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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AARS2 0 genome.wustl.edu 37 6 44279178 44279178 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 44279178 44279178 T G SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.530 p.K177T 0.033 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 tier1 - - 74 0 0.00 58 13 18.31 AASDH 0 genome.wustl.edu 37 4 57248651 57248652 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 57248651 57248652 - T INS AASDH ENST00000205214 human ensembl 74_37 -1 known frame_shift_ins c.343_342 p.Q114fs 0.961:0.960 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 tier1 36 0 0.00 37 21 36.21 ABCA10 0 genome.wustl.edu 37 17 67170425 67170425 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 67170425 67170425 A - DEL ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_del c.3159 p.F1053fs 0.047 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 tier1 64 0 0.00 33 35 51.47 ABCA11P 0 genome.wustl.edu 37 4 419621 419621 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 419621 419621 C T SNP ABCA11P ENST00000451020 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors ABCA11P HGNC ENSG00000251595 tier1 - - 76 0 0.00 64 10 13.51 ABCA13 0 genome.wustl.edu 37 7 48392078 48392078 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 48392078 48392078 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.10682 p.S3561N 0.993 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 50 0 0.00 37 8 17.78 ABCA3 0 genome.wustl.edu 37 16 2374411 2374411 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 2374411 2374411 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known silent c.441 p.P147 0.612 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 tier1 - - 29 0 0.00 15 4 21.05 ABCB10 0 genome.wustl.edu 37 1 229683352 229683352 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 229683352 229683352 A G SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.815 p.I272T 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 73 0 0.00 52 3 5.45 ABCB4 0 genome.wustl.edu 37 7 87074282 87074282 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 87074282 87074282 A - DEL ABCB4 ENST00000265723 human ensembl 74_37 -1 known frame_shift_del c.1015 p.S339fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 tier1 48 0 0.00 34 10 22.73 ABCC11 0 genome.wustl.edu 37 16 48264360 48264360 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 48264360 48264360 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.224 p.R75H 0.941 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 rs148400454 - 76 0 0.00 47 20 29.85 ABCC4 0 genome.wustl.edu 37 13 95696013 95696013 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 95696013 95696013 G A SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.3658 p.R1220W 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 tier1 rs200017194 - 63 0 0.00 38 23 37.70 ABCC5 0 genome.wustl.edu 37 3 183665256 183665257 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 183665256 183665257 - A INS ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_ins c.3270_3269 p.L1090fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 tier1 31 0 0.00 21 6 22.22 ABCD1 0 genome.wustl.edu 37 X 153009046 153009046 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 153009046 153009046 C T SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known silent c.2095 p.L699 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 tier1 - - 94 0 0.00 54 5 8.47 ABCD3 0 genome.wustl.edu 37 1 94982784 94982784 + RNA SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 94982784 94982784 T A SNP ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.274 - - - no_errors ABCD3 HGNC ENSG00000117528 tier1 - - 28 0 0.00 27 6 18.18 ABCE1 0 genome.wustl.edu 37 4 146029243 146029243 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 146029243 146029243 C T SNP ABCE1 ENST00000296577 human ensembl 74_37 +1 known missense c.266 p.A89V 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like,prints_ABC_E pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 tier1 - - 50 0 0.00 47 27 36.49 ABCG8 0 genome.wustl.edu 37 2 44101062 44101062 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 44101062 44101062 G A SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known missense c.1348 p.A450T 0.997 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 tier1 - - 45 0 0.00 32 7 17.95 ABI3 0 genome.wustl.edu 37 17 47293972 47293972 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 47293972 47293972 G A SNP ABI3 ENST00000225941 human ensembl 74_37 +1 known missense c.197 p.G66D 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors ABI3 HGNC ENSG00000108798 tier1 - - 34 0 0.00 19 5 20.83 ACAA2 0 genome.wustl.edu 37 18 47329181 47329182 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 47329181 47329182 - A INS ACAA2 ENST00000285093 human ensembl 74_37 -1 known frame_shift_ins c.59_58 p.Y20fs 0.687:0.766 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 tier1 51 0 0.00 21 9 30.00 ACACB 0 genome.wustl.edu 37 12 109634881 109634881 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 109634881 109634881 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.2550 p.H850 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 rs138898549 - 35 0 0.00 41 6 12.77 ACAD11 0 genome.wustl.edu 37 3 132363673 132363674 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 132363673 132363674 0 T INS ACAD11 ENST00000264990 human ensembl 74_37 -1 known frame_shift_ins c.217_216 p.P72fs 1.000:0.997 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 118 0 0.00 107 11 9.32 ACAP3 0 genome.wustl.edu 37 1 1229556 1229556 + Missense_Mutation SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 1229556 1229556 G C SNP ACAP3 ENST00000353662 human ensembl 74_37 -1 known missense c.1938 p.F646L 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,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 ACAP3 HGNC ENSG00000131584 tier1 - - 25 0 0.00 10 3 23.08 ACR 0 genome.wustl.edu 37 22 51183225 51183225 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 51183225 51183225 G A SNP ACR ENST00000216139 human ensembl 74_37 +1 known missense c.856 p.A286T 0.996 pirsf_Pept_S1A_acrosin,superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors ACR HGNC ENSG00000100312 tier1 - - 84 0 0.00 59 9 13.24 ACR 0 genome.wustl.edu 37 22 51183254 51183255 + Frame_Shift_Del DEL TA TA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 51183254 51183255 TA - DEL ACR ENST00000216139 human ensembl 74_37 +1 known frame_shift_del c.885_886 p.M296fs 0.000:0.001 pirsf_Pept_S1A_acrosin pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors ACR HGNC ENSG00000100312 tier1 76 0 0.00 60 14 18.92 ACSBG2 0 genome.wustl.edu 37 19 6147615 6147615 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 6147615 6147615 A - DEL ACSBG2 ENST00000252669 human ensembl 74_37 +1 known frame_shift_del c.226 p.K77fs 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 tier1 74 0 0.00 64 9 12.33 ACSL6 0 genome.wustl.edu 37 5 131321105 131321105 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 131321105 131321105 G A SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known missense c.911 p.T304M 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 tier1 - - 33 0 0.00 34 11 24.44 ACSS1 0 genome.wustl.edu 37 20 25038639 25038639 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 25038639 25038639 G A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.100 p.P34S 0.000 NULL pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 tier1 - - 23 0 0.00 5 3 37.50 ACTA2 0 genome.wustl.edu 37 10 90701031 90701031 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 90701031 90701031 G T SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.571 p.L191I 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 tier1 - - 61 0 0.00 71 4 5.33 ACTBP12 0 genome.wustl.edu 37 1 92694219 92694219 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 92694219 92694219 G T SNP ACTBP12 ENST00000594933 human ensembl 74_37 -1 known rna NULL NULL 0.590 - - - no_errors ACTBP12 HGNC ENSG00000233125 tier1 - - 28 0 0.00 28 5 15.15 ACTL8 0 genome.wustl.edu 37 1 18152879 18152879 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 18152879 18152879 C A SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known silent c.966 p.S322 0.