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 101 1 0.98 75 65 46.43 - - - C8orf74 0 genome.wustl.edu 37 8 10555231 10555231 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 10555231 10555231 T C SNP C8orf74 ENST00000304519 human ensembl 69_37n +1 known missense c.364 p.Y122H 0.996 NULL NULL - no_errors C8orf74 HGNC ENSG00000171060 251 0 0.00 156 86 35.39 - - - C9orf131 0 genome.wustl.edu 37 9 35043030 35043030 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 35043030 35043030 C T SNP C9orf131 ENST00000312292 human ensembl 69_37n +1 known missense c.404 p.A135V 0.011 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 218 1 0.46 143 75 34.40 - - - C9orf135 0 genome.wustl.edu 37 9 72459539 72459539 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 72459539 72459539 C A SNP C9orf135 ENST00000377197 human ensembl 69_37n +1 known missense c.259 p.P87T 0.424 NULL NULL - no_errors C9orf135 HGNC ENSG00000204711 109 0 0.00 76 53 41.09 - - - CACHD1 0 genome.wustl.edu 37 1 65143941 65143942 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 65143941 65143942 - G INS CACHD1 ENST00000371073 human ensembl 69_37n +1 known frame_shift_ins c.3192_3193 p.I1066fs 0.426:1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 314 0 0.00 223 74 24.92 - - - CACNA1A 0 genome.wustl.edu 37 19 13397466 13397466 + Missense_Mutation SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 13397466 13397466 C G SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.3404 p.G1135A 0.996 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 157 0 0.00 65 31 32.29 - - - CACNA1B 0 genome.wustl.edu 37 9 140919538 140919538 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 140919538 140919538 T C SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known missense c.3203 p.M1068T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 113 0 0.00 68 54 44.26 - - - CACNA1C 0 genome.wustl.edu 37 12 2775892 2775892 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 2775892 2775892 C T SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known missense c.4567 p.R1523W 0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 119 0 0.00 83 45 35.16 - - - CACNA1E 0 genome.wustl.edu 37 1 181705572 181705572 + Splice_Site SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 181705572 181705572 T C SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known splice_site c.3422+2 e22+2 1.000 - - - no_errors CACNA1E HGNC ENSG00000198216 304 1 0.33 571 138 19.46 - - - CACNA1F 0 genome.wustl.edu 37 X 49088141 49088141 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 49088141 49088141 T C SNP CACNA1F ENST00000376265 human ensembl 69_37n -1 known missense c.274 p.K92E 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 165 1 0.60 94 56 37.33 - - - CACNA1H 0 genome.wustl.edu 37 16 1261574 1261574 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 1261574 1261574 C T SNP CACNA1H ENST00000348261 human ensembl 69_37n +1 known nonsense c.4444 p.R1482* 0.929 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 48 0 0.00 24 18 42.86 - - - CACNA1S 0 genome.wustl.edu 37 1 201012645 201012645 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 201012645 201012645 C T SNP CACNA1S ENST00000362061 human ensembl 69_37n -1 known silent c.4812 p.L1604 0.989 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 177 0 0.00 284 86 23.24 - - - CACNG7 0 genome.wustl.edu 37 19 54445489 54445489 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 54445489 54445489 A G SNP CACNG7 ENST00000222212 human ensembl 69_37n +1 known missense c.770 p.N257S 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 147 0 0.00 118 39 24.53 - - - CADPS 0 genome.wustl.edu 37 3 62739237 62739237 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 62739237 62739237 G A SNP CADPS ENST00000383710 human ensembl 69_37n -1 known missense c.767 p.A256V 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 69 0 0.00 64 36 34.95 - - - CAMK1G 0 genome.wustl.edu 37 1 209785393 209785393 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 209785393 209785393 G A SNP CAMK1G ENST00000009105 human ensembl 69_37n +1 known missense c.1172 p.C391Y 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK1G HGNC ENSG00000008118 51 0 0.00 107 23 17.42 - - - CAMK2D 0 genome.wustl.edu 37 4 114680565 114680566 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 114680565 114680566 - C INS CAMK2D ENST00000454265 human ensembl 69_37n -1 known frame_shift_ins c.71_70 p.A24fs 1.000:1.000 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_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2D HGNC ENSG00000145349 100 0 0.00 97 38 28.15 - - - CAMKMT 0 genome.wustl.edu 37 2 44933460 44933460 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 44933460 44933460 A G SNP CAMKMT ENST00000378494 human ensembl 69_37n +1 known missense c.472 p.T158A 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors CAMKMT HGNC ENSG00000143919 672 1 0.15 442 259 36.95 - - - CAMSAP1 0 genome.wustl.edu 37 9 138719421 138719421 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 138719421 138719421 A G SNP CAMSAP1 ENST00000409386 human ensembl 69_37n -1 known missense c.1088 p.V363A 0.066 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 155 0 0.00 102 61 37.42 - - - CAPZB 0 genome.wustl.edu 37 1 19683162 19683162 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 19683162 19683162 G A SNP CAPZB ENST00000433834 human ensembl 69_37n -1 known silent c.642 p.G214 0.983 pfam_WASH_F-actin_cap_beta pfam_WASH_F-actin_cap_beta,prints_WASH_F-actin_cap_beta - no_errors CAPZB HGNC ENSG00000077549 209 0 0.00 139 96 40.34 - - - CARS 0 genome.wustl.edu 37 11 3023228 3023228 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 3023228 3023228 G A SNP CARS ENST00000380525 human ensembl 69_37n -1 known missense c.2333 p.T778I 0.000 NULL pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt - no_errors CARS HGNC ENSG00000110619 178 0 0.00 113 57 33.53 - - - CASC5 0 genome.wustl.edu 37 15 40914893 40914893 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 40914893 40914893 A G SNP CASC5 ENST00000346991 human ensembl 69_37n +1 known missense c.2509 p.S837G 0.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 136 1 0.73 107 65 37.79 - - - CASKIN2 0 genome.wustl.edu 37 17 73498155 73498156 + Frame_Shift_Del DEL CT CT - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 73498155 73498156 CT - DEL CASKIN2 ENST00000321617 human ensembl 69_37n -1 known frame_shift_del c.3000_2999 p.E1000fs 1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain - no_errors CASKIN2 HGNC ENSG00000177303 83 0 0.00 141 21 12.88 - - - CASP8 0 genome.wustl.edu 37 2 202131302 202131302 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 202131302 202131302 G A SNP CASP8 ENST00000358485 human ensembl 69_37n +1 known silent c.270 p.P90 0.000 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 172 1 0.58 110 75 40.54 - - - CAV1 0 genome.wustl.edu 37 7 116166683 116166683 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 116166683 116166683 C T SNP CAV1 ENST00000341049 human ensembl 69_37n +1 known silent c.135 p.H45 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV1 HGNC ENSG00000105974 180 0 0.00 145 80 35.56 - - - CBWD3 0 genome.wustl.edu 37 9 70871838 70871838 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 70871838 70871838 T C SNP CBWD3 ENST00000360171 human ensembl 69_37n +1 known silent c.432 p.G144 1.000 pfam_Cbl_biosynth_CobW-like pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD3 HGNC ENSG00000196873 435 0 0.00 408 86 17.41 - - - CC2D2A 0 genome.wustl.edu 37 4 15482442 15482442 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 15482442 15482442 G T SNP CC2D2A ENST00000413206 human ensembl 69_37n +1 known missense c.238 p.G80C 0.480 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors CC2D2A HGNC ENSG00000048342 76 0 0.00 46 32 41.03 - - - CCDC120 0 genome.wustl.edu 37 X 48921410 48921410 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 48921410 48921410 C - DEL CCDC120 ENST00000422185 human ensembl 69_37n +1 known frame_shift_del c.202 p.P69fs 1.000 pfam_DUF3338 pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 34 0 0.00 24 12 30.77 - - - CCDC14 0 genome.wustl.edu 37 3 123650066 123650066 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 123650066 123650066 A G SNP CCDC14 ENST00000488653 human ensembl 69_37n -1 known missense c.1805 p.L602P 0.996 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 183 0 0.00 142 72 33.64 - - - CCDC155 0 genome.wustl.edu 37 19 49913062 49913062 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 49913062 49913062 A G SNP CCDC155 ENST00000447857 human ensembl 69_37n +1 known missense c.1199 p.Q400R 0.989 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 207 0 0.00 128 64 33.33 - - - CCDC158 0 genome.wustl.edu 37 4 77247091 77247091 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 77247091 77247091 T C SNP CCDC158 ENST00000388914 human ensembl 69_37n -1 known missense c.3076 p.T1026A 0.411 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 294 0 0.00 233 132 36.16 - - - CCDC172 0 genome.wustl.edu 37 10 118101695 118101695 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 118101695 118101695 G A SNP CCDC172 ENST00000333254 human ensembl 69_37n +1 known missense c.430 p.A144T 0.999 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 58 0 0.00 38 20 34.48 - - - CCDC50 0 genome.wustl.edu 37 3 191087808 191087808 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 191087808 191087808 A G SNP CCDC50 ENST00000392456 human ensembl 69_37n +1 known missense c.431 p.Y144C 0.983 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 152 1 0.65 92 67 42.14 - - - CCNB1IP1 0 genome.wustl.edu 37 14 20781842 20781842 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 20781842 20781842 A G SNP CCNB1IP1 ENST00000353689 human ensembl 69_37n -1 known missense c.416 p.M139T 1.000 NULL NULL - no_errors CCNB1IP1 HGNC ENSG00000100814 276 0 0.00 189 115 37.83 - - - CCNYL2 0 genome.wustl.edu 37 10 42965606 42965606 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 42965606 42965606 G A SNP CCNYL2 ENST00000475714 human ensembl 69_37n -1 known rna NULL NULL 0.970 - - - no_errors CCNYL2 HGNC ENSG00000182632 104 0 0.00 69 36 34.29 - - - CCSAP 0 genome.wustl.edu 37 1 229460857 229460857 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 229460857 229460857 A - DEL CCSAP ENST00000483092 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors CCSAP HGNC ENSG00000154429 34 0 0.00 55 24 28.92 - - - CCT5 0 genome.wustl.edu 37 5 10261709 10261709 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 10261709 10261709 G T SNP CCT5 ENST00000280326 human ensembl 69_37n +1 known missense c.1031 p.R344M 0.979 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 141 0 0.00 109 76 41.08 - - - CD163L1 0 genome.wustl.edu 37 12 7531781 7531781 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 7531781 7531781 T C SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.2164 p.N722D 0.010 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 228 1 0.44 162 105 39.33 - - - CD4 0 genome.wustl.edu 37 12 6924043 6924043 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 6924043 6924043 G - DEL CD4 ENST00000011653 human ensembl 69_37n +1 known frame_shift_del c.492 p.K167fs 0.000 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 149 0 0.00 56 97 60.62 - - - CDAN1 0 genome.wustl.edu 37 15 43028135 43028135 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 43028135 43028135 G A SNP CDAN1 ENST00000356231 human ensembl 69_37n -1 known silent c.711 p.G237 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 256 0 0.00 214 140 39.33 - - - CDC42BPA 0 genome.wustl.edu 37 1 227216436 227216436 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 227216436 227216436 T C SNP CDC42BPA ENST00000334218 human ensembl 69_37n -1 known missense c.4249 p.I1417V 1.000 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 223 1 0.45 415 70 14.37 - - - CDC42BPA 0 genome.wustl.edu 37 1 227219043 227219043 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 227219043 227219043 C T SNP CDC42BPA ENST00000334218 human ensembl 69_37n -1 known missense c.3626 p.S1209N 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 372 0 0.00 708 129 15.38 - - - CDH10 0 genome.wustl.edu 37 5 24488214 24488214 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 24488214 24488214 G T SNP CDH10 ENST00000264463 human ensembl 69_37n -1 known missense c.1925 p.P642H 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 64 0 0.00 22 38 63.33 - - - CDK13 0 genome.wustl.edu 37 7 40117689 40117689 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 40117689 40117689 T C SNP CDK13 ENST00000181839 human ensembl 69_37n +1 known missense c.2866 p.Y956H 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 CDK13 HGNC ENSG00000065883 452 0 0.00 309 167 35.08 - - - CDK2AP2 0 genome.wustl.edu 37 11 67274438 67274438 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 67274438 67274438 G A SNP CDK2AP2 ENST00000301488 human ensembl 69_37n -1 known missense c.359 p.T120I 1.000 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 - no_errors CDK2AP2 HGNC ENSG00000167797 81 0 0.00 46 28 37.84 - - - CDT1 0 genome.wustl.edu 37 16 88871904 88871904 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 88871904 88871904 C A SNP CDT1 ENST00000301019 human ensembl 69_37n +1 known missense c.545 p.P182Q 0.997 NULL pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC ENSG00000167513 34 0 0.00 16 13 44.83 - - - CECR2 0 genome.wustl.edu 37 22 17978531 17978531 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 17978531 17978531 C T SNP CECR2 ENST00000400573 human ensembl 69_37n +1 novel silent c.429 p.Y143 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 248 0 0.00 192 88 31.43 - - - CELA3B 0 genome.wustl.edu 37 1 22303551 22303551 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 22303551 22303551 A G SNP CELA3B ENST00000337107 human ensembl 69_37n +1 known missense c.19 p.S7G 0.517 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA3B HGNC ENSG00000219073 561 0 0.00 345 200 36.70 - - - CELF4 0 genome.wustl.edu 37 18 34854368 34854368 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 34854368 34854368 C T SNP CELF4 ENST00000361795 human ensembl 69_37n -1 known missense c.707 p.R236H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 31 0 0.00 12 16 57.14 - - - CENPH 0 genome.wustl.edu 37 5 68492902 68492902 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 68492902 68492902 A - DEL CENPH ENST00000283006 human ensembl 69_37n +1 known frame_shift_del c.337 p.N115fs 0.089 NULL pfam_Centromere_CenpH - no_errors CENPH HGNC ENSG00000153044 176 0 0.00 106 53 32.52 - - - CEP152 0 genome.wustl.edu 37 15 49081165 49081165 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 49081165 49081165 G T SNP CEP152 ENST00000380950 human ensembl 69_37n -1 known missense c.1006 p.L336M 0.853 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 328 0 0.00 264 166 38.52 - - - CEP41 0 genome.wustl.edu 37 7 130040658 130040658 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 130040658 130040658 T - DEL CEP41 ENST00000223208 human ensembl 69_37n -1 known frame_shift_del c.647 p.N216fs 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors CEP41 HGNC ENSG00000106477 114 0 0.00 89 36 28.57 - - - CEP78 0 genome.wustl.edu 37 9 80858512 80858512 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 80858512 80858512 T C SNP CEP78 ENST00000376597 human ensembl 69_37n +1 known silent c.738 p.C246 0.429 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 414 0 0.00 328 165 33.40 - - - CFHR5 0 genome.wustl.edu 37 1 196971637 196971637 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 196971637 196971637 G A SNP CFHR5 ENST00000367414 human ensembl 69_37n +1 known silent c.1245 p.P415 0.971 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 155 0 0.00 314 81 20.45 - - - CFTR 0 genome.wustl.edu 37 7 117243699 117243699 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 117243699 117243699 A G SNP CFTR ENST00000003084 human ensembl 69_37n +1 known missense c.2771 p.D924G 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 460 1 0.22 338 186 35.43 - - - CGN 0 genome.wustl.edu 37 1 151491178 151491178 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 151491178 151491178 T C SNP CGN ENST00000271636 human ensembl 69_37n +1 known silent c.183 p.A61 0.049 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 225 0 0.00 396 75 15.92 - - - CGN 0 genome.wustl.edu 37 1 151493130 151493130 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 151493130 151493130 T C SNP CGN ENST00000271636 human ensembl 69_37n +1 known missense c.1103 p.V368A 0.997 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 321 1 0.31 593 120 16.60 - - - CGN 0 genome.wustl.edu 37 1 151495913 151495913 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 151495913 151495913 C T SNP CGN ENST00000271636 human ensembl 69_37n +1 known missense c.1144 p.R382W 0.999 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 129 0 0.00 215 54 20.00 - - - CHD3 0 genome.wustl.edu 37 17 7793748 7793748 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 7793748 7793748 A - DEL CHD3 ENST00000574022 human ensembl 69_37n +1 known rna NULL NULL 0.454 - - - no_errors CHD3 HGNC ENSG00000170004 18 0 0.00 3 14 63.64 - - - CHD8 0 genome.wustl.edu 37 14 21870134 21870134 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 21870134 21870134 T - DEL CHD8 ENST00000399982 human ensembl 69_37n -1 known frame_shift_del c.4044 p.G1349fs 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 268 0 0.00 199 95 31.46 - - - CHD9 0 genome.wustl.edu 37 16 53283933 53283933 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 53283933 53283933 A G SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known silent c.3816 p.T1272 0.966 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 222 0 0.00 151 87 36.55 - - - CHIT1 0 genome.wustl.edu 37 1 203188901 203188901 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 203188901 203188901 C T SNP CHIT1 ENST00000367229 human ensembl 69_37n -1 known missense c.806 p.R269H 0.107 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIT1 HGNC ENSG00000133063 93 0 0.00 151 32 17.49 - - - CHP1 0 genome.wustl.edu 37 15 41571019 41571019 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 41571019 41571019 G A SNP CHP1 ENST00000334660 human ensembl 69_37n +1 known missense c.466 p.A156T 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CHP1 HGNC ENSG00000187446 465 0 0.00 279 170 37.86 - - - CHRM3 0 genome.wustl.edu 37 1 240071128 240071128 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 240071128 240071128 C T SNP CHRM3 ENST00000255380 human ensembl 69_37n +1 known missense c.377 p.T126M 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 185 0 0.00 320 64 16.58 - - - CHRNA7 0 genome.wustl.edu 37 15 32450726 32450726 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 32450726 32450726 C T SNP CHRNA7 ENST00000454250 human ensembl 69_37n +1 known silent c.799 p.L267 1.000 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 CHRNA7 HGNC ENSG00000175344 342 2 0.58 308 108 25.96 - - - CHRND 0 genome.wustl.edu 37 2 233396354 233396354 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 233396354 233396354 G - DEL CHRND ENST00000258385 human ensembl 69_37n +1 known frame_shift_del c.1035 p.V347fs 0.012 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 127 0 0.00 85 49 36.57 - - - CHST12 0 genome.wustl.edu 37 7 2472871 2472871 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 2472871 2472871 G A SNP CHST12 ENST00000258711 human ensembl 69_37n +1 known silent c.597 p.P199 0.019 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST12 HGNC ENSG00000136213 21 0 0.00 8 9 52.94 - - - CHST15 0 genome.wustl.edu 37 10 125801930 125801930 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 125801930 125801930 C T SNP CHST15 ENST00000346248 human ensembl 69_37n -1 known missense c.920 p.R307H 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors CHST15 HGNC ENSG00000182022 168 0 0.00 119 79 39.70 - - - CHST5 0 genome.wustl.edu 37 16 75563186 75563186 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 75563186 75563186 C T SNP CHST5 ENST00000541075 human ensembl 69_37n -1 known missense c.1115 p.R372H 0.513 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 19 0 0.00 15 7 31.82 - - - CKAP2L 0 genome.wustl.edu 37 2 113513917 113513917 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 113513917 113513917 T C SNP CKAP2L ENST00000302450 human ensembl 69_37n -1 known missense c.1031 p.Y344C 0.000 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 344 0 0.00 204 151 42.54 - - - CKM 0 genome.wustl.edu 37 19 45822868 45822868 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 45822868 45822868 G A SNP CKM ENST00000221476 human ensembl 69_37n -1 known missense c.104 p.T35I 0.999 pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKM HGNC ENSG00000104879 624 1 0.16 394 233 37.10 - - - CLASP1 0 genome.wustl.edu 37 2 122363401 122363401 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 122363401 122363401 C T SNP CLASP1 ENST00000263710 human ensembl 69_37n -1 known missense c.71 p.G24D 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 333 1 0.30 228 136 37.16 - - - CLCNKA 0 genome.wustl.edu 37 1 16349186 16349186 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 16349186 16349186 C A SNP CLCNKA ENST00000331433 human ensembl 69_37n +1 known silent c.72 p.P24 0.710 prints_Cl_channel-K pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 106 0 0.00 61 40 39.60 - - - CLDN4 0 genome.wustl.edu 37 7 73245959 73245959 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 73245959 73245959 T C SNP CLDN4 ENST00000340958 human ensembl 69_37n +1 known missense c.428 p.I143T 0.998 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4 - no_errors CLDN4 HGNC ENSG00000189143 148 1 0.67 102 48 32.00 - - - CLEC14A 0 genome.wustl.edu 37 14 38724270 38724270 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 38724270 38724270 G A SNP CLEC14A ENST00000342213 human ensembl 69_37n -1 known missense c.958 p.P320S 0.005 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 45 0 0.00 22 11 33.33 - - - CLRN3 0 genome.wustl.edu 37 10 129690895 129690895 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 129690895 129690895 T C SNP CLRN3 ENST00000368671 human ensembl 69_37n -1 known missense c.154 p.T52A 0.156 NULL NULL - no_errors CLRN3 HGNC ENSG00000180745 267 0 0.00 164 113 40.79 - - - CLTC 0 genome.wustl.edu 37 17 57760139 57760139 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 57760139 57760139 T C SNP CLTC ENST00000269122 human ensembl 69_37n +1 known silent c.3750 p.T1250 0.620 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 289 1 0.34 623 111 15.12 - - - CNGA3 0 genome.wustl.edu 37 2 99013208 99013209 + Frame_Shift_Ins INS - - AA TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 99013208 99013209 - AA INS CNGA3 ENST00000272602 human ensembl 69_37n +1 known frame_shift_ins c.1575_1576 p.L526fs 1.000:1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 168 0 0.00 102 39 27.66 - - - CNN3 0 genome.wustl.edu 37 1 95363452 95363452 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 95363452 95363452 G T SNP CNN3 ENST00000370206 human ensembl 69_37n -1 known missense c.836 p.P279H 0.999 NULL pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 563 0 0.00 336 222 39.78 - - - CNOT1 0 genome.wustl.edu 37 16 58581178 58581178 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 58581178 58581178 A G SNP CNOT1 ENST00000317147 human ensembl 69_37n -1 known missense c.3662 p.L1221P 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 123 0 0.00 93 44 32.12 - - - CNOT3 0 genome.wustl.edu 37 19 54656170 54656170 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 54656170 54656170 A G SNP CNOT3 ENST00000221232 human ensembl 69_37n +1 known missense c.1711 p.I571V 0.994 pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 89 0 0.00 56 30 34.88 - - - CNTN1 0 genome.wustl.edu 37 12 41419005 41419005 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 41419005 41419005 C T SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known silent c.2577 p.V859 0.102 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 88 0 0.00 64 43 40.19 - - - CNTN2 0 genome.wustl.edu 37 1 205028245 205028245 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 205028245 205028245 C T SNP CNTN2 ENST00000331830 human ensembl 69_37n +1 known missense c.521 p.P174L 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC ENSG00000184144 126 0 0.00 170 38 18.27 - - - CNTN2 0 genome.wustl.edu 37 1 205033454 205033454 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 205033454 205033454 C T SNP CNTN2 ENST00000331830 human ensembl 69_37n +1 known silent c.1245 p.L415 0.675 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC ENSG00000184144 162 1 0.61 285 67 19.03 - - - CNTN4 0 genome.wustl.edu 37 3 3067928 3067928 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 3067928 3067928 C T SNP CNTN4 ENST00000397461 human ensembl 69_37n +1 known silent c.1629 p.D543 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 369 0 0.00 271 123 31.22 - - - CNTRL 0 genome.wustl.edu 37 9 123930433 123930433 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 123930433 123930433 A G SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known silent c.5904 p.K1968 0.260 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 155 0 0.00 114 65 36.31 - - - CNTROB 0 genome.wustl.edu 37 17 7842981 7842981 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 7842981 7842981 C T SNP CNTROB ENST00000380262 human ensembl 69_37n +1 known nonsense c.1078 p.Q360* 0.984 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 71 0 0.00 74 44 37.29 - - - COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 69_37n -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 73 0 0.00 60 31 33.70 - - - COG1 0 genome.wustl.edu 37 17 71196087 71196087 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 71196087 71196087 C T SNP COG1 ENST00000299886 human ensembl 69_37n +1 known missense c.997 p.P333S 1.000 NULL pfam_Vps51 - no_errors COG1 HGNC ENSG00000166685 274 0 0.00 508 97 16.01 - - - COG1 0 genome.wustl.edu 37 17 71197684 71197684 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 71197684 71197684 A G SNP COG1 ENST00000299886 human ensembl 69_37n +1 known missense c.1718 p.Q573R 1.000 NULL pfam_Vps51 - no_errors COG1 HGNC ENSG00000166685 72 0 0.00 162 38 18.91 - - - COG2 0 genome.wustl.edu 37 1 230819335 230819335 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 230819335 230819335 G A SNP COG2 ENST00000366669 human ensembl 69_37n +1 known silent c.1182 p.A394 0.065 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 339 0 0.00 714 132 15.58 - - - COIL 0 genome.wustl.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 55028016 55028016 T - DEL COIL ENST00000240316 human ensembl 69_37n -1 known frame_shift_del c.587 p.K196fs 0.030 NULL NULL - no_errors COIL HGNC ENSG00000121058 597 2 0.33 995 209 17.16 - - - COL10A1 0 genome.wustl.edu 37 6 116442918 116442918 + Nonsense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 116442918 116442918 C A SNP COL10A1 ENST00000243222 human ensembl 69_37n -1 known nonsense c.361 p.G121* 1.000 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 145 0 0.00 92 69 42.86 - - - COL13A1 0 genome.wustl.edu 37 10 71677050 71677050 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 71677050 71677050 A G SNP COL13A1 ENST00000356340 human ensembl 69_37n +1 known silent c.957 p.E319 1.000 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 91 0 0.00 57 46 44.23 - - - COL18A1 0 genome.wustl.edu 37 21 46909426 46909426 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 46909426 46909426 G - DEL COL18A1 ENST00000359759 human ensembl 69_37n +1 known frame_shift_del c.3195 p.A1067fs 0.001 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 57 0 0.00 45 11 19.64 - - - COL20A1 0 genome.wustl.edu 37 20 61959823 61959823 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 61959823 61959823 C T SNP COL20A1 ENST00000326996 human ensembl 69_37n +1 known missense c.3850 p.R1284C 0.001 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 41 0 0.00 20 20 48.78 - - - COL24A1 0 genome.wustl.edu 37 1 86590679 86590679 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 86590679 86590679 A G SNP COL24A1 ENST00000370571 human ensembl 69_37n -1 known missense c.1340 p.L447P 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 336 2 0.59 237 121 33.80 - - - COL3A1 0 genome.wustl.edu 37 2 189874938 189874938 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 189874938 189874938 A T SNP COL3A1 ENST00000304636 human ensembl 69_37n +1 known missense c.3858 p.K1286N 0.024 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 311 0 0.00 170 116 40.56 - - - COL4A2 0 genome.wustl.edu 37 13 111138064 111138064 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 111138064 111138064 G T SNP COL4A2 ENST00000360467 human ensembl 69_37n +1 known missense c.3088 p.G1030C 0.513 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 49 0 0.00 41 26 38.81 - - - COL4A5 0 genome.wustl.edu 37 X 107935990 107935990 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 107935990 107935990 G A SNP COL4A5 ENST00000328300 human ensembl 69_37n +1 known missense c.4541 p.S1514N 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 334 1 0.30 212 138 39.43 - - - COL5A1 0 genome.wustl.edu 37 9 137702110 137702110 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 137702110 137702110 G A SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known missense c.3484 p.G1162R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 219 0 0.00 137 99 41.95 - - - COL6A3 0 genome.wustl.edu 37 2 238234210 238234210 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 238234210 238234210 G A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known silent c.9486 p.C3162 0.005 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 331 1 0.30 232 132 36.16 - - - COL6A5 0 genome.wustl.edu 37 3 130114005 130114005 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 130114005 130114005 A - DEL COL6A5 ENST00000265379 human ensembl 69_37n +1 known frame_shift_del c.3265 p.V1091fs 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 220 0 0.00 181 90 32.14 - - - COL6A5 0 genome.wustl.edu 37 3 130187729 130187729 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 130187729 130187729 T C SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.6881 p.F2294S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 225 0 0.00 153 92 37.40 - - - COL9A1 0 genome.wustl.edu 37 6 70984477 70984477 + Splice_Site SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 70984477 70984477 T C SNP COL9A1 ENST00000357250 human ensembl 69_37n -1 known splice_site c.976-2 e11-2 0.973 - - - no_errors COL9A1 HGNC ENSG00000112280 260 1 0.38 176 104 37.01 - - - COPB1 0 genome.wustl.edu 37 11 14512112 14512112 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 14512112 14512112 T C SNP COPB1 ENST00000249923 human ensembl 69_37n -1 known missense c.605 p.Q202R 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_bsu pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_bsu - no_errors COPB1 HGNC ENSG00000129083 223 0 0.00 181 93 33.82 - - - CORO1B 0 genome.wustl.edu 37 11 67209552 67209552 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 67209552 67209552 C T SNP CORO1B ENST00000341356 human ensembl 69_37n -1 known missense c.209 p.R70H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 27 0 0.00 11 10 47.62 - - - COX20 0 genome.wustl.edu 37 1 245005230 245005230 + RNA DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 245005230 245005230 T - DEL COX20 ENST00000464757 human ensembl 69_37n +1 known rna NULL NULL 0.346 - - - no_errors COX20 HGNC ENSG00000203667 191 1 0.52 325 65 16.41 - - - CPZ 0 genome.wustl.edu 37 4 8609110 8609110 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 8609110 8609110 C - DEL CPZ ENST00000360986 human ensembl 69_37n +1 known frame_shift_del c.1185 p.Q397fs 0.997 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14 - no_errors CPZ HGNC ENSG00000109625 163 0 0.00 96 54 35.76 - - - CR2 0 genome.wustl.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 207642043 207642044 - C INS CR2 ENST00000367057 human ensembl 69_37n +1 known frame_shift_ins c.617_618 p.T209fs 0.000:0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 629 0 0.00 1122 206 15.51 - - - CREB3L4 0 genome.wustl.edu 37 1 153945733 153945733 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 153945733 153945733 A G SNP CREB3L4 ENST00000271889 human ensembl 69_37n +1 known missense c.806 p.H269R 1.000 pfam_bZIP_1,smart_bZIP,pfscan_bZIP pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC ENSG00000143578 196 0 0.00 378 77 16.85 - - - CRIP1 0 genome.wustl.edu 37 14 105954583 105954583 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 105954583 105954583 G A SNP CRIP1 ENST00000553228 human ensembl 69_37n +1 known nonsense c.35 p.W12* 0.994 pfam_Znf_LIM pfam_Znf_LIM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AL928654.7 Clone_based_vega_gene ENSG00000257341 95 0 0.00 51 33 39.29 - - - CRISP1 0 genome.wustl.edu 37 6 49806200 49806200 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 49806200 49806200 G A SNP CRISP1 ENST00000335847 human ensembl 69_37n -1 known missense c.572 p.T191I 0.000 NULL pfam_Cysteine_rich_secretory,pfam_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors CRISP1 HGNC ENSG00000124812 340 0 0.00 257 146 36.23 - - - CRTC1 0 genome.wustl.edu 37 19 18887993 18887993 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 18887993 18887993 C - DEL CRTC1 ENST00000338797 human ensembl 69_37n +1 known frame_shift_del c.1754 p.S588fs 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 24 0 0.00 6 17 70.83 - - - CRYBA1 0 genome.wustl.edu 37 17 27577217 27577217 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 27577217 27577217 G C SNP CRYBA1 ENST00000225387 human ensembl 69_37n +1 known missense c.114 p.Q38H 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA1 HGNC ENSG00000108255 316 0 0.00 610 115 15.86 - - - CSN3 0 genome.wustl.edu 37 4 71110584 71110584 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 71110584 71110584 T - DEL CSN3 ENST00000304954 human ensembl 69_37n +1 known frame_shift_del c.48 p.L18fs 0.948 pfam_Casein_kappa,pirsf_Casein_kappa pfam_Casein_kappa,pirsf_Casein_kappa - no_errors CSN3 HGNC ENSG00000171209 145 0 0.00 115 67 36.22 - - - CSNK2A1 0 genome.wustl.edu 37 20 469361 469361 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 469361 469361 T C SNP CSNK2A1 ENST00000217244 human ensembl 69_37n -1 known missense c.785 p.N262S 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK2A1 HGNC ENSG00000101266 364 0 0.00 265 151 36.30 - - - CSRNP2 0 genome.wustl.edu 37 12 51467703 51467703 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 51467703 51467703 T C SNP CSRNP2 ENST00000228515 human ensembl 69_37n -1 known missense c.314 p.Y105C 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 121 0 0.00 68 63 48.09 - - - CT47B1 0 genome.wustl.edu 37 X 120008753 120008753 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 120008753 120008753 C T SNP CT47B1 ENST00000371311 human ensembl 69_37n -1 known missense c.772 p.E258K 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 280 1 0.35 168 93 35.36 - - - CTCFL 0 genome.wustl.edu 37 20 56098943 56098943 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 56098943 56098943 C T SNP CTCFL ENST00000423479 human ensembl 69_37n -1 known missense c.319 p.G107R 0.013 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 112 1 0.88 60 35 36.84 - - - CTSE 0 genome.wustl.edu 37 1 206317585 206317585 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 206317585 206317585 G A SNP CTSE ENST00000361052 human ensembl 69_37n +1 known silent c.9 p.T3 0.000 superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors CTSE HGNC ENSG00000196188 259 0 0.00 480 82 14.51 - - - CTSK 0 genome.wustl.edu 37 1 150779186 150779186 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 150779186 150779186 G T SNP CTSK ENST00000271651 human ensembl 69_37n -1 known silent c.96 p.T32 0.848 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSK HGNC ENSG00000143387 454 0 0.00 1003 206 17.04 - - - CUBN 0 genome.wustl.edu 37 10 16981063 16981063 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 16981063 16981063 A G SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.5632 p.Y1878H 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 445 0 0.00 301 225 42.78 - - - CUL2 0 genome.wustl.edu 37 10 35327850 35327850 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 35327850 35327850 T - DEL CUL2 ENST00000537177 human ensembl 69_37n -1 known frame_shift_del c.932 p.N311fs 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 CUL2 HGNC ENSG00000108094 431 4 0.91 297 158 34.42 - - - CUL3 0 genome.wustl.edu 37 2 225376276 225376276 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 225376276 225376276 T C SNP CUL3 ENST00000264414 human ensembl 69_37n -1 known silent c.678 p.A226 0.999 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 CUL3 HGNC ENSG00000036257 193 0 0.00 142 86 37.72 - - - CYB561D2 0 genome.wustl.edu 37 3 50391135 50391135 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 50391135 50391135 T C SNP CYB561D2 ENST00000232508 human ensembl 69_37n +1 known missense c.629 p.V210A 1.000 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561D2 HGNC ENSG00000114395 47 0 0.00 4 31 88.57 - - - CYB5R1 0 genome.wustl.edu 37 1 202935903 202935903 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 202935903 202935903 A T SNP CYB5R1 ENST00000367249 human ensembl 69_37n -1 known missense c.139 p.Y47N 1.000 superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC ENSG00000159348 58 0 0.00 107 23 17.69 - - - CYBASC3 0 genome.wustl.edu 37 11 61120477 61120477 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 61120477 61120477 A G SNP CYBASC3 ENST00000426130 human ensembl 69_37n -1 known silent c.579 p.N193 0.517 pfam_Cyt_b561_euk,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYBASC3 HGNC ENSG00000162144 160 1 0.62 112 65 36.72 - - - CYFIP1 0 genome.wustl.edu 37 15 22925811 22925811 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 22925811 22925811 C T SNP CYFIP1 ENST00000313077 human ensembl 69_37n +1 known missense c.29 p.A10V 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 92 0 0.00 55 21 27.27 - - - CYLD 0 genome.wustl.edu 37 16 50783750 50783750 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 50783750 50783750 A G SNP CYLD ENST00000311559 human ensembl 69_37n +1 known silent c.141 p.G47 0.961 NULL pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19 - no_errors CYLD HGNC ENSG00000083799 223 0 0.00 203 107 34.52 - - - CYP17A1 0 genome.wustl.edu 37 10 104596968 104596968 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 104596968 104596968 T C SNP CYP17A1 ENST00000369887 human ensembl 69_37n -1 known missense c.151 p.N51D 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP17A1 HGNC ENSG00000148795 318 0 0.00 158 97 37.89 - - - CYP1B1-AS1 0 genome.wustl.edu 37 2 38408255 38408255 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 38408255 38408255 C T SNP CYP1B1-AS1 ENST00000413828 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CYP1B1-AS1 HGNC ENSG00000232973 36 0 0.00 19 16 45.71 - - - CYP2S1 0 genome.wustl.edu 37 19 41699228 41699228 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 41699228 41699228 C T SNP CYP2S1 ENST00000310054 human ensembl 69_37n +1 known missense c.59 p.T20M 0.004 prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 13 0 0.00 5 4 44.44 - - - CYP4A11 0 genome.wustl.edu 37 1 47406941 47406941 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 47406941 47406941 G T SNP CYP4A11 ENST00000371904 human ensembl 69_37n -1 known silent c.165 p.P55 0.022 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 88 0 0.00 43 38 46.91 - - - CYSLTR1 0 genome.wustl.edu 37 X 77528736 77528736 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 77528736 77528736 T C SNP CYSLTR1 ENST00000373304 human ensembl 69_37n -1 known missense c.508 p.N170D 0.886 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors CYSLTR1 HGNC ENSG00000173198 171 0 0.00 116 102 46.79 - - - CYSLTR1 0 genome.wustl.edu 37 X 77529168 77529168 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 77529168 77529168 A G SNP CYSLTR1 ENST00000373304 human ensembl 69_37n -1 known missense c.76 p.Y26H 0.999 prints_Cyst_leuk_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors CYSLTR1 HGNC ENSG00000173198 309 0 0.00 207 143 40.86 - - - CYTH3 0 genome.wustl.edu 37 7 6204474 6204474 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 6204474 6204474 G A SNP CYTH3 ENST00000465320 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CYTH3 HGNC ENSG00000008256 121 0 0.00 76 34 30.91 - - - DAAM2 0 genome.wustl.edu 37 6 39855321 39855321 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 39855321 39855321 G A SNP DAAM2 ENST00000274867 human ensembl 69_37n +1 known silent c.2013 p.S671 0.009 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 218 1 0.46 143 79 35.59 - - - DAB2IP 0 genome.wustl.edu 37 9 124530894 124530894 + Silent SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 124530894 124530894 C G SNP DAB2IP ENST00000408936 human ensembl 69_37n +1 known silent c.1881 p.A627 0.335 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 61 0 0.00 38 18 32.14 - - - DAP3 0 genome.wustl.edu 37 1 155701169 155701169 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155701169 155701169 T G SNP DAP3 ENST00000343043 human ensembl 69_37n +1 known missense c.866 p.L289R 0.750 pfam_Ribosomal_S23/S29_mit pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 252 0 0.00 510 103 16.78 - - - DARS2 0 genome.wustl.edu 37 1 173808666 173808666 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 173808666 173808666 C T SNP DARS2 ENST00000361951 human ensembl 69_37n +1 known silent c.1002 p.D334 0.998 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-synth_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-synth_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 294 0 0.00 589 110 15.74 - - - DBX1 0 genome.wustl.edu 37 11 20177892 20177892 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 20177892 20177892 C T SNP DBX1 ENST00000227256 human ensembl 69_37n -1 known silent c.1017 p.L339 0.976 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors DBX1 HGNC ENSG00000109851 37 0 0.00 29 12 29.27 - - - DCAF17 0 genome.wustl.edu 37 2 172325520 172325520 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 172325520 172325520 G A SNP DCAF17 ENST00000375255 human ensembl 69_37n +1 known missense c.961 p.A321T 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 166 0 0.00 90 52 36.62 - - - DCAF4L2 0 genome.wustl.edu 37 8 88885903 88885903 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 88885903 88885903 G A SNP DCAF4L2 ENST00000319675 human ensembl 69_37n -1 known silent c.297 p.Y99 0.999 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 305 0 0.00 221 102 31.58 - - - DCAF6 0 genome.wustl.edu 37 1 167960473 167960473 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 167960473 167960473 C T SNP DCAF6 ENST00000367840 human ensembl 69_37n +1 known missense c.584 p.T195M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 349 0 0.00 681 177 20.63 - - - DCHS2 0 genome.wustl.edu 37 4 155219190 155219190 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 155219190 155219190 T C SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known silent c.4911 p.E1637 0.460 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 129 0 0.00 89 48 35.04 - - - DCHS2 0 genome.wustl.edu 37 4 155237076 155237076 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 155237076 155237076 A G SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.3719 p.L1240P 0.375 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 523 0 0.00 344 216 38.50 - - - DCHS2 0 genome.wustl.edu 37 4 155410968 155410968 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 155410968 155410968 C T SNP DCHS2 ENST00000339452 human ensembl 69_37n -1 known missense c.1540 p.A514T 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 77 0 0.00 46 26 35.62 - - - DCX 0 genome.wustl.edu 37 X 110574209 110574209 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 110574209 110574209 G A SNP DCX ENST00000338081 human ensembl 69_37n -1 known missense c.1112 p.P371L 0.987 pirsf_Doublecortin_chordata pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 713 1 0.14 445 245 35.51 - - - DDB1 0 genome.wustl.edu 37 11 61081077 61081077 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 61081077 61081077 G A SNP DDB1 ENST00000301764 human ensembl 69_37n -1 known missense c.1963 p.R655C 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 360 0 0.00 241 144 37.21 - - - DDIT4L 0 genome.wustl.edu 37 4 101108933 101108933 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 101108933 101108933 G A SNP DDIT4L ENST00000273990 human ensembl 69_37n -1 known silent c.483 p.S161 0.009 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 139 0 0.00 109 54 33.13 - - - DDX18 0 genome.wustl.edu 37 2 118577295 118577295 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 118577295 118577295 A G SNP DDX18 ENST00000263239 human ensembl 69_37n +1 known silent c.441 p.T147 0.051 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 292 0 0.00 198 132 40.00 - - - DDX26B 0 genome.wustl.edu 37 X 134683685 134683685 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 134683685 134683685 G C SNP DDX26B ENST00000370752 human ensembl 69_37n +1 known missense c.861 p.W287C 1.000 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 241 0 0.00 215 124 36.58 - - - DDX26B 0 genome.wustl.edu 37 X 134713877 134713877 + Missense_Mutation SNP A A C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 134713877 134713877 A C SNP DDX26B ENST00000370752 human ensembl 69_37n +1 known missense c.2173 p.S725R 0.736 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 210 0 0.00 144 84 36.84 - - - DDX43 0 genome.wustl.edu 37 6 74104723 74104723 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 74104723 74104723 C T SNP DDX43 ENST00000370336 human ensembl 69_37n +1 known missense c.95 p.A32V 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 67 0 0.00 51 29 35.37 - - - DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 69_37n -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 321 0 0.00 625 124 16.47 - - - DEFB118 0 genome.wustl.edu 37 20 29960672 29960672 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 29960672 29960672 A - DEL DEFB118 ENST00000253381 human ensembl 69_37n +1 known frame_shift_del c.71 p.K26fs 0.000 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 204 0 0.00 142 92 38.98 - - - DEGS1 0 genome.wustl.edu 37 1 224380050 224380050 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 224380050 224380050 C T SNP DEGS1 ENST00000323699 human ensembl 69_37n +1 known missense c.842 p.A281V 0.878 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS1 HGNC ENSG00000143753 167 1 0.60 338 85 20.09 - - - DENND5A 0 genome.wustl.edu 37 11 9165018 9165018 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 9165018 9165018 G A SNP DENND5A ENST00000328194 human ensembl 69_37n -1 known nonsense c.3319 p.Q1107* 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 203 0 0.00 147 84 36.36 - - - DGCR2 0 genome.wustl.edu 37 22 19076944 19076944 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 19076944 19076944 G - DEL DGCR2 ENST00000263196 human ensembl 69_37n -1 known frame_shift_del c.139 p.L47fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 90 0 0.00 61 34 35.42 - - - DGKD 0 genome.wustl.edu 37 2 234356734 234356734 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 234356734 234356734 T C SNP DGKD ENST00000264057 human ensembl 69_37n +1 known missense c.1421 p.V474A 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 154 0 0.00 114 63 35.59 - - - DHRS13 0 genome.wustl.edu 37 17 27228067 27228067 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 27228067 27228067 G A SNP DHRS13 ENST00000378895 human ensembl 69_37n -1 known missense c.623 p.A208V 0.990 pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRS13 HGNC ENSG00000167536 45 0 0.00 75 24 24.24 - - - DHX58 0 genome.wustl.edu 37 17 40262750 40262750 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 40262750 40262750 G A SNP DHX58 ENST00000251642 human ensembl 69_37n -1 known silent c.552 p.H184 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 124 0 0.00 32 34 51.52 - - - DHX9 0 genome.wustl.edu 37 1 182841496 182841496 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 182841496 182841496 C T SNP DHX9 ENST00000367549 human ensembl 69_37n +1 known missense c.1582 p.R528C 0.989 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC ENSG00000135829 469 0 0.00 855 206 19.42 - - - DICER1 0 genome.wustl.edu 37 14 95578541 95578541 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 95578541 95578541 G A SNP DICER1 ENST00000343455 human ensembl 69_37n -1 known missense c.2084 p.A695V 1.000 pfam_Dicer_dsRNA_binding_fold pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 271 0 0.00 179 122 40.53 - - - DICER1 0 genome.wustl.edu 37 14 95597888 95597888 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 95597888 95597888 A G SNP DICER1 ENST00000343455 human ensembl 69_37n -1 known silent c.396 p.S132 0.997 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 472 1 0.21 326 182 35.83 - - - DIEXF 0 genome.wustl.edu 37 1 210012459 210012459 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 210012459 210012459 A T SNP DIEXF ENST00000491415 human ensembl 69_37n +1 known missense c.1268 p.D423V 1.000 pfam_Digest_organ_expansion_fac-prd pfam_Digest_organ_expansion_fac-prd - no_errors DIEXF HGNC ENSG00000117597 383 0 0.00 630 141 18.26 - - - DISC1 0 genome.wustl.edu 37 1 231829666 231829666 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 231829666 231829666 C T SNP DISC1 ENST00000439617 human ensembl 69_37n +1 known silent c.162 p.I54 0.025 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 112 1 0.88 213 47 18.08 - - - DISP1 0 genome.wustl.edu 37 1 223177181 223177181 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 223177181 223177181 C T SNP DISP1 ENST00000284476 human ensembl 69_37n +1 known silent c.2442 p.S814 0.911 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 127 0 0.00 233 38 14.02 - - - DLG5 0 genome.wustl.edu 37 10 79554687 79554687 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 79554687 79554687 C T SNP DLG5 ENST00000372391 human ensembl 69_37n -1 known silent c.5466 p.P1822 0.426 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 566 2 0.35 360 256 41.49 - - - DLGAP5 0 genome.wustl.edu 37 14 55655899 55655899 + Splice_Site SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 55655899 55655899 C A SNP DLGAP5 ENST00000247191 human ensembl 69_37n -1 known splice_site c.1-1 e1-1 1.000 - - - no_errors DLGAP5 HGNC ENSG00000126787 279 0 0.00 163 103 38.72 - - - DNAH10 0 genome.wustl.edu 37 12 124317700 124317700 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 124317700 124317700 T A SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.4231 p.F1411I 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 195 0 0.00 110 107 49.31 - - - DNAH10 0 genome.wustl.edu 37 12 124419900 124419900 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 124419900 124419900 G A SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.13288 p.V4430I 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 313 1 0.32 232 123 34.65 - - - DNAH11 0 genome.wustl.edu 37 7 21840868 21840868 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 21840868 21840868 C T SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known silent c.10161 p.N3387 0.983 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 277 0 0.00 174 88 33.59 - - - DNAH14 0 genome.wustl.edu 37 1 225533752 225533752 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 225533752 225533752 A - DEL DNAH14 ENST00000430092 human ensembl 69_37n +1 known frame_shift_del c.10488 p.A3499fs 0.508 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 218 0 0.00 395 81 16.80 - - - DNAH17 0 genome.wustl.edu 37 17 76456047 76456047 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 76456047 76456047 G A SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.9430 p.P3144S 0.858 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 139 0 0.00 253 62 19.68 - - - DNAH17 0 genome.wustl.edu 37 17 76492000 76492000 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 76492000 76492000 C T SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.5818 p.A1940T 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 331 1 0.30 610 125 16.94 - - - DNAH2 0 genome.wustl.edu 37 17 7681676 7681676 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 7681676 7681676 C T SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known silent c.5430 p.T1810 0.000 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 59 0 0.00 55 21 27.63 - - - DNAH2 0 genome.wustl.edu 37 17 7705284 7705284 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 7705284 7705284 A G SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.8921 p.H2974R 0.999 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 332 0 0.00 242 104 30.06 - - - DNAH5 0 genome.wustl.edu 37 5 13714559 13714559 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 13714559 13714559 A G SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.13080 p.A4360 0.972 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 64 0 0.00 40 26 39.39 - - - DNAH5 0 genome.wustl.edu 37 5 13735431 13735431 + Splice_Site SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 13735431 13735431 C T SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known splice_site c.11571-1 e68-1 1.000 - - - no_errors DNAH5 HGNC ENSG00000039139 133 0 0.00 117 56 32.37 - - - DNAH5 0 genome.wustl.edu 37 5 13871682 13871682 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 13871682 13871682 G T SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.3589 p.L1197M 0.619 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 228 0 0.00 214 30 12.30 - - - DNAH6 0 genome.wustl.edu 37 2 84811196 84811196 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 84811196 84811196 C T SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.2303 p.T768I 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 289 0 0.00 226 131 36.69 - - - DNAJB14 0 genome.wustl.edu 37 4 100824995 100824995 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 100824995 100824995 G A SNP DNAJB14 ENST00000442697 human ensembl 69_37n -1 known silent c.903 p.N301 1.000 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB14 HGNC ENSG00000164031 302 0 0.00 258 107 29.16 - - - DNAJC13 0 genome.wustl.edu 37 3 132235651 132235651 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 132235651 132235651 A G SNP DNAJC13 ENST00000260818 human ensembl 69_37n +1 known missense c.5664 p.I1888M 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 289 1 0.34 197 109 35.62 - - - DNHD1 0 genome.wustl.edu 37 11 6579372 6579372 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 6579372 6579372 G A SNP DNHD1 ENST00000524401 human ensembl 69_37n +1 known nonsense c.89 p.W30* 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNHD1 HGNC ENSG00000179532 115 0 0.00 104 48 31.37 - - - DNMT1 0 genome.wustl.edu 37 19 10260314 10260314 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 10260314 10260314 C T SNP DNMT1 ENST00000359526 human ensembl 69_37n -1 known missense c.2401 p.D801N 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 103 0 0.00 79 43 35.25 - - - DOCK1 0 genome.wustl.edu 37 10 129231622 129231622 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 129231622 129231622 C T SNP DOCK1 ENST00000280333 human ensembl 69_37n +1 known missense c.4927 p.R1643C 1.000 NULL pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 249 1 0.40 160 98 37.98 - - - DOCK1 0 genome.wustl.edu 37 10 129242509 129242509 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 129242509 129242509 A G SNP DOCK1 ENST00000280333 human ensembl 69_37n +1 known silent c.5316 p.T1772 0.042 NULL pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 294 0 0.00 161 109 40.07 - - - DOCK4 0 genome.wustl.edu 37 7 111423966 111423966 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 111423966 111423966 G A SNP DOCK4 ENST00000423057 human ensembl 69_37n -1 putative missense c.1826 p.A609V 0.986 NULL pfam_DOCK,superfamily_Rho_GTPase_activation_prot - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK4 HGNC ENSG00000128512 240 0 0.00 176 93 33.82 - - - DOCK6 0 genome.wustl.edu 37 19 11323971 11323971 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 11323971 11323971 G A SNP DOCK6 ENST00000587656 human ensembl 69_37n -1 novel missense c.2237 p.A746V 1.000 NULL pfam_DOCK - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK6 HGNC ENSG00000130158 36 0 0.00 12 33 73.33 - - - DONSON 0 genome.wustl.edu 37 21 34957050 34957050 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 34957050 34957050 G A SNP DONSON ENST00000303071 human ensembl 69_37n -1 known missense c.631 p.R211C 0.999 NULL NULL - no_errors DONSON HGNC ENSG00000159147 124 0 0.00 95 50 34.48 - - - DPY19L1 0 genome.wustl.edu 37 7 34977706 34977706 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 34977706 34977706 T C SNP DPY19L1 ENST00000310974 human ensembl 69_37n -1 known missense c.1771 p.M591V 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 345 0 0.00 198 114 36.54 - - - DPY19L2P2 0 genome.wustl.edu 37 7 102852609 102852609 + RNA DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 102852609 102852609 T - DEL DPY19L2P2 ENST00000312132 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 43 0 0.00 32 24 42.11 - - - DSCAM 0 genome.wustl.edu 37 21 41459182 41459182 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 41459182 41459182 C A SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known missense c.3883 p.V1295L 0.999 superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 237 0 0.00 150 85 36.17 - - - DSEL 0 genome.wustl.edu 37 18 65181126 65181126 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 65181126 65181126 T C SNP DSEL ENST00000310045 human ensembl 69_37n -1 known silent c.750 p.G250 0.570 superfamily_Chondroitin_lyas pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 270 0 0.00 168 126 42.86 - - - DST 0 genome.wustl.edu 37 6 56354315 56354315 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 56354315 56354315 T C SNP DST ENST00000370754 human ensembl 69_37n -1 known silent c.20757 p.K6919 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 542 0 0.00 398 274 40.77 - - - DTX1 0 genome.wustl.edu 37 12 113533262 113533262 + RNA DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 113533262 113533262 G - DEL DTX1 ENST00000547730 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DTX1 HGNC ENSG00000135144 53 0 0.00 35 15 30.00 - - - DTX2 0 genome.wustl.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 76112249 76112249 A - DEL DTX2 ENST00000324432 human ensembl 69_37n +1 known frame_shift_del c.693 p.H232fs 0.794 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 Clone_based_vega_gene ENSG00000091073 159 0 0.00 157 33 15.64 - - - DTX3 0 genome.wustl.edu 37 12 58000854 58000854 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 58000854 58000854 G A SNP DTX3 ENST00000551632 human ensembl 69_37n +1 known missense c.217 p.A73T 0.842 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 53 0 0.00 33 20 37.74 - - - DUS1L 0 genome.wustl.edu 37 17 80019598 80019598 + Splice_Site SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 80019598 80019598 C A SNP DUS1L ENST00000306796 human ensembl 69_37n -1 known splice_site c.594-1 e6-1 1.000 - - - no_errors DUS1L HGNC ENSG00000169718 61 0 0.00 117 29 19.86 - - - DYNC1H1 0 genome.wustl.edu 37 14 102471153 102471153 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 102471153 102471153 C T SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known missense c.5104 p.L1702F 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 319 0 0.00 267 140 34.40 - - - DYSF 0 genome.wustl.edu 37 2 71791210 71791210 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 71791210 71791210 T C SNP DYSF ENST00000413539 human ensembl 69_37n +1 known missense c.2471 p.I824T 0.832 pfam_Ferlin_B-domain pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 126 0 0.00 99 41 29.29 - - - DYSF 0 genome.wustl.edu 37 2 71797948 71797948 + RNA SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 71797948 71797948 C G SNP DYSF ENST00000461565 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors DYSF HGNC ENSG00000135636 103 0 0.00 94 37 28.24 - - - DYSF 0 genome.wustl.edu 37 2 71839797 71839797 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 71839797 71839797 C - DEL DYSF ENST00000413539 human ensembl 69_37n +1 known frame_shift_del c.4287 p.I1432fs 0.989 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 77 0 0.00 57 23 28.75 - - - E4F1 0 genome.wustl.edu 37 16 2283890 2283890 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 2283890 2283890 C T SNP E4F1 ENST00000301727 human ensembl 69_37n +1 known missense c.1274 p.A425V 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 40 0 0.00 20 12 37.50 - - - E4F1 0 genome.wustl.edu 37 16 2285081 2285081 + Splice_Site SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 2285081 2285081 G A SNP E4F1 ENST00000301727 human ensembl 69_37n +1 known splice_site c.1936-1 e13-1 1.000 - - - no_errors E4F1 HGNC ENSG00000167967 25 0 0.00 17 14 45.16 - - - EEF2K 0 genome.wustl.edu 37 16 22295258 22295258 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 22295258 22295258 C A SNP EEF2K ENST00000263026 human ensembl 69_37n +1 known silent c.2119 p.R707 1.000 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 96 0 0.00 66 40 37.74 - - - EFCAB4B 0 genome.wustl.edu 37 12 3757660 3757660 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 3757660 3757660 A G SNP EFCAB4B ENST00000252322 human ensembl 69_37n -1 known missense c.1166 p.L389P 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB4B HGNC ENSG00000130038 50 0 0.00 39 12 23.53 - - - EFCAB4B 0 genome.wustl.edu 37 12 3757717 3757717 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 3757717 3757717 T C SNP EFCAB4B ENST00000440314 human ensembl 69_37n -1 known missense c.1109 p.D370G 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 47 0 0.00 28 19 40.43 - - - EFS 0 genome.wustl.edu 37 14 23830036 23830036 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 23830036 23830036 G A SNP EFS ENST00000216733 human ensembl 69_37n -1 known silent c.25 p.L9 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 26 0 0.00 12 8 40.00 - - - EHBP1L1 0 genome.wustl.edu 37 11 65346593 65346593 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 65346593 65346593 G A SNP EHBP1L1 ENST00000309295 human ensembl 69_37n +1 known missense c.149 p.R50H 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 49 0 0.00 42 38 47.50 - - - EHD1 0 genome.wustl.edu 37 11 64627634 64627634 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 64627634 64627634 G A SNP EHD1 ENST00000320631 human ensembl 69_37n -1 known missense c.677 p.T226M 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 208 0 0.00 136 80 36.87 - - - EIF2C3 0 genome.wustl.edu 37 1 36479150 36479150 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 36479150 36479150 A - DEL EIF2C3 ENST00000479395 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors EIF2C3 HGNC ENSG00000126070 35 0 0.00 18 14 41.18 - - - EIF3A 0 genome.wustl.edu 37 10 120819250 120819250 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 120819250 120819250 T C SNP EIF3A ENST00000462527 human ensembl 69_37n -1 known rna NULL NULL 0.294 - - - no_errors EIF3A HGNC ENSG00000107581 94 0 0.00 65 32 32.99 - - - EIF3L 0 genome.wustl.edu 37 22 38282787 38282787 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 38282787 38282787 G A SNP EIF3L ENST00000425539 human ensembl 69_37n +1 known missense c.1720 p.A574T 1.000 pfam_TIF3_suL pfam_TIF3_suL - no_errors EIF3L HGNC ENSG00000100129 167 0 0.00 126 91 41.74 - - - ELFN1 0 genome.wustl.edu 37 7 1785499 1785499 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 1785499 1785499 C A SNP ELFN1 ENST00000424383 human ensembl 69_37n +1 known missense c.1267 p.L423M 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC ENSG00000225968 51 0 0.00 23 19 45.24 - - - ELMO2 0 genome.wustl.edu 37 20 45000518 45000518 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 45000518 45000518 T G SNP ELMO2 ENST00000439931 human ensembl 69_37n -1 known missense c.1543 p.S515R 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 138 0 0.00 103 58 36.02 - - - ELN 0 genome.wustl.edu 37 7 73477671 73477672 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 73477671 73477672 - A INS ELN ENST00000358929 human ensembl 69_37n +1 known frame_shift_ins c.2094_2095 p.A699fs 1.000:1.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 51 0 0.00 37 19 33.93 - - - EMILIN1 0 genome.wustl.edu 37 2 27303605 27303605 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 27303605 27303605 G A SNP EMILIN1 ENST00000380320 human ensembl 69_37n +1 known missense c.296 p.R99H 1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 50 0 0.00 31 12 27.27 - - - ENPP3 0 genome.wustl.edu 37 6 132054739 132054739 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 132054739 132054739 G A SNP ENPP3 ENST00000357639 human ensembl 69_37n +1 known silent c.1965 p.S655 0.990 smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 187 0 0.00 135 91 39.39 - - - ENPP7 0 genome.wustl.edu 37 17 77708966 77708966 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 77708966 77708966 A G SNP ENPP7 ENST00000328313 human ensembl 69_37n +1 known missense c.524 p.N175S 1.000 pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 34 0 0.00 81 14 14.74 - - - ENSG00000249034 0 genome.wustl.edu 37 5 140242940 140242940 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 140242940 140242940 G A SNP ENSG00000249034 ENST00000502505 human ensembl 69_37n -1 known silent c.36 p.R12 0.649 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 35 0 0.00 15 12 44.44 - - - ENSG00000253981 0 genome.wustl.edu 37 8 8093698 8093698 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 8093698 8093698 A G SNP ENSG00000253981 ENST00000518201 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors RP11-556O5.4 Clone_based_vega_gene ENSG00000253981 85 0 0.00 48 29 37.66 - - - ENSG00000258466 0 genome.wustl.edu 37 14 68151905 68151905 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 68151905 68151905 C T SNP ENSG00000258466 ENST00000553306 human ensembl 69_37n -1 known missense c.173 p.R58H 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RP11-1012A1.4 Clone_based_vega_gene ENSG00000258466 128 1 0.78 72 43 37.39 - - - ENSG00000260175 0 genome.wustl.edu 37 14 23745735 23745735 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 23745735 23745735 G A SNP ENSG00000260175 ENST00000431326 human ensembl 69_37n -1 known silent c.708 p.G236 0.999 NULL superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RP11-124D2.6 Clone_based_vega_gene ENSG00000260175 191 0 0.00 120 67 35.45 - - - EP300 0 genome.wustl.edu 37 22 41566525 41566525 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 41566525 41566525 A - DEL EP300 ENST00000263253 human ensembl 69_37n +1 known frame_shift_del c.4402 p.M1470fs 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 243 0 0.00 158 82 34.02 - - - EP300 0 genome.wustl.edu 37 22 41573569 41573569 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 41573569 41573569 A G SNP EP300 ENST00000263253 human ensembl 69_37n +1 known missense c.5854 p.I1952V 0.865 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 117 0 0.00 111 64 36.57 - - - EPB41L1 0 genome.wustl.edu 37 20 34763558 34763558 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 34763558 34763558 A G SNP EPB41L1 ENST00000338074 human ensembl 69_37n +1 known missense c.263 p.Q88R 1.000 pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L1 HGNC ENSG00000088367 217 0 0.00 157 90 36.44 - - - EPC1 0 genome.wustl.edu 37 10 32580139 32580139 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 32580139 32580139 T A SNP EPC1 ENST00000263062 human ensembl 69_37n -1 known missense c.927 p.Q309H 0.993 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 398 0 0.00 283 180 38.88 - - - EPC1 0 genome.wustl.edu 37 10 32581465 32581465 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 32581465 32581465 T C SNP EPC1 ENST00000263062 human ensembl 69_37n -1 known silent c.774 p.K258 0.965 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 353 0 0.00 259 125 32.55 - - - EPG5 0 genome.wustl.edu 37 18 43534549 43534550 + Frame_Shift_Del DEL CT CT - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 43534549 43534550 CT - DEL EPG5 ENST00000282041 human ensembl 69_37n -1 known frame_shift_del c.819_818 p.E273fs 0.981:0.999 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 292 0 0.00 218 83 27.48 - - - EPHA3 0 genome.wustl.edu 37 3 89448493 89448493 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 89448493 89448493 T C SNP EPHA3 ENST00000336596 human ensembl 69_37n +1 known missense c.1457 p.I486T 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 140 0 0.00 114 62 35.23 - - - EPHA4 0 genome.wustl.edu 37 2 222428573 222428573 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 222428573 222428573 A G SNP EPHA4 ENST00000281821 human ensembl 69_37n -1 known missense c.701 p.V234A 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 984 0 0.00 624 411 39.60 - - - EPHB1 0 genome.wustl.edu 37 3 134644703 134644703 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 134644703 134644703 C T SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known missense c.104 p.T35M 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 218 0 0.00 112 66 37.08 - - - EPSTI1 0 genome.wustl.edu 37 13 43537413 43537414 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 43537413 43537414 - T INS EPSTI1 ENST00000313640 human ensembl 69_37n -1 known frame_shift_ins c.467_466 p.M156fs 1.000:1.000 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 771 0 0.00 538 243 31.11 - - - EPX 0 genome.wustl.edu 37 17 56276525 56276525 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 56276525 56276525 C T SNP EPX ENST00000225371 human ensembl 69_37n +1 known silent c.1245 p.Y415 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 134 0 0.00 233 44 15.88 - - - ERBB3 0 genome.wustl.edu 37 12 56488228 56488228 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 56488228 56488228 C T SNP ERBB3 ENST00000267101 human ensembl 69_37n +1 known missense c.1747 p.P583S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt,smart_Furin_repeat 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 109 0 0.00 76 58 42.96 - - - ERC1 0 genome.wustl.edu 37 12 1213949 1213949 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 1213949 1213949 T C SNP ERC1 ENST00000360905 human ensembl 69_37n +1 known missense c.1120 p.S374P 0.994 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 337 0 0.00 264 160 37.74 - - - ERCC5 0 genome.wustl.edu 37 13 103515094 103515094 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 103515094 103515094 C T SNP ERCC5 ENST00000355739 human ensembl 69_37n +1 known missense c.1595 p.S532F 0.000 tigrfam_XPGC_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair - no_errors ERCC5 HGNC ENSG00000134899 175 1 0.57 137 106 43.44 - - - ERGIC3 0 genome.wustl.edu 37 20 34143977 34143977 + Splice_Site SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 34143977 34143977 G A SNP ERGIC3 ENST00000447986 human ensembl 69_37n +1 known splice_site c.860-1 e11-1 1.000 - - - no_errors ERGIC3 HGNC ENSG00000125991 270 0 0.00 172 115 40.07 - - - ERH 0 genome.wustl.edu 37 14 69847202 69847202 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 69847202 69847202 G A SNP ERH ENST00000216520 human ensembl 69_37n -1 putative rna NULL NULL 1.000 - - - no_errors ERH HGNC ENSG00000100632 246 0 0.00 145 89 38.03 - - - ERLIN2 0 genome.wustl.edu 37 8 37611457 37611457 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 37611457 37611457 C T SNP ERLIN2 ENST00000276461 human ensembl 69_37n +1 known nonsense c.844 p.Q282* 1.000 NULL pfam_Band_7,smart_Band_7 - no_errors ERLIN2 HGNC ENSG00000147475 155 0 0.00 92 71 43.29 - - - ESRP2 0 genome.wustl.edu 37 16 68265114 68265114 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 68265114 68265114 T C SNP ESRP2 ENST00000565858 human ensembl 69_37n -1 known missense c.1708 p.S570G 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 137 0 0.00 86 40 31.75 - - - ETV6 0 genome.wustl.edu 37 12 12022746 12022746 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 12022746 12022746 C T SNP ETV6 ENST00000396373 human ensembl 69_37n +1 known silent c.852 p.S284 0.949 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC ENSG00000139083 70 0 0.00 44 35 44.30 - - - ETV6 0 genome.wustl.edu 37 12 12037513 12037513 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 12037513 12037513 A G SNP ETV6 ENST00000396373 human ensembl 69_37n +1 known missense c.1144 p.N382D 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC ENSG00000139083 176 0 0.00 115 73 38.83 - - - ETV6 0 genome.wustl.edu 37 12 12038878 12038878 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 12038878 12038878 T - DEL ETV6 ENST00000396373 human ensembl 69_37n +1 known frame_shift_del c.1171 p.Y391fs 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC ENSG00000139083 308 0 0.00 180 99 35.48 - - - ETV6 0 genome.wustl.edu 37 12 12038880 12038880 + Nonsense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 12038880 12038880 T A SNP ETV6 ENST00000396373 human ensembl 69_37n +1 known nonsense c.1173 p.Y391* 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC ENSG00000139083 304 0 0.00 182 100 35.34 - - - EVPL 0 genome.wustl.edu 37 17 74019420 74019421 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 74019420 74019421 - G INS EVPL ENST00000301607 human ensembl 69_37n -1 known frame_shift_ins c.433_432 p.D144fs 0.023:0.005 NULL pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 194 0 0.00 357 55 13.35 - - - EVPL 0 genome.wustl.edu 37 17 74019442 74019442 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 74019442 74019442 G A SNP EVPL ENST00000301607 human ensembl 69_37n -1 known silent c.411 p.Y137 0.322 NULL pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 198 0 0.00 333 85 20.19 - - - EXOC1 0 genome.wustl.edu 37 4 56730508 56730508 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 56730508 56730508 G A SNP EXOC1 ENST00000346134 human ensembl 69_37n +1 known missense c.371 p.R124Q 1.000 NULL pfam_Exocyst_Exoc1 - no_errors EXOC1 HGNC ENSG00000090989 118 1 0.84 119 71 37.37 - - - EXOSC8 0 genome.wustl.edu 37 13 37577085 37577085 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 37577085 37577085 G A SNP EXOSC8 ENST00000389704 human ensembl 69_37n +1 known missense c.133 p.A45T 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC8 HGNC ENSG00000120699 415 0 0.00 311 165 34.66 - - - F10 0 genome.wustl.edu 37 13 113777177 113777177 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 113777177 113777177 G A SNP F10 ENST00000375559 human ensembl 69_37n +1 known missense c.8 p.R3H 0.000 pirsf_Pept_S1A_FX pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors F10 HGNC ENSG00000126218 43 0 0.00 21 17 44.74 - - - F10 0 genome.wustl.edu 37 13 113801805 113801805 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 113801805 113801805 G T SNP F10 ENST00000375559 human ensembl 69_37n +1 known missense c.860 p.R287M 0.998 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors F10 HGNC ENSG00000126218 124 0 0.00 83 48 36.64 - - - FAF2 0 genome.wustl.edu 37 5 175916028 175916028 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 175916028 175916028 G T SNP FAF2 ENST00000261942 human ensembl 69_37n +1 known missense c.344 p.R115M 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 470 0 0.00 309 176 36.29 - - - FAM110B 0 genome.wustl.edu 37 8 59058872 59058872 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 59058872 59058872 G A SNP FAM110B ENST00000361488 human ensembl 69_37n +1 known missense c.83 p.R28H 1.000 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 36 0 0.00 25 5 16.67 - - - FAM120A 0 genome.wustl.edu 37 9 96294530 96294530 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 96294530 96294530 T C SNP FAM120A ENST00000333936 human ensembl 69_37n +1 known missense c.1912 p.Y638H 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 190 0 0.00 144 75 34.25 - - - FAM13C 0 genome.wustl.edu 37 10 61028377 61028377 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 61028377 61028377 A G SNP FAM13C ENST00000373868 human ensembl 69_37n -1 known missense c.878 p.I293T 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 222 0 0.00 154 101 39.61 - - - FAM153B 0 genome.wustl.edu 37 5 175540825 175540825 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 175540825 175540825 C T SNP FAM153B ENST00000253490 human ensembl 69_37n +1 known missense c.1025 p.A342V 0.000 prints_FAM153 prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 174 0 0.00 101 58 36.48 - - - FAM160A1 0 genome.wustl.edu 37 4 152507927 152507929 + In_Frame_Del DEL GGA GGA - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 152507927 152507929 GGA - DEL FAM160A1 ENST00000435205 human ensembl 69_37n +1 known in_frame_del c.867_869 p.E290in_frame_del 1.000:1.000:1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 212 0 0.00 165 77 31.69 - - - FAM161B 0 genome.wustl.edu 37 14 74413076 74413076 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 74413076 74413076 T - DEL FAM161B ENST00000286544 human ensembl 69_37n -1 known frame_shift_del c.476 p.N159fs 0.000 NULL pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 177 0 0.00 146 52 25.74 - - - FAM162A 0 genome.wustl.edu 37 3 122123122 122123122 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 122123122 122123122 C T SNP FAM162A ENST00000477892 human ensembl 69_37n +1 known missense c.175 p.P59S 1.000 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162A HGNC ENSG00000114023 190 0 0.00 144 90 38.46 - - - FAM166A 0 genome.wustl.edu 37 9 140139311 140139311 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 140139311 140139311 C T SNP FAM166A ENST00000388932 human ensembl 69_37n -1 known missense c.772 p.A258T 0.000 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 30 0 0.00 23 11 32.35 - - - FAM173B 0 genome.wustl.edu 37 5 10239183 10239183 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 10239183 10239183 C T SNP FAM173B ENST00000511437 human ensembl 69_37n -1 known missense c.302 p.R101H 0.955 NULL NULL - no_errors FAM173B HGNC ENSG00000150756 172 0 0.00 118 83 41.29 - - - FAM179B 0 genome.wustl.edu 37 14 45542735 45542735 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 45542735 45542735 C T SNP FAM179B ENST00000361577 human ensembl 69_37n +1 known missense c.5134 p.L1712F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 172 0 0.00 109 66 37.71 - - - FAM193B 0 genome.wustl.edu 37 5 176951489 176951489 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 176951489 176951489 T C SNP FAM193B ENST00000443375 human ensembl 69_37n -1 known missense c.1894 p.K632E 0.989 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 40 0 0.00 36 16 30.77 - - - FAM200B 0 genome.wustl.edu 37 4 15689832 15689832 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 15689832 15689832 A - DEL FAM200B ENST00000422728 human ensembl 69_37n +1 putative frame_shift_del c.1232 p.K413fs 0.214 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,superfamily_PAH - no_errors FAM200B HGNC ENSG00000237765 52 0 0.00 44 16 25.81 - - - FAM205A 0 genome.wustl.edu 37 9 34728071 34728071 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 34728071 34728071 G A SNP FAM205A ENST00000378788 human ensembl 69_37n -1 novel missense c.199 p.R67C 0.078 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 219 0 0.00 156 86 35.54 - - - FAM208B 0 genome.wustl.edu 37 10 5798656 5798656 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 5798656 5798656 A G SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known silent c.6687 p.L2229 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 236 0 0.00 164 77 31.95 - - - FAM219A 0 genome.wustl.edu 37 9 34401027 34401028 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 34401027 34401028 - G INS FAM219A ENST00000445726 human ensembl 69_37n -1 known frame_shift_ins c.493_492 p.K164fs 1.000:0.999 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 204 0 0.00 158 47 22.93 - - - FAM21A 0 genome.wustl.edu 37 10 51890690 51890690 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 51890690 51890690 A G SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known silent c.3738 p.K1246 0.999 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 315 0 0.00 230 110 32.35 - - - FAM227A 0 genome.wustl.edu 37 22 39024946 39024946 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 39024946 39024946 A - DEL FAM227A ENST00000543295 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors FAM227A HGNC ENSG00000184949 72 0 0.00 52 26 32.91 - - - FAM26E 0 genome.wustl.edu 37 6 116833357 116833357 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 116833357 116833357 C T SNP FAM26E ENST00000368599 human ensembl 69_37n +1 known silent c.498 p.T166 0.000 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 106 0 0.00 69 37 34.91 - - - FAM43A 0 genome.wustl.edu 37 3 194408622 194408624 + In_Frame_Del DEL TTA TTA - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 TTA TTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 194408622 194408624 TTA - DEL FAM43A ENST00000329759 human ensembl 69_37n +1 known in_frame_del c.1067_1069 p.I357in_frame_del 0.999:0.941:1.000 NULL smart_PTyr_interaction_dom - no_errors FAM43A HGNC ENSG00000185112 13 0 0.00 10 4 28.57 - - - FAM47A 0 genome.wustl.edu 37 X 34148936 34148936 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 34148936 34148936 C T SNP FAM47A ENST00000346193 human ensembl 69_37n -1 known missense c.1460 p.R487Q 0.330 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 118 0 0.00 83 60 41.96 - - - FAM5B 0 genome.wustl.edu 37 1 177199241 177199241 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 177199241 177199241 C T SNP FAM5B ENST00000361539 human ensembl 69_37n +1 known missense c.229 p.R77W 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC ENSG00000198797 22 0 0.00 62 12 16.00 - - - FAM69B 0 genome.wustl.edu 37 9 139617773 139617773 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 139617773 139617773 C T SNP FAM69B ENST00000371692 human ensembl 69_37n +1 known silent c.843 p.F281 0.866 pfam_Uncharacterised_FAM69 pfam_Uncharacterised_FAM69 - no_errors FAM69B HGNC ENSG00000165716 39 0 0.00 34 24 40.68 - - - FAM70A 0 genome.wustl.edu 37 X 119410840 119410840 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 119410840 119410840 A T SNP FAM70A ENST00000309720 human ensembl 69_37n -1 known missense c.647 p.I216N 1.000 NULL NULL - no_errors FAM70A HGNC ENSG00000125355 312 0 0.00 209 115 35.06 - - - FAM83C 0 genome.wustl.edu 37 20 33875618 33875618 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 33875618 33875618 G A SNP FAM83C ENST00000374408 human ensembl 69_37n -1 known silent c.964 p.L322 0.001 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 136 1 0.72 77 45 36.89 - - - FANCB 0 genome.wustl.edu 37 X 14863040 14863040 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 14863040 14863040 A - DEL FANCB ENST00000324138 human ensembl 69_37n -1 known frame_shift_del c.1865 p.L622fs 0.328 NULL NULL - no_errors FANCB HGNC ENSG00000181544 132 0 0.00 100 56 34.57 - - - FAT3 0 genome.wustl.edu 37 11 92088179 92088179 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 92088179 92088179 G - DEL FAT3 ENST00000298047 human ensembl 69_37n +1 known frame_shift_del c.2901 p.G969fs 0.985 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,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 FAT3 HGNC ENSG00000165323 175 0 0.00 113 75 39.27 - - - FBXL13 0 genome.wustl.edu 37 7 102462840 102462840 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 102462840 102462840 T C SNP FBXL13 ENST00000448002 human ensembl 69_37n -1 known silent c.2037 p.T679 0.000 NULL superfamily_F-box_dom_cyclin-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC ENSG00000161040 13 0 0.00 5 5 50.00 - - - FBXL18 0 genome.wustl.edu 37 7 5540380 5540380 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 5540380 5540380 C T SNP FBXL18 ENST00000453700 human ensembl 69_37n -1 known missense c.1520 p.R507H 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL18 HGNC ENSG00000155034 8 0 0.00 1 13 92.86 - - - FBXL6 0 genome.wustl.edu 37 8 145580146 145580146 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 145580146 145580146 G A SNP FBXL6 ENST00000331890 human ensembl 69_37n -1 known nonsense c.1039 p.R347* 0.003 NULL superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL6 HGNC ENSG00000182325 35 0 0.00 19 19 48.72 - - - FBXL7 0 genome.wustl.edu 37 5 15936680 15936680 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 15936680 15936680 C T SNP FBXL7 ENST00000504595 human ensembl 69_37n +1 known silent c.861 p.D287 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL7 HGNC ENSG00000183580 99 1 1.00 50 42 45.16 - - - FCGBP 0 genome.wustl.edu 37 19 40399610 40399610 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 40399610 40399610 A G SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known missense c.6085 p.S2029P 0.072 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 10 0 0.00 4 10 71.43 - - - FCGR1A 0 genome.wustl.edu 37 1 149761830 149761830 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 149761830 149761830 C T SNP FCGR1A ENST00000369168 human ensembl 69_37n +1 known silent c.780 p.C260 0.754 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1A HGNC ENSG00000150337 102 0 0.00 169 30 15.08 - - - FCGR1A 0 genome.wustl.edu 37 1 149762831 149762831 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 149762831 149762831 T C SNP FCGR1A ENST00000369168 human ensembl 69_37n +1 known missense c.883 p.F295L 0.093 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1A HGNC ENSG00000150337 226 1 0.44 449 82 15.41 - - - FCGRT 0 genome.wustl.edu 37 19 50017386 50017386 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 50017386 50017386 A - DEL FCGRT ENST00000221466 human ensembl 69_37n +1 known frame_shift_del c.321 p.G109fs 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors FCGRT HGNC ENSG00000104870 70 0 0.00 43 25 36.23 - - - FCHSD1 0 genome.wustl.edu 37 5 141019879 141019879 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 141019879 141019879 G A SNP FCHSD1 ENST00000523856 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors FCHSD1 HGNC ENSG00000197948 218 0 0.00 111 101 47.42 - - - FCRL2 0 genome.wustl.edu 37 1 157737074 157737074 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 157737074 157737074 G A SNP FCRL2 ENST00000361516 human ensembl 69_37n -1 known missense c.1109 p.A370V 0.079 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL2 HGNC ENSG00000132704 94 0 0.00 191 43 18.38 - - - FCRL2 0 genome.wustl.edu 37 1 157738283 157738283 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 157738283 157738283 A G SNP FCRL2 ENST00000361516 human ensembl 69_37n -1 known silent c.804 p.S268 0.001 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL2 HGNC ENSG00000132704 386 3 0.77 800 125 13.34 - - - FCRL5 0 genome.wustl.edu 37 1 157490960 157490961 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 157490960 157490961 - A INS FCRL5 ENST00000356953 human ensembl 69_37n -1 known frame_shift_ins c.2362_2361 p.H787fs 0.064:0.076 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 66 0 0.00 137 21 13.29 - - - FEM1C 0 genome.wustl.edu 37 5 114860367 114860367 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 114860367 114860367 C A SNP FEM1C ENST00000274457 human ensembl 69_37n -1 known missense c.1492 p.G498W 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1C HGNC ENSG00000145780 289 0 0.00 201 131 39.46 - - - FER1L6 0 genome.wustl.edu 37 8 125029876 125029876 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 125029876 125029876 T C SNP FER1L6 ENST00000399018 human ensembl 69_37n +1 known missense c.1931 p.I644T 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 154 0 0.00 113 66 36.87 - - - FES 0 genome.wustl.edu 37 15 91436997 91436997 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 91436997 91436997 G T SNP FES ENST00000328850 human ensembl 69_37n +1 known missense c.2159 p.R720I 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FES HGNC ENSG00000182511 37 0 0.00 19 22 53.66 - - - FEZF1 0 genome.wustl.edu 37 7 121942133 121942133 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 121942133 121942133 G A SNP FEZF1 ENST00000442488 human ensembl 69_37n -1 known missense c.1346 p.P449L 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 44 0 0.00 29 16 35.56 - - - FGD1 0 genome.wustl.edu 37 X 54472832 54472832 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 54472832 54472832 G A SNP FGD1 ENST00000375135 human ensembl 69_37n -1 known missense c.2596 p.R866C 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 FGD1 HGNC ENSG00000102302 77 0 0.00 45 33 41.77 - - - FGD4 0 genome.wustl.edu 37 12 32761022 32761022 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 32761022 32761022 T C SNP FGD4 ENST00000427716 human ensembl 69_37n +1 known silent c.1125 p.D375 0.994 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 222 0 0.00 125 111 47.03 - - - FGD5 0 genome.wustl.edu 37 3 14862972 14862972 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 14862972 14862972 C T SNP FGD5 ENST00000457774 human ensembl 69_37n +1 putative missense c.34 p.R12C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FGD5 HGNC ENSG00000154783 105 0 0.00 62 31 33.33 - - - FGF6 0 genome.wustl.edu 37 12 4554553 4554553 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 4554553 4554553 G A SNP FGF6 ENST00000228837 human ensembl 69_37n -1 known missense c.184 p.R62C 0.990 superfamily_Cytokine_IL1-like pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF6 HGNC ENSG00000111241 87 0 0.00 43 27 38.03 - - - FGF8 0 genome.wustl.edu 37 10 103530145 103530145 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 103530145 103530145 G A SNP FGF8 ENST00000320185 human ensembl 69_37n -1 known missense c.676 p.P226S 1.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF8 HGNC ENSG00000107831 56 0 0.00 35 17 32.69 - - - FGF8 0 genome.wustl.edu 37 10 103534553 103534553 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 103534553 103534553 C T SNP FGF8 ENST00000320185 human ensembl 69_37n -1 known silent c.273 p.G91 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF8 HGNC ENSG00000107831 178 0 0.00 108 82 42.93 - - - FGG 0 genome.wustl.edu 37 4 155533684 155533684 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 155533684 155533684 T C SNP FGG ENST00000336098 human ensembl 69_37n -1 known silent c.78 p.A26 0.994 NULL pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGG HGNC ENSG00000171557 196 0 0.00 139 73 34.43 - - - FICD 0 genome.wustl.edu 37 12 108913234 108913234 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 108913234 108913234 G A SNP FICD ENST00000552695 human ensembl 69_37n +1 known silent c.1359 p.T453 0.078 NULL pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 59 0 0.00 42 30 41.10 - - - FILIP1L 0 genome.wustl.edu 37 3 99567225 99567225 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 99567225 99567225 C T SNP FILIP1L ENST00000354552 human ensembl 69_37n -1 known missense c.3295 p.A1099T 0.987 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 900 2 0.22 543 325 37.40 - - - FLAD1 0 genome.wustl.edu 37 1 154961214 154961214 + Nonsense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 154961214 154961214 G T SNP FLAD1 ENST00000292180 human ensembl 69_37n +1 known nonsense c.1006 p.E336* 1.000 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 52 0 0.00 85 31 26.72 - - - FLJ39653 0 genome.wustl.edu 37 4 16258136 16258136 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 16258136 16258136 G A SNP FLJ39653 ENST00000570786 human ensembl 69_37n +1 known rna NULL NULL 0.246 - - - no_errors RP11-783N5.1 Clone_based_vega_gene ENSG00000263327 44 0 0.00 23 19 45.24 - - - FLJ45139 0 genome.wustl.edu 37 21 40250690 40250690 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 40250690 40250690 A G SNP FLJ45139 ENST00000380931 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 223 0 0.00 193 111 36.51 - - - FMN1 0 genome.wustl.edu 37 15 33359244 33359244 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 33359244 33359244 C T SNP FMN1 ENST00000334528 human ensembl 69_37n -1 known missense c.842 p.R281H 1.000 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC ENSG00000248905 75 0 0.00 59 27 31.40 - - - FMO2 0 genome.wustl.edu 37 1 171173075 171173075 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 171173075 171173075 A G SNP FMO2 ENST00000209929 human ensembl 69_37n +1 known silent c.699 p.S233 0.002 pfam_Flavin_mOase-like pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 246 0 0.00 543 81 12.98 - - - FMO4 0 genome.wustl.edu 37 1 171292176 171292176 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 171292176 171292176 A G SNP FMO4 ENST00000367749 human ensembl 69_37n +1 known missense c.166 p.K56E 0.382 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 255 0 0.00 486 82 14.41 - - - FNDC3B 0 genome.wustl.edu 37 3 172115197 172115197 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 172115197 172115197 A G SNP FNDC3B ENST00000336824 human ensembl 69_37n +1 known missense c.3547 p.I1183V 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 318 0 0.00 240 151 38.62 - - - FOCAD 0 genome.wustl.edu 37 9 20789382 20789382 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 20789382 20789382 T C SNP FOCAD ENST00000338382 human ensembl 69_37n +1 known silent c.1230 p.S410 0.989 NULL pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 475 0 0.00 313 173 35.60 - - - FOCAD 0 genome.wustl.edu 37 9 20982378 20982378 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 20982378 20982378 T A SNP FOCAD ENST00000338382 human ensembl 69_37n +1 known missense c.4661 p.I1554N 0.948 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 293 0 0.00 212 117 35.45 - - - FOXRED1 0 genome.wustl.edu 37 11 126145284 126145284 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 126145284 126145284 C T SNP FOXRED1 ENST00000263578 human ensembl 69_37n +1 known nonsense c.694 p.Q232* 0.507 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors FOXRED1 HGNC ENSG00000110074 320 0 0.00 219 146 40.00 - - - FRAS1 0 genome.wustl.edu 37 4 79238583 79238583 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 79238583 79238583 C - DEL FRAS1 ENST00000264895 human ensembl 69_37n +1 known frame_shift_del c.1881 p.K630fs 0.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 269 1 0.37 179 112 37.97 - - - FREM1 0 genome.wustl.edu 37 9 14784458 14784458 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 14784458 14784458 G A SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known missense c.4355 p.P1452L 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 273 0 0.00 190 133 41.18 - - - FRK 0 genome.wustl.edu 37 6 116264331 116264331 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 116264331 116264331 G A SNP FRK ENST00000368626 human ensembl 69_37n -1 known silent c.1158 p.I386 0.995 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors FRK HGNC ENSG00000111816 200 1 0.50 151 82 35.19 - - - FRMD7 0 genome.wustl.edu 37 X 131214255 131214255 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 131214255 131214255 T C SNP FRMD7 ENST00000298542 human ensembl 69_37n -1 known silent c.945 p.K315 0.880 pfam_FERM-adjacent pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD7 HGNC ENSG00000165694 459 0 0.00 296 206 41.04 - - - FRY 0 genome.wustl.edu 37 13 32836505 32836505 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 32836505 32836505 G C SNP FRY ENST00000380250 human ensembl 69_37n +1 known missense c.7672 p.A2558P 0.370 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 241 0 0.00 191 141 42.34 - - - FSIP1 0 genome.wustl.edu 37 15 40018911 40018911 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 40018911 40018911 T C SNP FSIP1 ENST00000350221 human ensembl 69_37n -1 known missense c.929 p.Y310C 0.899 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 298 0 0.00 290 33 10.22 - - - FSTL5 0 genome.wustl.edu 37 4 162380399 162380399 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 162380399 162380399 A G SNP FSTL5 ENST00000306100 human ensembl 69_37n -1 known missense c.1681 p.W561R 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 346 0 0.00 239 142 37.27 - - - FTSJ3 0 genome.wustl.edu 37 17 61901579 61901579 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 61901579 61901579 T G SNP FTSJ3 ENST00000427159 human ensembl 69_37n -1 known missense c.1019 p.D340A 0.998 pfam_rRNA_MeTfrase_Spb1_DUF3381 pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 381 0 0.00 700 158 18.39 - - - GAA 0 genome.wustl.edu 37 17 78084571 78084571 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 78084571 78084571 G A SNP GAA ENST00000302262 human ensembl 69_37n +1 known missense c.1483 p.A495T 0.007 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 265 0 0.00 493 87 15.00 - - - GADD45G 0 genome.wustl.edu 37 9 92220726 92220726 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 92220726 92220726 G A SNP GADD45G ENST00000252506 human ensembl 69_37n +1 known silent c.300 p.R100 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors GADD45G HGNC ENSG00000130222 56 0 0.00 33 24 42.11 - - - GALM 0 genome.wustl.edu 37 2 38958912 38958912 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 38958912 38958912 T C SNP GALM ENST00000272252 human ensembl 69_37n +1 known missense c.812 p.V271A 0.999 pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd - no_errors GALM HGNC ENSG00000143891 217 0 0.00 140 117 45.17 - - - GALNT8 0 genome.wustl.edu 37 12 4870217 4870217 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 4870217 4870217 G A SNP GALNT8 ENST00000252318 human ensembl 69_37n +1 known missense c.1267 p.A423T 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 308 2 0.64 225 117 34.21 - - - GALNTL4 0 genome.wustl.edu 37 11 11362441 11362441 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 11362441 11362441 G A SNP GALNTL4 ENST00000227756 human ensembl 69_37n -1 known silent c.1203 p.N401 0.948 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL4 HGNC ENSG00000110328 333 0 0.00 245 140 36.27 - - - GAPVD1 0 genome.wustl.edu 37 9 128025929 128025929 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 128025929 128025929 C T SNP GAPVD1 ENST00000469528 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors GAPVD1 HGNC ENSG00000165219 8 0 0.00 7 8 53.33 - - - GATAD2B 0 genome.wustl.edu 37 1 153784600 153784600 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 153784600 153784600 T C SNP GATAD2B ENST00000368655 human ensembl 69_37n -1 known silent c.1428 p.E476 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2B HGNC ENSG00000143614 148 1 0.67 327 83 20.15 - - - GCC2 0 genome.wustl.