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 tier1 - - 62 0 0.00 66 18 21.43 ACTN3 0 genome.wustl.edu 37 11 66314452 66314452 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 66314452 66314452 G A SNP ACTN3 ENST00000511191 human ensembl 74_37 +1 known missense c.44 p.G15E 0.911 NULL NULL - no_errors ACTN3 HGNC ENSG00000248746 tier1 - - 108 0 0.00 91 14 13.33 ACTN4 0 genome.wustl.edu 37 19 39208640 39208640 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 39208640 39208640 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.1217 p.R406H 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 55 0 0.00 40 8 16.67 ACTR3B 0 genome.wustl.edu 37 7 152549324 152549324 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 152549324 152549324 C T SNP ACTR3B ENST00000256001 human ensembl 74_37 +1 known silent c.1065 p.G355 0.114 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3B HGNC ENSG00000133627 tier1 rs144915052 - 50 0 0.00 38 11 22.45 ACTR3B 0 genome.wustl.edu 37 7 152550626 152550626 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 152550626 152550626 C T SNP ACTR3B ENST00000256001 human ensembl 74_37 +1 known silent c.1125 p.Y375 0.930 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3B HGNC ENSG00000133627 tier1 - - 27 0 0.00 20 6 23.08 ACTRT2 0 genome.wustl.edu 37 1 2939156 2939156 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 2939156 2939156 G - DEL ACTRT2 ENST00000378404 human ensembl 74_37 +1 known frame_shift_del c.906 p.G304fs 0.003 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 tier1 75 0 0.00 69 8 10.39 ACY1 0 genome.wustl.edu 37 3 52022810 52022810 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 52022810 52022810 C T SNP ACY1 ENST00000458031 human ensembl 74_37 +1 known missense c.1300 p.P434S 1.000 pfam_Peptidase_M20,tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ENSG00000243989 tier1 - - 50 0 0.00 27 4 12.50 ADAD2 0 genome.wustl.edu 37 16 84228780 84228780 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 84228780 84228780 C T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.929 p.A310V 0.970 smart_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 tier1 - - 122 0 0.00 111 9 7.50 ADAM2 0 genome.wustl.edu 37 8 39603995 39603995 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 39603995 39603995 C T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.2170 p.D724N 0.987 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 - - 69 0 0.00 98 17 14.78 ADAM30 0 genome.wustl.edu 37 1 120437822 120437823 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 120437822 120437823 0 A INS ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_ins c.1138_1137 p.K379fs 0.000:0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 54 0 0.00 53 6 10.17 ADAM3A 0 genome.wustl.edu 37 8 39313017 39313018 + RNA INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 39313017 39313018 - T INS ADAM3A ENST00000460383 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors ADAM3A HGNC ENSG00000197475 tier1 36 0 0.00 19 8 29.63 ADAMTS2 0 genome.wustl.edu 37 5 178699931 178699931 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 178699931 178699931 C - DEL ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known frame_shift_del c.669 p.P224fs 0.001 prints_Pept_M12B_ADAM-TS2 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 96 0 0.00 82 11 11.83 ADAMTS20 0 genome.wustl.edu 37 12 43817528 43817528 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 43817528 43817528 C - DEL ADAMTS20 ENST00000553158 human ensembl 74_37 -1 known frame_shift_del c.4484 p.G1495fs 0.000 NULL pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 61 0 0.00 37 9 19.57 ADAMTS9 0 genome.wustl.edu 37 3 64582642 64582642 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 64582642 64582642 G T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.4043 p.S1348Y 1.000 pfam_Thrombospondin_1_rpt,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,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 31 0 0.00 35 6 14.63 ADC 0 genome.wustl.edu 37 1 33549639 33549639 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 33549639 33549639 C T SNP ADC ENST00000373441 human ensembl 74_37 +1 known missense c.190 p.R64W 0.999 pfam_De-COase2_N pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 tier1 rs148628180 - 37 0 0.00 24 12 33.33 ADCK5 0 genome.wustl.edu 37 8 145616338 145616338 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 145616338 145616338 A G SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known missense c.548 p.D183G 0.999 superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 tier1 - - 44 0 0.00 46 5 9.80 ADCY2 0 genome.wustl.edu 37 5 7782358 7782358 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 7782358 7782358 A G SNP ADCY2 ENST00000382531 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 78 0 0.00 62 13 17.33 ADCY4 0 genome.wustl.edu 37 14 24795358 24795358 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 24795358 24795358 G - DEL ADCY4 ENST00000310677 human ensembl 74_37 -1 known frame_shift_del c.1582 p.R528fs 0.554 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 tier1 31 0 0.00 19 8 29.63 ADCY8 0 genome.wustl.edu 37 8 132052482 132052482 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 132052482 132052482 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.98 p.P33L 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 ADCY8 HGNC ENSG00000155897 tier1 - - 20 0 0.00 14 5 26.32 ADCY8 0 genome.wustl.edu 37 8 132051742 132051742 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 132051742 132051742 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.838 p.A280T 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 ADCY8 HGNC ENSG00000155897 36 0 0.00 43 5 10.42 ADCY9 0 genome.wustl.edu 37 16 4029160 4029160 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 4029160 4029160 G T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.2636 p.A879D 0.934 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 tier1 - - 61 0 0.00 65 4 5.80 ADD3 0 genome.wustl.edu 37 10 111884031 111884031 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 111884031 111884031 C T SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.1400 p.T467M 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 tier1 - - 39 0 0.00 32 6 15.79 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 tier1 37 0 0.00 15 19 55.88 ADH6 0 genome.wustl.edu 37 4 100131401 100131401 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 100131401 100131401 T C SNP ADH6 ENST00000394899 human ensembl 74_37 -1 known silent c.405 p.G135 0.802 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 tier1 - - 78 0 0.00 61 4 6.06 ADORA1 0 genome.wustl.edu 37 1 203134456 203134456 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 203134456 203134456 G A SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known missense c.409 p.V137M 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 tier1 - - 60 0 0.00 52 22 29.73 ADRA2A 0 genome.wustl.edu 37 10 112837856 112837856 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 112837856 112837856 G - DEL ADRA2A ENST00000280155 human ensembl 74_37 +1 known frame_shift_del c.102 p.G36fs 0.354 prints_ADRA2A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 tier1 27 0 0.00 15 8 34.78 ADRBK1 0 genome.wustl.edu 37 11 67051717 67051717 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 67051717 67051717 C - DEL ADRBK1 ENST00000308595 human ensembl 74_37 +1 known frame_shift_del c.1527 p.L511fs 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 tier1 44 0 0.00 36 12 25.00 ADTRP 0 genome.wustl.edu 37 6 11778984 11778984 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 11778984 11778984 C A SNP ADTRP ENST00000379413 human ensembl 