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 109087883 109087884 - A INS GCC2 ENST00000309863 human ensembl 69_37n +1 known frame_shift_ins c.2098_2099 p.Q703fs 0.998:1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 130 0 0.00 78 37 32.17 - - - GCGR 0 genome.wustl.edu 37 17 79768946 79768946 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 79768946 79768946 G A SNP GCGR ENST00000400723 human ensembl 69_37n +1 known missense c.332 p.R111Q 0.926 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_glucagon_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_glucagon_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GCGR HGNC ENSG00000215644 45 0 0.00 68 17 19.77 - - - GCN1L1 0 genome.wustl.edu 37 12 120622011 120622011 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 120622011 120622011 A G SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known missense c.221 p.I74T 1.000 NULL pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 97 0 0.00 78 37 31.90 - - - GCNT2 0 genome.wustl.edu 37 6 10626934 10626934 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 10626934 10626934 T C SNP GCNT2 ENST00000397423 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors GCNT2 HGNC ENSG00000111846 51 0 0.00 29 22 43.14 - - - GCOM1 0 genome.wustl.edu 37 15 57921967 57921967 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 57921967 57921967 C T SNP GCOM1 ENST00000380569 human ensembl 69_37n +1 known missense c.593 p.T198M 0.966 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 230 0 0.00 152 102 40.16 - - - GCOM1 0 genome.wustl.edu 37 15 57967241 57967241 + Nonsense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 57967241 57967241 G T SNP GCOM1 ENST00000380569 human ensembl 69_37n +1 known nonsense c.1279 p.G427* 1.000 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 286 0 0.00 214 122 36.31 - - - GDI1 0 genome.wustl.edu 37 X 153669689 153669689 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 153669689 153669689 T C SNP GDI1 ENST00000471972 human ensembl 69_37n +1 putative rna NULL NULL 0.020 - - - no_errors GDI1 HGNC ENSG00000203879 53 0 0.00 27 15 35.71 - - - GDPD1 0 genome.wustl.edu 37 17 57322807 57322807 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 57322807 57322807 T C SNP GDPD1 ENST00000284116 human ensembl 69_37n +1 known missense c.218 p.L73S 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 259 0 0.00 513 96 15.76 - - - GGA1 0 genome.wustl.edu 37 22 38028688 38028688 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 38028688 38028688 C - DEL GGA1 ENST00000343632 human ensembl 69_37n +1 known frame_shift_del c.1890 p.P632fs 1.000 superfamily_Coatomer/clathrin_app_Ig-like pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 144 0 0.00 73 41 35.65 - - - GH2 0 genome.wustl.edu 37 17 61957633 61957633 + Nonsense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 61957633 61957633 G T SNP GH2 ENST00000456543 human ensembl 69_37n -1 known nonsense c.698 p.S233* 0.001 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 218 0 0.00 374 79 17.40 - - - GHRHR 0 genome.wustl.edu 37 7 31016142 31016143 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 31016142 31016143 - C INS GHRHR ENST00000326139 human ensembl 69_37n +1 known frame_shift_ins c.1073_1074 p.L360fs 1.000:1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1 - no_errors GHRHR HGNC ENSG00000106128 146 0 0.00 95 44 31.65 - - - GJA5 0 genome.wustl.edu 37 1 147231241 147231241 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 147231241 147231241 C T SNP GJA5 ENST00000271348 human ensembl 69_37n -1 known missense c.106 p.V36M 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 213 0 0.00 397 82 17.12 - - - GJB7 0 genome.wustl.edu 37 6 87993980 87993980 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 87993980 87993980 T - DEL GJB7 ENST00000296882 human ensembl 69_37n -1 known frame_shift_del c.651 p.K217fs 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB7 HGNC ENSG00000164411 76 0 0.00 55 38 39.58 - - - GK2 0 genome.wustl.edu 37 4 80329336 80329336 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 80329336 80329336 C T SNP GK2 ENST00000358842 human ensembl 69_37n -1 known missense c.19 p.A7T 0.000 NULL pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 89 0 0.00 52 30 36.59 - - - GLB1 0 genome.wustl.edu 37 3 33075995 33075995 + RNA DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 33075995 33075995 C - DEL GLB1 ENST00000497796 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors GLB1 HGNC ENSG00000170266 117 0 0.00 84 41 31.78 - - - GLDC 0 genome.wustl.edu 37 9 6558604 6558604 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 6558604 6558604 C A SNP GLDC ENST00000321612 human ensembl 69_37n -1 known missense c.2007 p.E669D 1.000 pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 201 0 0.00 172 89 34.10 - - - GLIPR1L2 0 genome.wustl.edu 37 12 75816802 75816802 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 75816802 75816802 C T SNP GLIPR1L2 ENST00000320460 human ensembl 69_37n +1 known missense c.703 p.H235Y 0.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 376 0 0.00 201 105 34.31 - - - GLUL 0 genome.wustl.edu 37 1 182354826 182354826 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 182354826 182354826 C T SNP GLUL ENST00000491322 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors GLUL HGNC ENSG00000135821 136 0 0.00 263 47 15.06 - - - GLYR1 0 genome.wustl.edu 37 16 4862228 4862229 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 4862228 4862229 - C INS GLYR1 ENST00000321919 human ensembl 69_37n -1 known frame_shift_ins c.1141_1140 p.R380fs 0.990:0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 74 0 0.00 57 14 19.72 - - - GMEB1 0 genome.wustl.edu 37 1 29041386 29041386 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 29041386 29041386 A - DEL GMEB1 ENST00000480454 human ensembl 69_37n +1 known rna NULL NULL 0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 9 0 0.00 6 5 45.45 - - - GOLGA3 0 genome.wustl.edu 37 12 133393373 133393373 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 133393373 133393373 C T SNP GOLGA3 ENST00000204726 human ensembl 69_37n -1 known silent c.159 p.T53 0.007 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 144 0 0.00 105 41 28.08 - - - GOLGA4 0 genome.wustl.edu 37 3 37365196 37365196 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 37365196 37365196 G A SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known missense c.1819 p.V607I 0.333 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 98 0 0.00 33 43 56.58 - - - GOLGA8DP 0 genome.wustl.edu 37 15 22709989 22709989 + RNA SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 22709989 22709989 C G SNP GOLGA8DP ENST00000314246 human ensembl 69_37n -1 known rna NULL NULL 0.917 - - - no_errors GOLGA8DP HGNC ENSG00000185182 15 0 0.00 8 9 52.94 - - - GOLGA8G 0 genome.wustl.edu 37 15 28769148 28769148 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 28769148 28769148 C - DEL GOLGA8G ENST00000433304 human ensembl 69_37n -1 known frame_shift_del c.694 p.E232fs 0.984 NULL NULL - no_errors GOLGA8G HGNC ENSG00000183629 127 0 0.00 49 78 58.65 - - - GON4L 0 genome.wustl.edu 37 1 155724207 155724207 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155724207 155724207 T G SNP GON4L ENST00000368331 human ensembl 69_37n -1 known missense c.5590 p.K1864Q 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 204 0 0.00 382 60 13.57 - - - GON4L 0 genome.wustl.edu 37 1 155735933 155735933 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155735933 155735933 G A SNP GON4L ENST00000368331 human ensembl 69_37n -1 known nonsense c.3331 p.R1111* 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 395 0 0.00 624 146 18.91 - - - GON4L 0 genome.wustl.edu 37 1 155744917 155744917 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155744917 155744917 C T SNP GON4L ENST00000368331 human ensembl 69_37n -1 known silent c.2226 p.Q742 0.043 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 482 1 0.21 948 191 16.77 - - - GPATCH2 0 genome.wustl.edu 37 1 217784358 217784358 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 217784358 217784358 A G SNP GPATCH2 ENST00000366935 human ensembl 69_37n -1 known silent c.891 p.G297 0.819 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 228 0 0.00 519 94 15.31 - - - GPR113 0 genome.wustl.edu 37 2 26536705 26536705 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 26536705 26536705 T C SNP GPR113 ENST00000333478 human ensembl 69_37n -1 known missense c.602 p.D201G 0.469 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 159 1 0.62 90 58 38.93 - - - GPR116 0 genome.wustl.edu 37 6 46834803 46834803 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 46834803 46834803 G A SNP GPR116 ENST00000265417 human ensembl 69_37n -1 known silent c.1693 p.L565 0.804 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 310 1 0.32 221 111 33.43 - - - GPR126 0 genome.wustl.edu 37 6 142630780 142630780 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 142630780 142630780 A G SNP GPR126 ENST00000367609 human ensembl 69_37n +1 known silent c.102 p.S34 1.000 NULL pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 323 0 0.00 97 262 72.98 - - - GPR144 0 genome.wustl.edu 37 9 127214789 127214789 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 127214789 127214789 C - DEL GPR144 ENST00000334810 human ensembl 69_37n +1 known frame_shift_del c.125 p.V44fs 0.003 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR144 HGNC ENSG00000180264 101 0 0.00 73 39 33.91 - - - GPR146 0 genome.wustl.edu 37 7 1097299 1097299 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 1097299 1097299 C T SNP GPR146 ENST00000297468 human ensembl 69_37n +1 known silent c.148 p.L50 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR146 HGNC ENSG00000164849 23 0 0.00 18 14 43.75 - - - GPR150 0 genome.wustl.edu 37 5 94957230 94957230 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 94957230 94957230 C T SNP GPR150 ENST00000380007 human ensembl 69_37n +1 known silent c.1251 p.R417 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR150 HGNC ENSG00000178015 27 0 0.00 11 14 53.85 - - - GPR153 0 genome.wustl.edu 37 1 6310563 6310563 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 6310563 6310563 C A SNP GPR153 ENST00000377893 human ensembl 69_37n -1 known missense c.1101 p.E367D 0.999 prints_GPCR_153 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 60 0 0.00 30 32 51.61 - - - GPR161 0 genome.wustl.edu 37 1 168066024 168066024 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 168066024 168066024 A G SNP GPR161 ENST00000537209 human ensembl 69_37n -1 known missense c.881 p.V294A 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 75 0 0.00 117 17 12.59 - - - GPR26 0 genome.wustl.edu 37 10 125426499 125426499 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 125426499 125426499 C T SNP GPR26 ENST00000284674 human ensembl 69_37n +1 known silent c.576 p.Y192 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 39 0 0.00 23 16 40.00 - - - GPR34 0 genome.wustl.edu 37 X 41555260 41555260 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 41555260 41555260 T A SNP GPR34 ENST00000378138 human ensembl 69_37n +1 known missense c.374 p.I125N 0.011 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR34 HGNC ENSG00000171659 343 0 0.00 223 123 35.55 - - - GPR75 0 genome.wustl.edu 37 2 54081275 54081276 + Frame_Shift_Del DEL AG AG - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 54081275 54081276 AG - DEL GPR75 ENST00000394705 human ensembl 69_37n -1 known frame_shift_del c.619_618 p.Y207fs 1.000:0.894 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR75 HGNC ENSG00000119737 266 0 0.00 172 66 27.73 - - - GPR77 0 genome.wustl.edu 37 19 47844308 47844308 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 47844308 47844308 T C SNP GPR77 ENST00000257267 human ensembl 69_37n +1 known silent c.252 p.C84 0.006 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt - no_errors GPR77 HGNC ENSG00000134830 104 0 0.00 60 29 32.22 - - - GPR98 0 genome.wustl.edu 37 5 89938470 89938470 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 89938470 89938470 A G SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.2258 p.Q753R 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 156 1 0.64 145 77 34.53 - - - GPR98 0 genome.wustl.edu 37 5 89943554 89943554 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 89943554 89943554 T - DEL GPR98 ENST00000405460 human ensembl 69_37n +1 known frame_shift_del c.3262 p.Y1089fs 0.999 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 304 0 0.00 186 89 32.13 - - - GPR98 0 genome.wustl.edu 37 5 90024500 90024500 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 90024500 90024500 T G SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.10176 p.N3392K 0.948 pfscan_EAR pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 306 0 0.00 192 104 35.14 - - - GPX8 0 genome.wustl.edu 37 5 54460122 54460122 + RNA SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 54460122 54460122 T G SNP GPX8 ENST00000506123 human ensembl 69_37n +1 known rna NULL NULL 0.049 - - - no_errors GPX8 HGNC ENSG00000164294 28 0 0.00 12 11 47.83 - - - GRHL3 0 genome.wustl.edu 37 1 24657985 24657985 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 24657985 24657985 T C SNP GRHL3 ENST00000350501 human ensembl 69_37n +1 known silent c.87 p.D29 0.975 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC ENSG00000158055 246 0 0.00 156 94 37.45 - - - GRIA1 0 genome.wustl.edu 37 5 153078609 153078609 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 153078609 153078609 C T SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known silent c.1458 p.G486 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 256 0 0.00 158 87 35.22 - - - GRID1 0 genome.wustl.edu 37 10 87362186 87362186 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 87362186 87362186 C T SNP GRID1 ENST00000327946 human ensembl 69_37n -1 known silent c.2874 p.S958 0.616 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 128 1 0.78 102 52 33.77 - - - GRIN2A 0 genome.wustl.edu 37 16 9857380 9857380 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 9857380 9857380 T - DEL GRIN2A ENST00000330684 human ensembl 69_37n -1 known frame_shift_del c.4021 p.S1341fs 0.070 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 113 0 0.00 89 33 27.05 - - - GRK1 0 genome.wustl.edu 37 13 114322116 114322116 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 114322116 114322116 G A SNP GRK1 ENST00000335678 human ensembl 69_37n +1 known missense c.415 p.V139M 0.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom - no_errors GRK1 HGNC ENSG00000185974 117 0 0.00 67 42 38.53 - - - GRK6 0 genome.wustl.edu 37 5 176863419 176863419 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 176863419 176863419 G A SNP GRK6 ENST00000528793 human ensembl 69_37n +1 known missense c.1292 p.R431H 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom - no_errors GRK6 HGNC ENSG00000198055 44 0 0.00 22 17 42.50 - - - GRM3 0 genome.wustl.edu 37 7 86415801 86415801 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 86415801 86415801 G A SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known silent c.693 p.E231 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 50 0 0.00 28 20 41.67 - - - GRM8 0 genome.wustl.edu 37 7 126409995 126409995 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 126409995 126409995 G A SNP GRM8 ENST00000339582 human ensembl 69_37n -1 known silent c.1281 p.Y427 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 218 1 0.46 164 106 39.26 - - - GSPT2 0 genome.wustl.edu 37 X 51488002 51488002 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 51488002 51488002 T C SNP GSPT2 ENST00000340438 human ensembl 69_37n +1 known missense c.1280 p.I427T 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT2 HGNC ENSG00000189369 253 0 0.00 141 97 40.76 - - - GTF2IRD2 0 genome.wustl.edu 37 7 74212596 74212596 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 74212596 74212596 G A SNP GTF2IRD2 ENST00000405086 human ensembl 69_37n -1 known missense c.1255 p.R419C 0.967 superfamily_GTF2I pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 161 0 0.00 95 50 34.48 - - - GTF3C1 0 genome.wustl.edu 37 16 27512666 27512666 + Splice_Site SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 27512666 27512666 C A SNP GTF3C1 ENST00000356183 human ensembl 69_37n -1 known splice_site c.1908-1 e12-1 1.000 - - - no_errors GTF3C1 HGNC ENSG00000077235 145 1 0.68 74 42 36.21 - - - GTF3C2 0 genome.wustl.edu 37 2 27552349 27552349 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 27552349 27552349 G A SNP GTF3C2 ENST00000264720 human ensembl 69_37n -1 known nonsense c.1774 p.Q592* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 226 0 0.00 125 70 35.90 - - - GUCY2D 0 genome.wustl.edu 37 17 7915514 7915514 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 7915514 7915514 C T SNP GUCY2D ENST00000254854 human ensembl 69_37n +1 known missense c.1802 p.A601V 0.914 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 83 0 0.00 56 30 34.88 - - - H3F3B 0 genome.wustl.edu 37 17 73774681 73774682 + Frame_Shift_Del DEL CT CT - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 73774681 73774682 CT - DEL H3F3B ENST00000254810 human ensembl 69_37n -1 known frame_shift_del c.406_405 p.R135fs 1.000:1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC ENSG00000132475 291 0 0.00 543 96 14.98 - - - HAX1 0 genome.wustl.edu 37 1 154245925 154245926 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 154245925 154245926 - C INS HAX1 ENST00000483970 human ensembl 69_37n +1 known frame_shift_ins c.167_168 p.E59fs 0.005:0.005 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 145 0 0.00 325 66 16.88 - - - HAX1 0 genome.wustl.edu 37 1 154248120 154248120 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 154248120 154248120 G A SNP HAX1 ENST00000483970 human ensembl 69_37n +1 known silent c.807 p.L269 0.850 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 405 0 0.00 776 165 17.50 - - - HBA2 0 genome.wustl.edu 37 16 223495 223495 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 223495 223495 A G SNP HBA2 ENST00000251595 human ensembl 69_37n +1 known missense c.325 p.T109A 0.917 superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_pi pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a,prints_Haemoglobin_pi - no_errors HBA2 HGNC ENSG00000188536 96 0 0.00 64 35 34.65 - - - HBP1 0 genome.wustl.edu 37 7 106840642 106840642 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 106840642 106840642 A G SNP HBP1 ENST00000222574 human ensembl 69_37n +1 known missense c.1423 p.M475V 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Ataxin-1_HBP1,pfam_HMG_superfamily,superfamily_Ataxin-1_HBP1,superfamily_HMG_superfamily,smart_Ataxin_AXH_dom,smart_HMG_superfamily,pfscan_Ataxin-1_HBP1,pfscan_HMG_superfamily - no_errors HBP1 HGNC ENSG00000105856 471 0 0.00 341 157 31.53 - - - HCAR2 0 genome.wustl.edu 37 12 123187074 123187074 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 123187074 123187074 G A SNP HCAR2 ENST00000328880 human ensembl 69_37n -1 known missense c.757 p.R253C 0.024 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR2 HGNC ENSG00000182782 396 0 0.00 329 106 24.37 - - - HCFC1 0 genome.wustl.edu 37 X 153218311 153218311 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 153218311 153218311 G A SNP HCFC1 ENST00000444191 human ensembl 69_37n -1 novel nonsense c.319 p.R107* 0.024 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HCFC1 HGNC ENSG00000172534 31 0 0.00 19 7 26.92 - - - HCFC1 0 genome.wustl.edu 37 X 153222966 153222966 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 153222966 153222966 C T SNP HCFC1 ENST00000310441 human ensembl 69_37n -1 known missense c.2152 p.A718T 0.998 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 214 0 0.00 143 125 46.64 - - - HCN2 0 genome.wustl.edu 37 19 613253 613253 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 613253 613253 C T SNP HCN2 ENST00000251287 human ensembl 69_37n +1 known silent c.1590 p.I530 0.989 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 69 0 0.00 47 29 38.16 - - - HCN4 0 genome.wustl.edu 37 15 73615749 73615749 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 73615749 73615749 T C SNP HCN4 ENST00000261917 human ensembl 69_37n -1 known silent c.2685 p.P895 0.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 23 0 0.00 19 6 24.00 - - - HDAC6 0 genome.wustl.edu 37 X 48678572 48678572 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 48678572 48678572 G - DEL HDAC6 ENST00000444343 human ensembl 69_37n +1 known frame_shift_del c.2289 p.G765fs 0.969 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 176 0 0.00 139 66 31.28 - - - HEATR1 0 genome.wustl.edu 37 1 236738190 236738190 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 236738190 236738190 T C SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.3098 p.Q1033R 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 179 1 0.56 350 62 15.01 - - - HEATR1 0 genome.wustl.edu 37 1 236761182 236761182 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 236761182 236761182 A G SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.599 p.V200A 1.000 NULL pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 327 0 0.00 632 105 14.25 - - - HEATR7B2 0 genome.wustl.edu 37 5 41012725 41012725 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 41012725 41012725 A T SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.3095 p.I1032N 0.408 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 250 1 0.40 179 71 28.40 - - - HELB 0 genome.wustl.edu 37 12 66725187 66725187 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 66725187 66725187 G A SNP HELB ENST00000247815 human ensembl 69_37n +1 known missense c.2924 p.S975N 0.000 NULL NULL - no_errors HELB HGNC ENSG00000127311 93 0 0.00 71 38 34.86 - - - HEPH 0 genome.wustl.edu 37 X 65409533 65409533 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 65409533 65409533 T C SNP HEPH ENST00000519389 human ensembl 69_37n +1 known silent c.978 p.N326 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 647 2 0.31 417 198 32.20 - - - HEXA 0 genome.wustl.edu 37 15 72640419 72640419 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 72640419 72640419 A G SNP HEXA ENST00000268097 human ensembl 69_37n -1 known missense c.1043 p.F348S 0.999 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXA HGNC ENSG00000213614 187 0 0.00 111 51 31.48 - - - HLCS 0 genome.wustl.edu 37 21 38309042 38309042 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 38309042 38309042 C T SNP HLCS ENST00000336648 human ensembl 69_37n -1 known missense c.703 p.A235T 1.000 NULL pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 88 0 0.00 68 33 32.35 - - - HMCN1 0 genome.wustl.edu 37 1 186083127 186083127 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 186083127 186083127 G - DEL HMCN1 ENST00000271588 human ensembl 69_37n +1 known frame_shift_del c.11148 p.G3718fs 0.562 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 96 0 0.00 236 48 16.49 - - - HMCN1 0 genome.wustl.edu 37 1 186114602 186114602 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 186114602 186114602 G A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.14334 p.M4778I 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 172 0 0.00 298 68 18.58 - - - HNRNPD 0 genome.wustl.edu 37 4 83276431 83276431 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 83276431 83276431 A - DEL HNRNPD ENST00000508119 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors HNRNPD HGNC ENSG00000138668 201 0 0.00 138 95 40.25 - - - HNRNPU 0 genome.wustl.edu 37 1 245019248 245019248 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 245019248 245019248 G A SNP HNRNPU ENST00000283179 human ensembl 69_37n -1 known missense c.2125 p.R709C 0.995 NULL pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC ENSG00000153187 436 0 0.00 825 188 18.52 - - - HNRNPUL1 0 genome.wustl.edu 37 19 41807551 41807551 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 41807551 41807551 A - DEL HNRNPUL1 ENST00000392006 human ensembl 69_37n +1 known frame_shift_del c.1629 p.K544fs 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL1 HGNC ENSG00000105323 224 0 0.00 160 88 35.06 - - - HOXA5 0 genome.wustl.edu 37 7 27182903 27182903 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 27182903 27182903 G - DEL HOXA5 ENST00000222726 human ensembl 69_37n -1 known frame_shift_del c.324 p.S109fs 0.612 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 36 0 0.00 22 12 35.29 - - - HOXD8 0 genome.wustl.edu 37 2 176995417 176995417 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 176995417 176995417 C - DEL HOXD8 ENST00000313173 human ensembl 69_37n +1 known frame_shift_del c.323 p.P110fs 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD8 HGNC ENSG00000175879 12 0 0.00 9 4 30.77 - - - HRC 0 genome.wustl.edu 37 19 49654782 49654782 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 49654782 49654782 G T SNP HRC ENST00000252825 human ensembl 69_37n -1 known silent c.2055 p.S685 0.805 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 192 0 0.00 129 66 33.85 - - - HS6ST2 0 genome.wustl.edu 37 X 132091143 132091143 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 132091143 132091143 C T SNP HS6ST2 ENST00000521489 human ensembl 69_37n -1 known missense c.640 p.D214N 1.000 NULL pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 78 0 0.00 51 26 33.77 - - - HSPA6 0 genome.wustl.edu 37 1 161496286 161496286 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 161496286 161496286 A G SNP HSPA6 ENST00000309758 human ensembl 69_37n +1 known missense c.1838 p.Y613C 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 47 0 0.00 82 13 13.54 - - - HSPA8 0 genome.wustl.edu 37 11 122929470 122929470 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 122929470 122929470 T C SNP HSPA8 ENST00000534624 human ensembl 69_37n -1 known missense c.1392 p.I464M 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 272 0 0.00 166 118 41.11 - - - HSPG2 0 genome.wustl.edu 37 1 22174392 22174392 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 22174392 22174392 G T SNP HSPG2 ENST00000453796 human ensembl 69_37n -1 known silent c.60 p.S20 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_start_codon:no_stop_codon HSPG2 HGNC ENSG00000142798 106 0 0.00 67 31 31.63 - - - HUS1 0 genome.wustl.edu 37 7 48016405 48016405 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 48016405 48016405 C T SNP HUS1 ENST00000442024 human ensembl 69_37n -1 known missense c.148 p.D50N 1.000 pfam_Hus1 pfam_Hus1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HUS1 HGNC ENSG00000136273 208 0 0.00 169 104 38.10 - - - HUWE1 0 genome.wustl.edu 37 X 53616683 53616683 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 53616683 53616683 C T SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.4285 p.D1429N 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 576 0 0.00 364 222 37.82 - - - HYAL3 0 genome.wustl.edu 37 3 50330902 50330902 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 50330902 50330902 G A SNP HYAL3 ENST00000336307 human ensembl 69_37n -1 known silent c.1029 p.G343 0.802 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL3 HGNC ENSG00000186792 74 0 0.00 23 33 58.93 - - - HYDIN 0 genome.wustl.edu 37 16 71007882 71007882 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 71007882 71007882 C A SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.5076 p.K1692N 0.242 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 287 0 0.00 379 48 11.21 - - - IARS2 0 genome.wustl.edu 37 1 220284183 220284183 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 220284183 220284183 T C SNP IARS2 ENST00000302637 human ensembl 69_37n +1 known silent c.1383 p.H461 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS2 HGNC ENSG00000067704 182 0 0.00 360 70 16.28 - - - IDS 0 genome.wustl.edu 37 X 148577173 148577173 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 148577173 148577173 A G SNP IDS ENST00000466019 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors IDS HGNC ENSG00000010404 133 0 0.00 108 43 28.29 - - - IER3 0 genome.wustl.edu 37 6 30711813 30711813 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 30711813 30711813 G - DEL IER3 ENST00000259874 human ensembl 69_37n -1 known frame_shift_del c.371 p.P124fs 0.001 NULL NULL - no_errors IER3 HGNC ENSG00000137331 214 0 0.00 120 59 32.07 - - - IFI16 0 genome.wustl.edu 37 1 158985711 158985711 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 158985711 158985711 T C SNP IFI16 ENST00000295809 human ensembl 69_37n +1 known silent c.315 p.T105 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 145 0 0.00 317 66 17.23 - - - IFI16 0 genome.wustl.edu 37 1 159002342 159002342 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 159002342 159002342 A G SNP IFI16 ENST00000295809 human ensembl 69_37n +1 known missense c.1190 p.N397S 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 219 1 0.45 409 88 17.71 - - - IFI44 0 genome.wustl.edu 37 1 79116277 79116277 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 79116277 79116277 C A SNP IFI44 ENST00000370747 human ensembl 69_37n +1 known missense c.397 p.L133I 0.010 pfam_TLDc pfam_TLDc - no_errors IFI44 HGNC ENSG00000137965 44 0 0.00 34 23 40.35 - - - IFIT1 0 genome.wustl.edu 37 10 91162830 91162830 + Silent SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 91162830 91162830 T G SNP IFIT1 ENST00000371804 human ensembl 69_37n +1 known silent c.798 p.S266 0.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 50 0 0.00 37 25 40.32 - - - IGFN1 0 genome.wustl.edu 37 1 201181672 201181672 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 201181672 201181672 C T SNP IGFN1 ENST00000335211 human ensembl 69_37n +1 known missense c.7651 p.R2551W 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 112 0 0.00 220 46 17.23 - - - IGHV1OR21-1 0 genome.wustl.edu 37 21 10862766 10862766 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 10862766 10862766 T C SNP IGHV1OR21-1 ENST00000559480 human ensembl 69_37n +1 known missense c.62 p.V21A 0.740 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGHV1OR21-1 HGNC ENSG00000169861 651 1 0.15 499 111 18.17 - - - IGHV3-48 0 genome.wustl.edu 37 14 106994247 106994247 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 106994247 106994247 C A SNP IGHV3-48 ENST00000390624 human ensembl 69_37n -1 known missense c.21 p.W7C 0.002 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-48 HGNC ENSG00000211964 695 0 0.00 469 278 37.17 - - - IGKV1D-42 0 genome.wustl.edu 37 2 90229434 90229434 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 90229434 90229434 G A SNP IGKV1D-42 ENST00000390278 human ensembl 69_37n +1 known missense c.254 p.S85N 1.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1D-42 HGNC ENSG00000211633 235 1 0.42 146 101 40.89 - - - IGKV3D-15 0 genome.wustl.edu 37 2 90154041 90154041 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 90154041 90154041 G A SNP IGKV3D-15 ENST00000417279 human ensembl 69_37n +1 known missense c.128 p.C43Y 1.000 pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3D-15 HGNC ENSG00000224041 70 0 0.00 55 32 36.78 - - - IGLV3-32 0 genome.wustl.edu 37 22 22937278 22937278 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 22937278 22937278 G A SNP IGLV3-32 ENST00000390303 human ensembl 69_37n +1 known silent c.96 p.L32 0.010 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGLV3-32 HGNC ENSG00000211657 190 0 0.00 124 68 35.42 - - - IGLV3-32 0 genome.wustl.edu 37 22 22937402 22937402 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 22937402 22937402 A G SNP IGLV3-32 ENST00000390303 human ensembl 69_37n +1 known missense c.220 p.R74G 0.972 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGLV3-32 HGNC ENSG00000211657 187 0 0.00 126 69 35.38 - - - IGLV3-32 0 genome.wustl.edu 37 22 22937403 22937403 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 22937403 22937403 G A SNP IGLV3-32 ENST00000390303 human ensembl 69_37n +1 known missense c.221 p.R74K 0.971 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGLV3-32 HGNC ENSG00000211657 189 0 0.00 125 70 35.90 - - - IGSF9 0 genome.wustl.edu 37 1 159904599 159904599 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 159904599 159904599 G A SNP IGSF9 ENST00000368094 human ensembl 69_37n -1 known silent c.687 p.I229 1.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 145 0 0.00 290 64 17.98 - - - IKBKE 0 genome.wustl.edu 37 1 206647810 206647810 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 206647810 206647810 A G SNP IKBKE ENST00000367120 human ensembl 69_37n +1 known missense c.224 p.E75G 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 IKBKE HGNC ENSG00000143466 96 0 0.00 203 41 16.73 - - - IKBKE 0 genome.wustl.edu 37 1 206649650 206649650 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 206649650 206649650 G A SNP IKBKE ENST00000367120 human ensembl 69_37n +1 known missense c.485 p.R162Q 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 IKBKE HGNC ENSG00000143466 195 0 0.00 354 113 24.04 - - - IKZF2 0 genome.wustl.edu 37 2 214013359 214013359 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 214013359 214013359 A G SNP IKZF2 ENST00000342002 human ensembl 69_37n -1 putative silent c.13 p.L5 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 245 0 0.00 195 82 29.60 - - - IL16 0 genome.wustl.edu 37 15 81598930 81598930 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 81598930 81598930 C T SNP IL16 ENST00000558332 human ensembl 69_37n +1 putative missense c.1757 p.A586V 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,prints_Interleukin-16,pfscan_PDZ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IL16 HGNC ENSG00000172349 113 0 0.00 67 30 30.93 - - - IL27 0 genome.wustl.edu 37 16 28511194 28511194 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 28511194 28511194 C T SNP IL27 ENST00000356897 human ensembl 69_37n -1 known silent c.510 p.E170 0.003 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 27 0 0.00 14 8 36.36 - - - IL4R 0 genome.wustl.edu 37 16 27357881 27357881 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 27357881 27357881 A G SNP IL4R ENST00000170630 human ensembl 69_37n +1 known missense c.455 p.Y152C 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 254 0 0.00 152 99 39.29 - - - IL5RA 0 genome.wustl.edu 37 3 3139881 3139881 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 3139881 3139881 T C SNP IL5RA ENST00000256452 human ensembl 69_37n -1 known missense c.461 p.H154R 0.174 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 625 3 0.48 399 232 36.71 - - - IL6R 0 genome.wustl.edu 37 1 154401730 154401730 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 154401730 154401730 G - DEL IL6R ENST00000368485 human ensembl 69_37n +1 known frame_shift_del c.144 p.V50fs 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL6R HGNC ENSG00000160712 118 0 0.00 210 39 15.54 - - - IL8 0 genome.wustl.edu 37 4 74608180 74608180 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 74608180 74608180 A - DEL IL8 ENST00000307407 human ensembl 69_37n +1 known frame_shift_del c.299 p.*100fs 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors IL8 HGNC ENSG00000169429 81 0 0.00 63 37 36.27 - - - ILF2 0 genome.wustl.edu 37 1 153634875 153634875 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 153634875 153634875 C A SNP ILF2 ENST00000361891 human ensembl 69_37n -1 known missense c.1170 p.E390D 1.000 NULL pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N - no_errors ILF2 HGNC ENSG00000143621 641 0 0.00 1129 248 18.01 - - - INCA1 0 genome.wustl.edu 37 17 4892806 4892806 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 4892806 4892806 C T SNP INCA1 ENST00000396829 human ensembl 69_37n -1 known silent c.312 p.Q104 0.716 NULL NULL - no_errors INCA1 HGNC ENSG00000196388 164 0 0.00 112 58 34.12 - - - INCENP 0 genome.wustl.edu 37 11 61906201 61906201 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 61906201 61906201 C - DEL INCENP ENST00000394818 human ensembl 69_37n +1 known frame_shift_del c.1132 p.E380fs 0.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 107 0 0.00 77 44 36.07 - - - INO80D 0 genome.wustl.edu 37 2 206920991 206920991 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 206920991 206920991 G A SNP INO80D ENST00000403263 human ensembl 69_37n -1 known nonsense c.895 p.R299* 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 246 0 0.00 167 95 36.26 - - - INPP5A 0 genome.wustl.edu 37 10 134523913 134523913 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 134523913 134523913 C A SNP INPP5A ENST00000342652 human ensembl 69_37n +1 known missense c.514 p.R172S 0.006 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region INPP5A HGNC ENSG00000068383 303 1 0.33 172 115 40.07 - - - INPP5B 0 genome.wustl.edu 37 1 38409556 38409556 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 38409556 38409556 G T SNP INPP5B ENST00000373023 human ensembl 69_37n -1 known silent c.162 p.L54 0.999 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 112 0 0.00 79 53 40.15 - - - INTS2 0 genome.wustl.edu 37 17 59945278 59945278 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 59945278 59945278 T C SNP INTS2 ENST00000444766 human ensembl 69_37n -1 known missense c.3361 p.I1121V 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 207 0 0.00 374 109 22.57 - - - INTS2 0 genome.wustl.edu 37 17 59947271 59947271 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 59947271 59947271 T C SNP INTS2 ENST00000444766 human ensembl 69_37n -1 known missense c.2881 p.S961G 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 133 0 0.00 307 59 16.12 - - - INTS6 0 genome.wustl.edu 37 13 52026593 52026593 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 52026593 52026593 G T SNP INTS6 ENST00000311234 human ensembl 69_37n -1 known silent c.69 p.T23 1.000 pfam_VWF_A,pfscan_VWF_A pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 113 0 0.00 67 42 38.53 - - - IQGAP1 0 genome.wustl.edu 37 15 91019924 91019925 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 91019924 91019925 - A INS IQGAP1 ENST00000268182 human ensembl 69_37n +1 known frame_shift_ins c.2814_2815 p.N940fs 0.998:1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 186 0 0.00 145 76 34.39 - - - IRF2 0 genome.wustl.edu 37 4 185309973 185309973 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 185309973 185309973 G A SNP IRF2 ENST00000393593 human ensembl 69_37n -1 known missense c.989 p.T330I 0.925 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 141 0 0.00 93 61 39.61 - - - IRF3 0 genome.wustl.edu 37 19 50164025 50164025 + Missense_Mutation SNP A A C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 50164025 50164025 A C SNP IRF3 ENST00000309877 human ensembl 69_37n -1 known missense c.1043 p.V348G 0.012 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 72 0 0.00 49 22 30.99 - - - ITFG3 0 genome.wustl.edu 37 16 314098 314098 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 314098 314098 C T SNP ITFG3 ENST00000301678 human ensembl 69_37n +1 known silent c.1272 p.S424 0.510 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ENSG00000167930 61 0 0.00 25 15 37.50 - - - ITFG3 0 genome.wustl.edu 37 16 314835 314835 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 314835 314835 C T SNP ITFG3 ENST00000424016 human ensembl 69_37n +1 novel missense c.392 p.T131M 0.785 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ITFG3 HGNC ENSG00000167930 46 0 0.00 22 18 45.00 - - - ITGAM 0 genome.wustl.edu 37 16 31342567 31342567 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 31342567 31342567 C T SNP ITGAM ENST00000544665 human ensembl 69_37n +1 known silent c.3361 p.L1121 0.964 prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 52 0 0.00 27 26 49.06 - - - ITGAV 0 genome.wustl.edu 37 2 187521085 187521085 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 187521085 187521085 G - DEL ITGAV ENST00000261023 human ensembl 69_37n +1 known frame_shift_del c.1676 p.G561fs 0.609 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 649 1 0.15 503 229 30.61 - - - ITGAV 0 genome.wustl.edu 37 2 187531911 187531911 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 187531911 187531911 T C SNP ITGAV ENST00000261023 human ensembl 69_37n +1 known missense c.2281 p.S761P 0.968 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 440 0 0.00 319 205 38.97 - - - ITGAX 0 genome.wustl.edu 37 16 31374656 31374656 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 31374656 31374656 C T SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known silent c.1671 p.H557 0.527 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 205 1 0.49 135 71 34.30 - - - ITGB2 0 genome.wustl.edu 37 21 46306283 46306283 + Nonstop_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 46306283 46306283 C A SNP ITGB2 ENST00000302347 human ensembl 69_37n -1 known nonstop c.2310 p.*770Y 0.368 NULL pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 177 0 0.00 125 89 41.59 - - - ITGB4 0 genome.wustl.edu 37 17 73725372 73725373 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 73725372 73725373 - C INS ITGB4 ENST00000200181 human ensembl 69_37n +1 known frame_shift_ins c.593_594 p.F201fs 1.000:0.996 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu 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 191 0 0.00 377 73 16.22 - - - ITGB6 0 genome.wustl.edu 37 2 160980367 160980367 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 160980367 160980367 C T SNP ITGB6 ENST00000283249 human ensembl 69_37n -1 known missense c.1916 p.G639D 0.996 pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 257 0 0.00 184 140 43.21 - - - ITIH4 0 genome.wustl.edu 37 3 52861123 52861123 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 52861123 52861123 G A SNP ITIH4 ENST00000266041 human ensembl 69_37n -1 known silent c.342 p.S114 0.076 pfam_VIT,smart_VIT pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 342 0 0.00 70 150 67.57 - - - ITLN2 0 genome.wustl.edu 37 1 160920969 160920969 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 160920969 160920969 A G SNP ITLN2 ENST00000368029 human ensembl 69_37n -1 known missense c.305 p.M102T 0.864 superfamily_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C - no_errors ITLN2 HGNC ENSG00000158764 222 0 0.00 364 73 16.63 - - - ITPR1 0 genome.wustl.edu 37 3 4841971 4841971 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 4841971 4841971 C T SNP ITPR1 ENST00000490572 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ITPR1 HGNC ENSG00000150995 14 0 0.00 12 6 30.00 - - - ITPR2 0 genome.wustl.edu 37 12 26753017 26753017 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 26753017 26753017 A G SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.3704 p.M1235T 1.000 pfam_Ca-rel_channel,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 288 0 0.00 181 132 42.17 - - - ITSN1 0 genome.wustl.edu 37 21 35183510 35183510 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 35183510 35183510 G A SNP ITSN1 ENST00000381285 human ensembl 69_37n +1 known missense c.2551 p.A851T 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ITSN1 HGNC ENSG00000205726 137 0 0.00 89 45 33.58 - - - JAG2 0 genome.wustl.edu 37 14 105614670 105614670 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 105614670 105614670 G A SNP JAG2 ENST00000331782 human ensembl 69_37n -1 known silent c.2127 p.C709 1.000 pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 10 0 0.00 14 7 31.82 - - - JAG2 0 genome.wustl.edu 37 14 105615580 105615580 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 105615580 105615580 G A SNP JAG2 ENST00000331782 human ensembl 69_37n -1 known silent c.1680 p.C560 0.996 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 70 0 0.00 37 27 42.19 - - - JDP2 0 genome.wustl.edu 37 14 75904745 75904745 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 75904745 75904745 G A SNP JDP2 ENST00000267569 human ensembl 69_37n +1 known missense c.155 p.R52H 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors JDP2 HGNC ENSG00000140044 85 0 0.00 68 36 34.62 - - - JMJD6 0 genome.wustl.edu 37 17 74719905 74719905 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 74719905 74719905 A T SNP JMJD6 ENST00000445478 human ensembl 69_37n -1 known missense c.754 p.F252I 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 369 0 0.00 673 161 19.30 - - - KANK3 0 genome.wustl.edu 37 19 8387756 8387756 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 8387756 8387756 G A SNP KANK3 ENST00000330915 human ensembl 69_37n -1 known silent c.2433 p.C811 0.001 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 146 1 0.67 43 108 71.05 - - - KAT2A 0 genome.wustl.edu 37 17 40270000 40270000 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 40270000 40270000 T C SNP KAT2A ENST00000225916 human ensembl 69_37n -1 known missense c.1216 p.I406V 0.985 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2A HGNC ENSG00000108773 72 0 0.00 24 39 61.90 - - - KAT6A 0 genome.wustl.edu 37 8 41791871 41791873 + In_Frame_Del DEL CTC CTC - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 41791871 41791873 CTC - DEL KAT6A ENST00000265713 human ensembl 69_37n -1 known in_frame_del c.3867_3865 p.E1289in_frame_del 1.000:1.000:1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 503 0 0.00 382 143 27.24 - - - KAT6B 0 genome.wustl.edu 37 10 76788956 76788956 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 76788956 76788956 T - DEL KAT6B ENST00000287239 human ensembl 69_37n +1 known frame_shift_del c.4374 p.L1460fs 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 164 0 0.00 110 55 32.93 - - - KAT8 0 genome.wustl.edu 37 16 31141589 31141591 + In_Frame_Del DEL AGA AGA - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 31141589 31141591 AGA - DEL KAT8 ENST00000448516 human ensembl 69_37n +1 known in_frame_del c.914_916 p.K306in_frame_del 1.000:1.000:1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 84 0 0.00 52 27 34.18 - - - KBTBD12 0 genome.wustl.edu 37 3 127649058 127649058 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 127649058 127649058 G A SNP KBTBD12 ENST00000405109 human ensembl 69_37n +1 known missense c.1424 p.R475Q 0.980 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 177 0 0.00 145 83 36.40 - - - KBTBD4 0 genome.wustl.edu 37 11 47594883 47594883 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 47594883 47594883 C - DEL KBTBD4 ENST00000430070 human ensembl 69_37n -1 known frame_shift_del c.1204 p.E402fs 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 203 0 0.00 158 79 32.78 - - - KCNA5 0 genome.wustl.edu 37 12 5153915 5153915 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 5153915 5153915 G A SNP KCNA5 ENST00000252321 human ensembl 69_37n +1 known missense c.602 p.R201H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 74 0 0.00 41 32 43.84 - - - KCNA6 0 genome.wustl.edu 37 12 4920419 4920419 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 4920419 4920419 G A SNP KCNA6 ENST00000280684 human ensembl 69_37n +1 known silent c.1212 p.S404 0.003 pfam_Ion_trans_dom,pfam_Ion_trans_2 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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 322 0 0.00 192 122 38.61 - - - KCND1 0 genome.wustl.edu 37 X 48825564 48825564 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 48825564 48825564 G A SNP KCND1 ENST00000218176 human ensembl 69_37n -1 known missense c.1115 p.T372M 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 177 0 0.00 115 65 36.11 - - - KCNH3 0 genome.wustl.edu 37 12 49937857 49937857 + Splice_Site SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 49937857 49937857 T C SNP KCNH3 ENST00000257981 human ensembl 69_37n +1 known splice_site c.981+2 e6+2 1.000 - - - no_errors KCNH3 HGNC ENSG00000135519 143 0 0.00 89 49 35.00 - - - KCNJ2 0 genome.wustl.edu 37 17 68171419 68171419 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 68171419 68171419 G A SNP KCNJ2 ENST00000243457 human ensembl 69_37n +1 known missense c.239 p.R80H 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 141 0 0.00 319 61 16.05 - - - KCNK4 0 genome.wustl.edu 37 11 64064700 64064700 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 64064700 64064700 G A SNP KCNK4 ENST00000538767 human ensembl 69_37n +1 putative missense c.224 p.G75D 0.096 NULL NULL - no_errors KCNK4 HGNC ENSG00000182450 52 0 0.00 20 17 45.95 - - - KCNMA1 0 genome.wustl.edu 37 10 78708960 78708960 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 78708960 78708960 A G SNP KCNMA1 ENST00000372403 human ensembl 69_37n -1 known missense c.2327 p.L776S 0.984 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KCNMA1 HGNC ENSG00000156113 119 0 0.00 79 52 39.69 - - - KCNQ2 0 genome.wustl.edu 37 20 62062704 62062704 + Nonsense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 62062704 62062704 G T SNP KCNQ2 ENST00000359125 human ensembl 69_37n -1 known nonsense c.1137 p.Y379* 0.998 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_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 289 0 0.00 176 91 33.96 - - - KCNT1 0 genome.wustl.edu 37 9 138649006 138649006 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 138649006 138649006 A T SNP KCNT1 ENST00000298480 human ensembl 69_37n +1 known missense c.605 p.N202I 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 76 0 0.00 34 27 44.26 - - - KCNV1 0 genome.wustl.edu 37 8 110980363 110980363 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 110980363 110980363 T C SNP KCNV1 ENST00000297404 human ensembl 69_37n -1 known missense c.1457 p.E486G 1.000 NULL pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 251 2 0.79 193 110 36.30 - - - KCTD19 0 genome.wustl.edu 37 16 67325658 67325658 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 67325658 67325658 G - DEL KCTD19 ENST00000304372 human ensembl 69_37n -1 known frame_shift_del c.2301 p.V768fs 0.051 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 179 0 0.00 124 52 29.05 - - - KDM5C 0 genome.wustl.edu 37 X 53223476 53223476 + Missense_Mutation SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 53223476 53223476 C G SNP KDM5C ENST00000375401 human ensembl 69_37n -1 known missense c.3883 p.A1295P 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 42 0 0.00 20 26 56.52 - - - KDM5C 0 genome.wustl.edu 37 X 53223478 53223478 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 53223478 53223478 T A SNP KDM5C ENST00000375401 human ensembl 69_37n -1 known missense c.3881 p.Q1294L 0.996 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 42 0 0.00 21 25 54.35 - - - KDM6A 0 genome.wustl.edu 37 X 44942009 44942009 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 44942009 44942009 A G SNP KDM6A ENST00000382899 human ensembl 69_37n +1 known missense c.3280 p.N1094D 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 519 0 0.00 327 197 37.60 - - - KDM6A 0 genome.wustl.edu 37 X 44949997 44949997 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 44949997 44949997 T C SNP KDM6A ENST00000382899 human ensembl 69_37n +1 known missense c.3787 p.Y1263H 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 461 0 0.00 349 169 32.38 - - - KDM8 0 genome.wustl.edu 37 16 27221801 27221801 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 27221801 27221801 C A SNP KDM8 ENST00000441782 human ensembl 69_37n +1 known silent c.471 p.A157 0.915 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC ENSG00000155666 32 0 0.00 15 13 46.43 - - - KDM8 0 genome.wustl.edu 37 16 27221874 27221874 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 27221874 27221874 A G SNP KDM8 ENST00000441782 human ensembl 69_37n +1 known missense c.544 p.I182V 0.027 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC ENSG00000155666 30 0 0.00 17 15 46.88 - - - KHSRP 0 genome.wustl.edu 37 19 6415897 6415898 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 6415897 6415898 - C INS KHSRP ENST00000398148 human ensembl 69_37n -1 known frame_shift_ins c.1609_1608 p.P536fs 1.000:0.001 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 12 0 0.00 13 12 48.00 - - - KIAA0146 0 genome.wustl.edu 37 8 48353052 48353052 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 48353052 48353052 G A SNP KIAA0146 ENST00000297423 human ensembl 69_37n +1 known missense c.1045 p.A349T 1.000 NULL NULL - no_errors KIAA0146 HGNC ENSG00000164808 86 0 0.00 56 38 40.43 - - - KIAA0182 0 genome.wustl.edu 37 16 85695039 85695039 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 85695039 85695039 C A SNP KIAA0182 ENST00000253458 human ensembl 69_37n +1 known missense c.1928 p.P643H 0.515 NULL pfam_DUF3736 - no_errors KIAA0182 HGNC ENSG00000131149 8 0 0.00 6 5 45.45 - - - KIAA0195 0 genome.wustl.edu 37 17 73493880 73493881 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 73493880 73493881 - C INS KIAA0195 ENST00000314256 human ensembl 69_37n +1 known frame_shift_ins c.3426_3427 p.H1144fs 1.000:1.000 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 218 0 0.00 351 55 13.55 - - - KIAA0319L 0 genome.wustl.edu 37 1 35906469 35906469 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 35906469 35906469 G A SNP KIAA0319L ENST00000485551 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors KIAA0319L HGNC ENSG00000142687 35 0 0.00 16 7 30.43 - - - KIAA0664 0 genome.wustl.edu 37 17 2593958 2593958 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 2593958 2593958 G A SNP KIAA0664 ENST00000435359 human ensembl 69_37n -1 known missense c.3860 p.A1287V 0.000 NULL superfamily_GSKIP/TIF31_domain - no_errors KIAA0664 HGNC ENSG00000132361 29 0 0.00 18 16 47.06 - - - KIAA0664 0 genome.wustl.edu 37 17 2607685 2607685 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 2607685 2607685 C T SNP KIAA0664 ENST00000435359 human ensembl 69_37n -1 known missense c.160 p.A54T 1.000 NULL superfamily_GSKIP/TIF31_domain - no_errors KIAA0664 HGNC ENSG00000132361 65 0 0.00 46 33 40.74 - - - KIAA0907 0 genome.wustl.edu 37 1 155891696 155891696 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155891696 155891696 T C SNP KIAA0907 ENST00000368321 human ensembl 69_37n -1 known missense c.968 p.Y323C 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 216 1 0.46 366 72 16.36 - - - KIAA0922 0 genome.wustl.edu 37 4 154542925 154542925 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 154542925 154542925 A G SNP KIAA0922 ENST00000409959 human ensembl 69_37n +1 known missense c.3783 p.I1261M 0.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 519 0 0.00 342 195 36.25 - - - KIAA1033 0 genome.wustl.edu 37 12 105546180 105546180 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 105546180 105546180 T C SNP KIAA1033 ENST00000332180 human ensembl 69_37n +1 known silent c.2709 p.P903 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 167 0 0.00 105 58 35.37 - - - KIAA1033 0 genome.wustl.edu 37 12 105553823 105553823 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 105553823 105553823 A G SNP KIAA1033 ENST00000332180 human ensembl 69_37n +1 known missense c.2957 p.E986G 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 102 0 0.00 63 24 27.27 - - - KIAA1244 0 genome.wustl.edu 37 6 138619770 138619770 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 138619770 138619770 T A SNP KIAA1244 ENST00000251691 human ensembl 69_37n +1 known missense c.3676 p.S1226T 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 200 1 0.49 156 89 36.03 - - - KIAA1324L 0 genome.wustl.edu 37 7 86569340 86569340 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 86569340 86569340 T - DEL KIAA1324L ENST00000450689 human ensembl 69_37n -1 known frame_shift_del c.833 p.N278fs 1.000 superfamily_Growth_fac_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324L HGNC ENSG00000164659 251 0 0.00 184 106 36.30 - - - KIAA1328 0 genome.wustl.edu 37 18 34752976 34752976 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 34752976 34752976 T C SNP KIAA1328 ENST00000587139 human ensembl 69_37n +1 putative missense c.1526 p.L509P 0.976 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA1328 HGNC ENSG00000150477 252 0 0.00 203 94 31.65 - - - KIAA1462 0 genome.wustl.edu 37 10 30317579 30317579 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 30317579 30317579 G A SNP KIAA1462 ENST00000375377 human ensembl 69_37n -1 known silent c.1498 p.L500 0.936 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 35 0 0.00 26 14 34.15 - - - KIAA1549L 0 genome.wustl.edu 37 11 33565451 33565451 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 33565451 33565451 C T SNP KIAA1549L ENST00000389726 human ensembl 69_37n +1 known missense c.1451 p.T484I 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 249 1 0.40 156 95 37.55 - - - KIAA1683 0 genome.wustl.edu 37 19 18375212 18375212 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 18375212 18375212 C A SNP KIAA1683 ENST00000392413 human ensembl 69_37n -1 known missense c.3138 p.W1046C 0.006 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 36 0 0.00 8 39 82.98 - - - KIAA1731 0 genome.wustl.edu 37 11 93416894 93416894 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 93416894 93416894 A G SNP KIAA1731 ENST00000411936 human ensembl 69_37n +1 known missense c.935 p.Y312C 1.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 262 0 0.00 149 101 40.40 - - - KIDINS220 0 genome.wustl.edu 37 2 8870951 8870951 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 8870951 8870951 G A SNP KIDINS220 ENST00000256707 human ensembl 69_37n -1 known missense c.5215 p.R1739C 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 479 0 0.00 293 158 35.03 - - - KIF17 0 genome.wustl.edu 37 1 20992772 20992772 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 20992772 20992772 G A SNP KIF17 ENST00000247986 human ensembl 69_37n -1 known missense c.2846 p.A949V 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 231 0 0.00 165 71 29.96 - - - KIF20B 0 genome.wustl.edu 37 10 91498334 91498335 + In_Frame_Ins INS - - AAG TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 91498334 91498335 - AAG INS KIF20B ENST00000416354 human ensembl 69_37n +1 known in_frame_ins c.3826_3827 p.1280in_frame_insE 0.846:0.846 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 50 0 0.00 54 18 25.00 - - - KIF23 0 genome.wustl.edu 37 15 69715526 69715526 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 69715526 69715526 A G SNP KIF23 ENST00000260363 human ensembl 69_37n +1 known missense c.592 p.M198V 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 143 0 0.00 91 45 33.09 - - - KIF24 0 genome.wustl.edu 37 9 34257623 34257623 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 34257623 34257623 T - DEL KIF24 ENST00000379166 human ensembl 69_37n -1 known frame_shift_del c.1982 p.K661fs 0.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 116 0 0.00 103 49 31.61 - - - KIF25-AS1 0 genome.wustl.edu 37 6 168396595 168396595 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 168396595 168396595 T C SNP KIF25-AS1 ENST00000414364 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors KIF25-AS1 HGNC ENSG00000229921 71 0 0.00 17 66 79.52 - - - KIF26B 0 genome.wustl.edu 37 1 245530587 245530587 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 245530587 245530587 C T SNP KIF26B ENST00000407071 human ensembl 69_37n +1 known missense c.917 p.S306L 0.999 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 69 0 0.00 119 33 21.71 - - - KIF2A 0 genome.wustl.edu 37 5 61653537 61653537 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 61653537 61653537 G A SNP KIF2A ENST00000407818 human ensembl 69_37n +1 known missense c.674 p.C225Y 1.000 smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 218 1 0.46 133 80 37.56 - - - KIRREL2 0 genome.wustl.edu 37 19 36353864 36353864 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 36353864 36353864 C T SNP KIRREL2 ENST00000360202 human ensembl 69_37n +1 known nonsense c.1651 p.R551* 0.970 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL2 HGNC ENSG00000126259 104 0 0.00 69 41 37.27 - - - KLHL17 0 genome.wustl.edu 37 1 897821 897821 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 897821 897821 C T SNP KLHL17 ENST00000338591 human ensembl 69_37n +1 known silent c.798 p.D266 0.567 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 50 0 0.00 25 12 32.43 - - - KLHL26 0 genome.wustl.edu 37 19 18779977 18779977 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 18779977 18779977 G A SNP KLHL26 ENST00000300976 human ensembl 69_37n +1 known silent c.1770 p.R590 0.997 pfam_Kelch_1,smart_Kelch_1,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 KLHL26 HGNC ENSG00000167487 13 0 0.00 1 5 83.33 - - - KLHL31 0 genome.wustl.edu 37 6 53519520 53519520 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 53519520 53519520 A G SNP KLHL31 ENST00000370905 human ensembl 69_37n -1 known missense c.551 p.L184P 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 282 0 0.00 202 131 39.22 - - - KPNA2 0 genome.wustl.edu 37 17 66040120 66040120 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 66040120 66040120 G A SNP KPNA2 ENST00000330459 human ensembl 69_37n +1 known missense c.1097 p.R366H 0.998 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 314 0 0.00 505 147 22.55 - - - KRI1 0 genome.wustl.edu 37 19 10668270 10668270 + Nonsense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 10668270 10668270 G T SNP KRI1 ENST00000312962 human ensembl 69_37n -1 known nonsense c.1593 p.Y531* 1.000 pfam_KRR1-interact_protein_1 pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 166 0 0.00 158 25 13.59 - - - KRT1 0 genome.wustl.edu 37 12 53073854 53073854 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 53073854 53073854 A G SNP KRT1 ENST00000252244 human ensembl 69_37n -1 known silent c.279 p.G93 0.070 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 997 1 0.10 498 315 38.23 - - - KRT25 0 genome.wustl.edu 37 17 38911447 38911447 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 38911447 38911447 C T SNP KRT25 ENST00000312150 human ensembl 69_37n -1 known missense c.77 p.G26E 0.003 NULL pfam_F,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 46 0 0.00 15 16 50.00 - - - KRT37 0 genome.wustl.edu 37 17 39580442 39580442 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 39580442 39580442 T C SNP KRT37 ENST00000225550 human ensembl 69_37n -1 known missense c.334 p.N112D 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT37 HGNC ENSG00000108417 257 0 0.00 59 94 61.44 - - - KRT75 0 genome.wustl.edu 37 12 52822086 52822086 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 52822086 52822086 C T SNP KRT75 ENST00000252245 human ensembl 69_37n -1 known missense c.1336 p.V446M 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 123 0 0.00 79 60 43.17 - - - KRTAP10-5 0 genome.wustl.edu 37 21 46000150 46000150 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 46000150 46000150 G T SNP KRTAP10-5 ENST00000400372 human ensembl 69_37n -1 known silent c.306 p.T102 0.174 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 350 0 0.00 188 114 37.75 - - - KRTAP10-9 0 genome.wustl.edu 37 21 46047347 46047347 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 46047347 46047347 C T SNP KRTAP10-9 ENST00000397911 human ensembl 69_37n +1 known missense c.259 p.P87S 0.015 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 235 0 0.00 130 82 38.68 - - - KRTAP5-9 0 genome.wustl.edu 37 11 71259915 71259915 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 71259915 71259915 G A SNP KRTAP5-9 ENST00000528743 human ensembl 69_37n +1 known missense c.212 p.G71D 0.764 NULL NULL - no_errors KRTAP5-9 HGNC ENSG00000254997 457 2 0.43 273 135 33.01 - - - LACC1 0 genome.wustl.edu 37 13 44456417 44456417 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 44456417 44456417 A G SNP LACC1 ENST00000325686 human ensembl 69_37n +1 known missense c.659 p.D220G 1.000 pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 214 0 0.00 186 94 33.57 - - - LAMP5 0 genome.wustl.edu 37 20 9510335 9510335 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 9510335 9510335 G A SNP LAMP5 ENST00000246070 human ensembl 69_37n +1 known silent c.711 p.L237 1.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop - no_errors LAMP5 HGNC ENSG00000125869 203 0 0.00 135 89 39.73 - - - LARGE 0 genome.wustl.edu 37 22 33670448 33670448 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 33670448 33670448 C T SNP LARGE ENST00000354992 human ensembl 69_37n -1 known missense c.2236 p.A746T 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 240 0 0.00 174 110 38.06 - - - LARP7 0 genome.wustl.edu 37 4 113578483 113578483 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 113578483 113578483 A - DEL LARP7 ENST00000324052 human ensembl 69_37n +1 known frame_shift_del c.1749 p.*583fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 109 1 0.90 91 42 31.34 - - - LDHA 0 genome.wustl.edu 37 11 18425290 18425290 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 18425290 18425290 G A SNP LDHA ENST00000541097 human ensembl 69_37n +1 known missense c.250 p.A84T 0.548 NULL pfam_Lactate/malate_DH_N,prints_L-lactate/malate_DH - no_errors LDHA HGNC ENSG00000134333 562 3 0.53 364 215 37.13 - - - LECT1 0 genome.wustl.edu 37 13 53298181 53298181 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 53298181 53298181 C T SNP LECT1 ENST00000377962 human ensembl 69_37n -1 known missense c.419 p.R140H 0.393 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 284 0 0.00 191 105 35.47 - - - LEMD1 0 genome.wustl.edu 37 1 205389680 205389680 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 205389680 205389680 G A SNP LEMD1 ENST00000476884 human ensembl 69_37n -1 known rna NULL NULL 0.014 - - - no_errors LEMD1 HGNC ENSG00000186007 270 0 0.00 484 93 16.09 - - - LENEP 0 genome.wustl.edu 37 1 154966118 154966118 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 154966118 154966118 T C SNP LENEP ENST00000368427 human ensembl 69_37n +1 known missense c.35 p.L12P 0.592 NULL NULL - no_errors LENEP HGNC ENSG00000163352 115 1 0.86 193 40 17.17 - - - LGALS12 0 genome.wustl.edu 37 11 63283151 63283151 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 63283151 63283151 C - DEL LGALS12 ENST00000340246 human ensembl 69_37n +1 known frame_shift_del c.833 p.F280fs 0.994 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS12 HGNC ENSG00000133317 115 1 0.85 67 41 37.61 - - - LGALS3BP 0 genome.wustl.edu 37 17 76972105 76972105 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 76972105 76972105 G A SNP LGALS3BP ENST00000262776 human ensembl 69_37n -1 known silent c.186 p.C62 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,prints_Srcr_rcpt,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt - no_errors LGALS3BP HGNC ENSG00000108679 28 0 0.00 46 13 22.03 - - - LGSN 0 genome.wustl.edu 37 6 63990012 63990012 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 63990012 63990012 G A SNP LGSN ENST00000370657 human ensembl 69_37n -1 known nonsense c.1444 p.R482* 0.971 NULL pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 137 1 0.72 102 57 35.85 - - - LIG1 0 genome.wustl.edu 37 19 48668813 48668813 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 48668813 48668813 C T SNP LIG1 ENST00000263274 human ensembl 69_37n -1 known missense c.11 p.S4N 1.000 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 337 0 0.00 213 134 38.62 - - - LILRB5 0 genome.wustl.edu 37 19 54756385 54756385 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 54756385 54756385 G A SNP LILRB5 ENST00000450632 human ensembl 69_37n -1 known missense c.1475 p.A492V 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB5 HGNC ENSG00000105609 417 0 0.00 229 123 34.55 - - - LIMK2 0 genome.wustl.edu 37 22 31672777 31672777 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 31672777 31672777 C - DEL LIMK2 ENST00000340552 human ensembl 69_37n +1 putative frame_shift_del c.1712 p.575fs 0.996 smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 13 0 0.00 15 6 27.27 - - - LINC00226 0 genome.wustl.edu 37 14 106744279 106744279 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 106744279 106744279 C T SNP LINC00226 ENST00000458560 human ensembl 69_37n +1 known rna NULL NULL 0.623 - - - no_errors LINC00226 HGNC ENSG00000229084 67 0 0.00 53 27 33.75 - - - LIPA 0 genome.wustl.edu 37 10 90984930 90984930 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 90984930 90984930 A - DEL LIPA ENST00000425287 human ensembl 69_37n -1 known frame_shift_del c.600 p.F200fs 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 313 0 0.00 226 106 31.74 - - - LIPJ 0 genome.wustl.edu 37 10 90366448 90366448 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 90366448 90366448 C T SNP LIPJ ENST00000371939 human ensembl 69_37n +1 known silent c.885 p.Y295 0.806 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 155 0 0.00 130 70 35.00 - - - LMAN1 0 genome.wustl.edu 37 18 57006121 57006121 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 57006121 57006121 A G SNP LMAN1 ENST00000251047 human ensembl 69_37n -1 known silent c.1020 p.R340 0.962 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl,superfamily_HMG_superfamily - no_errors LMAN1 HGNC ENSG00000074695 346 0 0.00 235 162 40.60 - - - LMCD1 0 genome.wustl.edu 37 3 8609226 8609226 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 8609226 8609226 A G SNP LMCD1 ENST00000157600 human ensembl 69_37n +1 known missense c.1040 p.Y347C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 127 1 0.78 95 57 37.50 - - - LPCAT4 0 genome.wustl.edu 37 15 34654781 34654781 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 34654781 34654781 T C SNP LPCAT4 ENST00000314891 human ensembl 69_37n -1 known missense c.877 p.M293V 1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors LPCAT4 HGNC ENSG00000176454 142 0 0.00 108 50 31.65 - - - LPPR4 0 genome.wustl.edu 37 1 99771829 99771829 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 99771829 99771829 G T SNP LPPR4 ENST00000370185 human ensembl 69_37n +1 known missense c.1555 p.G519W 0.999 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors RP4-788L13.1 Clone_based_vega_gene ENSG00000117600 102 0 0.00 53 31 36.90 - - - LRP1 0 genome.wustl.edu 37 12 57559871 57559871 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 57559871 57559871 G A SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known silent c.2676 p.Q892 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 119 0 0.00 71 39 35.45 - - - LRP1 0 genome.wustl.edu 37 12 57603939 57603940 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 57603939 57603940 - C INS LRP1 ENST00000243077 human ensembl 69_37n +1 known frame_shift_ins c.12567_12568 p.D4192fs 0.037:0.113 superfamily_Growth_fac_rcpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 68 0 0.00 45 20 30.77 - - - LRP1B 0 genome.wustl.edu 37 2 141259407 141259407 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 141259407 141259407 T - DEL LRP1B ENST00000389484 human ensembl 69_37n -1 known frame_shift_del c.8699 p.N2900fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 200 0 0.00 157 88 35.48 - - - LRP2 0 genome.wustl.edu 37 2 169997024 169997025 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 169997024 169997025 - G INS LRP2 ENST00000263816 human ensembl 69_37n -1 known frame_shift_ins c.13140_13139 p.C4381fs 1.000:1.000 superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 158 1 0.63 143 42 22.70 - - - LRRC15 0 genome.wustl.edu 37 3 194080416 194080416 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 194080416 194080416 A G SNP LRRC15 ENST00000439944 human ensembl 69_37n -1 known missense c.1375 p.C459R 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 326 1 0.30 165 111 39.93 - - - LRRC17 0 genome.wustl.edu 37 7 102584993 102584993 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 102584993 102584993 A - DEL LRRC17 ENST00000339431 human ensembl 69_37n +1 known frame_shift_del c.1265 p.K424fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 171 0 0.00 108 78 41.49 - - - LRRC24 0 genome.wustl.edu 37 8 145748042 145748042 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 145748042 145748042 G - DEL LRRC24 ENST00000529415 human ensembl 69_37n -1 known frame_shift_del c.1359 p.C454fs 1.000 NULL pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC24 HGNC ENSG00000254402 26 0 0.00 18 10 35.71 - - - LRRC32 0 genome.wustl.edu 37 11 76372553 76372553 + Splice_Site SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 76372553 76372553 C A SNP LRRC32 ENST00000260061 human ensembl 69_37n -1 known splice_site c.85-1 e2-1 1.000 - - - no_errors LRRC32 HGNC ENSG00000137507 75 0 0.00 41 34 45.33 - - - LRRC4 0 genome.wustl.edu 37 7 127670590 127670590 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 127670590 127670590 A G SNP LRRC4 ENST00000249363 human ensembl 69_37n -1 known missense c.104 p.I35T 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4 HGNC ENSG00000128594 123 0 0.00 77 37 32.46 - - - LRRC41 0 genome.wustl.edu 37 1 46744490 46744491 + RNA INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 46744490 46744491 - A INS LRRC41 ENST00000472710 human ensembl 69_37n -1 known rna NULL NULL 0.972:0.977 - - - no_errors LRRC41 HGNC ENSG00000132128 29 0 0.00 29 11 27.50 - - - LRRC45 0 genome.wustl.edu 37 17 79981611 79981611 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 79981611 79981611 C T SNP LRRC45 ENST00000306688 human ensembl 69_37n +1 known missense c.92 p.P31L 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC45 HGNC ENSG00000169683 14 0 0.00 29 7 19.44 - - - LRRC48 0 genome.wustl.edu 37 17 17900865 17900865 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 17900865 17900865 A G SNP LRRC48 ENST00000313838 human ensembl 69_37n +1 known missense c.916 p.S306G 0.964 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 226 0 0.00 160 85 34.69 - - - LRRC8E 0 genome.wustl.edu 37 19 7960502 7960502 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 7960502 7960502 C T SNP LRRC8E ENST00000306708 human ensembl 69_37n +1 known missense c.14 p.A5V 0.778 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 101 0 0.00 75 47 37.90 - - - LRRTM4 0 genome.wustl.edu 37 2 77746929 77746929 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 77746929 77746929 C A SNP LRRTM4 ENST00000409911 human ensembl 69_37n -1 known silent c.69 p.L23 0.977 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 213 0 0.00 144 81 36.00 - - - LSM14B 0 genome.wustl.edu 37 20 60699716 60699716 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 60699716 60699716 G A SNP LSM14B ENST00000253001 human ensembl 69_37n +1 known silent c.171 p.A57 0.504 superfamily_LSM_dom pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 117 1 0.85 95 66 40.99 - - - LTBR 0 genome.wustl.edu 37 12 6497483 6497483 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 6497483 6497483 G A SNP LTBR ENST00000541005 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors LTBR HGNC ENSG00000111321 134 0 0.00 70 45 39.13 - - - LY75 0 genome.wustl.edu 37 2 160692127 160692127 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 160692127 160692127 C A SNP LY75 ENST00000554112 human ensembl 69_37n -1 known silent c.3537 p.G1179 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 152 0 0.00 89 81 47.65 - - - LYST 0 genome.wustl.edu 37 1 235856727 235856727 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 235856727 235856727 C T SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.10624 p.A3542T 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 208 0 0.00 375 68 15.32 - - - LYST 0 genome.wustl.edu 37 1 235926116 235926116 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 235926116 235926116 T C SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.6157 p.M2053V 0.999 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 132 0 0.00 309 62 16.71 - - - LYST 0 genome.wustl.edu 37 1 235972931 235972931 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 235972931 235972931 T C SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.1187 p.H396R 0.998 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 146 0 0.00 313 62 16.53 - - - MAGIX 0 genome.wustl.edu 37 X 49021636 49021636 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 49021636 49021636 C T SNP MAGIX ENST00000412696 human ensembl 69_37n +1 known missense c.616 p.R206C 0.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 41 0 0.00 29 19 38.78 - - - MAML2 0 genome.wustl.edu 37 11 96074878 96074878 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 96074878 96074878 C T SNP MAML2 ENST00000440572 human ensembl 69_37n -1 known missense c.182 p.G61D 0.999 pfam_Neuroggenic_mastermind-like_N pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 57 0 0.00 40 30 42.86 - - - MAML3 0 genome.wustl.edu 37 4 140640638 140640638 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 140640638 140640638 G A SNP MAML3 ENST00000509479 human ensembl 69_37n -1 known missense c.3256 p.R1086W 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 145 0 0.00 86 68 44.16 - - - MAMLD1 0 genome.wustl.edu 37 X 149638928 149638928 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 149638928 149638928 C - DEL MAMLD1 ENST00000432680 human ensembl 69_37n +1 known frame_shift_del c.1008 p.Q338fs 1.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 89 0 0.00 53 21 27.27 - - - MAN2A2 0 genome.wustl.edu 37 15 91450543 91450543 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 91450543 91450543 G A SNP MAN2A2 ENST00000360468 human ensembl 69_37n +1 known silent c.1014 p.S338 0.004 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 72 0 0.00 50 24 32.00 - - - MAN2B1 0 genome.wustl.edu 37 19 12768311 12768311 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 12768311 12768311 G A SNP MAN2B1 ENST00000456935 human ensembl 69_37n -1 known silent c.1368 p.H456 0.992 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 14 0 0.00 10 7 41.18 - - - MAP1A 0 genome.wustl.edu 37 15 43813746 43813747 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 43813746 43813747 - C INS MAP1A ENST00000399453 human ensembl 69_37n +1 known frame_shift_ins c.75_76 p.T27fs 1.000:1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 230 0 0.00 164 79 32.51 - - - MAP3K1 0 genome.wustl.edu 37 5 56160724 56160724 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 56160724 56160724 G T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel missense c.998 p.S333I 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 233 0 0.00 189 98 33.91 - - - MAP3K11 0 genome.wustl.edu 37 11 65365835 65365835 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 65365835 65365835 C - DEL MAP3K11 ENST00000309100 human ensembl 69_37n -1 known frame_shift_del c.2471 p.G824fs 0.196 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,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 MAP3K11 HGNC ENSG00000173327 66 0 0.00 31 21 39.62 - - - MAP3K12 0 genome.wustl.edu 37 12 53879891 53879891 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 53879891 53879891 A G SNP MAP3K12 ENST00000267079 human ensembl 69_37n -1 known missense c.671 p.M224T 1.000 pirsf_MAP3K12_MAP3K13,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_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K12 HGNC ENSG00000139625 166 1 0.60 129 79 37.98 - - - MAPK4 0 genome.wustl.edu 37 18 48256159 48256159 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 48256159 48256159 G A SNP MAPK4 ENST00000400384 human ensembl 69_37n +1 known missense c.1699 p.A567T 0.938 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,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 23 0 0.00 14 7 33.33 - - - MAPKAP1 0 genome.wustl.edu 37 9 128201231 128201232 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 128201231 128201232 - T INS MAPKAP1 ENST00000265960 human ensembl 69_37n -1 known frame_shift_ins c.1504_1503 p.Q501fs 1.000:1.000 NULL pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 362 0 0.00 231 124 34.93 - - - MAPKBP1 0 genome.wustl.edu 37 15 42114459 42114459 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 42114459 42114459 T C SNP MAPKBP1 ENST00000456763 human ensembl 69_37n +1 known missense c.3086 p.I1029T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 62 0 0.00 35 20 35.71 - - - MARCH10 0 genome.wustl.edu 37 17 60782905 60782905 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 60782905 60782905 T - DEL MARCH10 ENST00000311269 human ensembl 69_37n -1 known frame_shift_del c.2366 p.N789fs 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 298 0 0.00 553 100 15.20 - - - MARCH6 0 genome.wustl.edu 37 5 10430051 10430052 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 10430051 10430052 - T INS MARCH6 ENST00000274140 human ensembl 69_37n +1 known frame_shift_ins c.2553_2554 p.L852fs 0.388:0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 538 0 0.00 449 169 27.35 - - - MARVELD3 0 genome.wustl.edu 37 16 71663366 71663366 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 71663366 71663366 C T SNP MARVELD3 ENST00000565261 human ensembl 69_37n +1 putative missense c.401 p.A134V 1.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 142 1 0.70 106 55 34.16 - - - MBL1P 0 genome.wustl.edu 37 10 81667511 81667511 + RNA DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 81667511 81667511 G - DEL MBL1P ENST00000453174 human ensembl 69_37n +1 known rna NULL NULL 0.976 - - - no_errors MBL1P HGNC ENSG00000242600 69 0 0.00 34 39 51.32 - - - MBOAT7 0 genome.wustl.edu 37 19 54678002 54678002 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 54678002 54678002 C - DEL MBOAT7 ENST00000245615 human ensembl 69_37n -1 known frame_shift_del c.1155 p.R386fs 0.033 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 65 0 0.00 51 21 28.00 - - - MBP 0 genome.wustl.edu 37 18 74701940 74701940 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 74701940 74701940 T C SNP MBP ENST00000355994 human ensembl 69_37n -1 known missense c.653 p.N218S 0.998 pfam_Myelin_BP,prints_Myelin_BP pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 550 2 0.35 362 193 34.22 - - - MBTPS2 0 genome.wustl.edu 37 X 21900733 21900733 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 21900733 21900733 C T SNP MBTPS2 ENST00000379484 human ensembl 69_37n +1 known missense c.1520 p.A507V 1.000 pfam_Peptidase_M50 pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP - no_errors MBTPS2 HGNC ENSG00000012174 446 1 0.22 365 214 36.90 - - - MCHR2 0 genome.wustl.edu 37 6 100403852 100403852 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 100403852 100403852 T C SNP MCHR2 ENST00000281806 human ensembl 69_37n -1 known missense c.172 p.T58A 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 89 0 0.00 57 35 38.04 - - - MCM8 0 genome.wustl.edu 37 20 5953787 5953787 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 5953787 5953787 A T SNP MCM8 ENST00000378886 human ensembl 69_37n +1 known missense c.1460 p.D487V 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 357 0 0.00 205 157 43.25 - - - MCOLN2 0 genome.wustl.edu 37 1 85403543 85403543 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 85403543 85403543 C T SNP MCOLN2 ENST00000370608 human ensembl 69_37n -1 known missense c.1230 p.M410I 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 261 0 0.00 159 92 36.65 - - - MCOLN2 0 genome.wustl.edu 37 1 85405343 85405343 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 85405343 85405343 A G SNP MCOLN2 ENST00000370608 human ensembl 69_37n -1 known missense c.1003 p.C335R 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 200 0 0.00 150 87 36.40 - - - MDGA1 0 genome.wustl.edu 37 6 37606043 37606043 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 37606043 37606043 G A SNP MDGA1 ENST00000297153 human ensembl 69_37n -1 known missense c.2726 p.A909V 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC ENSG00000112139 276 0 0.00 173 96 35.69 - - - MDGA1 0 genome.wustl.edu 37 6 37626113 37626113 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 37626113 37626113 C T SNP MDGA1 ENST00000297153 human ensembl 69_37n -1 known missense c.290 p.R97H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC ENSG00000112139 57 0 0.00 46 22 32.35 - - - MDGA2 0 genome.wustl.edu 37 14 47530771 47530771 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 47530771 47530771 T - DEL MDGA2 ENST00000399232 human ensembl 69_37n -1 known frame_shift_del c.1206 p.G403fs 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 116 0 0.00 99 69 40.59 - - - MECOM 0 genome.wustl.edu 37 3 169381319 169381319 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 169381319 169381319 C T SNP MECOM ENST00000485957 human ensembl 69_37n -1 known rna NULL NULL 0.008 - - - no_errors MECOM HGNC ENSG00000085276 97 0 0.00 73 36 33.03 - - - MEGF8 0 genome.wustl.edu 37 19 42860340 42860340 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 42860340 42860340 T C SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known missense c.4498 p.S1500P 0.964 NULL pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 75 0 0.00 51 22 30.14 - - - MEN1 0 genome.wustl.edu 37 11 64573679 64573679 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 64573679 64573679 C T SNP MEN1 ENST00000478548 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MEN1 HGNC ENSG00000133895 144 0 0.00 83 63 42.86 - - - MEOX2 0 genome.wustl.edu 37 7 15652091 15652091 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 15652091 15652091 G A SNP MEOX2 ENST00000262041 human ensembl 69_37n -1 known missense c.836 p.T279I 0.993 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 319 1 0.31 203 143 41.33 - - - MFI2 0 genome.wustl.edu 37 3 196735739 196735739 + Silent SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 196735739 196735739 G C SNP MFI2 ENST00000296350 human ensembl 69_37n -1 known silent c.1623 p.G541 0.998 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors MFI2 HGNC ENSG00000163975 236 0 0.00 147 82 35.65 - - - MGAT5B 0 genome.wustl.edu 37 17 74943951 74943951 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 74943951 74943951 C T SNP MGAT5B ENST00000428789 human ensembl 69_37n +1 known missense c.1990 p.H664Y 0.519 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MGAT5B HGNC ENSG00000167889 97 0 0.00 173 34 16.43 - - - MIA3 0 genome.wustl.edu 37 1 222833273 222833273 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 222833273 222833273 G A SNP MIA3 ENST00000344441 human ensembl 69_37n +1 known missense c.4900 p.A1634T 1.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 241 0 0.00 431 96 18.18 - - - MICALL2 0 genome.wustl.edu 37 7 1484421 1484422 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 1484421 1484422 - G INS MICALL2 ENST00000297508 human ensembl 69_37n -1 known frame_shift_ins c.1285_1284 p.G428fs 0.001:0.095 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 23 0 0.00 19 8 29.63 - - - MIF4GD 0 genome.wustl.edu 37 17 73262964 73262964 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 73262964 73262964 G A SNP MIF4GD ENST00000577542 human ensembl 69_37n -1 known silent c.649 p.L217 0.996 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold - no_errors MIF4GD HGNC ENSG00000125457 105 1 0.93 222 41 15.53 - - - MIR181D 0 genome.wustl.edu 37 19 13985691 13985691 + RNA DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 13985691 13985691 C - DEL MIR181D ENST00000384853 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MIR181D HGNC ENSG00000207585 101 0 0.00 25 55 66.27 - - - MIR3911 0 genome.wustl.edu 37 9 130453049 130453049 + RNA SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 130453049 130453049 T G SNP MIR3911 ENST00000577791 human ensembl 69_37n -1 known rna NULL NULL 0.884 - - - no_errors MIR3911 HGNC ENSG00000264329 258 0 0.00 179 92 33.82 - - - MIR525 0 genome.wustl.edu 37 19 54200830 54200830 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 54200830 54200830 A - DEL MIR525 ENST00000384978 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors MIR525 HGNC ENSG00000207711 426 0 0.00 251 117 31.45 - - - MKS1 0 genome.wustl.edu 37 17 56284466 56284466 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 56284466 56284466 G A SNP MKS1 ENST00000393119 human ensembl 69_37n -1 known missense c.1387 p.R463W 1.000 pfam_B9_dom pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 119 0 0.00 232 36 13.38 - - - MLF1 0 genome.wustl.edu 37 3 158315964 158315964 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 158315964 158315964 G T SNP MLF1 ENST00000392822 human ensembl 69_37n +1 known missense c.468 p.Q156H 1.000 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF1 HGNC ENSG00000178053 159 0 0.00 134 67 33.33 - - - MLL2 0 genome.wustl.edu 37 12 49435219 49435219 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 49435219 49435219 C - DEL MLL2 ENST00000301067 human ensembl 69_37n -1 known frame_shift_del c.6334 p.A2112fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 20 0 0.00 12 10 43.48 - - - MLL2 0 genome.wustl.edu 37 12 49446809 49446809 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 49446809 49446809 T A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.1001 p.N334I 0.928 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 75 0 0.00 51 30 37.04 - - - MLL4 0 genome.wustl.edu 37 19 36210803 36210803 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 36210803 36210803 G A SNP MLL4 ENST00000222270 human ensembl 69_37n +1 known missense c.554 p.G185D 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors MLL4 Clone_based_vega_gene ENSG00000105663 34 0 0.00 24 15 38.46 - - - MLL5 0 genome.wustl.edu 37 7 104730706 104730706 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 104730706 104730706 G A SNP MLL5 ENST00000257745 human ensembl 69_37n +1 known missense c.1609 p.V537I 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 134 1 0.74 87 58 40.00 - - - MLPH 0 genome.wustl.edu 37 2 238419703 238419703 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 238419703 238419703 C T SNP MLPH ENST00000264605 human ensembl 69_37n +1 known missense c.404 p.A135V 1.000 NULL pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC ENSG00000115648 184 0 0.00 121 70 36.46 - - - MLPH 0 genome.wustl.edu 37 2 238436066 238436066 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 238436066 238436066 C T SNP MLPH ENST00000436965 human ensembl 69_37n +1 novel missense c.173 p.P58L 0.982 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MLPH HGNC ENSG00000115648 146 0 0.00 113 51 31.10 - - - MMP17 0 genome.wustl.edu 37 12 132325242 132325242 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 132325242 132325242 G A SNP MMP17 ENST00000360564 human ensembl 69_37n +1 known missense c.547 p.A183T 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP17 HGNC ENSG00000198598 21 0 0.00 9 9 50.00 - - - MMP24 0 genome.wustl.edu 37 20 33839815 33839815 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 33839815 33839815 T A SNP MMP24 ENST00000246186 human ensembl 69_37n +1 known missense c.503 p.I168N 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP24 HGNC ENSG00000125966 186 0 0.00 141 79 35.75 - - - MMP24 0 genome.wustl.edu 37 20 33862164 33862164 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 33862164 33862164 C T SNP MMP24 ENST00000246186 human ensembl 69_37n +1 known missense c.1690 p.R564C 0.357 pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP24 HGNC ENSG00000125966 172 0 0.00 114 68 37.36 - - - MMRN1 0 genome.wustl.edu 37 4 90844346 90844346 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 90844346 90844346 C T SNP MMRN1 ENST00000264790 human ensembl 69_37n +1 known missense c.878 p.T293I 0.962 NULL pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC ENSG00000138722 247 0 0.00 210 110 34.38 - - - MNX1 0 genome.wustl.edu 37 7 156799232 156799232 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 156799232 156799232 A G SNP MNX1 ENST00000252971 human ensembl 69_37n -1 known missense c.793 p.Y265H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors MNX1 HGNC ENSG00000130675 52 0 0.00 24 24 50.00 - - - MOAP1 0 genome.wustl.edu 37 14 93649593 93649593 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 93649593 93649593 T C SNP MOAP1 ENST00000298894 human ensembl 69_37n -1 known missense c.995 p.Y332C 0.000 NULL NULL - no_errors MOAP1 HGNC ENSG00000165943 229 0 0.00 145 88 37.77 - - - MORN1 0 genome.wustl.edu 37 1 2303937 2303937 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 2303937 2303937 T C SNP MORN1 ENST00000378531 human ensembl 69_37n -1 known missense c.728 p.H243R 0.000 NULL pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 115 0 0.00 80 34 29.57 - - - MPEG1 0 genome.wustl.edu 37 11 58979700 58979700 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 58979700 58979700 A G SNP MPEG1 ENST00000361050 human ensembl 69_37n -1 known silent c.639 p.A213 0.055 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 147 0 0.00 115 59 33.91 - - - MPG 0 genome.wustl.edu 37 16 133162 133163 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 133162 133163 - C INS MPG ENST00000219431 human ensembl 69_37n +1 known frame_shift_ins c.427_428 p.R145fs 1.000:1.000 pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 92 0 0.00 80 30 27.27 - - - MR1 0 genome.wustl.edu 37 1 181018296 181018296 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 181018296 181018296 A G SNP MR1 ENST00000367580 human ensembl 69_37n +1 known missense c.176 p.D59G 0.957 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like - no_errors MR1 HGNC ENSG00000153029 148 0 0.00 335 50 12.95 - - - MRAP 0 genome.wustl.edu 37 21 33679042 33679042 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 33679042 33679042 G A SNP MRAP ENST00000303645 human ensembl 69_37n +1 known silent c.198 p.P66 0.000 NULL NULL - no_errors MRAP HGNC ENSG00000170262 282 2 0.70 160 103 39.16 - - - MRC2 0 genome.wustl.edu 37 17 60768012 60768012 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 60768012 60768012 C T SNP MRC2 ENST00000303375 human ensembl 69_37n +1 known missense c.3902 p.A1301V 0.297 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors MRC2 HGNC ENSG00000011028 188 0 0.00 335 64 16.00 - - - MRGPRX1 0 genome.wustl.edu 37 11 18955771 18955772 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 18955771 18955772 - A INS MRGPRX1 ENST00000302797 human ensembl 69_37n -1 known frame_shift_ins c.561_560 p.L187fs 0.323:0.237 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 868 0 0.00 664 171 20.48 - - - MRGPRX1 0 genome.wustl.edu 37 11 18956058 18956058 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 18956058 18956058 G - DEL MRGPRX1 ENST00000302797 human ensembl 69_37n -1 known frame_shift_del c.274 p.H92fs 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 255 0 0.00 195 47 19.18 - - - MRI1 0 genome.wustl.edu 37 19 13876943 13876943 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 13876943 13876943 G T SNP MRI1 ENST00000040663 human ensembl 69_37n +1 known missense c.547 p.G183C 0.997 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 38 0 0.00 20 12 37.50 - - - MRPL46 0 genome.wustl.edu 37 15 89002773 89002773 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 89002773 89002773 G A SNP MRPL46 ENST00000559538 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors MRPL46 Clone_based_vega_gene ENSG00000259494 102 0 0.00 77 41 34.75 - - - MRPL55 0 genome.wustl.edu 37 1 228295542 228295542 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 228295542 228295542 T C SNP MRPL55 ENST00000366731 human ensembl 69_37n -1 known missense c.163 p.T55A 0.002 pfam_Ribosomal_L55_mit pfam_Ribosomal_L55_mit - no_errors MRPL55 HGNC ENSG00000162910 32 0 0.00 72 9 10.84 - - - MRPS2 0 genome.wustl.edu 37 9 138395417 138395417 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 138395417 138395417 G A SNP MRPS2 ENST00000241600 human ensembl 69_37n +1 known missense c.329 p.R110H 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 70 0 0.00 47 38 44.71 - - - MRPS31P3 0 genome.wustl.edu 37 13 52763962 52763962 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 52763962 52763962 T C SNP MRPS31P3 ENST00000416599 human ensembl 69_37n -1 known rna NULL NULL 0.008 - - - no_errors RP11-64P12.8 Clone_based_vega_gene ENSG00000217576 162 0 0.00 82 54 39.42 - - - MRPS31P3 0 genome.wustl.edu 37 13 52764065 52764065 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 52764065 52764065 A - DEL MRPS31P3 ENST00000416599 human ensembl 69_37n -1 known rna NULL NULL 0.041 - - - no_errors RP11-64P12.8 Clone_based_vega_gene ENSG00000217576 39 0 0.00 26 12 31.58 - - - MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 69_37n +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 236 0 0.00 188 109 36.45 - - - MST1P9 0 genome.wustl.edu 37 1 17085849 17085849 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 17085849 17085849 C T SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known silent c.972 p.A324 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 36 0 0.00 62 12 16.00 - - - MSX1 0 genome.wustl.edu 37 4 4864437 4864437 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 4864437 4864437 G A SNP MSX1 ENST00000382723 human ensembl 69_37n +1 known missense c.479 p.S160N 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 9 0 0.00 6 4 36.36 - - - MT1DP 0 genome.wustl.edu 37 16 56678051 56678051 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 56678051 56678051 C T SNP MT1DP ENST00000463480 human ensembl 69_37n +1 known rna NULL NULL 0.993 - - - no_errors MT1DP HGNC ENSG00000205361 147 0 0.00 78 35 30.97 - - - MTMR11 0 genome.wustl.edu 37 1 149907310 149907310 + RNA SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 149907310 149907310 G T SNP MTMR11 ENST00000479272 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 137 0 0.00 213 62 22.55 - - - MTMR14 0 genome.wustl.edu 37 3 9714435 9714435 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 9714435 9714435 G A SNP MTMR14 ENST00000296003 human ensembl 69_37n +1 known silent c.744 p.P248 0.416 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 240 0 0.00 191 90 32.03 - - - MTMR4 0 genome.wustl.edu 37 17 56572389 56572389 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 56572389 56572389 C T SNP MTMR4 ENST00000323456 human ensembl 69_37n -1 known silent c.3114 p.Q1038 0.998 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC ENSG00000108389 361 0 0.00 703 144 16.96 - - - MTMR8 0 genome.wustl.edu 37 X 63579391 63579391 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 63579391 63579391 A G SNP MTMR8 ENST00000374852 human ensembl 69_37n -1 known missense c.41 p.L14S 0.977 NULL pfam_Myotub-related,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 345 2 0.58 217 142 39.55 - - - MTSS1 0 genome.wustl.edu 37 8 125570148 125570149 + RNA INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 125570148 125570149 - A INS MTSS1 ENST00000520094 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.003 - - - no_errors MTSS1 HGNC ENSG00000170873 58 0 0.00 34 18 34.62 - - - MUC16 0 genome.wustl.edu 37 19 9007831 9007831 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 9007831 9007831 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.39393 p.R13131 0.000 smart_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 693 1 0.14 172 518 74.96 - - - MUC16 0 genome.wustl.edu 37 19 9074412 9074412 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 9074412 9074412 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.13034 p.A4345V 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 456 0 0.00 352 169 32.31 - - - MUC16 0 genome.wustl.edu 37 19 9076843 9076843 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 9076843 9076843 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.10603 p.T3535A 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 610 1 0.16 376 229 37.54 - - - MUC2 0 genome.wustl.edu 37 11 1084831 1084831 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 1084831 1084831 T C SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.2626 p.Y876H 0.955 pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 230 2 0.86 123 96 43.64 - - - MUC4 0 genome.wustl.edu 37 3 195512843 195512843 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 195512843 195512843 C T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.5608 p.A1870T 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 1504 2 0.13 922 197 17.43 - - - MUC5B 0 genome.wustl.edu 37 11 1264985 1264985 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 1264985 1264985 G A SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.6884 p.R2295H 0.000 NULL 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 628 2 0.32 464 145 23.73 - - - MXRA5 0 genome.wustl.edu 37 X 3228563 3228563 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 3228563 3228563 T C SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.7681 p.S2561G 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 75 0 0.00 69 21 23.33 - - - MYBPC2 0 genome.wustl.edu 37 19 50938423 50938423 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 50938423 50938423 A - DEL MYBPC2 ENST00000357701 human ensembl 69_37n +1 known frame_shift_del c.25 p.K10fs 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 22 0 0.00 15 9 37.50 - - - MYH1 0 genome.wustl.edu 37 17 10397961 10397961 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 10397961 10397961 A G SNP MYH1 ENST00000226207 human ensembl 69_37n -1 known silent c.5496 p.S1832 0.373 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 608 1 0.16 449 180 28.57 - - - MYH14 0 genome.wustl.edu 37 19 50785040 50785040 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 50785040 50785040 C A SNP MYH14 ENST00000262269 human ensembl 69_37n +1 known missense c.4480 p.L1494M 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 8 0 0.00 5 4 44.44 - - - MYH2 0 genome.wustl.edu 37 17 10442670 10442670 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 10442670 10442670 A G SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known missense c.1268 p.V423A 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 350 1 0.28 227 144 38.71 - - - MYH3 0 genome.wustl.edu 37 17 10542777 10542777 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 10542777 10542777 A G SNP MYH3 ENST00000226209 human ensembl 69_37n -1 known silent c.2940 p.T980 0.444 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH3 HGNC ENSG00000109063 297 0 0.00 179 104 36.75 - - - MYH3 0 genome.wustl.edu 37 17 10549319 10549319 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 10549319 10549319 T C SNP MYH3 ENST00000226209 human ensembl 69_37n -1 known missense c.929 p.D310G 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH3 HGNC ENSG00000109063 345 0 0.00 238 117 32.77 - - - MYH9 0 genome.wustl.edu 37 22 36680450 36680450 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 36680450 36680450 T G SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known missense c.5591 p.Q1864P 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 186 0 0.00 103 70 40.46 - - - MYH9 0 genome.wustl.edu 37 22 36698708 36698708 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 36698708 36698708 C A SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known missense c.2405 p.R802L 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 93 0 0.00 54 43 44.33 - - - MYLK 0 genome.wustl.edu 37 3 123376171 123376171 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 123376171 123376171 G A SNP MYLK ENST00000360304 human ensembl 69_37n -1 known nonsense c.4090 p.Q1364* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 244 0 0.00 167 119 41.61 - - - MYLK 0 genome.wustl.edu 37 3 123401149 123401149 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 123401149 123401149 C T SNP MYLK ENST00000360304 human ensembl 69_37n -1 known missense c.3574 p.A1192T 0.001 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 239 0 0.00 148 75 33.63 - - - MYO10 0 genome.wustl.edu 37 5 16694613 16694614 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 16694613 16694614 - T INS MYO10 ENST00000513610 human ensembl 69_37n -1 known frame_shift_ins c.3667_3666 p.G1222fs 1.000:0.662 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 150 0 0.00 135 41 23.30 - - - MYO16 0 genome.wustl.edu 37 13 109459037 109459037 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 109459037 109459037 C T SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known missense c.686 p.A229V 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 255 0 0.00 178 87 32.83 - - - MYO16 0 genome.wustl.edu 37 13 109707900 109707900 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 109707900 109707900 T C SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known missense c.3226 p.Y1076H 0.027 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 276 0 0.00 175 118 40.14 - - - MYO16 0 genome.wustl.edu 37 13 109779750 109779750 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 109779750 109779750 G A SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known silent c.3837 p.S1279 0.058 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 110 0 0.00 56 27 32.53 - - - MYO18A 0 genome.wustl.edu 37 17 27414017 27414017 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 27414017 27414017 G A SNP MYO18A ENST00000354329 human ensembl 69_37n -1 known silent c.5649 p.T1883 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 100 0 0.00 152 25 14.12 - - - MYO18A 0 genome.wustl.edu 37 17 27493811 27493811 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 27493811 27493811 G A SNP MYO18A ENST00000354329 human ensembl 69_37n -1 known missense c.148 p.R50C 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 211 0 0.00 376 88 18.88 - - - MYO18B 0 genome.wustl.edu 37 22 26164407 26164407 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 26164407 26164407 C - DEL MYO18B ENST00000335473 human ensembl 69_37n +1 known frame_shift_del c.524 p.P177fs 0.000 superfamily_Ribosomal_zn-bd_dom pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 46 0 0.00 41 13 24.07 - - - MYO1A 0 genome.wustl.edu 37 12 57432356 57432356 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 57432356 57432356 C T SNP MYO1A ENST00000300119 human ensembl 69_37n -1 known missense c.1600 p.A534T 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC ENSG00000166866 93 0 0.00 65 46 41.44 - - - MYO1B 0 genome.wustl.edu 37 2 192252145 192252145 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 192252145 192252145 A G SNP MYO1B ENST00000304164 human ensembl 69_37n +1 known missense c.1750 p.N584D 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 136 0 0.00 118 33 21.85 - - - MYO1H 0 genome.wustl.edu 37 12 109882288 109882288 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 109882288 109882288 G A SNP MYO1H ENST00000431443 human ensembl 69_37n +1 known missense c.2929 p.V977I 0.942 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 492 1 0.20 325 194 37.31 - - - MYO9A 0 genome.wustl.edu 37 15 72197349 72197349 + Splice_Site SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 72197349 72197349 T C SNP MYO9A ENST00000424560 human ensembl 69_37n -1 known splice_site c.2686-2 e19-2 1.000 - - - no_errors MYO9A HGNC ENSG00000066933 352 0 0.00 239 145 37.76 - - - MYO9B 0 genome.wustl.edu 37 19 17305621 17305621 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 17305621 17305621 C T SNP MYO9B ENST00000397274 human ensembl 69_37n +1 known missense c.3385 p.P1129S 0.