74_37 -1 known missense c.9 p.K3N 0.000 NULL pfam_Far-17a_AIG1 - no_errors ADTRP HGNC ENSG00000111863 tier1 - - 27 0 0.00 27 14 34.15 AFAP1 0 genome.wustl.edu 37 4 7776485 7776485 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 7776485 7776485 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known silent c.2043 p.A681 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 tier1 - - 79 0 0.00 67 6 8.22 AFAP1L1 0 genome.wustl.edu 37 5 148712387 148712387 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 148712387 148712387 C T SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.2105 p.A702V 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 tier1 - - 37 0 0.00 33 9 21.43 AFAP1L2 0 genome.wustl.edu 37 10 116054776 116054779 + RNA DEL AAAA AAAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 116054776 116054779 AAAA - DEL AFAP1L2 ENST00000491814 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.008 - - - no_errors AFAP1L2 HGNC ENSG00000169129 tier1 101 0 0.00 71 4 5.33 AFF2 0 genome.wustl.edu 37 X 148069012 148069012 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 148069012 148069012 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.3739 p.V1247I 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 47 0 0.00 16 6 27.27 AFF3 0 genome.wustl.edu 37 2 100209760 100209760 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 100209760 100209760 A G SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.2438 p.V813A 0.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 55 0 0.00 57 4 6.45 AFG3L2 0 genome.wustl.edu 37 18 12329672 12329672 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 12329672 12329672 G A SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known silent c.2286 p.G762 1.000 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 tier1 - - 58 0 0.00 54 5 8.47 AGA 0 genome.wustl.edu 37 4 178355571 178355571 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 178355571 178355571 A G SNP AGA ENST00000264595 human ensembl 74_37 -1 known silent c.771 p.T257 0.248 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors AGA HGNC ENSG00000038002 tier1 - - 42 0 0.00 49 17 25.76 AGBL3 0 genome.wustl.edu 37 7 134678279 134678280 + Frame_Shift_Del DEL AC AC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 134678279 134678280 AC - DEL AGBL3 ENST00000458078 human ensembl 74_37 +1 known frame_shift_del c.82_83 p.Q29fs 0.991:0.999 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 tier1 65 0 0.00 56 9 13.85 AGXT 0 genome.wustl.edu 37 2 241817492 241817492 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 241817492 241817492 G T SNP AGXT ENST00000307503 human ensembl 74_37 +1 known missense c.996 p.W332C 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 tier1 - - 74 0 0.00 46 10 17.86 AHCTF1 0 genome.wustl.edu 37 1 247002901 247002901 + RNA SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 247002901 247002901 T G SNP AHCTF1 ENST00000470300 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 26 0 0.00 26 4 13.33 AHNAK2 0 genome.wustl.edu 37 14 105420232 105420232 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 105420232 105420232 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.1556 p.A519V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 82 0 0.00 47 6 11.32 AICDA 0 genome.wustl.edu 37 12 8756903 8756903 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 8756903 8756903 C T SNP AICDA ENST00000229335 human ensembl 74_37 -1 known missense c.574 p.A192T 1.000 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors AICDA HGNC ENSG00000111732 tier1 - - 33 0 0.00 25 6 19.35 AICDA 0 genome.wustl.edu 37 12 8757882 8757882 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 8757882 8757882 C T SNP AICDA ENST00000229335 human ensembl 74_37 -1 known missense c.356 p.R119H 0.082 superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors AICDA HGNC ENSG00000111732 tier1 - - 41 0 0.00 34 11 24.44 AIFM2 0 genome.wustl.edu 37 10 71880273 71880273 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 71880273 71880273 G A SNP AIFM2 ENST00000307864 human ensembl 74_37 -1 known missense c.497 p.P166L 0.988 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like - no_errors AIFM2 HGNC ENSG00000042286 tier1 - - 43 0 0.00 44 5 10.20 AIM2 0 genome.wustl.edu 37 1 159032487 159032487 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 159032487 159032487 T - DEL AIM2 ENST00000368130 human ensembl 74_37 -1 known frame_shift_del c.1027 p.T343fs 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 tier1 58 0 0.00 22 26 54.17 AK9 0 genome.wustl.edu 37 6 109830572 109830572 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 109830572 109830572 T - DEL AK9 ENST00000424296 human ensembl 74_37 -1 known frame_shift_del c.4291 p.I1431fs 0.005 pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 37 0 0.00 21 7 25.00 AK9 0 genome.wustl.edu 37 6 109906340 109906343 + Frame_Shift_Del DEL TTCT TTCT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTCT TTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 109906340 109906343 TTCT - DEL AK9 ENST00000424296 human ensembl 74_37 -1 known frame_shift_del c.2100_2097 p.E700fs 0.824:0.825:0.777:0.437 superfamily_P-loop_NTPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 88 0 0.00 63 9 12.50 AKAP13 0 genome.wustl.edu 37 15 86122542 86122542 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 86122542 86122542 C A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.1243 p.L415I 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 30 0 0.00 33 10 23.26 AKAP13 0 genome.wustl.edu 37 15 86278265 86278265 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 86278265 86278265 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.7337 p.T2446I 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 38 0 0.00 35 4 10.26 AKAP13 0 genome.wustl.edu 37 15 86284337 86284337 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 86284337 86284337 G A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.7681 p.A2561T 0.824 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 69 0 0.00 47 5 9.62 AKAP6 0 genome.wustl.edu 37 14 33293133 33293133 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 33293133 33293133 T C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.6114 p.C2038 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 25 0 0.00 23 5 17.86 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 tier1 50 0 0.00 32 8 20.00 AKAP9 0 genome.wustl.edu 37 7 91603085 91603085 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 91603085 91603085 A - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.145 p.K51fs 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 34 0 0.00 23 6 20.69 AKIRIN2 0 genome.wustl.edu 37 6 88411208 88411208 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 88411208 88411208 C A SNP AKIRIN2 ENST00000257787 human ensembl 74_37 -1 known missense c.195 p.E65D 1.000 NULL NULL - no_errors AKIRIN2 HGNC ENSG00000135334 tier1 - - 12 0 0.00 9 6 40.00 ALCAM 0 genome.wustl.edu 37 3 105250904 105250904 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 105250904 105250904 A - DEL ALCAM ENST00000306107 human ensembl 74_37 +1 known frame_shift_del c.453 p.K153fs 0.891 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 tier1 43 0 0.00 24 9 27.27 ALDH16A1 0 genome.wustl.edu 37 19 49964929 49964929 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 49964929 49964929 G A SNP ALDH16A1 ENST00000293350 human ensembl 74_37 +1 known missense c.631 p.A211T 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 tier1 - - 68 0 0.00 69 6 8.00 ALDH1B1 0 genome.wustl.edu 37 9 38396185 38396185 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 38396185 38396185 G A SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known missense c.440 p.R147Q 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 tier1 - - 27 0 0.00 12 7 36.84 ALDH2 0 genome.wustl.edu 37 12 112229927 112229927 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 112229927 112229927 G - DEL ALDH2 ENST00000261733 human ensembl 74_37 +1 known frame_shift_del c.858 p.K289fs 0.991 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 tier1 68 0 0.00 43 8 15.69 ALG11 0 genome.wustl.edu 37 13 52593151 52593152 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 52593151 52593152 - A INS ALG11 ENST00000521508 human ensembl 74_37 +1 known frame_shift_ins c.147_148 p.L51fs 1.000:1.000 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 tier1 74 0 0.00 65 9 12.16 ALG12 0 genome.wustl.edu 37 22 50297990 50297991 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 50297990 50297991 - G INS ALG12 ENST00000330817 human ensembl 74_37 -1 known frame_shift_ins c.1157_1156 p.Q386fs 0.074:0.002 NULL pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 tier1 84 0 0.00 48 23 32.39 ALK 0 genome.wustl.edu 37 2 29445225 29445225 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 29445225 29445225 T G SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.3500 p.E1167A 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 42 0 0.00 32 9 21.95 ALMS1 0 genome.wustl.edu 37 2 73677340 73677340 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 73677340 73677340 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.3683 p.T1228I 0.001 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 36 0 0.00 29 19 39.58 ALPL 0 genome.wustl.edu 37 1 21894731 21894731 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 21894731 21894731 G A SNP ALPL ENST00000374832 human ensembl 74_37 +1 known silent c.783 p.P261 0.003 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 ALPL HGNC ENSG00000162551 tier1 - - 52 0 0.00 49 16 24.62 ALX4 0 genome.wustl.edu 37 11 44331253 44331253 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 44331253 44331253 C T SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known silent c.360 p.P120 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 tier1 - - 62 0 0.00 37 9 19.57 AMBRA1 0 genome.wustl.edu 37 11 46564329 46564329 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 46564329 46564329 C A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.1238 p.G413V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 20 0 0.00 17 9 34.62 AMELX 0 genome.wustl.edu 37 X 11316886 11316886 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 11316886 11316886 G A SNP AMELX ENST00000380712 human ensembl 74_37 +1 known silent c.405 p.P135 0.521 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 tier1 - - 208 0 0.00 80 21 20.39 AMOTL1 0 genome.wustl.edu 37 11 94528221 94528221 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 94528221 94528221 C A SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known missense c.94 p.L32I 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 tier1 - - 66 0 0.00 40 8 16.67 AMOTL1 0 genome.wustl.edu 37 11 94533455 94533455 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 94533455 94533455 C - DEL AMOTL1 ENST00000433060 human ensembl 74_37 +1 known frame_shift_del c.1099 p.P368fs 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 tier1 40 0 0.00 31 8 20.51 AMY1C 0 genome.wustl.edu 37 1 104297163 104297163 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 104297163 104297163 G A SNP AMY1C ENST00000370079 human ensembl 74_37 +1 known silent c.921 p.A307 0.939 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1C HGNC ENSG00000187733 tier1 - - 94 0 0.00 64 18 21.95 AMY1C 0 genome.wustl.edu 37 1 104297407 104297407 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 104297407 104297407 C T SNP AMY1C ENST00000370079 human ensembl 74_37 +1 known missense c.1072 p.R358C 0.999 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1C HGNC ENSG00000187733 tier1 - - 35 0 0.00 38 7 15.56 ANAPC1 0 genome.wustl.edu 37 2 112614258 112614259 + Splice_Site INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 112614258 112614259 - A INS ANAPC1 ENST00000341068 human ensembl 74_37 -1 known splice_site_ins c.1450-3_1450-2 e12-2 0.992:0.087 - - - no_errors ANAPC1 HGNC ENSG00000153107 tier1 177 0 0.00 188 32 14.55 ANAPC1 0 genome.wustl.edu 37 2 112614257 112614258 + Splice_Site INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 112614257 112614258 0 T INS ANAPC1 ENST00000341068 human ensembl 74_37 -1 known splice_site_ins c.1450-2_1450-1 e12-1 0.994:0.992 - - - no_errors ANAPC1 HGNC ENSG00000153107 175 0 0.00 206 17 7.62 ANGPTL2 0 genome.wustl.edu 37 9 129870796 129870796 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 129870796 129870796 T C SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known missense c.215 p.N72S 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 tier1 - - 31 0 0.00 20 5 20.00 ANGPTL4 0 genome.wustl.edu 37 19 8431167 8431167 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 8431167 8431167 C T SNP ANGPTL4 ENST00000301455 human ensembl 74_37 +1 known missense c.511 p.P171S 0.001 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL4 HGNC ENSG00000167772 tier1 - - 35 0 0.00 21 9 30.00 ANK1 0 genome.wustl.edu 37 8 41553959 41553959 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 41553959 41553959 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2882 p.T961M 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 99 0 0.00 104 29 21.80 ANK2 0 genome.wustl.edu 37 4 114294594 114294594 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 114294594 114294594 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.11848 p.E3950K 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 47 0 0.00 37 12 24.49 ANK3 0 genome.wustl.edu 37 10 61819734 61819734 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 61819734 61819734 G A SNP ANK3 ENST00000355288 human ensembl 74_37 -1 known missense c.2189 p.T730I 1.000 NULL pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 63 0 0.00 33 9 21.43 ANK3 0 genome.wustl.edu 37 10 61835822 61835822 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 61835822 61835822 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.4817 p.T1606M 0.949 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 50 0 0.00 43 5 10.42 ANKMY1 0 genome.wustl.edu 37 2 241465733 241465733 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 241465733 241465733 G A SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known silent c.816 p.H272 0.001 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,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 tier1 - - 61 0 0.00 45 18 28.57 ANKRD10 0 genome.wustl.edu 37 13 111553046 111553046 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 111553046 111553046 A G SNP ANKRD10 ENST00000475809 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ANKRD10 HGNC ENSG00000088448 tier1 - - 33 0 0.00 25 5 16.67 ANKRD17 0 genome.wustl.edu 37 4 73957694 73957694 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 73957694 73957694 G A SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.5651 p.A1884V 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 ANKRD17 HGNC ENSG00000132466 tier1 - - 55 0 0.00 60 5 7.69 ANKRD19P 0 genome.wustl.edu 37 9 95588877 95588877 + RNA SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 95588877 95588877 T G SNP ANKRD19P ENST00000460854 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors ANKRD19P HGNC ENSG00000187984 tier1 - - 21 0 0.00 25 6 19.35 ANKRD20A8P 0 genome.wustl.edu 37 2 95483038 95483038 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 95483038 95483038 A 0 DEL ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.185 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 85 0 0.00 90 12 11.76 ANKRD28 0 genome.wustl.edu 37 3 15717503 15717503 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 15717503 15717503 G A SNP ANKRD28 ENST00000498713 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD28 HGNC ENSG00000206560 tier1 - - 31 0 0.00 29 7 19.44 ANKRD29 0 genome.wustl.edu 37 18 21218906 21218906 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 21218906 21218906 A G SNP ANKRD29 ENST00000592179 human ensembl 74_37 -1 known silent c.237 p.G79 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD29 HGNC ENSG00000154065 tier1 - - 61 0 0.00 62 9 12.68 ANKRD33B 0 genome.wustl.edu 37 5 10618519 