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 84 0 0.00 63 29 31.52 - - - MYO9B 0 genome.wustl.edu 37 19 17309065 17309065 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 17309065 17309065 G A SNP MYO9B ENST00000397274 human ensembl 69_37n +1 known missense c.4186 p.A1396T 0.001 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 138 1 0.72 98 54 35.06 - - - MYSM1 0 genome.wustl.edu 37 1 59156023 59156023 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 59156023 59156023 T - DEL MYSM1 ENST00000472487 human ensembl 69_37n -1 known frame_shift_del c.285 p.K95fs 0.822 NULL pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 251 0 0.00 198 103 33.99 - - - NAA16 0 genome.wustl.edu 37 13 41885599 41885599 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 41885599 41885599 C T SNP NAA16 ENST00000476980 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors NAA16 HGNC ENSG00000172766 10 0 0.00 12 5 29.41 - - - NAA25 0 genome.wustl.edu 37 12 112485490 112485490 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 112485490 112485490 A - DEL NAA25 ENST00000261745 human ensembl 69_37n -1 known frame_shift_del c.1985 p.F662fs 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 441 0 0.00 233 153 39.23 - - - NADSYN1 0 genome.wustl.edu 37 11 71185449 71185449 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 71185449 71185449 G A SNP NADSYN1 ENST00000525200 human ensembl 69_37n +1 known missense c.575 p.G192E 0.863 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NADSYN1 HGNC ENSG00000172890 168 0 0.00 107 74 40.88 - - - NARS 0 genome.wustl.edu 37 18 55287867 55287867 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 55287867 55287867 A G SNP NARS ENST00000256854 human ensembl 69_37n -1 known silent c.27 p.S9 0.021 NULL 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_Asn-tRNA-synth_IIb - no_errors NARS HGNC ENSG00000134440 411 0 0.00 272 160 37.04 - - - NCAN 0 genome.wustl.edu 37 19 19360666 19360666 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 19360666 19360666 A G SNP NCAN ENST00000588231 human ensembl 69_37n +1 novel missense c.473 p.N158S 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NCAN HGNC ENSG00000130287 1175 1 0.08 743 422 36.10 - - - NCKAP1L 0 genome.wustl.edu 37 12 54910761 54910761 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 54910761 54910761 A G SNP NCKAP1L ENST00000293373 human ensembl 69_37n +1 known silent c.1080 p.G360 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 409 1 0.24 271 193 41.33 - - - NCOA7 0 genome.wustl.edu 37 6 126243864 126243864 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 126243864 126243864 C A SNP NCOA7 ENST00000368357 human ensembl 69_37n +1 known missense c.2407 p.P803T 1.000 smart_TLDc pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 220 0 0.00 161 92 36.36 - - - NDUFS2 0 genome.wustl.edu 37 1 161182212 161182212 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 161182212 161182212 C A SNP NDUFS2 ENST00000367993 human ensembl 69_37n +1 known missense c.1058 p.P353H 0.859 pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD - no_errors NDUFS2 HGNC ENSG00000158864 248 0 0.00 473 96 16.87 - - - NDUFS2 0 genome.wustl.edu 37 1 161183875 161183875 + RNA DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 161183875 161183875 T - DEL NDUFS2 ENST00000465923 human ensembl 69_37n +1 known rna NULL NULL 0.012 - - - no_errors NDUFS2 HGNC ENSG00000158864 264 0 0.00 460 76 14.05 - - - NEK9 0 genome.wustl.edu 37 14 75580950 75580950 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 75580950 75580950 A G SNP NEK9 ENST00000238616 human ensembl 69_37n -1 known missense c.829 p.Y277H 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 352 0 0.00 232 154 39.90 - - - NET1 0 genome.wustl.edu 37 10 5495005 5495005 + RNA DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 5495005 5495005 T - DEL NET1 ENST00000465087 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NET1 HGNC ENSG00000173848 33 0 0.00 19 10 34.48 - - - NEURL2 0 genome.wustl.edu 37 20 44518963 44518963 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 44518963 44518963 G A SNP NEURL2 ENST00000372518 human ensembl 69_37n -1 known missense c.668 p.A223V 0.720 pfscan_Neu_Z pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 31 0 0.00 12 11 47.83 - - - NF1 0 genome.wustl.edu 37 17 29592336 29592336 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 29592336 29592336 T - DEL NF1 ENST00000358273 human ensembl 69_37n +1 known frame_shift_del c.4814 p.Y1607fs 1.000 superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 134 0 0.00 48 56 53.85 - - - NFASC 0 genome.wustl.edu 37 1 204957854 204957854 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 204957854 204957854 A G SNP NFASC ENST00000367172 human ensembl 69_37n +1 known missense c.3008 p.Y1003C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 90 0 0.00 144 36 19.46 - - - NFASC 0 genome.wustl.edu 37 1 204966377 204966377 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 204966377 204966377 C A SNP NFASC ENST00000367172 human ensembl 69_37n +1 known silent c.3183 p.T1061 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 614 0 0.00 953 207 17.84 - - - NGLY1 0 genome.wustl.edu 37 3 25761040 25761040 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 25761040 25761040 C T SNP NGLY1 ENST00000280700 human ensembl 69_37n -1 known missense c.1876 p.A626T 1.000 superfamily_Galactose-bd-like pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom - no_errors NGLY1 HGNC ENSG00000151092 327 0 0.00 207 116 35.91 - - - NHLRC2 0 genome.wustl.edu 37 10 115614726 115614728 + In_Frame_Del DEL AGG AGG - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 115614726 115614728 AGG - DEL NHLRC2 ENST00000369301 human ensembl 69_37n +1 known in_frame_del c.95_97 p.E33in_frame_del 1.000:1.000:1.000 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 85 0 0.00 72 28 28.00 - - - NHSL2 0 genome.wustl.edu 37 X 71359752 71359752 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 71359752 71359752 G T SNP NHSL2 ENST00000540800 human ensembl 69_37n +1 known missense c.2354 p.G785V 1.000 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 415 0 0.00 306 129 29.59 - - - NID1 0 genome.wustl.edu 37 1 236148736 236148736 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 236148736 236148736 G A SNP NID1 ENST00000264187 human ensembl 69_37n -1 known missense c.2998 p.P1000S 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 330 0 0.00 659 111 14.36 - - - NID1 0 genome.wustl.edu 37 1 236157147 236157147 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 236157147 236157147 G A SNP NID1 ENST00000264187 human ensembl 69_37n -1 known silent c.2553 p.H851 0.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 34 0 0.00 54 9 14.29 - - - NINJ1 0 genome.wustl.edu 37 9 95888858 95888858 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 95888858 95888858 G A SNP NINJ1 ENST00000375446 human ensembl 69_37n -1 known silent c.138 p.S46 0.936 pfam_Ninjurin pfam_Ninjurin - no_errors NINJ1 HGNC ENSG00000131669 79 0 0.00 54 24 30.77 - - - NIPBL 0 genome.wustl.edu 37 5 36976367 36976367 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 36976367 36976367 T C SNP NIPBL ENST00000282516 human ensembl 69_37n +1 known missense c.1358 p.V453A 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 186 0 0.00 146 99 40.24 - - - NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 69_37n +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 156 1 0.64 140 61 29.76 - - - NIT2 0 genome.wustl.edu 37 3 100057981 100057981 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 100057981 100057981 A G SNP NIT2 ENST00000394140 human ensembl 69_37n +1 known missense c.58 p.N20D 0.997 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT2 HGNC ENSG00000114021 334 0 0.00 254 136 34.87 - - - NKX2-5 0 genome.wustl.edu 37 5 172659767 172659767 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 172659767 172659767 G A SNP NKX2-5 ENST00000329198 human ensembl 69_37n -1 known silent c.780 p.G260 0.001 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors NKX2-5 HGNC ENSG00000183072 15 0 0.00 9 5 35.71 - - - NLGN3 0 genome.wustl.edu 37 X 70375090 70375090 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 70375090 70375090 G A SNP NLGN3 ENST00000358741 human ensembl 69_37n +1 known missense c.604 p.V202I 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 269 2 0.74 167 107 39.05 - - - NLRP11 0 genome.wustl.edu 37 19 56320345 56320345 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 56320345 56320345 G T SNP NLRP11 ENST00000443188 human ensembl 69_37n -1 known missense c.1631 p.P544H 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 233 0 0.00 120 73 37.63 - - - NMT1 0 genome.wustl.edu 37 17 43175768 43175768 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 43175768 43175768 G T SNP NMT1 ENST00000258960 human ensembl 69_37n +1 known missense c.732 p.E244D 1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 198 0 0.00 43 59 57.84 - - - NOP14-AS1 0 genome.wustl.edu 37 4 2952780 2952780 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 2952780 2952780 A - DEL NOP14-AS1 ENST00000515194 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NOP14-AS1 HGNC ENSG00000249673 61 0 0.00 36 23 37.70 - - - NOTCH1 0 genome.wustl.edu 37 9 139393655 139393655 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 139393655 139393655 C T SNP NOTCH1 ENST00000277541 human ensembl 69_37n -1 known silent c.5991 p.T1997 0.006 pirsf_Notch,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 121 0 0.00 61 40 38.83 - - - NOTCH3 0 genome.wustl.edu 37 19 15272336 15272337 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 15272336 15272337 - G INS NOTCH3 ENST00000263388 human ensembl 69_37n -1 known frame_shift_ins c.6103_6102 p.G2034fs 0.958:0.235 pirsf_Notch pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 32 0 0.00 18 17 48.57 - - - NOVA2 0 genome.wustl.edu 37 19 46464289 46464289 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 46464289 46464289 T C SNP NOVA2 ENST00000263257 human ensembl 69_37n -1 known missense c.208 p.K70E 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA2 HGNC ENSG00000104967 163 0 0.00 110 49 30.63 - - - NPAS2 0 genome.wustl.edu 37 2 101594239 101594239 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 101594239 101594239 G A SNP NPAS2 ENST00000542504 human ensembl 69_37n +1 known missense c.1655 p.S552N 0.462 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,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 NPAS2 HGNC ENSG00000170485 186 0 0.00 124 67 35.08 - - - NPHP1 0 genome.wustl.edu 37 2 110902119 110902119 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 110902119 110902119 A G SNP NPHP1 ENST00000316534 human ensembl 69_37n -1 known silent c.1548 p.G516 0.985 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 188 0 0.00 178 86 32.58 - - - NPL 0 genome.wustl.edu 37 1 182791267 182791268 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 182791267 182791268 - A INS NPL ENST00000258317 human ensembl 69_37n +1 known frame_shift_ins c.671_672 p.T227fs 1.000:0.993 pfam_Dihydrodipicolinate_synth-like pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like - no_errors NPL HGNC ENSG00000135838 403 0 0.00 897 146 14.00 - - - NR5A2 0 genome.wustl.edu 37 1 200014658 200014658 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 200014658 200014658 C T SNP NR5A2 ENST00000367362 human ensembl 69_37n +1 known missense c.409 p.R137C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 280 0 0.00 508 73 12.56 - - - NR5A2 0 genome.wustl.edu 37 1 200143178 200143178 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 200143178 200143178 A G SNP NR5A2 ENST00000367362 human ensembl 69_37n +1 known missense c.1466 p.Y489C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 75 0 0.00 168 34 16.75 - - - NRBP1 0 genome.wustl.edu 37 2 27658018 27658018 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 27658018 27658018 C - DEL NRBP1 ENST00000233557 human ensembl 69_37n +1 known frame_shift_del c.585 p.I198fs 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 NRBP1 HGNC ENSG00000115216 333 0 0.00 249 128 33.42 - - - NRP2 0 genome.wustl.edu 37 2 206608157 206608157 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 206608157 206608157 G A SNP NRP2 ENST00000360409 human ensembl 69_37n +1 known missense c.1522 p.G508R 0.999 pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 134 0 0.00 75 56 42.75 - - - NRXN2 0 genome.wustl.edu 37 11 64390403 64390403 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 64390403 64390403 C T SNP NRXN2 ENST00000265459 human ensembl 69_37n -1 known missense c.3995 p.R1332Q 1.000 pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 67 0 0.00 41 24 36.92 - - - NRXN3 0 genome.wustl.edu 37 14 79433691 79433691 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 79433691 79433691 C T SNP NRXN3 ENST00000554738 human ensembl 69_37n +1 known missense c.2885 p.T962I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 178 0 0.00 142 74 34.26 - - - NSG1 0 genome.wustl.edu 37 4 4389431 4389431 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 4389431 4389431 T C SNP NSG1 ENST00000397958 human ensembl 69_37n +1 known silent c.75 p.I25 1.000 pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact - no_errors NSG1 Clone_based_vega_gene ENSG00000168824 56 0 0.00 53 23 30.26 - - - NSUN7 0 genome.wustl.edu 37 4 40778217 40778217 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 40778217 40778217 T C SNP NSUN7 ENST00000381782 human ensembl 69_37n +1 known missense c.977 p.V326A 0.962 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 166 0 0.00 107 72 40.00 - - - NTMT1 0 genome.wustl.edu 37 9 132395277 132395277 + RNA SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 132395277 132395277 C A SNP NTMT1 ENST00000459968 human ensembl 69_37n +1 known rna NULL NULL 0.017 - - - no_errors NTMT1 HGNC ENSG00000148335 68 0 0.00 24 15 38.46 - - - NTN3 0 genome.wustl.edu 37 16 2522741 2522741 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 2522741 2522741 A T SNP NTN3 ENST00000293973 human ensembl 69_37n +1 known missense c.968 p.N323I 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN3 HGNC ENSG00000162068 18 0 0.00 9 4 30.77 - - - NUDCD1 0 genome.wustl.edu 37 8 110346160 110346163 + Frame_Shift_Del DEL AGAG AGAG - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 110346160 110346163 AGAG - DEL NUDCD1 ENST00000239690 human ensembl 69_37n -1 known frame_shift_del c.80_77 p.S26fs 1.000:1.000:1.000:1.000 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDCD1 HGNC ENSG00000120526 72 0 0.00 76 25 24.75 - - - NUDT13 0 genome.wustl.edu 37 10 74886455 74886455 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 74886455 74886455 G A SNP NUDT13 ENST00000357321 human ensembl 69_37n +1 known missense c.728 p.R243H 0.273 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT13 HGNC ENSG00000166321 282 0 0.00 221 89 28.71 - - - NUP155 0 genome.wustl.edu 37 5 37333695 37333695 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 37333695 37333695 G A SNP NUP155 ENST00000231498 human ensembl 69_37n -1 known missense c.1388 p.A463V 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 170 1 0.58 138 63 31.34 - - - NUP188 0 genome.wustl.edu 37 9 131752485 131752485 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 131752485 131752485 C T SNP NUP188 ENST00000372577 human ensembl 69_37n +1 known silent c.2620 p.L874 1.000 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 308 0 0.00 248 97 28.03 - - - NUP54 0 genome.wustl.edu 37 4 77053844 77053844 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 77053844 77053844 G A SNP NUP54 ENST00000264883 human ensembl 69_37n -1 known missense c.739 p.R247C 1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 287 1 0.35 202 157 43.73 - - - NUP62 0 genome.wustl.edu 37 19 50412810 50412811 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 50412810 50412811 - C INS NUP62 ENST00000352066 human ensembl 69_37n -1 known frame_shift_ins c.255_254 p.T86fs 0.002:0.030 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 278 0 0.00 199 78 28.16 - - - NVL 0 genome.wustl.edu 37 1 224517828 224517828 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 224517828 224517828 A G SNP NVL ENST00000281701 human ensembl 69_37n -1 known missense c.2 p.M1T 0.997 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,smart_AAA+_ATPase - no_errors NVL HGNC ENSG00000143748 91 0 0.00 183 30 13.95 - - - O3FAR1 0 genome.wustl.edu 37 10 95347289 95347289 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 95347289 95347289 T C SNP O3FAR1 ENST00000371483 human ensembl 69_37n +1 known missense c.1057 p.F353L 0.928 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors O3FAR1 HGNC ENSG00000186188 297 0 0.00 147 92 38.02 - - - OBSCN 0 genome.wustl.edu 37 1 228475592 228475592 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 228475592 228475592 C T SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.9742 p.P3248S 0.057 pfam_Ig_I-set,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 114 1 0.87 189 38 16.74 - - - ODZ2 0 genome.wustl.edu 37 5 167622300 167622300 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 167622300 167622300 C T SNP ODZ2 ENST00000518659 human ensembl 69_37n +1 known missense c.2900 p.T967M 1.000 superfamily_CarboxyPept-like_regulatory,superfamily_ConA-like_lec_gl pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ2 HGNC ENSG00000145934 233 0 0.00 135 93 40.79 - - - ODZ4 0 genome.wustl.edu 37 11 78440505 78440505 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 78440505 78440505 C T SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known missense c.3322 p.A1108T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 156 0 0.00 110 82 42.49 - - - OGFOD1 0 genome.wustl.edu 37 16 56487178 56487178 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 56487178 56487178 T C SNP OGFOD1 ENST00000566157 human ensembl 69_37n +1 known missense c.158 p.V53A 1.000 smart_Pro_4_hyd_alph pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 201 0 0.00 164 79 32.51 - - - OLFML2B 0 genome.wustl.edu 37 1 161967735 161967735 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 161967735 161967735 C T SNP OLFML2B ENST00000294794 human ensembl 69_37n -1 known missense c.1354 p.V452M 0.000 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 197 1 0.51 368 65 15.01 - - - OPN1SW 0 genome.wustl.edu 37 7 128414670 128414670 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 128414670 128414670 G T SNP OPN1SW ENST00000249389 human ensembl 69_37n -1 known missense c.569 p.T190N 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_blue pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_blue,prints_7TM_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 220 0 0.00 191 83 30.29 - - - OPRD1 0 genome.wustl.edu 37 1 29189472 29189472 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 29189472 29189472 G A SNP OPRD1 ENST00000234961 human ensembl 69_37n +1 known missense c.796 p.V266I 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 63 0 0.00 36 26 41.94 - - - OPRL1 0 genome.wustl.edu 37 20 62729364 62729364 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 62729364 62729364 G A SNP OPRL1 ENST00000336866 human ensembl 69_37n +1 known missense c.443 p.R148H 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_X_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors OPRL1 HGNC ENSG00000125510 233 1 0.43 135 74 35.41 - - - OR10X1 0 genome.wustl.edu 37 1 158548962 158548962 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 158548962 158548962 C A SNP OR10X1 ENST00000368150 human ensembl 69_37n -1 known missense c.728 p.R243M 0.138 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 194 1 0.51 426 99 18.79 - - - OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 248512384 248512384 T - DEL OR14C36 ENST00000317861 human ensembl 69_37n +1 known frame_shift_del c.308 p.F105fs 0.004 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR14C36 HGNC ENSG00000177174 164 0 0.00 329 63 15.87 - - - OR2A1 0 genome.wustl.edu 37 7 144015332 144015332 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 144015332 144015332 C T SNP OR2A1 ENST00000408951 human ensembl 69_37n +1 known silent c.115 p.L39 0.009 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2A1 HGNC ENSG00000221970 72 0 0.00 62 19 23.46 - - - OR2F1 0 genome.wustl.edu 37 7 143657730 143657730 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 143657730 143657730 T C SNP OR2F1 ENST00000392899 human ensembl 69_37n +1 known missense c.667 p.S223P 0.575 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 739 1 0.13 521 263 33.46 - - - OR2L13 0 genome.wustl.edu 37 1 248263281 248263281 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 248263281 248263281 A G SNP OR2L13 ENST00000358120 human ensembl 69_37n +1 known missense c.604 p.T202A 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2L13 HGNC ENSG00000196071 639 0 0.00 1130 241 17.46 - - - OR2T1 0 genome.wustl.edu 37 1 248569431 248569431 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 248569431 248569431 G A SNP OR2T1 ENST00000366474 human ensembl 69_37n +1 known missense c.136 p.G46S 0.001 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 268 0 0.00 479 94 16.40 - - - OR4A15 0 genome.wustl.edu 37 11 55135957 55135957 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 55135957 55135957 A G SNP OR4A15 ENST00000314706 human ensembl 69_37n +1 known missense c.598 p.N200D 0.010 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4A15 HGNC ENSG00000181958 481 0 0.00 320 200 38.31 - - - OR51B5 0 genome.wustl.edu 37 11 5363900 5363900 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 5363900 5363900 C T SNP OR51B5 ENST00000300773 human ensembl 69_37n -1 known missense c.855 p.M285I 0.991 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51B5 HGNC ENSG00000242180 204 0 0.00 144 69 32.39 - - - OR52J3 0 genome.wustl.edu 37 11 5068682 5068683 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 5068682 5068683 - A INS OR52J3 ENST00000380370 human ensembl 69_37n +1 known frame_shift_ins c.927_928 p.*311fs 0.000:0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR52J3 HGNC ENSG00000205495 50 0 0.00 47 14 22.95 - - - OR52N2 0 genome.wustl.edu 37 11 5842325 5842325 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 5842325 5842325 T C SNP OR52N2 ENST00000317037 human ensembl 69_37n +1 known missense c.760 p.Y254H 0.285 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52N2 HGNC ENSG00000180988 529 1 0.19 324 207 38.91 - - - OR5M11 0 genome.wustl.edu 37 11 56310647 56310647 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 56310647 56310647 C T SNP OR5M11 ENST00000528616 human ensembl 69_37n -1 known silent c.87 p.V29 0.062 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 184 1 0.54 147 72 32.88 - - - OR5P3 0 genome.wustl.edu 37 11 7846708 7846708 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 7846708 7846708 T C SNP OR5P3 ENST00000328375 human ensembl 69_37n -1 known missense c.812 p.N271S 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 339 0 0.00 220 129 36.86 - - - OR6C75 0 genome.wustl.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 55759486 55759486 T - DEL OR6C75 ENST00000343399 human ensembl 69_37n +1 known frame_shift_del c.592 p.L200fs 0.582 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 329 2 0.60 287 137 31.79 - - - OR6C76 0 genome.wustl.edu 37 12 55820818 55820818 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 55820818 55820818 G A SNP OR6C76 ENST00000328314 human ensembl 69_37n +1 known missense c.781 p.A261T 0.989 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6C76 HGNC ENSG00000185821 242 0 0.00 165 80 32.52 - - - OR6K2 0 genome.wustl.edu 37 1 158670002 158670002 + Nonsense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 158670002 158670002 G T SNP OR6K2 ENST00000359610 human ensembl 69_37n -1 known nonsense c.441 p.C147* 0.998 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6K2 HGNC ENSG00000196171 237 0 0.00 470 102 17.83 - - - OR6K3 0 genome.wustl.edu 37 1 158687481 158687481 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 158687481 158687481 G A SNP OR6K3 ENST00000368146 human ensembl 69_37n -1 known missense c.473 p.A158V 0.303 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 223 0 0.00 386 88 18.57 - - - OR7A17 0 genome.wustl.edu 37 19 14991326 14991326 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 14991326 14991326 G A SNP OR7A17 ENST00000327462 human ensembl 69_37n -1 known missense c.842 p.A281V 0.996 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 359 0 0.00 80 245 75.15 - - - OR7D2 0 genome.wustl.edu 37 19 9297382 9297382 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 9297382 9297382 G A SNP OR7D2 ENST00000344248 human ensembl 69_37n +1 known missense c.925 p.A309T 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR7D2 HGNC ENSG00000188000 52 0 0.00 29 16 34.78 - - - OR8H1 0 genome.wustl.edu 37 11 56057775 56057775 + Missense_Mutation SNP A A C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 56057775 56057775 A C SNP OR8H1 ENST00000313022 human ensembl 69_37n -1 known missense c.764 p.I255S 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8H1 HGNC ENSG00000181693 329 1 0.30 200 121 37.69 - - - OR8H1 0 genome.wustl.edu 37 11 56058343 56058343 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 56058343 56058343 A G SNP OR8H1 ENST00000313022 human ensembl 69_37n -1 known silent c.196 p.L66 0.046 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8H1 HGNC ENSG00000181693 675 0 0.00 440 239 35.20 - - - OR8H2 0 genome.wustl.edu 37 11 55872855 55872855 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 55872855 55872855 T C SNP OR8H2 ENST00000313503 human ensembl 69_37n +1 known missense c.337 p.Y113H 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 464 0 0.00 337 223 39.82 - - - OR8K1 0 genome.wustl.edu 37 11 56114010 56114010 + Missense_Mutation SNP A A C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 56114010 56114010 A C SNP OR8K1 ENST00000279783 human ensembl 69_37n +1 known missense c.496 p.T166P 0.007 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 433 0 0.00 288 142 33.02 - - - ORC1 0 genome.wustl.edu 37 1 52851575 52851575 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 52851575 52851575 C T SNP ORC1 ENST00000371566 human ensembl 69_37n -1 known missense c.1430 p.R477Q 1.000 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 101 0 0.00 51 46 47.42 - - - P2RY1 0 genome.wustl.edu 37 3 152554350 152554350 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 152554350 152554350 A G SNP P2RY1 ENST00000305097 human ensembl 69_37n +1 known missense c.779 p.Y260C 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY1 HGNC ENSG00000169860 214 0 0.00 149 98 39.52 - - - P4HB 0 genome.wustl.edu 37 17 79803764 79803764 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 79803764 79803764 T - DEL P4HB ENST00000331483 human ensembl 69_37n -1 known frame_shift_del c.1160 p.N387fs 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 162 0 0.00 304 55 15.24 - - - PABPC3 0 genome.wustl.edu 37 13 25670802 25670802 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 25670802 25670802 A - DEL PABPC3 ENST00000281589 human ensembl 69_37n +1 known frame_shift_del c.466 p.M158fs 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 406 0 0.00 314 169 34.63 - - - PABPN1L 0 genome.wustl.edu 37 16 88932785 88932785 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 88932785 88932785 A G SNP PABPN1L ENST00000427766 human ensembl 69_37n -1 known missense c.230 p.L77P 0.083 NULL NULL - no_errors PABPN1L HGNC ENSG00000205022 162 0 0.00 92 68 42.24 - - - PADI2 0 genome.wustl.edu 37 1 17395442 17395442 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 17395442 17395442 C T SNP PADI2 ENST00000466151 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PADI2 HGNC ENSG00000117115 17 0 0.00 12 8 40.00 - - - PAMR1 0 genome.wustl.edu 37 11 35457472 35457472 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 35457472 35457472 G A SNP PAMR1 ENST00000278360 human ensembl 69_37n -1 known missense c.1363 p.R455W 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EGF-like,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PAMR1 HGNC ENSG00000149090 117 1 0.84 81 61 42.96 - - - PAPPA2 0 genome.wustl.edu 37 1 176659424 176659424 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 176659424 176659424 A G SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known silent c.2289 p.P763 0.907 pfam_Peptidase_M43 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 101 0 0.00 177 35 16.51 - - - PAQR3 0 genome.wustl.edu 37 4 79847790 79847790 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 79847790 79847790 G A SNP PAQR3 ENST00000511594 human ensembl 69_37n -1 known missense c.587 p.T196M 0.999 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR3 HGNC ENSG00000163291 238 0 0.00 168 86 33.86 - - - PAQR3 0 genome.wustl.edu 37 4 79860369 79860369 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 79860369 79860369 T C SNP PAQR3 ENST00000511594 human ensembl 69_37n -1 known missense c.10 p.K4E 1.000 NULL pfam_HlyIII-related - no_errors PAQR3 HGNC ENSG00000163291 41 0 0.00 40 13 24.53 - - - PARP1 0 genome.wustl.edu 37 1 226573298 226573298 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 226573298 226573298 G A SNP PARP1 ENST00000366794 human ensembl 69_37n -1 known silent c.918 p.S306 0.187 pfam_PADR1,pirsf_NAD_ADPRT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 159 0 0.00 286 61 17.53 - - - PASK 0 genome.wustl.edu 37 2 242082328 242082328 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 242082328 242082328 C T SNP PASK ENST00000358649 human ensembl 69_37n -1 known silent c.120 p.S40 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 152 0 0.00 105 56 34.78 - - - PAX7 0 genome.wustl.edu 37 1 18960957 18960957 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 18960957 18960957 C T SNP PAX7 ENST00000375375 human ensembl 69_37n +1 known silent c.246 p.C82 0.968 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,prints_Paired_dom,pfscan_Homeodomain,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 67 0 0.00 49 35 41.18 - - - PC 0 genome.wustl.edu 37 11 66619987 66619987 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 66619987 66619987 C T SNP PC ENST00000393958 human ensembl 69_37n -1 known missense c.1748 p.R583H 1.000 pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 89 0 0.00 41 25 37.88 - - - PCBP3 0 genome.wustl.edu 37 21 47361682 47361682 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 47361682 47361682 G A SNP PCBP3 ENST00000475402 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors PCBP3 HGNC ENSG00000183570 105 0 0.00 56 46 45.10 - - - PCCB 0 genome.wustl.edu 37 3 136019953 136019953 + Silent SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 136019953 136019953 T G SNP PCCB ENST00000251654 human ensembl 69_37n +1 known silent c.966 p.S322 0.026 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 404 1 0.25 246 142 36.60 - - - PCDH1 0 genome.wustl.edu 37 5 141243711 141243711 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 141243711 141243711 G - DEL PCDH1 ENST00000287008 human ensembl 69_37n -1 known frame_shift_del c.2185 p.Q729fs 0.992 superfamily_Cadherin-like pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 309 0 0.00 217 89 28.25 - - - PCDH11X 0 genome.wustl.edu 37 X 91873397 91873397 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 91873397 91873397 G A SNP PCDH11X ENST00000373094 human ensembl 69_37n +1 known missense c.3502 p.A1168T 0.001 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 468 1 0.21 317 187 36.74 - - - PCDH15 0 genome.wustl.edu 37 10 55566571 55566572 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 55566571 55566572 - T INS PCDH15 ENST00000414778 human ensembl 69_37n -1 known frame_shift_ins c.4814_4813 p.M1605fs 1.000:1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 425 0 0.00 298 141 32.12 - - - PCDH19 0 genome.wustl.edu 37 X 99662505 99662505 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 99662505 99662505 G - DEL PCDH19 ENST00000373034 human ensembl 69_37n -1 known frame_shift_del c.1091 p.P364fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 90 0 0.00 52 23 30.26 - - - PCDHA10 0 genome.wustl.edu 37 5 140236951 140236951 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 140236951 140236951 G A SNP PCDHA10 ENST00000307360 human ensembl 69_37n +1 known missense c.1318 p.V440M 0.225 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 149 0 0.00 111 65 36.93 - - - PCDHA8 0 genome.wustl.edu 37 5 140222350 140222350 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 140222350 140222350 G A SNP PCDHA8 ENST00000531613 human ensembl 69_37n +1 known missense c.1444 p.A482T 0.168 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 92 0 0.00 66 53 44.54 - - - PCDHB12 0 genome.wustl.edu 37 5 140588743 140588743 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 140588743 140588743 A G SNP PCDHB12 ENST00000239450 human ensembl 69_37n +1 known silent c.264 p.E88 0.410 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 194 0 0.00 126 74 36.82 - - - PCDHB8 0 genome.wustl.edu 37 5 140558614 140558614 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 140558614 140558614 C T SNP PCDHB8 ENST00000239444 human ensembl 69_37n +1 known silent c.999 p.T333 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 316 2 0.63 273 77 22.00 - - - PCDHGA1 0 genome.wustl.edu 37 5 140711001 140711001 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 140711001 140711001 T C SNP PCDHGA1 ENST00000517417 human ensembl 69_37n +1 known silent c.750 p.N250 0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 115 0 0.00 63 61 49.19 - - - PCDHGA3 0 genome.wustl.edu 37 5 140725634 140725634 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 140725634 140725634 C T SNP PCDHGA3 ENST00000253812 human ensembl 69_37n +1 known silent c.2034 p.L678 0.000 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 127 1 0.78 76 40 34.48 - - - PCDHGC4 0 genome.wustl.edu 37 5 140866005 140866005 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 140866005 140866005 A G SNP PCDHGC4 ENST00000306593 human ensembl 69_37n +1 known missense c.1265 p.D422G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 119 0 0.00 62 50 44.64 - - - PCDHGC5 0 genome.wustl.edu 37 5 140870733 140870733 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 140870733 140870733 G A SNP PCDHGC5 ENST00000252087 human ensembl 69_37n +1 known silent c.1926 p.Q642 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 145 0 0.00 86 54 38.57 - - - PCK2 0 genome.wustl.edu 37 14 24572012 24572012 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 24572012 24572012 C T SNP PCK2 ENST00000216780 human ensembl 69_37n +1 known missense c.1285 p.R429C 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 127 1 0.78 85 46 35.11 - - - PCMTD2 0 genome.wustl.edu 37 20 62899302 62899302 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 62899302 62899302 T - DEL PCMTD2 ENST00000308824 human ensembl 69_37n +1 known frame_shift_del c.645 p.F216fs 0.997 pfam_PCMT pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 256 0 0.00 189 115 37.58 - - - PDCD11 0 genome.wustl.edu 37 10 105181188 105181188 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 105181188 105181188 T C SNP PDCD11 ENST00000369797 human ensembl 69_37n +1 known silent c.2361 p.D787 0.982 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 174 0 0.00 122 75 37.88 - - - PDCD6 0 genome.wustl.edu 37 5 306729 306729 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 306729 306729 G - DEL PDCD6 ENST00000264933 human ensembl 69_37n +1 known frame_shift_del c.221 p.R74fs 0.997 smart_EF_hand_Ca-bd pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors PDCD6 HGNC ENSG00000249915 63 0 0.00 52 23 29.87 - - - PDE5A 0 genome.wustl.edu 37 4 120422366 120422366 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 120422366 120422366 G A SNP PDE5A ENST00000354960 human ensembl 69_37n -1 known nonsense c.2449 p.Q817* 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 479 1 0.21 296 164 35.57 - - - PDE5A 0 genome.wustl.edu 37 4 120460122 120460122 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 120460122 120460122 G A SNP PDE5A ENST00000354960 human ensembl 69_37n -1 known missense c.1625 p.S542L 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 114 0 0.00 78 44 36.07 - - - PDX1 0 genome.wustl.edu 37 13 28498618 28498618 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 28498618 28498618 G A SNP PDX1 ENST00000381033 human ensembl 69_37n +1 known missense c.632 p.G211D 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors PDX1 HGNC ENSG00000139515 63 0 0.00 41 24 36.92 - - - PDZD4 0 genome.wustl.edu 37 X 153073863 153073863 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 153073863 153073863 G A SNP PDZD4 ENST00000164640 human ensembl 69_37n -1 known missense c.248 p.A83V 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 35 0 0.00 17 13 43.33 - - - PDZD9 0 genome.wustl.edu 37 16 21995786 21995786 + Silent SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 21995786 21995786 T G SNP PDZD9 ENST00000424898 human ensembl 69_37n -1 known silent c.597 p.G199 0.767 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD9 HGNC ENSG00000155714 398 0 0.00 283 202 41.48 - - - PDZRN3 0 genome.wustl.edu 37 3 73433945 73433945 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 73433945 73433945 T C SNP PDZRN3 ENST00000263666 human ensembl 69_37n -1 known missense c.1772 p.D591G 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 131 0 0.00 68 45 39.82 - - - PEBP4 0 genome.wustl.edu 37 8 22675167 22675167 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 22675167 22675167 G A SNP PEBP4 ENST00000256404 human ensembl 69_37n -1 known silent c.340 p.L114 1.000 pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors PEBP4 HGNC ENSG00000134020 275 2 0.72 156 100 38.91 - - - PEX1 0 genome.wustl.edu 37 7 92129118 92129118 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 92129118 92129118 T C SNP PEX1 ENST00000248633 human ensembl 69_37n -1 known missense c.2618 p.Q873R 1.000 smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 246 0 0.00 177 97 35.40 - - - PFKM 0 genome.wustl.edu 37 12 48531564 48531564 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 48531564 48531564 G A SNP PFKM ENST00000312352 human ensembl 69_37n +1 known missense c.997 p.A333T 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 236 0 0.00 164 93 35.77 - - - PFKP 0 genome.wustl.edu 37 10 3174632 3174632 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 3174632 3174632 A G SNP PFKP ENST00000381125 human ensembl 69_37n +1 known missense c.1909 p.R637G 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 131 1 0.76 115 56 32.75 - - - PGA5 0 genome.wustl.edu 37 11 61017472 61017472 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 61017472 61017472 G A SNP PGA5 ENST00000312403 human ensembl 69_37n +1 known missense c.1003 p.A335T 0.964 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors PGA5 HGNC ENSG00000256713 202 0 0.00 118 92 43.19 - - - PGS1 0 genome.wustl.edu 37 17 76388701 76388701 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 76388701 76388701 C T SNP PGS1 ENST00000588169 human ensembl 69_37n +1 known missense c.250 p.R84C 0.067 NULL NULL - no_errors PGS1 HGNC ENSG00000087157 134 0 0.00 294 62 17.42 - - - PHF14 0 genome.wustl.edu 37 7 11022504 11022504 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 11022504 11022504 T C SNP PHF14 ENST00000403050 human ensembl 69_37n +1 known silent c.618 p.Y206 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 411 0 0.00 250 165 39.76 - - - PHF14 0 genome.wustl.edu 37 7 11075296 11075296 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 11075296 11075296 T C SNP PHF14 ENST00000403050 human ensembl 69_37n +1 known silent c.1485 p.C495 1.000 smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 264 0 0.00 207 148 41.69 - - - PHIP 0 genome.wustl.edu 37 6 79698060 79698060 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 79698060 79698060 C T SNP PHIP ENST00000275034 human ensembl 69_37n -1 known missense c.2326 p.A776T 0.996 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 254 0 0.00 198 122 38.01 - - - PHKB 0 genome.wustl.edu 37 16 47682455 47682455 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 47682455 47682455 G A SNP PHKB ENST00000299167 human ensembl 69_37n +1 known silent c.1620 p.Q540 0.989 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 261 0 0.00 195 101 34.12 - - - PHLDB2 0 genome.wustl.edu 37 3 111681100 111681100 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 111681100 111681100 C T SNP PHLDB2 ENST00000393925 human ensembl 69_37n +1 known silent c.3018 p.L1006 0.249 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 220 0 0.00 168 69 29.11 - - - PHPT1 0 genome.wustl.edu 37 9 139744796 139744796 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 139744796 139744796 G A SNP PHPT1 ENST00000492540 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PHPT1 HGNC ENSG00000054148 29 0 0.00 13 7 35.00 - - - PHTF1 0 genome.wustl.edu 37 1 114243489 114243489 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 114243489 114243489 A - DEL PHTF1 ENST00000369604 human ensembl 69_37n -1 known frame_shift_del c.1973 p.L658fs 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 298 1 0.33 199 119 37.07 - - - PHYH 0 genome.wustl.edu 37 10 13336579 13336580 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 13336579 13336580 - T INS PHYH ENST00000263038 human ensembl 69_37n -1 known frame_shift_ins c.263_262 p.I88fs 1.000:0.556 pfam_Phytyl_CoA_dOase pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 317 0 0.00 203 92 31.19 - - - PI4K2A 0 genome.wustl.edu 37 10 99426328 99426328 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 99426328 99426328 G A SNP PI4K2A ENST00000370631 human ensembl 69_37n +1 known silent c.1218 p.K406 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 131 0 0.00 66 53 44.17 - - - PI4KAP1 0 genome.wustl.edu 37 22 20386703 20386703 + RNA SNP A A C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 20386703 20386703 A C SNP PI4KAP1 ENST00000430523 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors PI4KAP1 HGNC ENSG00000215513 50 0 0.00 24 26 52.00 - - - PI4KB 0 genome.wustl.edu 37 1 151280086 151280086 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 151280086 151280086 G T SNP PI4KB ENST00000271657 human ensembl 69_37n -1 known silent c.1182 p.P394 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 222 1 0.45 347 90 20.59 - - - PIAS2 0 genome.wustl.edu 37 18 44424815 44424815 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 44424815 44424815 A - DEL PIAS2 ENST00000591865 human ensembl 69_37n -1 known rna NULL NULL 0.945 - - - no_errors PIAS2 HGNC ENSG00000078043 155 0 0.00 102 53 33.12 - - - PIEZO1 0 genome.wustl.edu 37 16 88789042 88789042 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 88789042 88789042 G A SNP PIEZO1 ENST00000301015 human ensembl 69_37n -1 novel missense c.4724 p.A1575V 0.001 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 42 0 0.00 25 11 30.56 - - - PIEZO1 0 genome.wustl.edu 37 16 88799995 88799997 + Splice_Site DEL CCT CCT - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 88799995 88799997 CCT - DEL PIEZO1 ENST00000301015 human ensembl 69_37n -1 novel splice_site_del c.2487+3_2487+1 e19-1 1.000:1.000:1.000 - - - no_errors PIEZO1 HGNC ENSG00000103335 12 0 0.00 5 4 44.44 - - - PIEZO2 0 genome.wustl.edu 37 18 10671635 10671636 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 10671635 10671636 - A INS PIEZO2 ENST00000538948 human ensembl 69_37n -1 known frame_shift_ins c.2019_2018 p.L673fs 1.000:1.000 pfam_DUF3595 pfam_DUF3595 - no_errors PIEZO2 HGNC ENSG00000154864 283 0 0.00 209 86 29.15 - - - PIGT 0 genome.wustl.edu 37 20 44050025 44050025 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 44050025 44050025 G C SNP PIGT ENST00000279036 human ensembl 69_37n +1 known missense c.1036 p.A346P 0.980 pfam_Gpi16 pfam_Gpi16 - no_errors PIGT HGNC ENSG00000124155 48 0 0.00 32 13 28.89 - - - PIK3CG 0 genome.wustl.edu 37 7 106509620 106509620 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 106509620 106509620 G A SNP PIK3CG ENST00000359195 human ensembl 69_37n +1 known silent c.1614 p.P538 0.001 superfamily_ARM-type_fold pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,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 PIK3CG HGNC ENSG00000105851 242 2 0.82 171 107 38.49 - - - PIK3R6 0 genome.wustl.edu 37 17 8736214 8736214 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 8736214 8736214 C T SNP PIK3R6 ENST00000311434 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors PIK3R6 HGNC ENSG00000174083 15 0 0.00 8 5 38.46 - - - PIWIL2 0 genome.wustl.edu 37 8 22137059 22137059 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 22137059 22137059 C T SNP PIWIL2 ENST00000356766 human ensembl 69_37n +1 known missense c.160 p.P54S 0.383 NULL pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 142 0 0.00 142 58 28.71 - - - PKDREJ 0 genome.wustl.edu 37 22 46654179 46654179 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 46654179 46654179 G A SNP PKDREJ ENST00000253255 human ensembl 69_37n -1 known nonsense c.5041 p.R1681* 0.004 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 522 0 0.00 323 224 40.95 - - - PKHD1 0 genome.wustl.edu 37 6 51889528 51889528 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 51889528 51889528 C T SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.5080 p.G1694S 0.002 superfamily_Ig_E-set pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 76 0 0.00 62 29 31.87 - - - PLA2G3 0 genome.wustl.edu 37 22 31536080 31536080 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 31536080 31536080 A G SNP PLA2G3 ENST00000215885 human ensembl 69_37n -1 known silent c.261 p.C87 0.801 NULL pfam_PLipase_A2_euk,superfamily_PLipase_A2 - no_errors PLA2G3 HGNC ENSG00000100078 41 0 0.00 28 11 28.21 - - - PLCB4 0 genome.wustl.edu 37 20 9318694 9318694 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 9318694 9318694 C T SNP PLCB4 ENST00000334005 human ensembl 69_37n +1 known missense c.205 p.R69W 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 239 0 0.00 153 118 42.91 - - - PLCB4 0 genome.wustl.edu 37 20 9382159 9382159 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 9382159 9382159 C - DEL PLCB4 ENST00000334005 human ensembl 69_37n +1 known frame_shift_del c.1533 p.E513fs 1.000 pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 201 0 0.00 156 91 36.69 - - - PLEC 0 genome.wustl.edu 37 8 145009185 145009185 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 145009185 145009185 C A SNP PLEC ENST00000322810 human ensembl 69_37n -1 known missense c.1230 p.R410S 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 55 0 0.00 40 28 41.18 - - - PLEKHA6 0 genome.wustl.edu 37 1 204210854 204210854 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 204210854 204210854 C A SNP PLEKHA6 ENST00000272203 human ensembl 69_37n -1 known missense c.2261 p.R754M 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 552 0 0.00 996 230 18.76 - - - PLEKHA8 0 genome.wustl.edu 37 7 30092435 30092435 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 30092435 30092435 T C SNP PLEKHA8 ENST00000449726 human ensembl 69_37n +1 known missense c.749 p.I250T 0.115 NULL pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 119 0 0.00 85 55 39.29 - - - PLEKHG1 0 genome.wustl.edu 37 6 151161115 151161115 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 151161115 151161115 G A SNP PLEKHG1 ENST00000358517 human ensembl 69_37n +1 known missense c.3241 p.G1081R 0.970 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 134 0 0.00 40 108 72.97 - - - PLEKHG4B 0 genome.wustl.edu 37 5 169664 169664 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 169664 169664 G A SNP PLEKHG4B ENST00000283426 human ensembl 69_37n +1 known missense c.2618 p.C873Y 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 84 0 0.00 76 9 10.59 - - - PLEKHM1P 0 genome.wustl.edu 37 17 62796329 62796329 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 62796329 62796329 G A SNP PLEKHM1P ENST00000578036 human ensembl 69_37n -1 known rna NULL NULL 0.026 - - - no_errors PLEKHM1P HGNC ENSG00000214176 55 0 0.00 105 18 14.52 - - - PLP2 0 genome.wustl.edu 37 X 49029797 49029797 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 49029797 49029797 T C SNP PLP2 ENST00000376327 human ensembl 69_37n +1 known silent c.312 p.V104 0.426 pfam_MARVEL-like_dom pfam_MARVEL-like_dom - no_errors PLP2 HGNC ENSG00000102007 377 0 0.00 226 138 37.91 - - - PLS1 0 genome.wustl.edu 37 3 142430808 142430808 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 142430808 142430808 T C SNP PLS1 ENST00000337777 human ensembl 69_37n +1 known missense c.1849 p.F617L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC ENSG00000120756 226 0 0.00 148 92 38.33 - - - PLS3 0 genome.wustl.edu 37 X 114871268 114871268 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 114871268 114871268 A G SNP PLS3 ENST00000355899 human ensembl 69_37n +1 known missense c.869 p.N290S 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC ENSG00000102024 230 0 0.00 168 117 41.05 - - - PLXNA3 0 genome.wustl.edu 37 X 153688844 153688844 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 153688844 153688844 C T SNP PLXNA3 ENST00000369682 human ensembl 69_37n +1 known silent c.321 p.R107 0.999 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 27 0 0.00 14 10 41.67 - - - PLXNA3 0 genome.wustl.edu 37 X 153691977 153691977 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 153691977 153691977 C T SNP PLXNA3 ENST00000369682 human ensembl 69_37n +1 known silent c.1491 p.C497 0.020 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 14 0 0.00 10 7 41.18 - - - PLXNA3 0 genome.wustl.edu 37 X 153699600 153699600 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 153699600 153699600 C T SNP PLXNA3 ENST00000369682 human ensembl 69_37n +1 known missense c.5309 p.S1770L 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 286 0 0.00 170 86 33.59 - - - PLXNB2 0 genome.wustl.edu 37 22 50716373 50716373 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 50716373 50716373 C T SNP PLXNB2 ENST00000359337 human ensembl 69_37n -1 known missense c.4957 p.A1653T 0.998 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 55 0 0.00 35 19 35.19 - - - PLXNB2 0 genome.wustl.edu 37 22 50728157 50728157 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 50728157 50728157 G A SNP PLXNB2 ENST00000359337 human ensembl 69_37n -1 known missense c.857 p.A286V 0.