10618519 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 10618519 10618519 C T SNP ANKRD33B ENST00000504806 human ensembl 74_37 +1 known silent c.441 p.D147 0.995 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33B HGNC ENSG00000164236 tier1 - - 88 0 0.00 39 21 35.00 ANKRD34B 0 genome.wustl.edu 37 5 79855769 79855769 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 79855769 79855769 G A SNP ANKRD34B ENST00000338682 human ensembl 74_37 -1 known missense c.70 p.R24C 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_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 ANKRD34B HGNC ENSG00000189127 tier1 rs201133010 - 47 0 0.00 25 13 34.21 ANKRD36C 0 genome.wustl.edu 37 2 96578015 96578015 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 96578015 96578015 T - DEL ANKRD36C ENST00000456556 human ensembl 74_37 -1 known frame_shift_del c.2630 p.K877fs 0.057 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 tier1 266 0 0.00 234 41 14.91 ANKRD49 0 genome.wustl.edu 37 11 94232497 94232498 + RNA INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 94232497 94232498 - T INS ANKRD49 ENST00000538535 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ANKRD49 HGNC ENSG00000168876 tier1 12 0 0.00 15 3 16.67 ANKRD6 0 genome.wustl.edu 37 6 90333705 90333705 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 90333705 90333705 C - DEL ANKRD6 ENST00000339746 human ensembl 74_37 +1 known frame_shift_del c.1147 p.P384fs 0.966 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 ANKRD6 HGNC ENSG00000135299 tier1 59 0 0.00 41 19 31.67 ANKRD60 0 genome.wustl.edu 37 20 56796522 56796522 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 56796522 56796522 C T SNP ANKRD60 ENST00000457363 human ensembl 74_37 -1 known missense c.599 p.R200Q 0.003 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin_supergroup - no_errors ANKRD60 HGNC ENSG00000124227 tier1 - - 54 0 0.00 40 9 18.37 ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17140438 17140438 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 17140438 17140438 T - DEL ANKRD62P1-PARP4P3 ENST00000456726 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 tier1 33 0 0.00 14 5 26.32 ANKS6 0 genome.wustl.edu 37 9 101552504 101552504 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 101552504 101552504 G A SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known silent c.744 p.G248 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_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 tier1 - - 36 0 0.00 15 5 25.00 ANLN 0 genome.wustl.edu 37 7 36445892 36445892 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 36445892 36445892 G A SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.590 p.G197D 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 tier1 - - 55 0 0.00 31 11 26.19 ANO4 0 genome.wustl.edu 37 12 101488063 101488063 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 101488063 101488063 G A SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known silent c.1731 p.T577 0.813 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 90 0 0.00 44 27 38.03 ANO8 0 genome.wustl.edu 37 19 17443959 17443961 + In_Frame_Del DEL TCC TCC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 17443959 17443961 TCC - DEL ANO8 ENST00000159087 human ensembl 74_37 -1 known in_frame_del c.440_438 p.E146in_frame_del 1.000:1.000:1.000 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 tier1 43 0 0.00 35 9 20.45 ANXA11 0 genome.wustl.edu 37 10 81923157 81923157 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 81923157 81923157 T G SNP ANXA11 ENST00000265447 human ensembl 74_37 -1 known missense c.1034 p.N345T 1.000 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ENSG00000122359 tier1 - - 59 0 0.00 37 15 28.85 ANXA7 0 genome.wustl.edu 37 10 75135834 75135835 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 75135834 75135835 AA - DEL ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004 - - - no_errors ANXA7 HGNC ENSG00000138279 tier1 42 0 0.00 30 6 16.67 AP1B1 0 genome.wustl.edu 37 22 29737580 29737580 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 29737580 29737580 G A SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known missense c.1706 p.T569M 1.000 superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 tier1 - - 52 0 0.00 39 24 38.10 AP1G1 0 genome.wustl.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 71803440 71803440 A - DEL AP1G1 ENST00000423132 human ensembl 74_37 -1 known splice_site_del c.643-1 e6-1 0.996 - - - no_errors AP1G1 HGNC ENSG00000166747 tier1 43 0 0.00 26 8 23.53 AP2A2 0 genome.wustl.edu 37 11 992535 992535 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 992535 992535 C T SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known silent c.1305 p.Y435 0.991 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 34 0 0.00 34 2 5.56 APBA1 0 genome.wustl.edu 37 9 72131557 72131557 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 72131557 72131557 G A SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known silent c.570 p.Y190 0.984 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 tier1 - - 50 0 0.00 37 9 19.57 APBB1 0 genome.wustl.edu 37 11 6423942 6423942 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 6423942 6423942 C T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known missense c.1118 p.R373H 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 37 0 0.00 45 6 11.76 APOA1 0 genome.wustl.edu 37 11 116706756 116706756 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 116706756 116706756 C T SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known missense c.572 p.S191N 0.980 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 41 0 0.00 36 6 14.29 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 tier1 22 0 0.00 28 4 12.50 APP 0 genome.wustl.edu 37 21 27264106 27264106 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 27264106 27264106 C T SNP APP ENST00000346798 human ensembl 74_37 -1 known silent c.2139 p.A713 0.996 pfam_Amyloid_glyco_Abeta,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 tier1 - - 62 0 0.00 43 19 30.65 APP 0 genome.wustl.edu 37 21 27269931 27269931 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 27269931 27269931 G A SNP APP ENST00000346798 human ensembl 74_37 -1 known missense c.2018 p.A673V 0.997 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 tier1 rs193922916 - 72 0 0.00 54 6 10.00 APPBP2 0 genome.wustl.edu 37 17 58539518 58539518 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 58539518 58539518 A - DEL APPBP2 ENST00000592995 human ensembl 74_37 -1 known rna NULL NULL 0.694 - - - no_errors APPBP2 HGNC ENSG00000062725 tier1 43 0 0.00 24 17 41.46 AQP3 0 genome.wustl.edu 37 9 33442212 33442212 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 33442212 33442212 G - DEL AQP3 ENST00000493581 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors AQP3 HGNC ENSG00000165272 tier1 18 0 0.00 8 5 38.46 ARAP1 0 genome.wustl.edu 37 11 72425237 72425238 + Frame_Shift_Ins INS - - GG TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 72425237 72425238 - GG INS ARAP1 ENST00000393609 human ensembl 74_37 -1 known frame_shift_ins c.639_638 p.E214fs 0.020:0.300 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,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 tier1 50 0 0.00 50 7 12.28 ARAP2 0 genome.wustl.edu 37 4 36212182 36212182 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 36212182 36212182 T - DEL ARAP2 ENST00000303965 human ensembl 74_37 -1 known frame_shift_del c.1317 p.A440fs 0.982 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,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 ARAP2 HGNC ENSG00000047365 tier1 64 0 0.00 64 14 17.95 ARFGEF2 0 genome.wustl.edu 37 20 47602031 47602031 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 47602031 47602031 A T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.2157 p.E719D 0.780 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 73 0 0.00 64 4 5.88 ARHGAP11B 0 genome.wustl.edu 37 15 30926445 30926445 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 30926445 30926445 T 0 DEL ARHGAP11B ENST00000428041 human ensembl 74_37 +1 known frame_shift_del c.370 p.F125fs 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11B HGNC ENSG00000187951 48 0 0.00 18 9 33.33 ARHGAP12 0 genome.wustl.edu 37 10 32096255 32096255 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 32096255 32096255 A - DEL ARHGAP12 ENST00000492028 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP12 HGNC ENSG00000165322 tier1 42 0 0.00 39 11 22.00 ARHGAP17 0 genome.wustl.edu 37 16 24960750 24960750 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 24960750 24960750 G A SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known missense c.1102 p.P368S 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 tier1 - - 56 0 0.00 38 5 11.63 ARHGAP21 0 genome.wustl.edu 37 10 24889664 24889664 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 24889664 24889664 C T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.3043 p.D1015N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 61 0 0.00 73 4 5.19 ARHGAP21 0 genome.wustl.edu 37 10 24889717 24889717 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 24889717 24889717 T A SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.2990 p.D997V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 60 0 0.00 58 16 21.33 ARHGAP23 0 genome.wustl.edu 37 17 36622835 36622835 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 36622835 36622835 G T SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.911 p.R304L 1.000 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 tier1 - - 11 0 0.00 13 4 23.53 ARHGAP23 0 genome.wustl.edu 37 17 36634129 36634129 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 36634129 36634129 G A SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.2428 p.E810K 1.000 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 tier1 - - 72 0 0.00 54 9 14.29 ARHGAP28 0 genome.wustl.edu 37 18 6873435 6873435 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 6873435 6873435 G T SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.982 p.G328C 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 55 0 0.00 44 11 20.00 ARHGAP33 0 genome.wustl.edu 37 19 36278975 36278975 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 36278975 36278975 G A SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.3508 p.V1170I 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 tier1 - - 21 0 0.00 15 5 25.00 ARHGAP35 0 genome.wustl.edu 37 19 47424426 47424426 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 47424426 47424426 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.2494 p.R832W 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 tier1 - - 89 0 0.00 51 22 30.14 ARHGAP36 0 genome.wustl.edu 37 X 130217937 130217937 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 130217937 130217937 G A SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known silent c.549 p.G183 0.498 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 tier1 - - 61 0 0.00 35 11 23.91 ARHGEF15 0 genome.wustl.edu 37 17 8222397 8222397 + Silent SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 8222397 8222397 T G SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known silent c.2106 p.S702 0.998 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 32 0 0.00 20 3 13.04 ARHGEF26 0 genome.wustl.edu 37 3 153840548 153840548 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 153840548 153840548 C T SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.767 p.A256V 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 tier1 - - 96 0 0.00 61 22 26.51 ARHGEF26 0 genome.wustl.edu 37 3 153935686 153935686 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 153935686 153935686 G A SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.1874 p.R625Q 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 tier1 - - 104 0 0.00 100 17 14.53 ARHGEF28 0 genome.wustl.edu 37 5 73181702 73181702 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 73181702 73181702 G A SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known missense c.3083 p.R1028H 0.998 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 22 0 0.00 29 2 6.45 ARHGEF33 0 genome.wustl.edu 37 2 39164523 39164523 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 39164523 39164523 C A SNP ARHGEF33 ENST00000398800 human ensembl 74_37 +1 known missense c.613 p.L205I 0.700 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF33 HGNC ENSG00000214694 tier1 - - 26 0 0.00 21 5 19.23 ARHGEF35 0 genome.wustl.edu 37 7 143884145 143884145 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 143884145 143884145 C T SNP ARHGEF35 ENST00000378115 human ensembl 74_37 -1 known silent c.1332 p.L444 0.045 NULL NULL - no_errors ARHGEF35 HGNC ENSG00000213214 66 0 0.00 48 3 5.88 ARHGEF40 0 genome.wustl.edu 37 14 21542955 21542956 + In_Frame_Ins INS - - GAG TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 21542955 21542956 - GAG INS ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known in_frame_ins c.1066_1067 p.360in_frame_insG 0.761:0.797 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 tier1 41 0 0.00 35 8 18.60 ARID1B 0 genome.wustl.edu 37 6 157527517 157527517 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 157527517 157527517 G A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.5362 p.E1788K 0.987 NULL 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 tier1 - - 42 0 0.00 23 8 25.81 ARID3B 0 genome.wustl.edu 37 15 74883534 74883534 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 74883534 74883534 C T SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known silent c.924 p.A308 0.975 superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 tier1 - - 82 0 0.00 41 16 28.07 ARID4B 0 genome.wustl.edu 37 1 235345232 235345233 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 235345232 235345233 - T INS ARID4B ENST00000264183 human ensembl 74_37 -1 known frame_shift_ins c.3002_3001 p.T1001fs 0.001:0.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 tier1 101 0 0.00 69 28 28.87 ARL10 0 genome.wustl.edu 37 5 175795902 175795902 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 175795902 175795902 C T SNP ARL10 ENST00000310389 human ensembl 74_37 +1 known missense c.478 p.R160W 0.996 pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL10 HGNC ENSG00000175414 tier1 rs140105577 - 103 0 0.00 94 20 17.54 ARL13B 0 genome.wustl.edu 37 3 93768343 93768343 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 93768343 93768343 C T SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known missense c.1118 p.T373M 0.956 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 tier1 - - 80 0 0.00 37 16 30.19 ARPC1A 0 genome.wustl.edu 37 7 98963741 98963742 + RNA INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 98963741 98963742 - T INS ARPC1A ENST00000463009 human ensembl 74_37 +1 known rna NULL NULL 0.031:0.995 - - - no_errors ARPC1A HGNC ENSG00000241685 tier1 69 0 0.00 37 17 31.48 ARPC5 0 genome.wustl.edu 37 1 183595641 183595641 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 183595641 183595641 T - DEL ARPC5 ENST00000462965 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARPC5 HGNC ENSG00000162704 tier1 34 0 0.00 27 4 12.90 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 tier1 29 0 0.00 19 4 17.39 ARV1 0 genome.wustl.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 231131567 231131567 A - DEL ARV1 ENST00000310256 human ensembl 74_37 +1 known frame_shift_del c.510 p.K173fs 0.