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 57 0 0.00 37 13 26.00 - - - PM20D1 0 genome.wustl.edu 37 1 205797688 205797688 + RNA DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 205797688 205797688 C - DEL PM20D1 ENST00000460624 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PM20D1 HGNC ENSG00000162877 221 1 0.45 398 78 16.15 - - - PMP22 0 genome.wustl.edu 37 17 15162486 15162486 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 15162486 15162486 C T SNP PMP22 ENST00000312280 human ensembl 69_37n -1 known missense c.103 p.A35T 0.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20 - no_errors PMP22 HGNC ENSG00000109099 466 2 0.43 328 191 36.80 - - - PNMA5 0 genome.wustl.edu 37 X 152159203 152159203 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 152159203 152159203 A G SNP PNMA5 ENST00000361887 human ensembl 69_37n -1 known missense c.940 p.C314R 0.005 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 40 0 0.00 27 17 37.78 - - - POLD1 0 genome.wustl.edu 37 19 50906815 50906815 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 50906815 50906815 C T SNP POLD1 ENST00000440232 human ensembl 69_37n +1 known silent c.1203 p.F401 0.261 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 244 0 0.00 193 95 32.87 - - - POLE3 0 genome.wustl.edu 37 9 116172264 116172264 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 116172264 116172264 T C SNP POLE3 ENST00000479871 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors POLE3 HGNC ENSG00000148229 14 0 0.00 18 5 21.74 - - - POLK 0 genome.wustl.edu 37 5 74865213 74865213 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 74865213 74865213 A G SNP POLK ENST00000241436 human ensembl 69_37n +1 known missense c.304 p.T102A 1.000 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 273 0 0.00 225 123 35.34 - - - POLR3A 0 genome.wustl.edu 37 10 79767519 79767519 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 79767519 79767519 C - DEL POLR3A ENST00000372371 human ensembl 69_37n -1 known frame_shift_del c.2015 p.G672fs 1.000 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 215 0 0.00 136 82 37.10 - - - POMT1 0 genome.wustl.edu 37 9 134390889 134390890 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 134390889 134390890 - C INS POMT1 ENST00000372228 human ensembl 69_37n +1 known frame_shift_ins c.1318_1319 p.Q441fs 0.291:0.971 pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 159 0 0.00 111 58 34.32 - - - POP4 0 genome.wustl.edu 37 19 30101471 30101471 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 30101471 30101471 A G SNP POP4 ENST00000585603 human ensembl 69_37n +1 known silent c.216 p.K72 0.543 pirsf_RNase_P/MRP_p29-subunit pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit - no_errors POP4 HGNC ENSG00000105171 78 0 0.00 48 25 34.25 - - - POTEF 0 genome.wustl.edu 37 2 130832949 130832949 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 130832949 130832949 A G SNP POTEF ENST00000357462 human ensembl 69_37n -1 known missense c.2096 p.L699P 0.979 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEF HGNC ENSG00000196604 275 0 0.00 203 103 33.55 - - - POU3F4 0 genome.wustl.edu 37 X 82763664 82763664 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 82763664 82763664 C T SNP POU3F4 ENST00000373200 human ensembl 69_37n +1 known missense c.332 p.P111L 0.998 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 53 0 0.00 34 15 30.61 - - - POU3F4 0 genome.wustl.edu 37 X 82764178 82764178 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 82764178 82764178 G A SNP POU3F4 ENST00000373200 human ensembl 69_37n +1 known silent c.846 p.R282 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,prints_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 75 0 0.00 48 26 35.14 - - - PPAN-P2RY11 0 genome.wustl.edu 37 19 10221410 10221410 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 10221410 10221410 G - DEL PPAN-P2RY11 ENST00000393796 human ensembl 69_37n +1 known frame_shift_del c.1069 p.G358fs 0.000 NULL pfam_Brix,pfam_7TM_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_supfam - no_errors PPAN-P2RY11 HGNC ENSG00000243207 91 0 0.00 39 59 58.42 - - - PPAPDC3 0 genome.wustl.edu 37 9 134183534 134183534 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 134183534 134183534 G T SNP PPAPDC3 ENST00000372264 human ensembl 69_37n +1 known missense c.676 p.G226C 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC3 HGNC ENSG00000160539 86 0 0.00 48 56 53.85 - - - PPFIBP2 0 genome.wustl.edu 37 11 7660967 7660967 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 7660967 7660967 G A SNP PPFIBP2 ENST00000299492 human ensembl 69_37n +1 known missense c.1241 p.S414N 0.398 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 113 0 0.00 81 43 34.68 - - - PPIE 0 genome.wustl.edu 37 1 40205846 40205846 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 40205846 40205846 C T SNP PPIE ENST00000324379 human ensembl 69_37n +1 known missense c.41 p.A14V 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,prints_Cyclophilin-like_PPIase_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors PPIE HGNC ENSG00000084072 501 1 0.20 366 213 36.66 - - - PPIP5K2 0 genome.wustl.edu 37 5 102537309 102537309 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 102537309 102537309 A - DEL PPIP5K2 ENST00000358359 human ensembl 69_37n +1 known frame_shift_del c.3706 p.N1238fs 0.999 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 282 0 0.00 236 126 34.52 - - - PPM1F 0 genome.wustl.edu 37 22 22287849 22287849 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 22287849 22287849 G A SNP PPM1F ENST00000263212 human ensembl 69_37n -1 known missense c.661 p.P221S 0.694 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1F HGNC ENSG00000100034 75 0 0.00 49 29 37.18 - - - PPM1J 0 genome.wustl.edu 37 1 113253100 113253100 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 113253100 113253100 T G SNP PPM1J ENST00000309276 human ensembl 69_37n -1 known missense c.1352 p.E451A 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1J HGNC ENSG00000155367 330 0 0.00 169 120 41.52 - - - PPP1R15A 0 genome.wustl.edu 37 19 49377486 49377486 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 49377486 49377486 C - DEL PPP1R15A ENST00000200453 human ensembl 69_37n +1 known frame_shift_del c.996 p.P334fs 0.000 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 237 0 0.00 173 78 30.59 - - - PPP2R1A 0 genome.wustl.edu 37 19 52715982 52715982 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 52715982 52715982 C T SNP PPP2R1A ENST00000322088 human ensembl 69_37n +1 known missense c.547 p.R183W 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 76 0 0.00 56 36 38.71 - - - PPP2R3C 0 genome.wustl.edu 37 14 35585935 35585935 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 35585935 35585935 T - DEL PPP2R3C ENST00000261475 human ensembl 69_37n -1 known frame_shift_del c.67 p.S23fs 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 211 0 0.00 118 58 32.77 - - - PRAM1 0 genome.wustl.edu 37 19 8563815 8563815 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 8563815 8563815 G T SNP PRAM1 ENST00000423345 human ensembl 69_37n -1 known missense c.877 p.L293I 0.125 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 41 0 0.00 21 12 36.36 - - - PRB3 0 genome.wustl.edu 37 12 11420585 11420585 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 11420585 11420585 G A SNP PRB3 ENST00000381842 human ensembl 69_37n -1 known missense c.598 p.R200C 0.000 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 287 0 0.00 233 78 25.00 - - - PRDM10 0 genome.wustl.edu 37 11 129785682 129785682 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 129785682 129785682 A G SNP PRDM10 ENST00000358825 human ensembl 69_37n -1 known missense c.2411 p.I804T 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 207 0 0.00 154 84 35.29 - - - PRDX5 0 genome.wustl.edu 37 11 64087315 64087315 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 64087315 64087315 G T SNP PRDX5 ENST00000265462 human ensembl 69_37n +1 known missense c.281 p.G94V 1.000 pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold - no_errors PRDX5 HGNC ENSG00000126432 261 0 0.00 144 139 49.12 - - - PREP 0 genome.wustl.edu 37 6 105771556 105771556 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 105771556 105771556 T C SNP PREP ENST00000369110 human ensembl 69_37n -1 known missense c.1301 p.D434G 1.000 NULL pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 378 0 0.00 283 106 27.25 - - - PREX1 0 genome.wustl.edu 37 20 47256378 47256378 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 47256378 47256378 C T SNP PREX1 ENST00000371941 human ensembl 69_37n -1 known missense c.3830 p.S1277N 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 332 0 0.00 219 103 31.89 - - - PRICKLE3 0 genome.wustl.edu 37 X 49034493 49034493 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 49034493 49034493 G A SNP PRICKLE3 ENST00000453382 human ensembl 69_37n -1 known missense c.841 p.P281S 0.995 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRICKLE3 HGNC ENSG00000012211 83 0 0.00 44 36 43.90 - - - PRKAB2 0 genome.wustl.edu 37 1 146643618 146643618 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 146643618 146643618 T C SNP PRKAB2 ENST00000254101 human ensembl 69_37n -1 known missense c.106 p.M36V 1.000 NULL pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB2 HGNC ENSG00000131791 30 0 0.00 86 13 13.13 - - - PRKCA 0 genome.wustl.edu 37 17 64641576 64641576 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 64641576 64641576 G - DEL PRKCA ENST00000413366 human ensembl 69_37n +1 known frame_shift_del c.476 p.R161fs 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 375 0 0.00 845 131 13.39 - - - PRKCG 0 genome.wustl.edu 37 19 54403525 54403525 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 54403525 54403525 A G SNP PRKCG ENST00000540413 human ensembl 69_37n +1 known silent c.1320 p.G440 0.995 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCG HGNC ENSG00000126583 150 1 0.66 70 66 48.53 - - - PRKG1 0 genome.wustl.edu 37 10 54040671 54040671 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 54040671 54040671 A G SNP PRKG1 ENST00000373980 human ensembl 69_37n +1 known missense c.1526 p.H509R 1.000 pirsf_cGMP-dependent_protein_kinase,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 pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKG1 HGNC ENSG00000185532 208 0 0.00 128 83 39.34 - - - PRLHR 0 genome.wustl.edu 37 10 120354131 120354131 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 120354131 120354131 C T SNP PRLHR ENST00000239032 human ensembl 69_37n -1 known missense c.626 p.R209H 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Prolrel_pep_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Prolrel_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 9 0 0.00 5 4 44.44 - - - PRMT5 0 genome.wustl.edu 37 14 23393914 23393914 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 23393914 23393914 A G SNP PRMT5 ENST00000324366 human ensembl 69_37n -1 known missense c.944 p.L315P 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 245 0 0.00 143 70 32.86 - - - PRPF8 0 genome.wustl.edu 37 17 1579900 1579900 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 1579900 1579900 G A SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known nonsense c.2287 p.R763* 0.997 pfam_PROCN pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 139 0 0.00 110 55 33.33 - - - PRR14L 0 genome.wustl.edu 37 22 32110826 32110827 + Frame_Shift_Ins INS - - TC TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 32110826 32110827 - TC INS PRR14L ENST00000397493 human ensembl 69_37n -1 known frame_shift_ins c.2999_2998 p.T1000fs 0.000:0.000 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 359 0 0.00 295 128 30.26 - - - PRRG3 0 genome.wustl.edu 37 X 150873773 150873773 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 150873773 150873773 A G SNP PRRG3 ENST00000448324 human ensembl 69_37n +1 known silent c.177 p.S59 0.001 NULL NULL - no_start_codon PRRG3 HGNC ENSG00000130032 134 0 0.00 85 65 43.05 - - - PRRX1 0 genome.wustl.edu 37 1 170705372 170705372 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 170705372 170705372 T C SNP PRRX1 ENST00000485529 human ensembl 69_37n +1 putative rna NULL NULL 0.989 - - - no_errors PRRX1 HGNC ENSG00000116132 87 0 0.00 152 46 23.12 - - - PRSS3 0 genome.wustl.edu 37 9 33797968 33797968 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 33797968 33797968 C A SNP PRSS3 ENST00000361005 human ensembl 69_37n +1 known silent c.513 p.S171 0.017 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 627 0 0.00 412 187 31.17 - - - PRSS36 0 genome.wustl.edu 37 16 31160508 31160508 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 31160508 31160508 G A SNP PRSS36 ENST00000268281 human ensembl 69_37n -1 known missense c.158 p.A53V 0.264 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS36 HGNC ENSG00000178226 14 0 0.00 12 5 29.41 - - - PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 69_37n -1 known frame_shift_del c.3167 p.F1056fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 89 0 0.00 64 53 44.54 - - - PSAPL1 0 genome.wustl.edu 37 4 7435313 7435313 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 7435313 7435313 G A SNP PSAPL1 ENST00000319098 human ensembl 69_37n -1 known silent c.1294 p.L432 0.001 pirsf_Saposin_chordata,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB,prints_Saposin pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors PSAPL1 HGNC ENSG00000178597 54 0 0.00 33 24 41.38 - - - PSD2 0 genome.wustl.edu 37 5 139189067 139189067 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 139189067 139189067 C T SNP PSD2 ENST00000274710 human ensembl 69_37n +1 known silent c.42 p.G14 0.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD2 HGNC ENSG00000146005 15 0 0.00 17 8 29.63 - - - PSG6 0 genome.wustl.edu 37 19 43414746 43414746 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 43414746 43414746 G A SNP PSG6 ENST00000292125 human ensembl 69_37n -1 known missense c.692 p.T231I 0.053 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 299 0 0.00 162 100 38.17 - - - PSMC3 0 genome.wustl.edu 37 11 47447428 47447428 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 47447428 47447428 C T SNP PSMC3 ENST00000298852 human ensembl 69_37n -1 known missense c.149 p.S50N 1.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 52 0 0.00 45 6 11.76 - - - PSMC5 0 genome.wustl.edu 37 17 61908445 61908448 + Frame_Shift_Del DEL ATCT ATCT - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 ATCT ATCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 61908445 61908448 ATCT - DEL PSMC5 ENST00000310144 human ensembl 69_37n +1 known frame_shift_del c.729_732 p.I245fs 0.023:0.997:1.000:0.935 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 154 0 0.00 228 60 20.62 - - - PSME4 0 genome.wustl.edu 37 2 54154539 54154539 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 54154539 54154539 G T SNP PSME4 ENST00000404125 human ensembl 69_37n -1 known missense c.1585 p.L529I 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 294 0 0.00 209 96 31.48 - - - PSPC1 0 genome.wustl.edu 37 13 20279944 20279944 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 20279944 20279944 T C SNP PSPC1 ENST00000338910 human ensembl 69_37n -1 known missense c.1244 p.N415S 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 563 1 0.18 487 116 19.24 - - - PSTPIP2 0 genome.wustl.edu 37 18 43571950 43571950 + Splice_Site SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 43571950 43571950 C T SNP PSTPIP2 ENST00000409746 human ensembl 69_37n -1 known splice_site c.839-1 e12-1 1.000 - - - no_errors PSTPIP2 HGNC ENSG00000152229 343 2 0.58 236 133 35.95 - - - PTGDS 0 genome.wustl.edu 37 9 139874487 139874487 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 139874487 139874487 G A SNP PTGDS ENST00000224167 human ensembl 69_37n +1 known missense c.523 p.E175K 0.015 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth - no_errors PTGDS HGNC ENSG00000107317 57 0 0.00 18 17 48.57 - - - PTGDS 0 genome.wustl.edu 37 9 139875171 139875172 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 139875171 139875172 - T INS PTGDS ENST00000444903 human ensembl 69_37n +1 known frame_shift_ins c.70_71 p.W25fs 0.000:0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PTGDS HGNC ENSG00000107317 114 0 0.00 69 37 34.91 - - - PTK2B 0 genome.wustl.edu 37 8 27296898 27296898 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 27296898 27296898 G T SNP PTK2B ENST00000346049 human ensembl 69_37n +1 known missense c.1817 p.S606I 1.000 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 131 0 0.00 84 64 43.24 - - - PTPN21 0 genome.wustl.edu 37 14 88935948 88935948 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 88935948 88935948 G T SNP PTPN21 ENST00000328736 human ensembl 69_37n -1 known missense c.3130 p.L1044M 0.990 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 322 1 0.31 201 126 38.53 - - - PTPN21 0 genome.wustl.edu 37 14 88945437 88945437 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 88945437 88945437 T C SNP PTPN21 ENST00000328736 human ensembl 69_37n -1 known missense c.2338 p.T780A 0.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 29 0 0.00 12 15 55.56 - - - PTPRD 0 genome.wustl.edu 37 9 8507409 8507409 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 8507409 8507409 T C SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known silent c.1569 p.K523 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 473 0 0.00 340 206 37.66 - - - PTPRE 0 genome.wustl.edu 37 10 129866447 129866447 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 129866447 129866447 C T SNP PTPRE ENST00000254667 human ensembl 69_37n +1 known missense c.904 p.P302S 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 64 0 0.00 30 20 39.22 - - - PTPRU 0 genome.wustl.edu 37 1 29609285 29609285 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 29609285 29609285 G A SNP PTPRU ENST00000345512 human ensembl 69_37n +1 known missense c.1966 p.A656T 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRU HGNC ENSG00000060656 61 0 0.00 53 35 39.77 - - - PUM2 0 genome.wustl.edu 37 2 20463032 20463032 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 20463032 20463032 T C SNP PUM2 ENST00000361078 human ensembl 69_37n -1 known missense c.2147 p.N716S 1.000 superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 174 0 0.00 118 76 39.18 - - - PVR 0 genome.wustl.edu 37 19 45150758 45150758 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 45150758 45150758 G A SNP PVR ENST00000425690 human ensembl 69_37n +1 known missense c.343 p.V115I 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVR HGNC ENSG00000073008 73 0 0.00 54 29 34.94 - - - PVRL2 0 genome.wustl.edu 37 19 45381809 45381809 + Splice_Site SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 45381809 45381809 G A SNP PVRL2 ENST00000591581 human ensembl 69_37n +1 novel splice_site c.565-1 e4-1 0.000 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PVRL2 HGNC ENSG00000130202 52 0 0.00 45 18 28.57 - - - PYGB 0 genome.wustl.edu 37 20 25277269 25277269 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 25277269 25277269 A G SNP PYGB ENST00000471359 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PYGB HGNC ENSG00000100994 14 0 0.00 7 6 46.15 - - - PYGO2 0 genome.wustl.edu 37 1 154931988 154931988 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 154931988 154931988 G A SNP PYGO2 ENST00000368457 human ensembl 69_37n -1 known missense c.488 p.P163L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 128 0 0.00 299 60 16.71 - - - PZP 0 genome.wustl.edu 37 12 9321278 9321278 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 9321278 9321278 A - DEL PZP ENST00000546116 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PZP HGNC ENSG00000126838 19 0 0.00 7 9 50.00 - - - QSOX1 0 genome.wustl.edu 37 1 180153145 180153145 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 180153145 180153145 G A SNP QSOX1 ENST00000367602 human ensembl 69_37n +1 known missense c.847 p.A283T 0.000 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 231 1 0.43 482 90 15.68 - - - RAB11A 0 genome.wustl.edu 37 15 66170177 66170177 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 66170177 66170177 G A SNP RAB11A ENST00000261890 human ensembl 69_37n +1 known nonsense c.314 p.W105* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,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 RAB11A HGNC ENSG00000103769 312 0 0.00 211 118 35.87 - - - RAB40C 0 genome.wustl.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 677579 677580 - C INS RAB40C ENST00000248139 human ensembl 69_37n +1 known frame_shift_ins c.803_804 p.Q271fs 1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 181 1 0.55 101 50 33.11 - - - RABGGTB 0 genome.wustl.edu 37 1 76256965 76256965 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 76256965 76256965 T C SNP RABGGTB ENST00000467748 human ensembl 69_37n +1 known rna NULL NULL 0.141 - - - no_errors RABGGTB HGNC ENSG00000137955 549 0 0.00 371 246 39.87 - - - RABL6 0 genome.wustl.edu 37 9 139720235 139720235 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 139720235 139720235 G A SNP RABL6 ENST00000425121 human ensembl 69_37n +1 known missense c.1 p.G1R 0.960 NULL pfam_Small_GTPase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RABL6 HGNC ENSG00000196642 675 1 0.15 373 254 40.38 - - - RALGAPA2 0 genome.wustl.edu 37 20 20553666 20553666 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 20553666 20553666 C - DEL RALGAPA2 ENST00000202677 human ensembl 69_37n -1 known frame_shift_del c.2754 p.S919fs 0.998 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 131 1 0.75 125 69 35.20 - - - RALGDS 0 genome.wustl.edu 37 9 135976891 135976892 + RNA INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 135976891 135976892 - C INS RALGDS ENST00000469972 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.000 - - - no_errors RALGDS HGNC ENSG00000160271 62 0 0.00 47 20 29.85 - - - RAPGEF2 0 genome.wustl.edu 37 4 160252651 160252651 + Silent SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 160252651 160252651 T A SNP RAPGEF2 ENST00000264431 human ensembl 69_37n +1 known silent c.1053 p.T351 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 174 0 0.00 125 51 28.98 - - - RASAL2 0 genome.wustl.edu 37 1 178252826 178252826 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 178252826 178252826 G T SNP RASAL2 ENST00000367649 human ensembl 69_37n +1 known missense c.330 p.E110D 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 257 0 0.00 520 105 16.77 - - - RASGRP4 0 genome.wustl.edu 37 19 38901820 38901820 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 38901820 38901820 G C SNP RASGRP4 ENST00000587738 human ensembl 69_37n -1 known missense c.1787 p.A596G 0.069 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 281 0 0.00 140 111 44.05 - - - RBBP8 0 genome.wustl.edu 37 18 20572915 20572915 + Silent SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 20572915 20572915 T A SNP RBBP8 ENST00000327155 human ensembl 69_37n +1 known silent c.1125 p.T375 0.005 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 58 0 0.00 57 41 41.84 - - - RBM42 0 genome.wustl.edu 37 19 36125260 36125260 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 36125260 36125260 C T SNP RBM42 ENST00000262633 human ensembl 69_37n +1 known silent c.1120 p.L374 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 49 0 0.00 35 11 23.91 - - - RBM44 0 genome.wustl.edu 37 2 238725800 238725800 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 238725800 238725800 T - DEL RBM44 ENST00000316997 human ensembl 69_37n +1 known frame_shift_del c.241 p.S83fs 0.003 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 85 0 0.00 69 36 33.96 - - - RBMXL3 0 genome.wustl.edu 37 X 114424802 114424802 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 114424802 114424802 C T SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known silent c.798 p.H266 0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 24 0 0.00 22 15 39.47 - - - RCC2 0 genome.wustl.edu 37 1 17739610 17739610 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 17739610 17739610 C T SNP RCC2 ENST00000375433 human ensembl 69_37n -1 known silent c.1272 p.V424 0.987 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 209 0 0.00 135 101 42.80 - - - RCN1 0 genome.wustl.edu 37 11 32112926 32112926 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 32112926 32112926 G A SNP RCN1 ENST00000054950 human ensembl 69_37n +1 known missense c.184 p.A62T 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors RCN1 HGNC ENSG00000049449 29 0 0.00 17 9 33.33 - - - RDH5 0 genome.wustl.edu 37 12 56115678 56115679 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 56115678 56115679 - G INS RDH5 ENST00000257895 human ensembl 69_37n +1 known frame_shift_ins c.516_517 p.Y174fs 0.639:1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH5 HGNC ENSG00000135437 60 0 0.00 51 18 26.09 - - - REPIN1 0 genome.wustl.edu 37 7 150069011 150069011 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 150069011 150069011 C T SNP REPIN1 ENST00000489432 human ensembl 69_37n +1 known silent c.852 p.P284 0.623 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 12 0 0.00 6 4 40.00 - - - RERE 0 genome.wustl.edu 37 1 8416175 8416175 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 8416175 8416175 G A SNP RERE ENST00000337907 human ensembl 69_37n -1 known missense c.4471 p.R1491C 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 199 0 0.00 123 86 40.95 - - - RET 0 genome.wustl.edu 37 10 43597893 43597895 + In_Frame_Del DEL CTC CTC - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 43597893 43597895 CTC - DEL RET ENST00000355710 human ensembl 69_37n +1 known in_frame_del c.441_443 p.S148in_frame_del 0.516:0.499:0.495 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 201 0 0.00 162 74 31.36 - - - REV1 0 genome.wustl.edu 37 2 100019234 100019234 + Silent SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 100019234 100019234 C G SNP REV1 ENST00000258428 human ensembl 69_37n -1 known silent c.3414 p.V1138 0.000 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 214 0 0.00 153 79 33.76 - - - REV1 0 genome.wustl.edu 37 2 100055545 100055545 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 100055545 100055545 G A SNP REV1 ENST00000258428 human ensembl 69_37n -1 known missense c.731 p.P244L 0.899 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 134 0 0.00 102 58 35.80 - - - REV3L 0 genome.wustl.edu 37 6 111696541 111696541 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 111696541 111696541 A G SNP REV3L ENST00000358835 human ensembl 69_37n -1 known missense c.3017 p.L1006S 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 113 0 0.00 82 64 43.84 - - - RFX1 0 genome.wustl.edu 37 19 14093025 14093025 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 14093025 14093025 G A SNP RFX1 ENST00000254325 human ensembl 69_37n -1 known missense c.529 p.R177C 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 19 0 0.00 17 12 41.38 - - - RFXANK 0 genome.wustl.edu 37 19 19308331 19308331 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 19308331 19308331 T C SNP RFXANK ENST00000303088 human ensembl 69_37n +1 known silent c.339 p.G113 0.754 superfamily_Ankyrin_rpt-contain_dom,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 23 0 0.00 22 11 32.35 - - - RHBG 0 genome.wustl.edu 37 1 156354347 156354348 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 156354347 156354348 - C INS RHBG ENST00000400992 human ensembl 69_37n +1 known frame_shift_ins c.1168_1169 p.R393fs 0.006:0.723 superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 251 1 0.40 399 64 13.82 - - - RHOT1 0 genome.wustl.edu 37 17 30498102 30498102 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 30498102 30498102 T C SNP RHOT1 ENST00000358365 human ensembl 69_37n +1 known silent c.78 p.S26 1.000 pfam_MIRO-like,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_Miro,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC ENSG00000126858 168 0 0.00 122 19 13.29 - - - RHOXF1 0 genome.wustl.edu 37 X 119249600 119249600 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 119249600 119249600 T C SNP RHOXF1 ENST00000217999 human ensembl 69_37n -1 known missense c.173 p.N58S 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors RHOXF1 HGNC ENSG00000101883 43 0 0.00 34 17 33.33 - - - RHPN1 0 genome.wustl.edu 37 8 144461121 144461121 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 144461121 144461121 C A SNP RHPN1 ENST00000289013 human ensembl 69_37n +1 known silent c.624 p.A208 0.994 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 56 0 0.00 32 15 31.91 - - - RIF1 0 genome.wustl.edu 37 2 152289601 152289601 + Nonstop_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 152289601 152289601 T C SNP RIF1 ENST00000414861 human ensembl 69_37n +1 novel nonstop c.910 p.*304Q 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RIF1 HGNC ENSG00000080345 291 0 0.00 204 112 35.44 - - - RLN1 0 genome.wustl.edu 37 9 5335193 5335194 + RNA INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 5335193 5335194 - A INS RLN1 ENST00000487557 human ensembl 69_37n -1 known rna NULL NULL 0.001:0.002 - - - no_errors RLN1 HGNC ENSG00000107018 101 0 0.00 56 32 36.36 - - - RLTPR 0 genome.wustl.edu 37 16 67684005 67684005 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 67684005 67684005 C T SNP RLTPR ENST00000334583 human ensembl 69_37n +1 known silent c.2136 p.H712 0.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 160 1 0.62 132 64 32.65 - - - RND3 0 genome.wustl.edu 37 2 151331469 151331469 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 151331469 151331469 G T SNP RND3 ENST00000263895 human ensembl 69_37n -1 known missense c.268 p.L90I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND3 HGNC ENSG00000115963 332 0 0.00 188 112 37.33 - - - RNF126 0 genome.wustl.edu 37 19 648216 648216 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 648216 648216 G - DEL RNF126 ENST00000292363 human ensembl 69_37n -1 known frame_shift_del c.848 p.P283fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC ENSG00000070423 234 0 0.00 69 130 62.50 - - - RNF13 0 genome.wustl.edu 37 3 149678568 149678568 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 149678568 149678568 A - DEL RNF13 ENST00000344229 human ensembl 69_37n +1 known frame_shift_del c.823 p.T277fs 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF13 HGNC ENSG00000082996 128 0 0.00 85 63 40.65 - - - RNF146 0 genome.wustl.edu 37 6 127608398 127608398 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 127608398 127608398 C T SNP RNF146 ENST00000368314 human ensembl 69_37n +1 known missense c.640 p.P214S 1.000 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 227 1 0.44 138 82 37.27 - - - RNF146 0 genome.wustl.edu 37 6 127608744 127608744 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 127608744 127608744 C T SNP RNF146 ENST00000368314 human ensembl 69_37n +1 known missense c.986 p.S329L 0.018 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 171 0 0.00 95 75 43.86 - - - RNF207 0 genome.wustl.edu 37 1 6269366 6269366 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 6269366 6269366 A G SNP RNF207 ENST00000377939 human ensembl 69_37n +1 novel missense c.590 p.Y197C 1.000 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 21 0 0.00 12 7 36.84 - - - RNF212 0 genome.wustl.edu 37 4 1094724 1094724 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 1094724 1094724 A G SNP RNF212 ENST00000505730 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors RNF212 HGNC ENSG00000178222 48 0 0.00 13 15 53.57 - - - RNF213 0 genome.wustl.edu 37 17 78320424 78320424 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 78320424 78320424 T C SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known silent c.8289 p.I2763 0.939 smart_AAA+_ATPase smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 24 0 0.00 58 17 22.67 - - - RNF213 0 genome.wustl.edu 37 17 78321794 78321794 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 78321794 78321794 G A SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.9659 p.G3220D 1.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 128 0 0.00 261 43 13.61 - - - RNF213 0 genome.wustl.edu 37 17 78332203 78332203 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 78332203 78332203 T C SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.10978 p.W3660R 1.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 219 0 0.00 421 73 14.78 - - - RNF214 0 genome.wustl.edu 37 11 117150623 117150623 + Splice_Site SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 117150623 117150623 G C SNP RNF214 ENST00000300650 human ensembl 69_37n +1 known splice_site c.960-1 e6-1 1.000 - - - no_errors RNF214 HGNC ENSG00000167257 568 0 0.00 371 214 36.58 - - - RNF26 0 genome.wustl.edu 37 11 119206924 119206924 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 119206924 119206924 G A SNP RNF26 ENST00000311413 human ensembl 69_37n +1 known silent c.1092 p.G364 0.507 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 138 0 0.00 87 56 39.16 - - - RNF38 0 genome.wustl.edu 37 9 36353283 36353283 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 36353283 36353283 G A SNP RNF38 ENST00000259605 human ensembl 69_37n -1 known missense c.955 p.L319F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 353 0 0.00 251 157 38.48 - - - RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 69_37n -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 149 0 0.00 255 29 10.14 - - - RNFT1 0 genome.wustl.edu 37 17 58040604 58040604 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 58040604 58040604 T C SNP RNFT1 ENST00000305783 human ensembl 69_37n -1 known missense c.98 p.K33R 0.152 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT1 HGNC ENSG00000189050 68 0 0.00 122 38 23.75 - - - RP1L1 0 genome.wustl.edu 37 8 10465065 10465065 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 10465065 10465065 C A SNP RP1L1 ENST00000382483 human ensembl 69_37n -1 known missense c.6543 p.E2181D 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 722 2 0.28 356 216 37.63 - - - RPLP0P2 0 genome.wustl.edu 37 11 61404623 61404623 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 61404623 61404623 G A SNP RPLP0P2 ENST00000496593 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 114 0 0.00 78 58 42.65 - - - RPS6KA5 0 genome.wustl.edu 37 14 91372562 91372562 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 91372562 91372562 T G SNP RPS6KA5 ENST00000261991 human ensembl 69_37n -1 known missense c.888 p.K296N 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA5 HGNC ENSG00000100784 219 0 0.00 184 94 33.81 - - - RPS8 0 genome.wustl.edu 37 1 45243287 45243287 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 45243287 45243287 T G SNP RPS8 ENST00000396651 human ensembl 69_37n +1 known missense c.213 p.C71W 1.000 pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e - no_errors RPS8 HGNC ENSG00000142937 172 0 0.00 112 69 38.12 - - - RPTOR 0 genome.wustl.edu 37 17 78820339 78820339 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 78820339 78820339 C T SNP RPTOR ENST00000306801 human ensembl 69_37n +1 known nonsense c.1279 p.R427* 1.000 superfamily_ARM-type_fold,prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 115 0 0.00 216 41 15.95 - - - RRN3 0 genome.wustl.edu 37 16 15157141 15157141 + Splice_Site SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 15157141 15157141 C A SNP RRN3 ENST00000198767 human ensembl 69_37n -1 known splice_site c.1707-1 e17-1 1.000 - - - no_errors RRN3 HGNC ENSG00000085721 274 0 0.00 175 94 34.94 - - - RRN3 0 genome.wustl.edu 37 16 15162055 15162055 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 15162055 15162055 T C SNP RRN3 ENST00000198767 human ensembl 69_37n -1 known silent c.1524 p.S508 0.000 pfam_RNA_pol_I_trans_ini_fac_RRN3 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 34 0 0.00 23 13 36.11 - - - RSPRY1 0 genome.wustl.edu 37 16 57272810 57272810 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 57272810 57272810 G A SNP RSPRY1 ENST00000394420 human ensembl 69_37n +1 known missense c.1654 p.A552T 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC ENSG00000159579 185 0 0.00 137 74 35.07 - - - RTL1 0 genome.wustl.edu 37 14 101348856 101348856 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 101348856 101348856 C T SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known missense c.2270 p.R757H 0.933 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 292 0 0.00 152 133 45.86 - - - RUNX3 0 genome.wustl.edu 37 1 25228982 25228982 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 25228982 25228982 G A SNP RUNX3 ENST00000338888 human ensembl 69_37n -1 known silent c.921 p.S307 0.997 pirsf_TF_Runt-rel_RUNX pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N - no_errors RUNX3 HGNC ENSG00000020633 30 0 0.00 21 18 45.00 - - - RUSC1 0 genome.wustl.edu 37 1 155294982 155294982 + RNA DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155294982 155294982 G - DEL RUSC1 ENST00000462780 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors RUSC1 HGNC ENSG00000160753 151 0 0.00 257 38 12.75 - - - RUSC1 0 genome.wustl.edu 37 1 155296415 155296415 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155296415 155296415 G A SNP RUSC1 ENST00000368352 human ensembl 69_37n +1 known missense c.1906 p.A636T 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 127 0 0.00 189 44 18.57 - - - RUSC1-AS1 0 genome.wustl.edu 37 1 155290920 155290920 + RNA SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155290920 155290920 A T SNP RUSC1-AS1 ENST00000450199 human ensembl 69_37n -1 known rna NULL NULL 0.340 - - - no_errors RUSC1-AS1 HGNC ENSG00000225855 298 0 0.00 515 100 16.08 - - - RYR1 0 genome.wustl.edu 37 19 38976361 38976361 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 38976361 38976361 A G SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.5066 p.D1689G 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 25 0 0.00 12 14 53.85 - - - RYR3 0 genome.wustl.edu 37 15 34137183 34137183 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 34137183 34137183 A G SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.13417 p.M4473V 1.000 pfam_Ryanrecept_TM4-6,superfamily_4_helix_cytokine-like_core pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 324 0 0.00 209 115 35.49 - - - S100A14 0 genome.wustl.edu 37 1 153588378 153588378 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 153588378 153588378 T C SNP S100A14 ENST00000368700 human ensembl 69_37n -1 known rna NULL NULL 0.697 - - - no_errors S100A14 HGNC ENSG00000189334 204 0 0.00 436 84 16.12 - - - SACS 0 genome.wustl.edu 37 13 23911836 23911836 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 23911836 23911836 A G SNP SACS ENST00000382292 human ensembl 69_37n -1 known missense c.6179 p.V2060A 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 37 0 0.00 26 13 32.50 - - - SACS 0 genome.wustl.edu 37 13 23912644 23912644 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 23912644 23912644 C T SNP SACS ENST00000382292 human ensembl 69_37n -1 known missense c.5371 p.A1791T 0.095 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 257 0 0.00 186 99 34.74 - - - SAE1 0 genome.wustl.edu 37 19 47706960 47706960 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 47706960 47706960 C T SNP SAE1 ENST00000270225 human ensembl 69_37n +1 known missense c.911 p.A304V 0.999 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like - no_errors SAE1 HGNC ENSG00000142230 628 0 0.00 430 292 40.39 - - - SAG 0 genome.wustl.edu 37 2 234229296 234229296 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 234229296 234229296 G A SNP SAG ENST00000409110 human ensembl 69_37n +1 known missense c.202 p.A68T 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 94 0 0.00 79 38 29.92 - - - SALL1 0 genome.wustl.edu 37 16 51185093 51185093 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 51185093 51185093 C T SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known silent c.60 p.S20 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 61 0 0.00 45 23 33.82 - - - SAMHD1 0 genome.wustl.edu 37 20 35547873 35547873 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 35547873 35547873 C T SNP SAMHD1 ENST00000262878 human ensembl 69_37n -1 known missense c.746 p.G249E 0.285 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 255 1 0.39 187 114 37.87 - - - SARM1 0 genome.wustl.edu 37 17 26708464 26708464 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 26708464 26708464 G C SNP SARM1 ENST00000457710 human ensembl 69_37n +1 novel missense c.611 p.G204A 1.000 superfamily_ARM-type_fold pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC ENSG00000004139 21 0 0.00 17 6 26.09 - - - SATB1 0 genome.wustl.edu 37 3 18436303 18436303 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 18436303 18436303 G A SNP SATB1 ENST00000338745 human ensembl 69_37n -1 known missense c.857 p.A286V 0.733 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 246 0 0.00 183 85 31.48 - - - SBF1 0 genome.wustl.edu 37 22 50900047 50900047 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 50900047 50900047 C - DEL SBF1 ENST00000380817 human ensembl 69_37n -1 known frame_shift_del c.2744 p.G915fs 0.930 pfam_GRAM,smart_GRAM pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 15 0 0.00 13 6 31.58 - - - SBNO2 0 genome.wustl.edu 37 19 1123591 1123591 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 1123591 1123591 C A SNP SBNO2 ENST00000361757 human ensembl 69_37n -1 known missense c.570 p.E190D 0.972 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 188 0 0.00 109 69 38.76 - - - SCAND3 0 genome.wustl.edu 37 6 28540866 28540866 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 28540866 28540866 A - DEL SCAND3 ENST00000452236 human ensembl 69_37n -1 known frame_shift_del c.2800 p.S934fs 1.000 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 136 0 0.00 81 53 38.69 - - - SCAPER 0 genome.wustl.edu 37 15 77057327 77057327 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 77057327 77057327 A G SNP SCAPER ENST00000324767 human ensembl 69_37n -1 known missense c.1700 p.L567S 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 315 0 0.00 252 127 33.51 - - - SCARA5 0 genome.wustl.edu 37 8 27767201 27767201 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 27767201 27767201 G T SNP SCARA5 ENST00000354914 human ensembl 69_37n -1 known missense c.976 p.P326T 0.938 pfam_Collagen pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SCARA5 HGNC ENSG00000168079 173 0 0.00 120 70 36.84 - - - SCN1A 0 genome.wustl.edu 37 2 166848778 166848778 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 166848778 166848778 C T SNP SCN1A ENST00000303395 human ensembl 69_37n -1 known silent c.5007 p.A1669 0.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 691 1 0.14 432 220 33.74 - - - SCN4A 0 genome.wustl.edu 37 17 62019085 62019085 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 62019085 62019085 G A SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known silent c.4557 p.F1519 0.951 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 339 0 0.00 498 98 16.42 - - - SCN4A 0 genome.wustl.edu 37 17 62020328 62020328 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 62020328 62020328 C T SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known silent c.4146 p.V1382 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 449 0 0.00 784 143 15.39 - - - SCN5A 0 genome.wustl.edu 37 3 38616941 38616941 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 38616941 38616941 G T SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known silent c.3513 p.G1171 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 54 0 0.00 18 17 48.57 - - - SCNN1A 0 genome.wustl.edu 37 12 6457217 6457217 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 6457217 6457217 G A SNP SCNN1A ENST00000358945 human ensembl 69_37n -1 known missense c.1898 p.S633F 0.098 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 45 0 0.00 31 17 35.42 - - - SCNN1B 0 genome.wustl.edu 37 16 23391803 23391803 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 23391803 23391803 T G SNP SCNN1B ENST00000307331 human ensembl 69_37n +1 known missense c.1739 p.L580R 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 144 0 0.00 84 47 35.88 - - - SCRIB 0 genome.wustl.edu 37 8 144885935 144885935 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 144885935 144885935 C T SNP SCRIB ENST00000320476 human ensembl 69_37n -1 known missense c.3296 p.R1099Q 1.000 superfamily_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 9 0 0.00 9 5 35.71 - - - SCRN2 0 genome.wustl.edu 37 17 45917585 45917585 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 45917585 45917585 C - DEL SCRN2 ENST00000290216 human ensembl 69_37n -1 known frame_shift_del c.328 p.E110fs 1.000 pfam_Peptidase_C69,pfam_Pept_C45_AAT pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 134 0 0.00 82 55 39.86 - - - SCYL3 0 genome.wustl.edu 37 1 169845143 169845146 + Frame_Shift_Del DEL ACAA ACAA - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 169845143 169845146 ACAA - DEL SCYL3 ENST00000367770 human ensembl 69_37n -1 known frame_shift_del c.441_438 p.C147fs 0.000:0.972:0.970:0.500 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom - no_errors SCYL3 HGNC ENSG00000000457 311 0 0.00 683 103 13.02 - - - SDC3 0 genome.wustl.edu 37 1 31350004 31350004 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 31350004 31350004 G A SNP SDC3 ENST00000339394 human ensembl 69_37n -1 known nonsense c.265 p.Q89* 1.000 pfam_Syndecan pfam_Syndecan,smart_Neurexin-like - no_errors SDC3 HGNC ENSG00000162512 43 0 0.00 15 13 46.43 - - - SDC4 0 genome.wustl.edu 37 20 43964515 43964515 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 43964515 43964515 G A SNP SDC4 ENST00000372733 human ensembl 69_37n -1 known nonsense c.106 p.R36* 0.521 NULL pfam_Syndecan,smart_Neurexin-like - no_errors SDC4 HGNC ENSG00000124145 138 0 0.00 95 49 34.03 - - - SDCCAG8 0 genome.wustl.edu 37 1 243507632 243507632 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 243507632 243507632 A G SNP SDCCAG8 ENST00000366541 human ensembl 69_37n +1 known missense c.1472 p.Q491R 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 348 2 0.57 640 131 16.99 - - - SDK2 0 genome.wustl.edu 37 17 71397224 71397224 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 71397224 71397224 G A SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.2906 p.A969V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 166 0 0.00 265 63 19.15 - - - SEC14L1 0 genome.wustl.edu 37 17 75190772 75190772 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 75190772 75190772 T C SNP SEC14L1 ENST00000392476 human ensembl 69_37n +1 known missense c.488 p.I163T 0.997 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 149 0 0.00 260 66 20.25 - - - SEC31A 0 genome.wustl.edu 37 4 83745800 83745800 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 83745800 83745800 T - DEL SEC31A ENST00000432794 human ensembl 69_37n -1 known frame_shift_del c.3358 p.I1120fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 490 2 0.41 378 184 32.62 - - - SEC61A2 0 genome.wustl.edu 37 10 12209886 12209886 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 12209886 12209886 G A SNP SEC61A2 ENST00000495368 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SEC61A2 HGNC ENSG00000065665 120 0 0.00 49 43 46.24 - - - SEMA3E 0 genome.wustl.edu 37 7 82997142 82997142 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 82997142 82997142 A G SNP SEMA3E ENST00000307792 human ensembl 69_37n -1 known silent c.2088 p.C696 0.948 NULL pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3E HGNC ENSG00000170381 298 0 0.00 166 120 41.96 - - - SEMA4D 0 genome.wustl.edu 37 9 92002462 92002462 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 92002462 92002462 G A SNP SEMA4D ENST00000356444 human ensembl 69_37n -1 known missense c.1169 p.T390M 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4D HGNC ENSG00000187764 410 0 0.00 245 162 39.61 - - - SEMA4G 0 genome.wustl.edu 37 10 102740653 102740653 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 102740653 102740653 C T SNP SEMA4G ENST00000210633 human ensembl 69_37n +1 known silent c.1542 p.C514 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4G HGNC ENSG00000095539 92 0 0.00 55 33 37.50 - - - SEMG2 0 genome.wustl.edu 37 20 43850897 43850897 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 43850897 43850897 T C SNP SEMG2 ENST00000372769 human ensembl 69_37n +1 known silent c.624 p.R208 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 196 1 0.51 119 79 39.90 - - - SERPINB9 0 genome.wustl.edu 37 6 2892088 2892088 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 2892088 2892088 G A SNP SERPINB9 ENST00000380698 human ensembl 69_37n -1 known silent c.702 p.D234 0.020 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 50 0 0.00 19 13 40.62 - - - SETBP1 0 genome.wustl.edu 37 18 42532404 42532404 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 42532404 42532404 T - DEL SETBP1 ENST00000282030 human ensembl 69_37n +1 known frame_shift_del c.3099 p.L1035fs 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 160 0 0.00 102 52 33.55 - - - SEZ6L 0 genome.wustl.edu 37 22 26688396 26688396 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 26688396 26688396 G A SNP SEZ6L ENST00000248933 human ensembl 69_37n +1 known missense c.119 p.S40N 0.004 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 53 0 0.00 33 20 37.74 - - - SF3A1 0 genome.wustl.edu 37 22 30733834 30733834 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 30733834 30733834 C T SNP SF3A1 ENST00000215793 human ensembl 69_37n -1 known missense c.1796 p.R599Q 1.000 NULL pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 88 0 0.00 37 27 42.19 - - - SFSWAP 0 genome.wustl.edu 37 12 132203999 132203999 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 132203999 132203999 A - DEL SFSWAP ENST00000261674 human ensembl 69_37n +1 known frame_shift_del c.521 p.N176fs 0.931 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 208 0 0.00 171 75 30.24 - - - SGSH 0 genome.wustl.edu 37 17 78188916 78188916 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 78188916 78188916 G A SNP SGSH ENST00000326317 human ensembl 69_37n -1 known silent c.271 p.L91 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors SGSH HGNC ENSG00000181523 73 0 0.00 138 19 12.03 - - - SGSM1 0 genome.wustl.edu 37 22 25251362 25251362 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 25251362 25251362 C T SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.634 p.R212W 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 40 0 0.00 24 14 36.84 - - - SH2D2A 0 genome.wustl.edu 37 1 156786539 156786539 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 156786539 156786539 G A SNP SH2D2A ENST00000495306 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SH2D2A HGNC ENSG00000027869 270 1 0.37 527 85 13.84 - - - SH3GL1P1 0 genome.wustl.edu 37 17 30368135 30368135 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 30368135 30368135 T C SNP SH3GL1P1 ENST00000579186 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SH3GL1P1 HGNC ENSG00000266777 37 0 0.00 26 7 21.21 - - - SHANK2 0 genome.wustl.edu 37 11 70742676 70742676 + Splice_Site SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 70742676 70742676 C T SNP SHANK2 ENST00000338508 human ensembl 69_37n -1 known splice_site c.1108-1 e17-1 0.156 - - - no_errors SHANK2 HGNC ENSG00000162105 564 0 0.00 366 243 39.90 - - - SHC1 0 genome.wustl.edu 37 1 154938890 154938890 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 154938890 154938890 C - DEL SHC1 ENST00000448116 human ensembl 69_37n -1 known frame_shift_del c.1087 p.V363fs 0.930 NULL pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 94 0 0.00 166 22 11.40 - - - SHKBP1 0 genome.wustl.edu 37 19 41084069 41084069 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 41084069 41084069 C T SNP SHKBP1 ENST00000291842 human ensembl 69_37n +1 known silent c.270 p.H90 0.903 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 150 0 0.00 100 50 33.11 - - - SHROOM2 0 genome.wustl.edu 37 X 9863012 9863012 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 9863012 9863012 C T SNP SHROOM2 ENST00000380913 human ensembl 69_37n +1 known missense c.1064 p.A355V 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 41 0 0.00 15 12 44.44 - - - SHROOM2 0 genome.wustl.edu 37 X 9900561 9900561 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 9900561 9900561 G T SNP SHROOM2 ENST00000380913 human ensembl 69_37n +1 known missense c.3238 p.G1080C 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 47 0 0.00 40 22 35.48 - - - SI 0 genome.wustl.edu 37 3 164739039 164739039 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 164739039 164739039 G A SNP SI ENST00000264382 human ensembl 69_37n -1 known missense c.3232 p.R1078W 0.768 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 370 0 0.00 255 121 32.18 - - - SIGLEC6 0 genome.wustl.edu 37 19 52033147 52033148 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 52033147 52033148 - G INS SIGLEC6 ENST00000425629 human ensembl 69_37n -1 known frame_shift_ins c.843_842 p.A282fs 0.979:0.995 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC6 HGNC ENSG00000105492 365 0 0.00 272 113 29.35 - - - SIPA1L2 0 genome.wustl.edu 37 1 232568108 232568108 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 232568108 232568108 C A SNP SIPA1L2 ENST00000262861 human ensembl 69_37n -1 known missense c.4141 p.G1381W 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 321 0 0.00 706 142 16.73 - - - SIPA1L2 0 genome.wustl.edu 37 1 232601164 232601164 + Splice_Site SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 232601164 232601164 T C SNP SIPA1L2 ENST00000262861 human ensembl 69_37n -1 known splice_site c.2244-2 e7-2 0.999 - - - no_errors SIPA1L2 HGNC ENSG00000116991 73 0 0.00 119 21 15.00 - - - SIRPD 0 genome.wustl.edu 37 20 1515074 1515074 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 1515074 1515074 T A SNP SIRPD ENST00000381621 human ensembl 69_37n -1 known missense c.594 p.K198N 0.022 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SIRPD HGNC ENSG00000125900 360 0 0.00 232 136 36.96 - - - SIRPG 0 genome.wustl.edu 37 20 1611081 1611081 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 1611081 1611081 A G SNP SIRPG ENST00000497407 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors SIRPG HGNC ENSG00000089012 35 0 0.00 23 13 36.11 - - - SKIDA1 0 genome.wustl.edu 37 10 21804099 21804099 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 21804099 21804099 T C SNP SKIDA1 ENST00000449193 human ensembl 69_37n -1 known missense c.2653 p.I885V 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 145 0 0.00 116 74 38.95 - - - SKOR1 0 genome.wustl.edu 37 15 68119168 68119168 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 68119168 68119168 C T SNP SKOR1 ENST00000380035 human ensembl 69_37n +1 known silent c.1002 p.A334 0.003 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 11 0 0.00 8 5 38.46 - - - SLAMF6 0 genome.wustl.edu 37 1 160458909 160458909 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 160458909 160458909 G T SNP SLAMF6 ENST00000368057 human ensembl 69_37n -1 known missense c.848 p.T283N 0.848 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SLAMF6 HGNC ENSG00000162739 342 0 0.00 644 142 18.07 - - - SLC12A2 0 genome.wustl.edu 37 5 127507374 127507374 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 127507374 127507374 A G SNP SLC12A2 ENST00000262461 human ensembl 69_37n +1 known missense c.2739 p.I913M 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 204 0 0.00 130 93 41.70 - - - SLC16A10 0 genome.wustl.edu 37 6 111498537 111498537 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 111498537 111498537 G A SNP SLC16A10 ENST00000368851 human ensembl 69_37n +1 known missense c.611 p.G204D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 295 0 0.00 238 106 30.72 - - - SLC16A3 0 genome.wustl.edu 37 17 80195570 80195570 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 80195570 80195570 G A SNP SLC16A3 ENST00000392339 human ensembl 69_37n +1 known silent c.924 p.A308 0.051 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 98 0 0.00 224 49 17.88 - - - SLC1A3 0 genome.wustl.edu 37 5 36677049 36677049 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 36677049 36677049 C T SNP SLC1A3 ENST00000265113 human ensembl 69_37n +1 known missense c.623 p.T208M 0.995 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 259 0 0.00 136 115 45.82 - - - SLC1A7 0 genome.wustl.edu 37 1 53608111 53608111 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 53608111 53608111 T C SNP SLC1A7 ENST00000371494 human ensembl 69_37n -1 known missense c.11 p.H4R 0.204 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 77 0 0.00 58 26 30.95 - - - SLC20A2 0 genome.wustl.edu 37 8 42294888 42294888 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 42294888 42294888 C T SNP SLC20A2 ENST00000342228 human ensembl 69_37n -1 known missense c.1142 p.R381H 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 115 0 0.00 62 43 40.57 - - - SLC22A17 0 genome.wustl.edu 37 14 23816858 23816858 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 23816858 23816858 G A SNP SLC22A17 ENST00000206544 human ensembl 69_37n -1 known silent c.1027 p.L343 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 73 0 0.00 48 28 36.84 - - - SLC22A7 0 genome.wustl.edu 37 6 43268964 43268964 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 43268964 43268964 C T SNP SLC22A7 ENST00000372585 human ensembl 69_37n +1 known missense c.919 p.R307W 0.084 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 688 1 0.14 386 247 38.96 - - - SLC23A2 0 genome.wustl.edu 37 20 4837735 4837735 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 4837735 4837735 T - DEL SLC23A2 ENST00000338244 human ensembl 69_37n -1 known frame_shift_del c.1836 p.K612fs 0.948 NULL pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 418 0 0.00 252 127 33.07 - - - SLC23A2 0 genome.wustl.edu 37 20 4855308 4855308 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 4855308 4855308 C T SNP SLC23A2 ENST00000338244 human ensembl 69_37n -1 known missense c.859 p.A287T 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 260 0 0.00 191 98 33.91 - - - SLC24A1 0 genome.wustl.edu 37 15 65917242 65917242 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 65917242 65917242 T C SNP SLC24A1 ENST00000261892 human ensembl 69_37n +1 known missense c.824 p.V275A 0.000 tigrfam_K-dep_Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A1 HGNC ENSG00000074621 111 0 0.00 82 42 33.60 - - - SLC25A10 0 genome.wustl.edu 37 17 79681982 79681982 + Splice_Site SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 79681982 79681982 G T SNP SLC25A10 ENST00000331531 human ensembl 69_37n +1 known splice_site c.94-1 e2-1 1.000 - - - no_errors SLC25A10 HGNC ENSG00000183048 26 0 0.00 44 16 26.67 - - - SLC2A10 0 genome.wustl.edu 37 20 45353856 45353856 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 45353856 45353856 G A SNP SLC2A10 ENST00000359271 human ensembl 69_37n +1 known missense c.181 p.A61T 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 228 0 0.00 148 80 34.48 - - - SLC35F1 0 genome.wustl.edu 37 6 118596758 118596759 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 118596758 118596759 - T INS SLC35F1 ENST00000360388 human ensembl 69_37n +1 known frame_shift_ins c.774_775 p.S260fs 0.998:1.000 pfam_DUF914_euk,pfam_DMT pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 229 0 0.00 164 106 39.26 - - - SLC36A2 0 genome.wustl.edu 37 5 150696581 150696581 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 150696581 150696581 C T SNP SLC36A2 ENST00000335244 human ensembl 69_37n -1 known missense c.1249 p.A417T 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 209 1 0.48 109 76 39.79 - - - SLC37A2 0 genome.wustl.edu 37 11 124949079 124949079 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 124949079 124949079 C T SNP SLC37A2 ENST00000308074 human ensembl 69_37n +1 known missense c.386 p.T129I 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 249 0 0.00 172 106 38.13 - - - SLC37A2 0 genome.wustl.edu 37 11 124949085 124949085 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 124949085 124949085 T A SNP SLC37A2 ENST00000308074 human ensembl 69_37n +1 known missense c.392 p.L131H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 261 0 0.00 172 107 38.21 - - - SLC38A1 0 genome.wustl.edu 37 12 46599925 46599925 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 46599925 46599925 C T SNP SLC38A1 ENST00000398637 human ensembl 69_37n -1 known missense c.584 p.R195H 0.976 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 192 0 0.00 125 62 33.16 - - - SLC38A4 0 genome.wustl.edu 37 12 47178890 47178890 + Nonsense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 47178890 47178890 C A SNP SLC38A4 ENST00000266579 human ensembl 69_37n -1 known nonsense c.397 p.G133* 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 479 0 0.00 295 172 36.75 - - - SLC39A1 0 genome.wustl.edu 37 1 153935178 153935178 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 153935178 153935178 C - DEL SLC39A1 ENST00000310483 human ensembl 69_37n -1 known frame_shift_del c.14 p.G5fs 0.989 NULL pfam_ZIP - no_errors SLC39A1 HGNC ENSG00000143570 62 0 0.00 86 15 14.56 - - - SLC44A1 0 genome.wustl.edu 37 9 108061534 108061534 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 108061534 108061534 C T SNP SLC44A1 ENST00000374720 human ensembl 69_37n +1 known missense c.70 p.R24C 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 169 0 0.00 127 59 31.72 - - - SLC45A4 0 genome.wustl.edu 37 8 142229023 142229023 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 142229023 142229023 G A SNP SLC45A4 ENST00000517878 human ensembl 69_37n -1 known missense c.716 p.A239V 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 70 0 0.00 60 21 25.93 - - - SLC4A2 0 genome.wustl.edu 37 7 150772561 150772561 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 150772561 150772561 G A SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known silent c.3267 p.Q1089 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 238 0 0.00 141 99 41.25 - - - SLC4A3 0 genome.wustl.edu 37 2 220494034 220494035 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 220494034 220494035 - G INS SLC4A3 ENST00000273063 human ensembl 69_37n +1 known frame_shift_ins c.386_387 p.A132fs 1.000:1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 80 0 0.00 58 26 30.95 - - - SLC4A8 0 genome.wustl.edu 37 12 51857480 51857480 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 51857480 51857480 A T SNP SLC4A8 ENST00000453097 human ensembl 69_37n +1 known missense c.1331 p.E444V 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 242 0 0.00 161 113 41.09 - - - SLC6A17 0 genome.wustl.edu 37 1 110709700 110709700 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 110709700 110709700 C T SNP SLC6A17 ENST00000331565 human ensembl 69_37n +1 known missense c.149 p.A50V 0.233 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 197 0 0.00 103 93 46.50 - - - SLC7A7 0 genome.wustl.edu 37 14 23249244 23249244 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 23249244 23249244 A - DEL SLC7A7 ENST00000285850 human ensembl 69_37n -1 known frame_shift_del c.516 p.N173fs 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 189 0 0.00 134 74 35.24 - - - SLC7A8 0 genome.wustl.edu 37 14 23608665 23608665 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 23608665 23608665 G - DEL SLC7A8 ENST00000316902 human ensembl 69_37n -1 known frame_shift_del c.880 p.Q294fs 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A8 HGNC ENSG00000092068 208 0 0.00 156 89 35.32 - - - SLC8A1 0 genome.wustl.edu 37 2 40405624 40405624 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 40405624 40405624 T C SNP SLC8A1 ENST00000332839 human ensembl 69_37n -1 known missense c.1818 p.I606M 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 488 0 0.00 308 167 35.16 - - - SLC8A2 0 genome.wustl.edu 37 19 47960697 47960697 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 47960697 47960697 G - DEL SLC8A2 ENST00000236877 human ensembl 69_37n -1 known frame_shift_del c.830 p.P277fs 1.000 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 31 0 0.00 17 9 34.62 - - - SLC9A8 0 genome.wustl.edu 37 20 48491322 48491322 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 48491322 48491322 A G SNP SLC9A8 ENST00000417961 human ensembl 69_37n +1 known missense c.1087 p.M363V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 671 1 0.15 403 221 35.30 - - - SLFN13 0 genome.wustl.edu 37 17 33767699 33767699 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 33767699 33767699 G A SNP SLFN13 ENST00000285013 human ensembl 69_37n -1 known missense c.2609 p.P870L 0.014 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN13 HGNC ENSG00000154760 378 0 0.00 93 141 60.26 - - - SLITRK1 0 genome.wustl.edu 37 13 84453605 84453605 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 84453605 84453605 C T SNP SLITRK1 ENST00000377084 human ensembl 69_37n -1 known missense c.2038 p.A680T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 137 1 0.72 87 26 23.01 - - - SMARCA4 0 genome.wustl.edu 37 19 11118633 11118635 + In_Frame_Del DEL AGA AGA - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 11118633 11118635 AGA - DEL SMARCA4 ENST00000358026 human ensembl 69_37n +1 known in_frame_del c.2057_2059 p.K689in_frame_del 1.000:0.994:1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 161 0 0.00 58 100 62.11 - - - SMARCAD1 0 genome.wustl.edu 37 4 95173838 95173838 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 95173838 95173838 A - DEL SMARCAD1 ENST00000359052 human ensembl 69_37n +1 known frame_shift_del c.961 p.N322fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 93 0 0.00 55 33 36.67 - - - SMARCAD1 0 genome.wustl.edu 37 4 95173909 95173910 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 95173909 95173910 - A INS SMARCAD1 ENST00000359052 human ensembl 69_37n +1 known frame_shift_ins c.1032_1033 p.N346fs 0.996:1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 132 1 0.75 101 41 28.87 - - - SMC1A 0 genome.wustl.edu 37 X 53409065 53409065 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 53409065 53409065 C T SNP SMC1A ENST00000469129 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SMC1A HGNC ENSG00000072501 33 0 0.00 15 10 40.00 - - - SMC1A 0 genome.wustl.edu 37 X 53409442 53409442 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 53409442 53409442 G A SNP SMC1A ENST00000322213 human ensembl 69_37n -1 known silent c.3270 p.R1090 0.947 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 153 0 0.00 112 79 41.36 - - - SMC4 0 genome.wustl.edu 37 3 160146629 160146629 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 160146629 160146629 A G SNP SMC4 ENST00000344722 human ensembl 69_37n +1 known silent c.2694 p.K898 1.000 pfam_RecF/RecN/SMC,superfamily_Prefoldin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 301 1 0.33 214 113 34.56 - - - SMC6 0 genome.wustl.edu 37 2 17881629 17881629 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 17881629 17881629 T C SNP SMC6 ENST00000381272 human ensembl 69_37n -1 known missense c.2318 p.E773G 1.000 NULL NULL - no_errors SMC6 HGNC ENSG00000163029 549 0 0.00 492 94 15.99 - - - SMR3A 0 genome.wustl.edu 37 4 71232426 71232426 + Silent SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 71232426 71232426 A T SNP SMR3A ENST00000226460 human ensembl 69_37n +1 known silent c.120 p.P40 0.003 NULL NULL - no_errors SMR3A HGNC ENSG00000109208 259 0 0.00 195 106 35.10 - - - SMTN 0 genome.wustl.edu 37 22 31496909 31496909 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 31496909 31496909 A G SNP SMTN ENST00000333137 human ensembl 69_37n +1 known missense c.2642 p.D881G 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 45 0 0.00 27 15 35.71 - - - SMTN 0 genome.wustl.edu 37 22 31500430 31500430 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 31500430 31500430 G A SNP SMTN ENST00000347557 human ensembl 69_37n +1 known missense c.2732 p.R911H 1.000 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 86 0 0.00 53 25 31.65 - - - SNAPC1 0 genome.wustl.edu 37 14 62245578 62245578 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 62245578 62245578 G A SNP SNAPC1 ENST00000216294 human ensembl 69_37n +1 known missense c.775 p.A259T 1.000 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 209 0 0.00 151 116 43.45 - - - SNAPC4 0 genome.wustl.edu 37 9 139275774 139275774 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 139275774 139275774 C A SNP SNAPC4 ENST00000298532 human ensembl 69_37n -1 known missense c.2388 p.Q796H 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 41 0 0.00 23 12 34.29 - - - SNAPC4 0 genome.wustl.edu 37 9 139277851 139277851 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 139277851 139277851 C T SNP SNAPC4 ENST00000298532 human ensembl 69_37n -1 known nonsense c.1770 p.W590* 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 17 0 0.00 3 13 81.25 - - - SNORA3 0 genome.wustl.edu 37 11 8705820 8705820 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 8705820 8705820 C T SNP SNORA3 ENST00000364113 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SNORA3 HGNC ENSG00000200983 22 0 0.00 13 8 38.10 - - - SNORD20 0 genome.wustl.edu 37 2 232321172 232321172 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 232321172 232321172 T C SNP SNORD20 ENST00000384550 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SNORD20 HGNC ENSG00000207280 14 0 0.00 5 4 44.44 - - - SNX21 0 genome.wustl.edu 37 20 44469004 44469004 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 44469004 44469004 A - DEL SNX21 ENST00000465997 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC ENSG00000124104 165 0 0.00 139 49 25.26 - - - SOHLH2 0 genome.wustl.edu 37 13 36776201 36776201 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 36776201 36776201 A G SNP SOHLH2 ENST00000554962 human ensembl 69_37n -1 known silent c.309 p.D103 0.999 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SOHLH2 HGNC ENSG00000120669 143 1 0.69 93 57 38.00 - - - SORCS3 0 genome.wustl.edu 37 10 107012633 107012633 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 107012633 107012633 G T SNP SORCS3 ENST00000369701 human ensembl 69_37n +1 known missense c.3206 p.R1069M 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 356 0 0.00 337 139 29.20 - - - SORL1 0 genome.wustl.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 121475905 121475905 A - DEL SORL1 ENST00000260197 human ensembl 69_37n +1 known frame_shift_del c.4735 p.M1581fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 350 0 0.00 256 135 33.92 - - - SOX10 0 genome.wustl.edu 37 22 38369999 38369999 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 38369999 38369999 G A SNP SOX10 ENST00000360880 human ensembl 69_37n -1 known missense c.904 p.P302S 1.000 NULL pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX10 HGNC ENSG00000100146 88 0 0.00 80 31 27.93 - - - SOX13 0 genome.wustl.edu 37 1 204091056 204091056 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 204091056 204091056 C - DEL SOX13 ENST00000367204 human ensembl 69_37n +1 known frame_shift_del c.804 p.P270fs 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX13 HGNC ENSG00000143842 157 0 0.00 274 50 15.06 - - - SP100 0 genome.wustl.edu 37 2 231379990 231379990 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 231379990 231379990 A - DEL SP100 ENST00000264052 human ensembl 69_37n +1 known frame_shift_del c.2275 p.K761fs 1.000 superfamily_HMG_superfamily pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily - no_errors SP100 HGNC ENSG00000067066 318 1 0.31 210 100 31.85 - - - SP100 0 genome.wustl.edu 37 2 231380093 231380093 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 231380093 231380093 G A SNP SP100 ENST00000264052 human ensembl 69_37n +1 known missense c.2378 p.G793D 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily - no_errors SP100 HGNC ENSG00000067066 191 1 0.52 111 69 38.33 - - - SPDYE3 0 genome.wustl.edu 37 7 99912208 99912208 + Silent SNP A A C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 99912208 99912208 A C SNP SPDYE3 ENST00000332397 human ensembl 69_37n +1 known silent c.1036 p.R346 0.036 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 172 0 0.00 44 127 73.84 - - - SPG11 0 genome.wustl.edu 37 15 44898236 44898236 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 44898236 44898236 T C SNP SPG11 ENST00000559754 human ensembl 69_37n -1 putative missense c.236 p.H79R 0.750 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPG11 HGNC ENSG00000104133 218 0 0.00 156 94 37.60 - - - SPG7 0 genome.wustl.edu 37 16 89598370 89598371 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 89598370 89598371 - C INS SPG7 ENST00000268704 human ensembl 69_37n +1 known frame_shift_ins c.1046_1047 p.G352fs 1.000:0.002 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 146 0 0.00 96 35 26.72 - - - SPI1 0 genome.wustl.edu 37 11 47399861 47399861 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 47399861 47399861 G - DEL SPI1 ENST00000227163 human ensembl 69_37n -1 known frame_shift_del c.44 p.P15fs 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPI1 HGNC ENSG00000066336 112 0 0.00 64 38 35.85 - - - SPINK2 0 genome.wustl.edu 37 4 57686740 57686740 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 57686740 57686740 G T SNP SPINK2 ENST00000248701 human ensembl 69_37n -1 known missense c.61 p.L21M 0.000 NULL pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal - no_errors SPINK2 HGNC ENSG00000128040 346 0 0.00 204 146 41.71 - - - SPOCK2 0 genome.wustl.edu 37 10 73827373 73827373 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 73827373 73827373 C T SNP SPOCK2 ENST00000317376 human ensembl 69_37n -1 known missense c.707 p.S236N 0.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK2 HGNC ENSG00000107742 79 0 0.00 53 37 41.11 - - - SPRR1A 0 genome.wustl.edu 37 1 152957715 152957715 + Silent SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 152957715 152957715 T A SNP SPRR1A ENST00000307122 human ensembl 69_37n +1 known silent c.9 p.S3 0.990 NULL pfam_Cornifin - no_errors SPRR1A HGNC ENSG00000169474 244 0 0.00 412 95 18.66 - - - SPRYD3 0 genome.wustl.edu 37 12 53460125 53460125 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 53460125 53460125 C T SNP SPRYD3 ENST00000547257 human ensembl 69_37n -1 known missense c.19 p.A7T 0.992 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPRYD3 HGNC ENSG00000167778 1049 3 0.29 595 369 38.28 - - - SPTA1 0 genome.wustl.edu 37 1 158644189 158644189 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 158644189 158644189 T C SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.1280 p.Q427R 0.388 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 287 1 0.35 476 111 18.91 - - - SPTB 0 genome.wustl.edu 37 14 65260252 65260252 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 65260252 65260252 C T SNP SPTB ENST00000389722 human ensembl 69_37n -1 known missense c.2129 p.G710E 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 68 0 0.00 49 23 31.94 - - - SPTBN2 0 genome.wustl.edu 37 11 66460468 66460468 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 66460468 66460468 T C SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known missense c.4958 p.D1653G 0.977 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 68 0 0.00 57 28 32.94 - - - SPTLC1 0 genome.wustl.edu 37 9 94843197 94843197 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 94843197 94843197 G A SNP SPTLC1 ENST00000262554 human ensembl 69_37n -1 known silent c.309 p.F103 0.993 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC ENSG00000090054 436 1 0.23 295 138 31.87 - - - SRCAP 0 genome.wustl.edu 37 16 30736371 30736371 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 30736371 30736371 C - DEL SRCAP ENST00000262518 human ensembl 69_37n +1 known frame_shift_del c.5626 p.P1878fs 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 46 0 0.00 38 16 29.63 - - - SRPK2 0 genome.wustl.edu 37 7 104801039 104801039 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 104801039 104801039 A G SNP SRPK2 ENST00000393651 human ensembl 69_37n -1 known missense c.536 p.V179A 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 SRPK2 HGNC ENSG00000135250 359 0 0.00 250 108 30.17 - - - SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 69_37n -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 1203 3 0.25 758 355 30.90 - - - SSH1 0 genome.wustl.edu 37 12 109182841 109182841 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 109182841 109182841 C A SNP SSH1 ENST00000326495 human ensembl 69_37n -1 known silent c.2073 p.V691 0.024 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 78 0 0.00 60 41 40.59 - - - SSH3 0 genome.wustl.edu 37 11 67072316 67072316 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 67072316 67072316 G T SNP SSH3 ENST00000308127 human ensembl 69_37n +1 known missense c.177 p.E59D 0.015 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 115 0 0.00 67 31 31.63 - - - SSTR4 0 genome.wustl.edu 37 20 23016519 23016519 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 23016519 23016519 C T SNP SSTR4 ENST00000255008 human ensembl 69_37n +1 known silent c.399 p.S133 0.998 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_NPY_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 113 0 0.00 58 24 29.27 - - - ST6GALNAC1 0 genome.wustl.edu 37 17 74623564 74623564 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 74623564 74623564 G A SNP ST6GALNAC1 ENST00000156626 human ensembl 69_37n -1 known silent c.933 p.N311 0.936 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 199 0 0.00 380 62 14.00 - - - ST6GALNAC3 0 genome.wustl.edu 37 1 76779584 76779584 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 76779584 76779584 A G SNP ST6GALNAC3 ENST00000328299 human ensembl 69_37n +1 known missense c.113 p.N38S 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 551 0 0.00 362 244 40.26 - - - ST7 0 genome.wustl.edu 37 7 116776248 116776248 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 116776248 116776248 A G SNP ST7 ENST00000265437 human ensembl 69_37n +1 known missense c.824 p.Q275R 1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 212 0 0.00 138 86 38.39 - - - STC1 0 genome.wustl.edu 37 8 23708938 23708938 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 23708938 23708938 T C SNP STC1 ENST00000290271 human ensembl 69_37n -1 known missense c.368 p.E123G 1.000 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC1 HGNC ENSG00000159167 330 1 0.30 241 126 34.33 - - - STK11IP 0 genome.wustl.edu 37 2 220473024 220473024 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 220473024 220473024 C T SNP STK11IP ENST00000456909 human ensembl 69_37n +1 novel missense c.1475 p.A492V 0.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 42 0 0.00 23 20 44.44 - - - STK16 0 genome.wustl.edu 37 2 220111841 220111841 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 220111841 220111841 A G SNP STK16 ENST00000396738 human ensembl 69_37n +1 known missense c.313 p.T105A 0.990 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 STK16 HGNC ENSG00000115661 247 0 0.00 159 100 38.61 - - - STK32C 0 genome.wustl.edu 37 10 134038860 134038860 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 134038860 134038860 A - DEL STK32C ENST00000478542 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors STK32C HGNC ENSG00000165752 64 0 0.00 43 18 29.03 - - - STK32C 0 genome.wustl.edu 37 10 134040317 134040317 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 134040317 134040317 C T SNP STK32C ENST00000368625 human ensembl 69_37n -1 known missense c.665 p.G222D 0.057 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 STK32C HGNC ENSG00000165752 72 0 0.00 47 21 30.43 - - - STK33 0 genome.wustl.edu 37 11 8413872 8413872 + RNA SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 8413872 8413872 T C SNP STK33 ENST00000473980 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors STK33 HGNC ENSG00000130413 47 0 0.00 25 15 37.50 - - - STPG1 0 genome.wustl.edu 37 1 24727703 24727703 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 24727703 24727703 G A SNP STPG1 ENST00000475760 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors STPG1 HGNC ENSG00000001460 147 0 0.00 103 71 40.80 - - - STXBP1 0 genome.wustl.edu 37 9 130440790 130440790 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 130440790 130440790 G A SNP STXBP1 ENST00000373299 human ensembl 69_37n +1 known silent c.1440 p.P480 0.001 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 94 0 0.00 74 36 32.73 - - - SULT1C3 0 genome.wustl.edu 37 2 108881321 108881321 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 108881321 108881321 A - DEL SULT1C3 ENST00000329106 human ensembl 69_37n +1 known frame_shift_del c.662 p.D223fs 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1C3 HGNC ENSG00000196228 219 0 0.00 160 80 33.06 - - - SUPT6H 0 genome.wustl.edu 37 17 27018009 27018009 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 27018009 27018009 G A SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known silent c.3561 p.A1187 0.374 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 207 1 0.48 234 82 25.87 - - - SUSD2 0 genome.wustl.edu 37 22 24582000 24582000 + Missense_Mutation SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 24582000 24582000 C G SNP SUSD2 ENST00000358321 human ensembl 69_37n +1 known missense c.1356 p.D452E 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 27 0 0.00 21 6 22.22 - - - SUV420H1 0 genome.wustl.edu 37 11 67925677 67925677 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 67925677 67925677 G T SNP SUV420H1 ENST00000304363 human ensembl 69_37n -1 known missense c.2136 p.N712K 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 453 0 0.00 315 143 31.22 - - - SYNE3 0 genome.wustl.edu 37 14 95884327 95884327 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 95884327 95884327 T C SNP SYNE3 ENST00000334258 human ensembl 69_37n -1 known missense c.2764 p.R922G 0.473 pfam_KASH,pfscan_KASH pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 66 0 0.00 38 31 44.93 - - - SYNJ2 0 genome.wustl.edu 37 6 158516726 158516726 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 158516726 158516726 C - DEL SYNJ2 ENST00000355585 human ensembl 69_37n +1 known frame_shift_del c.3821 p.P1275fs 0.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 130 0 0.00 85 47 34.56 - - - SYT3 0 genome.wustl.edu 37 19 51128491 51128491 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 51128491 51128491 G A SNP SYT3 ENST00000338916 human ensembl 69_37n -1 known silent c.1635 p.H545 0.996 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC ENSG00000213023 31 0 0.00 21 10 31.25 - - - SYT9 0 genome.wustl.edu 37 11 7441852 7441852 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 7441852 7441852 C T SNP SYT9 ENST00000318881 human ensembl 69_37n +1 known missense c.1453 p.H485Y 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 262 0 0.00 206 125 37.31 - - - SYTL2 0 genome.wustl.edu 37 11 85420387 85420388 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 85420387 85420388 - T INS SYTL2 ENST00000359152 human ensembl 69_37n -1 known frame_shift_ins c.4525_4524 p.Q1508fs 1.000:1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 129 0 0.00 96 59 38.06 - - - TAAR2 0 genome.wustl.edu 37 6 132945414 132945414 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 132945414 132945414 T C SNP TAAR2 ENST00000367931 human ensembl 69_37n -1 known missense c.1 p.M1V 0.001 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR2 HGNC ENSG00000146378 426 1 0.23 316 149 31.97 - - - TACC2 0 genome.wustl.edu 37 10 123847394 123847394 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 123847394 123847394 C T SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known silent c.5379 p.C1793 0.005 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 22 0 0.00 21 17 44.74 - - - TADA1 0 genome.wustl.edu 37 1 166838699 166838699 + Missense_Mutation SNP A A C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 166838699 166838699 A C SNP TADA1 ENST00000367874 human ensembl 69_37n -1 known missense c.215 p.I72S 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 245 0 0.00 471 100 17.51 - - - TAF1A 0 genome.wustl.edu 37 1 222743947 222743947 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 222743947 222743947 G A SNP TAF1A ENST00000350027 human ensembl 69_37n -1 known missense c.665 p.T222I 0.993 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 147 0 0.00 356 78 17.97 - - - TAF1L 0 genome.wustl.edu 37 9 32633699 32633699 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 32633699 32633699 C T SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.1879 p.G627R 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 381 0 0.00 237 148 38.44 - - - TAF5L 0 genome.wustl.edu 37 1 229738112 229738112 + Nonsense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 229738112 229738112 C A SNP TAF5L ENST00000258281 human ensembl 69_37n -1 known nonsense c.802 p.E268* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5L HGNC ENSG00000135801 170 0 0.00 322 72 18.23 - - - TAF5L 0 genome.wustl.edu 37 1 229750174 229750174 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 229750174 229750174 C T SNP TAF5L ENST00000258281 human ensembl 69_37n -1 known missense c.56 p.R19H 1.000 NULL pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5L HGNC ENSG00000135801 218 0 0.00 408 82 16.73 - - - TAGLN 0 genome.wustl.edu 37 11 117075065 117075065 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 117075065 117075065 T C SNP TAGLN ENST00000392951 human ensembl 69_37n +1 known missense c.596 p.I199T 1.000 pfam_Calponin_repeat,pfscan_Calponin_repeat pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Transgelin - no_errors TAGLN HGNC ENSG00000149591 89 0 0.00 62 33 34.74 - - - TAOK2 0 genome.wustl.edu 37 16 29992997 29992997 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 29992997 29992997 C T SNP TAOK2 ENST00000308893 human ensembl 69_37n +1 known missense c.671 p.P224L 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 TAOK2 HGNC ENSG00000149930 468 0 0.00 316 190 37.55 - - - TARBP1 0 genome.wustl.edu 37 1 234556530 234556530 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 234556530 234556530 C T SNP TARBP1 ENST00000040877 human ensembl 69_37n -1 known missense c.3473 p.R1158H 0.842 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 361 0 0.00 690 132 16.06 - - - TBC1D22B 0 genome.wustl.edu 37 6 37298829 37298829 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 37298829 37298829 A G SNP TBC1D22B ENST00000373491 human ensembl 69_37n +1 known missense c.1399 p.M467V 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 250 1 0.40 188 101 34.95 - - - TBC1D4 0 genome.wustl.edu 37 13 75923344 75923344 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 75923344 75923344 G C SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known missense c.1370 p.P457R 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 61 0 0.00 72 32 30.77 - - - TBCE 0 genome.wustl.edu 37 1 235600767 235600767 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 235600767 235600767 T C SNP TBCE ENST00000543662 human ensembl 69_37n +1 known missense c.1247 p.L416P 1.000 NULL pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCE HGNC ENSG00000116957 209 0 0.00 356 72 16.82 - - - TBCK 0 genome.wustl.edu 37 4 107092364 107092364 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 107092364 107092364 G A SNP TBCK ENST00000273980 human ensembl 69_37n -1 known missense c.2123 p.A708V 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 319 0 0.00 240 172 41.75 - - - TBX1 0 genome.wustl.edu 37 22 19751741 19751741 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 19751741 19751741 C T SNP TBX1 ENST00000329705 human ensembl 69_37n +1 known silent c.576 p.R192 0.076 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 19 0 0.00 15 9 37.50 - - - TBX15 0 genome.wustl.edu 37 1 119441696 119441696 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 119441696 119441696 G A SNP TBX15 ENST00000369429 human ensembl 69_37n -1 known missense c.979 p.R327C 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 420 2 0.47 324 183 36.09 - - - TCF20 0 genome.wustl.edu 37 22 42564716 42564716 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 42564716 42564716 G - DEL TCF20 ENST00000359486 human ensembl 69_37n -1 known frame_shift_del c.5826 p.L1943fs 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 174 0 0.00 135 61 30.50 - - - TCP11L2 0 genome.wustl.edu 37 12 106715444 106715444 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 106715444 106715444 A G SNP TCP11L2 ENST00000299045 human ensembl 69_37n +1 known missense c.595 p.R199G 0.992 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 327 0 0.00 233 149 38.90 - - - TDG 0 genome.wustl.edu 37 12 104379425 104379425 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 104379425 104379425 G A SNP TDG ENST00000392872 human ensembl 69_37n +1 known missense c.1009 p.G337S 1.000 NULL pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase - no_errors TDG HGNC ENSG00000139372 588 0 0.00 423 184 30.31 - - - TDRD1 0 genome.wustl.edu 37 10 115973857 115973857 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 115973857 115973857 T C SNP TDRD1 ENST00000251864 human ensembl 69_37n +1 known silent c.2196 p.H732 0.094 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 895 1 0.11 618 307 33.15 - - - TEAD1 0 genome.wustl.edu 37 11 12901337 12901337 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 12901337 12901337 A T SNP TEAD1 ENST00000361905 human ensembl 69_37n +1 known missense c.368 p.N123I 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 53 0 0.00 33 18 35.29 - - - TECPR1 0 genome.wustl.edu 37 7 97851805 97851805 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 97851805 97851805 T C SNP TECPR1 ENST00000379795 human ensembl 69_37n -1 known missense c.2963 p.D988G 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 41 0 0.00 20 13 39.39 - - - TERF2IP 0 genome.wustl.edu 37 16 75690320 75690320 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 75690320 75690320 A - DEL TERF2IP ENST00000300086 human ensembl 69_37n +1 putative frame_shift_del c.1011 p.N339fs 0.723 NULL pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom - no_errors TERF2IP HGNC ENSG00000166848 155 0 0.00 144 59 28.50 - - - TET2 0 genome.wustl.edu 37 4 106196445 106196445 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 106196445 106196445 G A SNP TET2 ENST00000380013 human ensembl 69_37n +1 known missense c.4778 p.S1593N 0.106 NULL NULL - no_errors TET2 HGNC ENSG00000168769 270 0 0.00 174 149 46.13 - - - TFG 0 genome.wustl.edu 37 3 100432553 100432553 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 100432553 100432553 T C SNP TFG ENST00000240851 human ensembl 69_37n +1 known silent c.24 p.S8 1.000 NULL pfam_OPR_PB1,smart_OPR_PB1 - no_errors TFG HGNC ENSG00000114354 160 1 0.62 127 86 40.38 - - - THEG 0 genome.wustl.edu 37 19 375704 375704 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 375704 375704 T C SNP THEG ENST00000342640 human ensembl 69_37n -1 known silent c.267 p.R89 0.013 NULL smart_THEG - no_errors THEG HGNC ENSG00000105549 132 0 0.00 91 43 32.09 - - - THEG 0 genome.wustl.edu 37 19 375710 375710 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 375710 375710 C T SNP THEG ENST00000342640 human ensembl 69_37n -1 known silent c.261 p.L87 0.005 NULL smart_THEG - no_errors THEG HGNC ENSG00000105549 131 0 0.00 96 46 32.39 - - - THSD7A 0 genome.wustl.edu 37 7 11418873 11418873 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 11418873 11418873 T C SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known missense c.4625 p.E1542G 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 285 0 0.00 176 105 37.23 - - - THSD7A 0 genome.wustl.edu 37 7 11501712 11501712 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 11501712 11501712 G A SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known silent c.2427 p.N809 0.701 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 240 0 0.00 154 87 35.95 - - - TKTL1 0 genome.wustl.edu 37 X 153553734 153553734 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 153553734 153553734 C A SNP TKTL1 ENST00000369915 human ensembl 69_37n +1 known missense c.1367 p.T456N 0.000 superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 382 0 0.00 245 166 40.29 - - - TLE4 0 genome.wustl.edu 37 9 82191129 82191129 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 82191129 82191129 A G SNP TLE4 ENST00000461758 human ensembl 69_37n +1 known missense c.289 p.N97D 0.001 NULL pfam_Groucho/TLE_N - no_errors TLE4 HGNC ENSG00000106829 130 0 0.00 113 56 33.14 - - - TLN2 0 genome.wustl.edu 37 15 63058521 63058521 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 63058521 63058521 C T SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known missense c.5096 p.A1699V 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 62 0 0.00 65 9 12.16 - - - TM4SF1 0 genome.wustl.edu 37 3 149089471 149089471 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 149089471 149089471 T C SNP TM4SF1 ENST00000472441 human ensembl 69_37n -1 putative silent c.330 p.V110 1.000 NULL pfam_L6_membrane - no_errors TM4SF1 HGNC ENSG00000169908 139 0 0.00 111 52 31.90 - - - TMC6 0 genome.wustl.edu 37 17 76128384 76128384 + RNA SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 76128384 76128384 G T SNP TMC6 ENST00000587480 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors TMC6 HGNC ENSG00000141524 22 0 0.00 47 11 18.97 - - - TMC8 0 genome.wustl.edu 37 17 76128547 76128547 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 76128547 76128547 G T SNP TMC8 ENST00000318430 human ensembl 69_37n +1 known missense c.406 p.V136F 0.826 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 53 0 0.00 138 34 19.54 - - - TMCC3 0 genome.wustl.edu 37 12 94965228 94965228 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 94965228 94965228 T C SNP TMCC3 ENST00000261226 human ensembl 69_37n -1 known missense c.1417 p.M473V 1.000 NULL pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 159 0 0.00 109 72 39.78 - - - TMCO7 0 genome.wustl.edu 37 16 68961618 68961618 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 68961618 68961618 G A SNP TMCO7 ENST00000261778 human ensembl 69_37n +1 known missense c.2275 p.V759I 0.924 superfamily_ARM-type_fold pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 215 0 0.00 127 76 37.44 - - - TMCO7 0 genome.wustl.edu 37 16 68961634 68961634 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 68961634 68961634 A G SNP TMCO7 ENST00000261778 human ensembl 69_37n +1 known missense c.2291 p.Q764R 0.965 superfamily_ARM-type_fold pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 202 2 0.98 120 57 31.67 - - - TMED4 0 genome.wustl.edu 37 7 44619119 44619119 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 44619119 44619119 G A SNP TMED4 ENST00000457408 human ensembl 69_37n -1 known missense c.643 p.R215C 1.000 pfam_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED4 HGNC ENSG00000158604 118 0 0.00 75 46 38.02 - - - TMEM196 0 genome.wustl.edu 37 7 19812245 19812245 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 19812245 19812245 G A SNP TMEM196 ENST00000405764 human ensembl 69_37n -1 known silent c.75 p.S25 1.000 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 44 0 0.00 27 28 50.00 - - - TMEM206 0 genome.wustl.edu 37 1 212548597 212548597 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 212548597 212548597 T - DEL TMEM206 ENST00000535273 human ensembl 69_37n -1 known frame_shift_del c.1012 p.S338fs 0.016 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 211 0 0.00 346 65 15.70 - - - TMEM57 0 genome.wustl.edu 37 1 25775353 25775353 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 25775353 25775353 C A SNP TMEM57 ENST00000374343 human ensembl 69_37n +1 known missense c.277 p.L93M 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 500 0 0.00 347 230 39.86 - - - TMEM59 0 genome.wustl.edu 37 1 54507477 54507477 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 54507477 54507477 G T SNP TMEM59 ENST00000234831 human ensembl 69_37n -1 known missense c.545 p.S182Y 1.000 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC ENSG00000116209 303 0 0.00 213 119 35.84 - - - TMX1 0 genome.wustl.edu 37 14 51716427 51716427 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 51716427 51716427 C T SNP TMX1 ENST00000457354 human ensembl 69_37n +1 known missense c.608 p.A203V 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX1 HGNC ENSG00000139921 421 0 0.00 319 167 34.36 - - - TNIK 0 genome.wustl.edu 37 3 170846513 170846513 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 170846513 170846513 A G SNP TNIK ENST00000436636 human ensembl 69_37n -1 known missense c.1763 p.V588A 0.553 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 TNIK HGNC ENSG00000154310 153 1 0.65 111 65 36.93 - - - TNK1 0 genome.wustl.edu 37 17 7290395 7290396 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 7290395 7290396 - G INS TNK1 ENST00000576812 human ensembl 69_37n +1 known frame_shift_ins c.1334_1335 p.L449fs 0.000:0.004 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK1 HGNC ENSG00000174292 115 0 0.00 101 40 28.37 - - - TNKS2 0 genome.wustl.edu 37 10 93605590 93605590 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 93605590 93605590 G A