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 tier1 56 0 0.00 37 12 24.49 ASCC2 0 genome.wustl.edu 37 22 30221678 30221678 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 30221678 30221678 C T SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known missense c.173 p.R58H 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 tier1 - - 73 0 0.00 62 7 10.00 ASCC3 0 genome.wustl.edu 37 6 101296336 101296336 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 101296336 101296336 A - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.489 p.F163fs 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 26 0 0.00 13 4 23.53 ASGR1 0 genome.wustl.edu 37 17 7080615 7080615 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7080615 7080615 C T SNP ASGR1 ENST00000269299 human ensembl 74_37 -1 known missense c.101 p.R34H 0.603 pfam_Lectin_N pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ENSG00000141505 tier1 - - 63 0 0.00 54 12 18.18 ASIC2 0 genome.wustl.edu 37 17 31618963 31618963 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 31618963 31618963 C - DEL ASIC2 ENST00000225823 human ensembl 74_37 -1 known frame_shift_del c.171 p.R58fs 0.990 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 tier1 35 0 0.00 29 3 9.38 ASMT 0 genome.wustl.edu 37 X 1761874 1761874 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 1761874 1761874 A G SNP ASMT ENST00000381241 human ensembl 74_37 +1 known silent c.1089 p.G363 0.762 pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 tier1 - - 150 0 0.00 100 8 7.41 ASPDH 0 genome.wustl.edu 37 19 51015803 51015803 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 51015803 51015803 C T SNP ASPDH ENST00000389208 human ensembl 74_37 -1 known missense c.467 p.G156D 0.999 NULL pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd - no_errors ASPDH HGNC ENSG00000204653 tier1 - - 76 0 0.00 66 6 8.33 ASPHD1 0 genome.wustl.edu 37 16 29912622 29912622 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 29912622 29912622 C T SNP ASPHD1 ENST00000308748 human ensembl 74_37 +1 known silent c.330 p.S110 0.827 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 tier1 - - 32 0 0.00 19 10 34.48 ASPHD2 0 genome.wustl.edu 37 22 26830127 26830127 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 26830127 26830127 C T SNP ASPHD2 ENST00000215906 human ensembl 74_37 +1 known silent c.546 p.D182 0.234 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 tier1 - - 51 0 0.00 44 9 16.98 ASTE1 0 genome.wustl.edu 37 3 130733047 130733048 + Frame_Shift_Del DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 130733047 130733048 TT - DEL ASTE1 ENST00000264992 human ensembl 74_37 -1 known frame_shift_del c.1894_1893 p.R632fs 0.014:0.001 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 40 0 0.00 20 18 47.37 ATF6B 0 genome.wustl.edu 37 6 32095989 32095989 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 32095989 32095989 C - DEL ATF6B ENST00000468502 human ensembl 74_37 -1 known rna NULL NULL 0.565 - - - no_errors ATF6B HGNC ENSG00000213676 tier1 60 0 0.00 41 8 16.33 ATG2A 0 genome.wustl.edu 37 11 64677266 64677266 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 64677266 64677266 C A SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.1994 p.R665L 0.998 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 tier1 - - 71 0 0.00 46 13 22.03 ATG2B 0 genome.wustl.edu 37 14 96788614 96788614 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 96788614 96788614 A - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATG2B HGNC ENSG00000066739 tier1 25 0 0.00 30 11 26.83 ATG7 0 genome.wustl.edu 37 3 11468322 11468322 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 11468322 11468322 G T SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known missense c.2001 p.K667N 1.000 tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 tier1 - - 77 0 0.00 66 12 15.38 ATL1 0 genome.wustl.edu 37 14 51026987 51026987 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 51026987 51026987 G A SNP ATL1 ENST00000357032 human ensembl 74_37 +1 known missense c.4 p.A2T 1.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 tier1 - - 49 0 0.00 36 9 20.00 ATOH7 0 genome.wustl.edu 37 10 69991281 69991281 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 69991281 69991281 G A SNP ATOH7 ENST00000373673 human ensembl 74_37 -1 known missense c.154 p.R52C 0.999 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH7 HGNC ENSG00000179774 tier1 - - 40 0 0.00 32 7 17.95 ATP13A2 0 genome.wustl.edu 37 1 17316221 17316221 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 17316221 17316221 C A SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.2574 p.Q858H 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 tier1 - - 91 0 0.00 70 12 14.63 ATP13A3 0 genome.wustl.edu 37 3 194174452 194174452 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 194174452 194174452 A T SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.821 p.V274D 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 tier1 - - 52 0 0.00 34 14 29.17 ATP1A1 0 genome.wustl.edu 37 1 116926693 116926693 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 116926693 116926693 A - DEL ATP1A1 ENST00000295598 human ensembl 74_37 +1 known frame_shift_del c.70 p.K25fs 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 tier1 91 0 0.00 43 17 28.33 ATP2A1 0 genome.wustl.edu 37 16 28909403 28909403 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 28909403 28909403 C T SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.1502 p.A501V 1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 tier1 - - 57 0 0.00 50 7 12.28 ATP2A1 0 genome.wustl.edu 37 16 28912091 28912091 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 28912091 28912091 G A SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.1954 p.A652T 0.998 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 50 0 0.00 47 6 11.32 ATP4A 0 genome.wustl.edu 37 19 36046453 36046454 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 36046453 36046454 - T INS ATP4A ENST00000262623 human ensembl 74_37 -1 known frame_shift_ins c.2046_2045 p.D683fs 1.000:1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 tier1 60 0 0.00 38 10 20.83 ATP4A 0 genome.wustl.edu 37 19 36047856 36047856 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 36047856 36047856 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1828 p.V610I 0.998 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 tier1 - - 80 0 0.00 26 5 16.13 ATP6V0E2 0 genome.wustl.edu 37 7 149572717 149572717 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 149572717 149572717 C T SNP ATP6V0E2 ENST00000421974 human ensembl 74_37 +1 known silent c.282 p.A94 0.033 pfam_ATPase_V0-cplx_e1/e2_su pfam_ATPase_V0-cplx_e1/e2_su - no_errors ATP6V0E2 HGNC ENSG00000171130 tier1 - - 31 0 0.00 41 4 8.89 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,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_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 tier1 35 0 0.00 39 6 13.33 ATP7B 0 genome.wustl.edu 37 13 52532637 52532637 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 52532637 52532637 A C SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.2165 p.L722R 1.000 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 tier1 - - 68 0 0.00 47 9 16.07 ATP8B3 0 genome.wustl.edu 37 19 1795906 1795906 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 1795906 1795906 C - DEL ATP8B3 ENST00000539485 human ensembl 74_37 -1 known frame_shift_del c.2023 p.A675fs 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 tier1 29 0 0.00 27 5 15.62 ATP9A 0 genome.wustl.edu 37 20 50287773 50287773 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 50287773 50287773 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.1061 p.G354D 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 tier1 - - 51 0 0.00 43 8 15.69 ATR 0 genome.wustl.edu 37 3 142274740 142274740 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 142274740 142274740 T - DEL ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_del c.2320 p.I774fs 0.