SNP TNKS2 ENST00000371627 human ensembl 69_37n +1 known missense c.2251 p.E751K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 175 0 0.00 151 69 31.36 - - - TNPO3 0 genome.wustl.edu 37 7 128645119 128645119 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 128645119 128645119 C T SNP TNPO3 ENST00000393245 human ensembl 69_37n -1 known missense c.647 p.S216N 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 238 0 0.00 170 82 32.54 - - - TNRC6A 0 genome.wustl.edu 37 16 24802365 24802366 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 24802365 24802366 - G INS TNRC6A ENST00000395799 human ensembl 69_37n +1 known frame_shift_ins c.2402_2403 p.W804fs 1.000:0.988 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 87 0 0.00 54 12 18.18 - - - TNRC6C 0 genome.wustl.edu 37 17 76047478 76047478 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 76047478 76047478 C - DEL TNRC6C ENST00000335749 human ensembl 69_37n +1 known frame_shift_del c.2335 p.P780fs 0.253 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 57 0 0.00 106 22 16.92 - - - TOMM40L 0 genome.wustl.edu 37 1 161198542 161198542 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 161198542 161198542 T C SNP TOMM40L ENST00000367987 human ensembl 69_37n +1 known missense c.722 p.L241P 1.000 pfam_Porin_Euk pfam_Porin_Euk - no_errors TOMM40L HGNC ENSG00000158882 213 0 0.00 440 84 16.03 - - - TOMM40L 0 genome.wustl.edu 37 1 161199736 161199736 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 161199736 161199736 G A SNP TOMM40L ENST00000474486 human ensembl 69_37n +1 known rna NULL NULL 0.009 - - - no_errors TOMM40L HGNC ENSG00000158882 164 0 0.00 278 68 19.65 - - - TONSL 0 genome.wustl.edu 37 8 145657806 145657806 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 145657806 145657806 G A SNP TONSL ENST00000409379 human ensembl 69_37n -1 known silent c.3597 p.N1199 0.004 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 53 0 0.00 43 16 27.12 - - - TOPBP1 0 genome.wustl.edu 37 3 133374202 133374202 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 133374202 133374202 T C SNP TOPBP1 ENST00000260810 human ensembl 69_37n -1 known missense c.674 p.H225R 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 303 0 0.00 245 145 37.18 - - - TOR1AIP2 0 genome.wustl.edu 37 1 179815881 179815881 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 179815881 179815881 C T SNP TOR1AIP2 ENST00000367612 human ensembl 69_37n -1 known silent c.738 p.V246 0.415 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP2 HGNC ENSG00000169905 51 0 0.00 91 13 12.50 - - - TP53INP2 0 genome.wustl.edu 37 20 33296585 33296586 + Frame_Shift_Ins INS - - C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 33296585 33296586 - C INS TP53INP2 ENST00000374809 human ensembl 69_37n +1 known frame_shift_ins c.42_43 p.E16fs 0.000:0.030 NULL NULL - no_errors TP53INP2 HGNC ENSG00000078804 217 0 0.00 148 63 29.86 - - - TPH2 0 genome.wustl.edu 37 12 72366385 72366385 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 72366385 72366385 C A SNP TPH2 ENST00000333850 human ensembl 69_37n +1 known missense c.695 p.P232H 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 191 1 0.52 134 83 38.07 - - - TPO 0 genome.wustl.edu 37 2 1507748 1507748 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 1507748 1507748 C - DEL TPO ENST00000329066 human ensembl 69_37n +1 known frame_shift_del c.2415 p.C808fs 0.002 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 89 0 0.00 77 25 24.04 - - - TPRKB 0 genome.wustl.edu 37 2 73959365 73959365 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 73959365 73959365 G C SNP TPRKB ENST00000272424 human ensembl 69_37n -1 known missense c.189 p.H63Q 0.995 pfam_Kinase-bd_CGI-121 pfam_Kinase-bd_CGI-121 - no_errors TPRKB HGNC ENSG00000144034 494 0 0.00 338 158 31.79 - - - TPST2 0 genome.wustl.edu 37 22 26932298 26932299 + Frame_Shift_Ins INS - - GG TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 26932298 26932299 - GG INS TPST2 ENST00000338754 human ensembl 69_37n -1 known frame_shift_ins c.997_996 p.N332fs 1.000:0.999 NULL pfam_Sulfotransferase_dom - no_errors TPST2 HGNC ENSG00000128294 170 0 0.00 115 46 28.57 - - - TRAF5 0 genome.wustl.edu 37 1 211533923 211533923 + RNA SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 211533923 211533923 A G SNP TRAF5 ENST00000462410 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors TRAF5 HGNC ENSG00000082512 86 0 0.00 155 34 17.89 - - - TRAPPC11 0 genome.wustl.edu 37 4 184603899 184603899 + Nonsense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 184603899 184603899 T A SNP TRAPPC11 ENST00000334690 human ensembl 69_37n +1 known nonsense c.1128 p.Y376* 1.000 pfam_Foie-gras_1 pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 217 1 0.46 175 101 36.59 - - - TRAT1 0 genome.wustl.edu 37 3 108572596 108572596 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 108572596 108572596 G A SNP TRAT1 ENST00000295756 human ensembl 69_37n +1 known missense c.433 p.A145T 0.001 NULL NULL - no_errors TRAT1 HGNC ENSG00000163519 205 0 0.00 154 102 39.69 - - - TRIM16L 0 genome.wustl.edu 37 17 18635399 18635399 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 18635399 18635399 T C SNP TRIM16L ENST00000395902 human ensembl 69_37n +1 known missense c.577 p.Y193H 0.000 pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC ENSG00000108448 456 0 0.00 342 178 34.23 - - - TRIM17 0 genome.wustl.edu 37 1 228596779 228596779 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 228596779 228596779 C - DEL TRIM17 ENST00000456946 human ensembl 69_37n -1 known frame_shift_del c.977 p.G326fs 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM17 HGNC ENSG00000162931 103 0 0.00 170 29 14.29 - - - TRIM17 0 genome.wustl.edu 37 1 228598716 228598716 + Silent SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 228598716 228598716 A T SNP TRIM17 ENST00000295033 human ensembl 69_37n -1 known silent c.687 p.G229 0.470 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 27 0 0.00 65 15 18.07 - - - TRIM27 0 genome.wustl.edu 37 6 28876593 28876593 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 28876593 28876593 T C SNP TRIM27 ENST00000377199 human ensembl 69_37n -1 known missense c.911 p.K304R 1.000 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 284 0 0.00 196 136 40.96 - - - TRIM3 0 genome.wustl.edu 37 11 6477399 6477399 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 6477399 6477399 C T SNP TRIM3 ENST00000345851 human ensembl 69_37n -1 known missense c.1436 p.R479H 0.992 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 187 0 0.00 125 73 36.87 - - - TRIM34 0 genome.wustl.edu 37 11 5653667 5653667 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 5653667 5653667 C T SNP TRIM34 ENST00000337072 human ensembl 69_37n +1 known nonsense c.1168 p.R390* 0.961 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM34 HGNC ENSG00000258659 185 0 0.00 160 107 39.34 - - - TRIM46 0 genome.wustl.edu 37 1 155156289 155156289 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 155156289 155156289 G T SNP TRIM46 ENST00000334634 human ensembl 69_37n +1 known missense c.1903 p.G635W 1.000 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 41 0 0.00 59 12 16.67 - - - TRIM67 0 genome.wustl.edu 37 1 231339666 231339666 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 231339666 231339666 G A SNP TRIM67 ENST00000366652 human ensembl 69_37n +1 known missense c.1588 p.V530I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 119 0 0.00 245 45 15.52 - - - TRIM67 0 genome.wustl.edu 37 1 231344914 231344914 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 231344914 231344914 C T SNP TRIM67 ENST00000366652 human ensembl 69_37n +1 known silent c.2041 p.L681 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 243 1 0.41 415 96 18.71 - - - TRIP13 0 genome.wustl.edu 37 5 896907 896907 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 896907 896907 C T SNP TRIP13 ENST00000513435 human ensembl 69_37n +1 putative nonsense c.373 p.Q125* 1.000 NULL pfam_ATPase_AAA_core - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRIP13 HGNC ENSG00000071539 302 0 0.00 209 110 34.48 - - - TRNAU1AP 0 genome.wustl.edu 37 1 28893900 28893900 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 28893900 28893900 C T SNP TRNAU1AP ENST00000373830 human ensembl 69_37n +1 known missense c.505 p.R169W 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRNAU1AP HGNC ENSG00000180098 360 1 0.28 190 123 39.17 - - - TRO 0 genome.wustl.edu 37 X 54948666 54948666 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 54948666 54948666 G A SNP TRO ENST00000474933 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TRO HGNC ENSG00000067445 578 2 0.34 371 250 40.26 - - - TRPM5 0 genome.wustl.edu 37 11 2434054 2434055 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 2434054 2434055 - G INS TRPM5 ENST00000452833 human ensembl 69_37n -1 known frame_shift_ins c.2291_2290 p.Q764fs 0.009:0.011 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 37 0 0.00 40 10 20.00 - - - TSPAN16 0 genome.wustl.edu 37 19 11417267 11417269 + In_Frame_Del DEL CTC CTC - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 11417267 11417269 CTC - DEL TSPAN16 ENST00000337994 human ensembl 69_37n +1 known in_frame_del c.471_473 p.S159in_frame_del 0.000:0.000:0.000 NULL pfam_Tetraspanin/Peripherin,prints_Tetraspanin - no_errors TSPAN16 HGNC ENSG00000130167 151 0 0.00 50 112 69.14 - - - TSPEAR 0 genome.wustl.edu 37 21 45919820 45919820 + Splice_Site SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 21 45919820 45919820 C A SNP TSPEAR ENST00000323084 human ensembl 69_37n -1 known splice_site c.1857-1 e12-1 1.000 - - - no_errors TSPEAR HGNC ENSG00000175894 13 0 0.00 13 6 31.58 - - - TSPYL2 0 genome.wustl.edu 37 X 53114014 53114014 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 53114014 53114014 G C SNP TSPYL2 ENST00000375442 human ensembl 69_37n +1 known missense c.963 p.M321I 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 285 0 0.00 176 105 37.37 - - - TSSC1 0 genome.wustl.edu 37 2 3217957 3217957 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 3217957 3217957 A G SNP TSSC1 ENST00000382125 human ensembl 69_37n -1 known missense c.479 p.L160P 1.000 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TSSC1 HGNC ENSG00000032389 250 0 0.00 158 84 34.71 - - - TTC17 0 genome.wustl.edu 37 11 43411286 43411286 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 43411286 43411286 C T SNP TTC17 ENST00000039989 human ensembl 69_37n +1 known missense c.334 p.P112S 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 244 0 0.00 167 100 37.31 - - - TTC25 0 genome.wustl.edu 37 17 40101480 40101480 + RNA SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 40101480 40101480 A T SNP TTC25 ENST00000377540 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors TTC25 HGNC ENSG00000204815 103 0 0.00 39 39 50.00 - - - TTC28 0 genome.wustl.edu 37 22 28503539 28503539 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 28503539 28503539 C T SNP TTC28 ENST00000397906 human ensembl 69_37n -1 novel missense c.2294 p.R765Q 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 237 0 0.00 142 79 35.75 - - - TTC40 0 genome.wustl.edu 37 10 134735720 134735720 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 134735720 134735720 T - DEL TTC40 ENST00000368582 human ensembl 69_37n -1 known frame_shift_del c.1494 p.A499fs 0.314 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 22 0 0.00 18 5 20.83 - - - TTLL11 0 genome.wustl.edu 37 9 124584995 124584995 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 124584995 124584995 C T SNP TTLL11 ENST00000321582 human ensembl 69_37n -1 known silent c.2274 p.S758 0.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC ENSG00000175764 33 0 0.00 20 11 35.48 - - - TTLL3 0 genome.wustl.edu 37 3 9860332 9860332 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 9860332 9860332 G A SNP TTLL3 ENST00000474948 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors TTLL3 HGNC ENSG00000214021 19 0 0.00 8 7 46.67 - - - TTN 0 genome.wustl.edu 37 2 179452813 179452813 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 179452813 179452813 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.55617 p.I18539M 0.001 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 217 1 0.46 147 88 37.45 - - - TTN 0 genome.wustl.edu 37 2 179489400 179489400 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 179489400 179489400 A G SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.36903 p.T12301 0.994 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 128 0 0.00 86 55 39.01 - - - TTN 0 genome.wustl.edu 37 2 179612822 179612823 + Frame_Shift_Ins INS - - T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 179612822 179612823 - T INS TTN ENST00000360870 human ensembl 69_37n -1 known frame_shift_ins c.14305_14304 p.A4768fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 268 0 0.00 232 124 34.83 - - - TUBA3D 0 genome.wustl.edu 37 2 132235829 132235829 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 132235829 132235829 C T SNP TUBA3D ENST00000321253 human ensembl 69_37n +1 known silent c.96 p.P32 0.969 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 451 1 0.22 299 153 33.85 - - - TUBA3E 0 genome.wustl.edu 37 2 130952658 130952658 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 130952658 130952658 G A SNP TUBA3E ENST00000312988 human ensembl 69_37n -1 known silent c.369 p.R123 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 400 0 0.00 252 208 45.22 - - - TUBD1 0 genome.wustl.edu 37 17 57958422 57958422 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 57958422 57958422 G A SNP TUBD1 ENST00000325752 human ensembl 69_37n -1 known missense c.370 p.R124W 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 228 1 0.43 441 113 20.32 - - - TXNL1 0 genome.wustl.edu 37 18 54281731 54281731 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 54281731 54281731 A G SNP TXNL1 ENST00000217515 human ensembl 69_37n -1 known missense c.659 p.L220P 1.000 pfam_PITH_dom,superfamily_Galactose-bd-like pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold - no_errors TXNL1 HGNC ENSG00000091164 387 0 0.00 272 169 38.24 - - - UBA1 0 genome.wustl.edu 37 X 47070300 47070300 + Silent SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 47070300 47070300 C A SNP UBA1 ENST00000335972 human ensembl 69_37n +1 known silent c.2259 p.T753 0.964 pfam_UBact_repeat,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 404 0 0.00 248 124 33.33 - - - UBC 0 genome.wustl.edu 37 12 125398030 125398030 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 125398030 125398030 A G SNP UBC ENST00000536834 human ensembl 69_37n -1 known missense c.197 p.V66A 0.993 smart_Ubiquitin,prints_Ubiquitin_subgr pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 712 2 0.28 406 261 39.01 - - - UBE2O 0 genome.wustl.edu 37 17 74396571 74396571 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 74396571 74396571 C T SNP UBE2O ENST00000319380 human ensembl 69_37n -1 known missense c.955 p.D319N 0.999 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 116 0 0.00 210 39 15.66 - - - UBE3C 0 genome.wustl.edu 37 7 157046647 157046647 + Splice_Site SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 157046647 157046647 G T SNP UBE3C ENST00000348165 human ensembl 69_37n +1 known splice_site c.2695-1 e20-1 1.000 - - - no_errors UBE3C HGNC ENSG00000009335 69 0 0.00 46 31 40.26 - - - UBR2 0 genome.wustl.edu 37 6 42627561 42627562 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 42627561 42627562 - A INS UBR2 ENST00000372899 human ensembl 69_37n +1 known frame_shift_ins c.3410_3411 p.N1139fs 1.000:1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 245 0 0.00 187 80 29.96 - - - UBR2 0 genome.wustl.edu 37 6 42641867 42641867 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 42641867 42641867 T C SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known missense c.4187 p.L1396P 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 468 3 0.64 322 183 36.09 - - - UBR3 0 genome.wustl.edu 37 2 170885882 170885882 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 170885882 170885882 C T SNP UBR3 ENST00000272793 human ensembl 69_37n +1 known missense c.4480 p.H1494Y 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 216 1 0.46 182 97 34.77 - - - UBTF 0 genome.wustl.edu 37 17 42285118 42285118 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 42285118 42285118 C A SNP UBTF ENST00000302904 human ensembl 69_37n -1 known missense c.1974 p.K658N 1.000 superfamily_HMG_superfamily,superfamily_ARM-type_fold pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors UBTF HGNC ENSG00000108312 181 0 0.00 51 60 53.57 - - - UBXN2A 0 genome.wustl.edu 37 2 24199863 24199863 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 24199863 24199863 A - DEL UBXN2A ENST00000309033 human ensembl 69_37n +1 known frame_shift_del c.205 p.N70fs 1.000 pfam_SEP_domain,superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2A HGNC ENSG00000173960 237 0 0.00 142 73 33.18 - - - UGT1A4 0 genome.wustl.edu 37 2 234681079 234681079 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 234681079 234681079 T C SNP UGT1A4 ENST00000373409 human ensembl 69_37n +1 known silent c.1479 p.I493 0.016 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 413 0 0.00 250 151 37.47 - - - UGT2B7 0 genome.wustl.edu 37 4 69962480 69962480 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 69962480 69962480 T C SNP UGT2B7 ENST00000305231 human ensembl 69_37n +1 known missense c.242 p.L81S 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 174 0 0.00 109 72 39.78 - - - UNK 0 genome.wustl.edu 37 17 73814802 73814802 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 73814802 73814802 C - DEL UNK ENST00000293218 human ensembl 69_37n +1 known frame_shift_del c.1679 p.P562fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 205 0 0.00 337 63 15.52 - - - UPK3B 0 genome.wustl.edu 37 7 76144472 76144472 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 76144472 76144472 C T SNP UPK3B ENST00000334348 human ensembl 69_37n +1 known missense c.782 p.P261L 0.968 NULL NULL - no_errors UPK3B HGNC ENSG00000243566 19 0 0.00 19 9 32.14 - - - UPP1 0 genome.wustl.edu 37 7 48142985 48142985 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 48142985 48142985 G A SNP UPP1 ENST00000331803 human ensembl 69_37n +1 known missense c.413 p.R138H 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP1 HGNC ENSG00000183696 330 1 0.30 222 124 35.84 - - - USH1C 0 genome.wustl.edu 37 11 17515664 17515665 + RNA INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 17515664 17515665 - A INS USH1C ENST00000529563 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.000 - - - no_errors USH1C HGNC ENSG00000006611 39 0 0.00 16 8 33.33 - - - USP20 0 genome.wustl.edu 37 9 132637681 132637681 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 132637681 132637681 G A SNP USP20 ENST00000315480 human ensembl 69_37n +1 known missense c.2141 p.R714H 1.000 smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC ENSG00000136878 79 0 0.00 48 23 32.39 - - - USP32 0 genome.wustl.edu 37 17 58258723 58258723 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 58258723 58258723 T C SNP USP32 ENST00000300896 human ensembl 69_37n -1 known missense c.4510 p.T1504A 0.010 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 366 0 0.00 649 126 16.22 - - - USP32 0 genome.wustl.edu 37 17 58258980 58258980 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 58258980 58258980 T - DEL USP32 ENST00000300896 human ensembl 69_37n -1 known frame_shift_del c.4253 p.N1418fs 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 148 0 0.00 263 58 17.90 - - - USP32 0 genome.wustl.edu 37 17 58286768 58286768 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 58286768 58286768 T C SNP USP32 ENST00000300896 human ensembl 69_37n -1 known missense c.2561 p.D854G 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 209 1 0.48 455 112 19.72 - - - USP34 0 genome.wustl.edu 37 2 61431727 61431727 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 61431727 61431727 T C SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.9164 p.K3055R 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 296 0 0.00 242 130 34.95 - - - USP35 0 genome.wustl.edu 37 11 77920856 77920856 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 77920856 77920856 C - DEL USP35 ENST00000529308 human ensembl 69_37n +1 known frame_shift_del c.1955 p.T655fs 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP35 HGNC ENSG00000118369 204 1 0.48 178 98 34.75 - - - USP36 0 genome.wustl.edu 37 17 76798528 76798528 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 76798528 76798528 C T SNP USP36 ENST00000312010 human ensembl 69_37n -1 known missense c.2900 p.R967Q 0.996 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 64 0 0.00 125 19 13.19 - - - USP43 0 genome.wustl.edu 37 17 9604499 9604499 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 9604499 9604499 G C SNP USP43 ENST00000285199 human ensembl 69_37n +1 known missense c.1599 p.Q533H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 39 0 0.00 23 26 53.06 - - - USP45 0 genome.wustl.edu 37 6 99885238 99885238 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 99885238 99885238 T C SNP USP45 ENST00000327681 human ensembl 69_37n -1 known missense c.2198 p.Y733C 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP45 HGNC ENSG00000123552 352 0 0.00 266 180 40.36 - - - USP9X 0 genome.wustl.edu 37 X 41055854 41055855 + Frame_Shift_Del DEL AG AG - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 41055854 41055855 AG - DEL USP9X ENST00000324545 human ensembl 69_37n +1 known frame_shift_del c.4096_4097 p.R1368fs 0.999:1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 177 0 0.00 98 67 40.36 - - - UTS2R 0 genome.wustl.edu 37 17 80332445 80332445 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 80332445 80332445 C T SNP UTS2R ENST00000313135 human ensembl 69_37n +1 known missense c.245 p.A82V 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Urot_II_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors UTS2R HGNC ENSG00000181408 32 0 0.00 68 14 17.07 - - - VAC14 0 genome.wustl.edu 37 16 70722098 70722098 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 70722098 70722098 G A SNP VAC14 ENST00000571759 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors VAC14 HGNC ENSG00000103043 86 0 0.00 58 38 39.58 - - - VASH1 0 genome.wustl.edu 37 14 77242496 77242496 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 77242496 77242496 A G SNP VASH1 ENST00000167106 human ensembl 69_37n +1 known silent c.792 p.S264 1.000 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 17 0 0.00 11 9 45.00 - - - VASN 0 genome.wustl.edu 37 16 4430999 4430999 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 4430999 4430999 C T SNP VASN ENST00000304735 human ensembl 69_37n +1 known missense c.121 p.R41C 0.997 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 12 0 0.00 14 4 22.22 - - - VAX1 0 genome.wustl.edu 37 10 118891730 118891730 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 118891730 118891730 T A SNP VAX1 ENST00000277905 human ensembl 69_37n -1 known missense c.551 p.Q184L 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors VAX1 HGNC ENSG00000148704 105 0 0.00 63 34 35.05 - - - VEZF1 0 genome.wustl.edu 37 17 56056610 56056610 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 56056610 56056610 C T SNP VEZF1 ENST00000258963 human ensembl 69_37n -1 novel missense c.497 p.S166N 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VEZF1 HGNC ENSG00000136451 226 1 0.44 403 96 19.16 - - - VPS11 0 genome.wustl.edu 37 11 118942364 118942364 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 118942364 118942364 G A SNP VPS11 ENST00000300793 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC ENSG00000160695 317 0 0.00 263 154 36.84 - - - VPS13A 0 genome.wustl.edu 37 9 79984308 79984308 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 79984308 79984308 T - DEL VPS13A ENST00000360280 human ensembl 69_37n +1 known frame_shift_del c.8647 p.Y2885fs 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 479 0 0.00 369 161 30.21 - - - VPS33A 0 genome.wustl.edu 37 12 122720397 122720397 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 122720397 122720397 C - DEL VPS33A ENST00000267199 human ensembl 69_37n -1 known frame_shift_del c.1376 p.G459fs 0.996 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 445 0 0.00 287 148 33.41 - - - VPS51 0 genome.wustl.edu 37 11 64875384 64875384 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 64875384 64875384 C T SNP VPS51 ENST00000279281 human ensembl 69_37n +1 known silent c.615 p.R205 0.336 pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 11 0 0.00 12 17 58.62 - - - VRTN 0 genome.wustl.edu 37 14 74824463 74824463 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 74824463 74824463 G - DEL VRTN ENST00000256362 human ensembl 69_37n +1 known frame_shift_del c.977 p.G328fs 0.994 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 22 0 0.00 8 16 59.26 - - - VWA7 0 genome.wustl.edu 37 6 31743928 31743928 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 31743928 31743928 C T SNP VWA7 ENST00000375686 human ensembl 69_37n -1 known missense c.326 p.R109H 1.000 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 89 0 0.00 60 50 45.45 - - - VWF 0 genome.wustl.edu 37 12 6143979 6143979 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 6143979 6143979 G T SNP VWF ENST00000261405 human ensembl 69_37n -1 known silent c.2560 p.R854 1.000 pirsf_VWF,smart_VWC_out,smart_VWF_C pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 360 0 0.00 195 127 39.44 - - - WDPCP 0 genome.wustl.edu 37 2 63605645 63605645 + Splice_Site SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 63605645 63605645 C T SNP WDPCP ENST00000272321 human ensembl 69_37n -1 known splice_site c.1625-1 e12-1 1.000 - - - no_errors WDPCP HGNC ENSG00000143951 230 0 0.00 158 109 40.82 - - - WDR31 0 genome.wustl.edu 37 9 116083833 116083833 + Missense_Mutation SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 116083833 116083833 C G SNP WDR31 ENST00000374193 human ensembl 69_37n -1 known missense c.596 p.R199T 0.616 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR31 HGNC ENSG00000148225 423 0 0.00 277 194 41.01 - - - WDR45 0 genome.wustl.edu 37 X 48933619 48933620 + Frame_Shift_Ins INS - - G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 48933619 48933620 - G INS WDR45 ENST00000322995 human ensembl 69_37n -1 known frame_shift_ins c.455_454 p.H152fs 0.008:0.003 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 138 0 0.00 80 22 21.57 - - - WDR5 0 genome.wustl.edu 37 9 137005008 137005010 + In_Frame_Del DEL GGA GGA - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 9 137005008 137005010 GGA - DEL WDR5 ENST00000358625 human ensembl 69_37n +1 known in_frame_del c.9_11 p.E5in_frame_del 0.658:1.000:1.000 NULL pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR5 HGNC ENSG00000196363 53 0 0.00 27 13 32.50 - - - WDR81 0 genome.wustl.edu 37 17 1636026 1636026 + Missense_Mutation SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 17 1636026 1636026 C G SNP WDR81 ENST00000409644 human ensembl 69_37n +1 known missense c.4390 p.Q1464E 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 45 0 0.00 17 23 57.50 - - - WDTC1 0 genome.wustl.edu 37 1 27622855 27622855 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 27622855 27622855 C T SNP WDTC1 ENST00000319394 human ensembl 69_37n +1 known silent c.912 p.Y304 0.999 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 622 0 0.00 379 259 40.41 - - - WDTC1 0 genome.wustl.edu 37 1 27632974 27632974 + RNA DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 27632974 27632974 T - DEL WDTC1 ENST00000491239 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors WDTC1 HGNC ENSG00000142784 22 0 0.00 11 7 38.89 - - - WHSC1 0 genome.wustl.edu 37 4 1906107 1906107 + Splice_Site SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 1906107 1906107 T C SNP WHSC1 ENST00000382891 human ensembl 69_37n +1 known splice_site c.760+2 e2+2 1.000 - - - no_errors WHSC1 HGNC ENSG00000109685 301 0 0.00 195 122 38.49 - - - WIPF1 0 genome.wustl.edu 37 2 175437136 175437137 + Frame_Shift_Ins INS - - AT TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 175437136 175437137 - AT INS WIPF1 ENST00000272746 human ensembl 69_37n -1 known frame_shift_ins c.397_396 p.G132fs 1.000:1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 130 0 0.00 100 23 18.70 - - - WIPF1 0 genome.wustl.edu 37 2 175437138 175437141 + Frame_Shift_Del DEL CCCG CCCG - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 CCCG CCCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 175437138 175437141 CCCG - DEL WIPF1 ENST00000272746 human ensembl 69_37n -1 known frame_shift_del c.395_392 p.P131fs 1.000:1.000:0.384:1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 126 0 0.00 95 23 19.17 - - - WISP2 0 genome.wustl.edu 37 20 43343936 43343936 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 43343936 43343936 G A SNP WISP2 ENST00000497421 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors WISP2 HGNC ENSG00000064205 31 0 0.00 24 16 40.00 - - - WISP3 0 genome.wustl.edu 37 6 112389433 112389434 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 112389433 112389434 - A INS WISP3 ENST00000361714 human ensembl 69_37n +1 known frame_shift_ins c.669_670 p.C226fs 1.000:1.000 superfamily_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 154 0 0.00 91 53 36.81 - - - WLS 0 genome.wustl.edu 37 1 68624864 68624864 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 68624864 68624864 G A SNP WLS ENST00000540432 human ensembl 69_37n -1 known missense c.446 p.T149I 0.969 NULL NULL - no_errors WLS HGNC ENSG00000116729 213 1 0.47 171 94 35.47 - - - WNK1 0 genome.wustl.edu 37 12 1005583 1005583 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 1005583 1005583 C T SNP WNK1 ENST00000530271 human ensembl 69_37n +1 known missense c.7424 p.A2475V 0.023 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 197 0 0.00 133 86 39.09 - - - WNK1 0 genome.wustl.edu 37 12 992227 992227 + Splice_Site SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 992227 992227 T C SNP WNK1 ENST00000530271 human ensembl 69_37n +1 known splice_site c.4983+2 e17+2 1.000 - - - no_errors WNK1 HGNC ENSG00000060237 256 1 0.39 161 77 32.35 - - - WNT7B 0 genome.wustl.edu 37 22 46345958 46345958 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 22 46345958 46345958 C T SNP WNT7B ENST00000339464 human ensembl 69_37n -1 known missense c.140 p.R47Q 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 50 0 0.00 29 38 56.72 - - - WRN 0 genome.wustl.edu 37 8 30977830 30977830 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 30977830 30977830 T C SNP WRN ENST00000298139 human ensembl 69_37n +1 known silent c.2520 p.G840 0.896 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 228 0 0.00 199 80 28.67 - - - WWC3 0 genome.wustl.edu 37 X 10106783 10106783 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 10106783 10106783 G A SNP WWC3 ENST00000380861 human ensembl 69_37n +1 known missense c.2891 p.R964H 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC ENSG00000047644 40 0 0.00 24 14 36.84 - - - XCL1 0 genome.wustl.edu 37 1 168550325 168550325 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 168550325 168550325 A G SNP XCL1 ENST00000367818 human ensembl 69_37n +1 known missense c.212 p.D71G 0.943 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 - no_errors XCL1 HGNC ENSG00000143184 753 0 0.00 1482 294 16.53 - - - XIRP1 0 genome.wustl.edu 37 3 39227239 39227239 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 3 39227239 39227239 C T SNP XIRP1 ENST00000340369 human ensembl 69_37n -1 known missense c.3698 p.R1233H 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 70 0 0.00 18 25 58.14 - - - XPO4 0 genome.wustl.edu 37 13 21417072 21417072 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 21417072 21417072 G A SNP XPO4 ENST00000255305 human ensembl 69_37n -1 known missense c.689 p.A230V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 112 0 0.00 87 63 41.45 - - - XPO4 0 genome.wustl.edu 37 13 21442809 21442809 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 13 21442809 21442809 C T SNP XPO4 ENST00000255305 human ensembl 69_37n -1 known missense c.101 p.R34H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 417 0 0.00 288 179 38.33 - - - YARS2 0 genome.wustl.edu 37 12 32880435 32880435 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 32880435 32880435 A - DEL YARS2 ENST00000551673 human ensembl 69_37n -1 known rna NULL NULL 0.909 - - - no_errors YARS2 HGNC ENSG00000139131 36 0 0.00 29 13 30.95 - - - YTHDF1 0 genome.wustl.edu 37 20 61834907 61834907 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 61834907 61834907 A G SNP YTHDF1 ENST00000370339 human ensembl 69_37n -1 known missense c.385 p.F129L 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 74 0 0.00 52 28 35.00 - - - ZBTB1 0 genome.wustl.edu 37 14 64989787 64989787 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 14 64989787 64989787 A - DEL ZBTB1 ENST00000394712 human ensembl 69_37n +1 known frame_shift_del c.1565 p.K524fs 0.222 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 321 1 0.31 224 134 36.91 - - - ZBTB41 0 genome.wustl.edu 37 1 197168890 197168890 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 197168890 197168890 T - DEL ZBTB41 ENST00000367405 human ensembl 69_37n -1 known frame_shift_del c.714 p.K238fs 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 69 0 0.00 114 28 19.58 - - - ZC3H12B 0 genome.wustl.edu 37 X 64722831 64722831 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 64722831 64722831 C T SNP ZC3H12B ENST00000338957 human ensembl 69_37n +1 known silent c.2253 p.L751 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 216 0 0.00 158 96 37.80 - - - ZC3H7A 0 genome.wustl.edu 37 16 11852388 11852388 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 11852388 11852388 T C SNP ZC3H7A ENST00000355758 human ensembl 69_37n -1 known missense c.2327 p.N776S 1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 209 0 0.00 126 73 36.50 - - - ZC3HAV1 0 genome.wustl.edu 37 7 138764573 138764573 + Silent SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 138764573 138764573 T G SNP ZC3HAV1 ENST00000242351 human ensembl 69_37n -1 known silent c.1114 p.R372 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 215 0 0.00 134 84 38.36 - - - ZDBF2 0 genome.wustl.edu 37 2 207174377 207174377 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 2 207174377 207174377 G A SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.5125 p.A1709T 0.002 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 222 0 0.00 155 97 38.49 - - - ZEB1 0 genome.wustl.edu 37 10 31815987 31815987 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 31815987 31815987 A G SNP ZEB1 ENST00000361642 human ensembl 69_37n +1 known missense c.3173 p.E1058G 0.094 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 617 0 0.00 455 270 37.19 - - - ZFHX3 0 genome.wustl.edu 37 16 72822441 72822441 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 72822441 72822441 T - DEL ZFHX3 ENST00000268489 human ensembl 69_37n -1 known frame_shift_del c.9734 p.K3245fs 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 322 1 0.31 191 108 35.29 - - - ZFHX3 0 genome.wustl.edu 37 16 72991442 72991442 + Missense_Mutation SNP T T A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 72991442 72991442 T A SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.2603 p.Q868L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 366 0 0.00 239 147 37.98 - - - ZFHX3 0 genome.wustl.edu 37 16 72991573 72991573 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 72991573 72991573 G A SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known silent c.2472 p.T824 1.000 smart_Znf_C2H2-like pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 351 0 0.00 221 142 39.01 - - - ZFP82 0 genome.wustl.edu 37 19 36884529 36884529 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 36884529 36884529 C T SNP ZFP82 ENST00000392161 human ensembl 69_37n -1 known missense c.713 p.G238D 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP82 HGNC ENSG00000181007 372 1 0.27 242 155 39.04 - - - ZFYVE28 0 genome.wustl.edu 37 4 2306975 2306975 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 2306975 2306975 A G SNP ZFYVE28 ENST00000290974 human ensembl 69_37n -1 known silent c.1092 p.I364 0.488 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 30 0 0.00 22 17 43.59 - - - ZMYM3 0 genome.wustl.edu 37 X 70472854 70472854 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 X 70472854 70472854 C - DEL ZMYM3 ENST00000373988 human ensembl 69_37n -1 known frame_shift_del c.252 p.L85fs 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 38 0 0.00 21 7 25.00 - - - ZNF100 0 genome.wustl.edu 37 19 21910146 21910146 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 21910146 21910146 C T SNP ZNF100 ENST00000358296 human ensembl 69_37n -1 known missense c.968 p.G323D 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 ZNF100 HGNC ENSG00000197020 68 0 0.00 34 7 17.07 - - - ZNF143 0 genome.wustl.edu 37 11 9501033 9501033 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 11 9501033 9501033 A G SNP ZNF143 ENST00000396602 human ensembl 69_37n +1 known silent c.585 p.G195 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 363 0 0.00 236 152 39.18 - - - ZNF16 0 genome.wustl.edu 37 8 146156722 146156722 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 146156722 146156722 G A SNP ZNF16 ENST00000276816 human ensembl 69_37n -1 known missense c.1451 p.T484M 0.996 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 187 0 0.00 92 49 34.75 - - - ZNF160 0 genome.wustl.edu 37 19 53572768 53572768 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 53572768 53572768 G A SNP ZNF160 ENST00000418871 human ensembl 69_37n -1 known missense c.1019 p.P340L 0.967 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 ZNF160 HGNC ENSG00000170949 239 0 0.00 145 91 38.56 - - - ZNF222 0 genome.wustl.edu 37 19 44536586 44536586 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 44536586 44536586 G A SNP ZNF222 ENST00000391960 human ensembl 69_37n +1 known silent c.879 p.G293 0.963 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 ZNF222 HGNC ENSG00000159885 307 0 0.00 203 126 38.30 - - - ZNF236 0 genome.wustl.edu 37 18 74639295 74639295 + Frame_Shift_Del DEL G G - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 18 74639295 74639295 G - DEL ZNF236 ENST00000253159 human ensembl 69_37n +1 known frame_shift_del c.4230 p.E1412fs 0.299 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 93 0 0.00 60 36 36.00 - - - ZNF259P1 0 genome.wustl.edu 37 6 109107153 109107153 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 109107153 109107153 G A SNP ZNF259P1 ENST00000572422 human ensembl 69_37n -1 known rna NULL NULL 0.749 - - - no_errors ZNF259P1 HGNC ENSG00000219565 177 1 0.56 110 68 38.20 - - - ZNF28 0 genome.wustl.edu 37 19 53303462 53303462 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 53303462 53303462 T C SNP ZNF28 ENST00000457749 human ensembl 69_37n -1 known missense c.1636 p.T546A 1.000 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 ZNF28 HGNC ENSG00000198538 304 0 0.00 193 107 35.67 - - - ZNF300 0 genome.wustl.edu 37 5 150278031 150278031 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 150278031 150278031 C A SNP ZNF300 ENST00000446148 human ensembl 69_37n -1 known missense c.149 p.R50M 0.997 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 309 0 0.00 146 83 36.24 - - - ZNF323 0 genome.wustl.edu 37 6 28293971 28293971 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 28293971 28293971 T C SNP ZNF323 ENST00000344279 human ensembl 69_37n -1 known missense c.1193 p.Q398R 0.968 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF323 HGNC ENSG00000235109 388 0 0.00 244 164 40.20 - - - ZNF329 0 genome.wustl.edu 37 19 58639419 58639419 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 58639419 58639419 C T SNP ZNF329 ENST00000358067 human ensembl 69_37n -1 known silent c.1452 p.Q484 0.056 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 206 0 0.00 123 102 45.33 - - - ZNF329 0 genome.wustl.edu 37 19 58639690 58639690 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 58639690 58639690 G T SNP ZNF329 ENST00000358067 human ensembl 69_37n -1 known missense c.1181 p.S394Y 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 117 0 0.00 70 38 35.19 - - - ZNF34 0 genome.wustl.edu 37 8 145999360 145999360 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 145999360 145999360 T C SNP ZNF34 ENST00000343459 human ensembl 69_37n -1 known missense c.974 p.H325R 0.999 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 ZNF34 HGNC ENSG00000196378 119 0 0.00 86 41 32.28 - - - ZNF365 0 genome.wustl.edu 37 10 64136598 64136598 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 64136598 64136598 C T SNP ZNF365 ENST00000410046 human ensembl 69_37n +1 known missense c.646 p.R216W 0.998 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 64 0 0.00 60 37 38.14 - - - ZNF365 0 genome.wustl.edu 37 10 64159513 64159513 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 64159513 64159513 A - DEL ZNF365 ENST00000395254 human ensembl 69_37n +1 known frame_shift_del c.1189 p.K399fs 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 102 0 0.00 70 32 31.07 - - - ZNF384 0 genome.wustl.edu 37 12 6787583 6787583 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 12 6787583 6787583 G A SNP ZNF384 ENST00000361959 human ensembl 69_37n -1 known silent c.396 p.T132 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 180 0 0.00 82 58 41.43 - - - ZNF394 0 genome.wustl.edu 37 7 99097511 99097511 + Missense_Mutation SNP T T G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 99097511 99097511 T G SNP ZNF394 ENST00000337673 human ensembl 69_37n -1 known missense c.206 p.Q69P 0.995 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 53 0 0.00 38 23 37.70 - - - ZNF395 0 genome.wustl.edu 37 8 28218426 28218426 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 8 28218426 28218426 C T SNP ZNF395 ENST00000344423 human ensembl 69_37n -1 known silent c.216 p.Q72 0.990 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 43 0 0.00 21 14 40.00 - - - ZNF438 0 genome.wustl.edu 37 10 31139241 31139241 + Missense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 31139241 31139241 C A SNP ZNF438 ENST00000361310 human ensembl 69_37n -1 known missense c.93 p.K31N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 334 0 0.00 262 120 31.41 - - - ZNF469 0 genome.wustl.edu 37 16 88503133 88503133 + Missense_Mutation SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 88503133 88503133 G T SNP ZNF469 ENST00000437464 human ensembl 69_37n +1 known missense c.9171 p.Q3057H 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 14 0 0.00 11 5 31.25 - - - ZNF496 0 genome.wustl.edu 37 1 247473858 247473858 + RNA SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 247473858 247473858 C T SNP ZNF496 ENST00000462139 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZNF496 HGNC ENSG00000162714 59 0 0.00 83 21 20.19 - - - ZNF507 0 genome.wustl.edu 37 19 32873310 32873312 + RNA DEL ATG ATG - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 32873310 32873312 ATG - DEL ZNF507 ENST00000586664 human ensembl 69_37n +1 putative rna NULL NULL 0.000:0.000:0.000 - - - no_errors ZNF507 HGNC ENSG00000168813 293 0 0.00 219 98 30.91 - - - ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 69_37n +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 73 0 0.00 38 24 38.10 - - - ZNF541 0 genome.wustl.edu 37 19 48025197 48025197 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 48025197 48025197 T - DEL ZNF541 ENST00000314121 human ensembl 69_37n -1 known frame_shift_del c.3682 p.M1228fs 0.998 superfamily_Homeodomain-like,smart_SANT/Myb pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 274 0 0.00 143 92 38.82 - - - ZNF549 0 genome.wustl.edu 37 19 58049574 58049574 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 58049574 58049574 A G SNP ZNF549 ENST00000376233 human ensembl 69_37n +1 known missense c.1202 p.K401R 0.001 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 ZNF549 HGNC ENSG00000121406 204 0 0.00 108 49 31.21 - - - ZNF607 0 genome.wustl.edu 37 19 38190323 38190323 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 38190323 38190323 A G SNP ZNF607 ENST00000355202 human ensembl 69_37n -1 known missense c.709 p.Y237H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 172 0 0.00 105 48 31.37 - - - ZNF622 0 genome.wustl.edu 37 5 16453127 16453127 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 5 16453127 16453127 C T SNP ZNF622 ENST00000308683 human ensembl 69_37n -1 known missense c.1301 p.S434N 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF622 HGNC ENSG00000173545 104 1 0.95 78 56 41.79 - - - ZNF646 0 genome.wustl.edu 37 16 31091534 31091534 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 31091534 31091534 C T SNP ZNF646 ENST00000300850 human ensembl 69_37n +1 known missense c.3889 p.R1297W 0.199 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 23 0 0.00 19 10 34.48 - - - ZNF668 0 genome.wustl.edu 37 16 31072662 31072662 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 31072662 31072662 C T SNP ZNF668 ENST00000426488 human ensembl 69_37n -1 known silent c.1656 p.T552 0.010 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 31 0 0.00 19 12 38.71 - - - ZNF669 0 genome.wustl.edu 37 1 247264139 247264139 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 247264139 247264139 C T SNP ZNF669 ENST00000343381 human ensembl 69_37n -1 known missense c.932 p.C311Y 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 ZNF669 HGNC ENSG00000188295 245 0 0.00 445 93 17.29 - - - ZNF676 0 genome.wustl.edu 37 19 22363639 22363639 + Missense_Mutation SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 22363639 22363639 A T SNP ZNF676 ENST00000397121 human ensembl 69_37n -1 known missense c.880 p.S294T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 222 0 0.00 157 74 32.03 - - - ZNF687 0 genome.wustl.edu 37 1 151260658 151260658 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 1 151260658 151260658 C T SNP ZNF687 ENST00000324048 human ensembl 69_37n +1 known missense c.1891 p.P631S 0.006 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 36 0 0.00 52 13 20.00 - - - ZNF71 0 genome.wustl.edu 37 19 57133284 57133284 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 57133284 57133284 G A SNP ZNF71 ENST00000328070 human ensembl 69_37n +1 known missense c.629 p.G210D 0.685 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 39 0 0.00 15 11 42.31 - - - ZNF710 0 genome.wustl.edu 37 15 90617350 90617350 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 15 90617350 90617350 G A SNP ZNF710 ENST00000268154 human ensembl 69_37n +1 known silent c.1653 p.V551 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 84 0 0.00 49 20 28.99 - - - ZNF737 0 genome.wustl.edu 37 19 20728293 20728293 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 20728293 20728293 C T SNP ZNF737 ENST00000427401 human ensembl 69_37n -1 known missense c.716 p.S239N 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 143 0 0.00 78 38 32.76 - - - ZNF780A 0 genome.wustl.edu 37 19 40581186 40581186 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 40581186 40581186 G A SNP ZNF780A ENST00000455521 human ensembl 69_37n -1 known missense c.1166 p.P389L 0.986 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 ZNF780A HGNC ENSG00000197782 354 0 0.00 226 132 36.77 - - - ZNF780B 0 genome.wustl.edu 37 19 40540903 40540903 + Silent SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 40540903 40540903 G T SNP ZNF780B ENST00000434248 human ensembl 69_37n -1 known silent c.1863 p.A621 0.924 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 ZNF780B HGNC ENSG00000128000 353 0 0.00 256 134 34.36 - - - ZNF786 0 genome.wustl.edu 37 7 148767971 148767971 + Silent SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 148767971 148767971 G A SNP ZNF786 ENST00000491431 human ensembl 69_37n -1 known silent c.1893 p.R631 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 63 0 0.00 47 30 38.96 - - - ZNF793 0 genome.wustl.edu 37 19 38028415 38028415 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 38028415 38028415 T - DEL ZNF793 ENST00000445217 human ensembl 69_37n +1 known frame_shift_del c.855 p.C288fs 0.222 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 ZNF793 HGNC ENSG00000188227 293 0 0.00 184 109 37.07 - - - ZNF800 0 genome.wustl.edu 37 7 127013702 127013702 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 7 127013702 127013702 T - DEL ZNF800 ENST00000265827 human ensembl 69_37n -1 known frame_shift_del c.1688 p.K563fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 211 0 0.00 162 96 36.92 - - - ZNF821 0 genome.wustl.edu 37 16 71894267 71894267 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 16 71894267 71894267 A G SNP ZNF821 ENST00000425432 human ensembl 69_37n -1 known missense c.893 p.M298T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF821 HGNC ENSG00000102984 49 0 0.00 29 20 40.00 - - - ZNF876P 0 genome.wustl.edu 37 4 247819 247819 + RNA SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 4 247819 247819 G A SNP ZNF876P ENST00000356347 human ensembl 69_37n +1 known rna NULL NULL 0.977 - - - no_errors ZNF876P HGNC ENSG00000198155 37 0 0.00 23 7 23.33 - - - ZNFX1 0 genome.wustl.edu 37 20 47870291 47870291 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 47870291 47870291 T C SNP ZNFX1 ENST00000371752 human ensembl 69_37n -1 known missense c.3017 p.E1006G 1.000 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 284 0 0.00 210 125 37.31 - - - ZSCAN12 0 genome.wustl.edu 37 6 28358850 28358850 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 6 28358850 28358850 C T SNP ZSCAN12 ENST00000361028 human ensembl 69_37n -1 known missense c.1217 p.G406E 0.277 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 167 0 0.00 93 70 42.94 - - - ZSWIM1 0 genome.wustl.edu 37 20 44512102 44512102 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 20 44512102 44512102 G A SNP ZSWIM1 ENST00000372520 human ensembl 69_37n +1 known missense c.871 p.A291T 0.001 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 116 0 0.00 69 47 40.52 - - - ZSWIM4 0 genome.wustl.edu 37 19 13936462 13936462 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5f080655-65bd-42af-8cde-15dc2d255f3c fdeda5fc-8cdb-45d8-bd01-1caa1c068af0 19 13936462 13936462 G A SNP ZSWIM4 ENST00000254323 human ensembl 69_37n +1 known missense c.1963 p.A655T 0.994 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 33 0 0.00 19 23 54.76 - - -