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 59 0 0.00 62 11 15.07 ATRN 0 genome.wustl.edu 37 20 3526487 3526487 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 3526487 3526487 T - DEL ATRN ENST00000262919 human ensembl 74_37 +1 known frame_shift_del c.687 p.F231fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 tier1 72 0 0.00 66 8 10.81 ATRN 0 genome.wustl.edu 37 20 3557636 3557636 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 3557636 3557636 C T SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.2345 p.A782V 1.000 smart_Plexin-like_fold pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 tier1 - - 48 0 0.00 44 10 18.52 ATRNL1 0 genome.wustl.edu 37 10 117486834 117486837 + Frame_Shift_Del DEL AACA AACA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AACA AACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 117486834 117486837 AACA - DEL ATRNL1 ENST00000355044 human ensembl 74_37 +1 known frame_shift_del c.3872_3875 p.T1293fs 1.000:1.000:1.000:1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 48 0 0.00 37 12 24.49 ATRX 0 genome.wustl.edu 37 X 76762663 76762663 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 76762663 76762663 A - DEL ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATRX HGNC ENSG00000085224 tier1 45 0 0.00 20 10 33.33 ATXN2 0 genome.wustl.edu 37 12 111990213 111990213 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 111990213 111990213 C T SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.922 p.A308T 1.000 superfamily_LSM_dom pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 73 0 0.00 76 5 6.17 ATXN7L3 0 genome.wustl.edu 37 17 42275066 42275066 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 42275066 42275066 G A SNP ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known silent c.84 p.V28 0.991 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 tier1 - - 48 0 0.00 32 7 17.95 AURKAIP1 0 genome.wustl.edu 37 1 1309775 1309775 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 1309775 1309775 C A SNP AURKAIP1 ENST00000321751 human ensembl 74_37 -1 known missense c.103 p.G35W 0.000 NULL pfam_DUF1713_mit - no_errors AURKAIP1 HGNC ENSG00000175756 tier1 - - 39 0 0.00 18 12 40.00 AURKB 0 genome.wustl.edu 37 17 8110190 8110190 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 8110190 8110190 G T SNP AURKB ENST00000585124 human ensembl 74_37 -1 known missense c.415 p.R139S 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors AURKB HGNC ENSG00000178999 74 0 0.00 43 3 6.52 AUTS2 0 genome.wustl.edu 37 7 70239044 70239044 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 70239044 70239044 C T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.1861 p.P621S 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 34 0 0.00 26 5 16.13 AVPR1A 0 genome.wustl.edu 37 12 63541258 63541258 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 63541258 63541258 T G SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.1138 p.S380R 1.000 pfam_DUF1856,prints_Vprs_V1A_rcpt pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 tier1 - - 59 0 0.00 45 7 13.46 AXIN1 0 genome.wustl.edu 37 16 348180 348180 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 348180 348180 G - DEL AXIN1 ENST00000262320 human ensembl 74_37 -1 known frame_shift_del c.1326 p.A443fs 0.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 tier1 97 0 0.00 61 17 21.79 AXIN1 0 genome.wustl.edu 37 16 360055 360055 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 360055 360055 G - DEL AXIN1 ENST00000262320 human ensembl 74_37 -1 known frame_shift_del c.1034 p.P345fs 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 tier1 13 0 0.00 15 4 21.05 AXIN2 0 genome.wustl.edu 37 17 63531800 63531800 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 63531800 63531800 C T SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known silent c.2181 p.S727 0.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 - - 30 0 0.00 21 10 32.26 AZI2 0 genome.wustl.edu 37 3 28382061 28382061 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 28382061 28382061 T - DEL AZI2 ENST00000479665 human ensembl 74_37 -1 known frame_shift_del c.48 p.A17fs 0.996 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 tier1 51 0 0.00 27 16 37.21 B3GAT1 0 genome.wustl.edu 37 11 134253746 134253746 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 134253746 134253746 C T SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.488 p.R163H 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 tier1 - - 83 0 0.00 55 23 29.49 B4GALNT2 0 genome.wustl.edu 37 17 47230172 47230172 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 47230172 47230172 C - DEL B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known frame_shift_del c.544 p.R183fs 1.000 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 tier1 50 0 0.00 28 14 33.33 B9D2 0 genome.wustl.edu 37 19 41860681 41860681 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 41860681 41860681 G A SNP B9D2 ENST00000243578 human ensembl 74_37 -1 known missense c.452 p.T151I 0.998 pfam_B9_dom pfam_B9_dom - no_errors B9D2 HGNC ENSG00000123810 tier1 - - 79 0 0.00 64 16 20.00 BAALC 0 genome.wustl.edu 37 8 104225196 104225196 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 104225196 104225196 C A SNP BAALC ENST00000297574 human ensembl 74_37 +1 known silent c.315 p.A105 0.483 NULL pfam_BAALC - no_errors BAALC HGNC ENSG00000164929 tier1 - - 76 0 0.00 47 37 44.05 BAI2 0 genome.wustl.edu 37 1 32207741 32207741 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 32207741 32207741 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.1330 p.R444W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 15 0 0.00 10 6 37.50 BAIAP2L1 0 genome.wustl.edu 37 7 97937012 97937012 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 97937012 97937012 G A SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known silent c.1152 p.D384 0.006 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 tier1 rs147254651 - 33 0 0.00 20 11 35.48 BANF2 0 genome.wustl.edu 37 20 17705764 17705764 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 17705764 17705764 G A SNP BANF2 ENST00000545418 human ensembl 74_37 +1 known missense c.115 p.A39T 0.903 pfam_BAF_prot,superfamily_BAF_prot pfam_BAF_prot,superfamily_BAF_prot - no_errors BANF2 HGNC ENSG00000125888 tier1 - - 37 0 0.00 44 8 15.38 BATF 0 genome.wustl.edu 37 14 76012941 76012941 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 76012941 76012941 C T SNP BATF ENST00000286639 human ensembl 74_37 +1 known missense c.305 p.S102L 0.991 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 tier1 - - 40 0 0.00 39 4 9.30 BATF3 0 genome.wustl.edu 37 1 212870666 212870666 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 212870666 212870666 G T SNP BATF3 ENST00000478275 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BATF3 HGNC ENSG00000123685 tier1 - - 15 0 0.00 22 7 24.14 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 tier1 53 0 0.00 36 6 14.29 BAX 0 genome.wustl.edu 37 19 49459465 49459465 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 49459465 49459465 G A SNP BAX ENST00000293288 human ensembl 74_37 +1 known missense c.244 p.A82T 0.006 pfam_Blc2_fam,pfscan_Bcl2-like pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 tier1 - - 63 0 0.00 35 6 14.63 BCAR3 0 genome.wustl.edu 37 1 94041654 94041654 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 94041654 94041654 C T SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known missense c.1719 p.M573I 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 tier1 - - 37 0 0.00 38 4 9.52 BCHE 0 genome.wustl.edu 37 3 165547794 165547795 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 165547794 165547795 - T INS BCHE ENST00000264381 human ensembl 74_37 -1 known frame_shift_ins c.1028_1027 p.T343fs 0.996:0.991 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 72 0 0.00 62 8 11.43 BCKDK 0 genome.wustl.edu 37 16 31120725 31120725 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 31120725 31120725 G A SNP BCKDK ENST00000219794 human ensembl 74_37 +1 known missense c.181 p.A61T 0.941 NULL pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 tier1 - - 67 0 0.00 57 8 12.31 BCL11A 0 genome.wustl.edu 37 2 60687304 60687306 + RNA DEL AAA AAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 60687304 60687306 AAA - DEL BCL11A ENST00000477659 human ensembl 74_37 -1 known rna NULL NULL 0.436:0.471:0.209 - - - no_errors BCL11A HGNC ENSG00000119866 tier1 26 0 0.00 16 5 23.81 BCL11A 0 genome.wustl.edu 37 2 60687345 60687345 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 60687345 60687345 A - DEL BCL11A ENST00000477659 human ensembl 74_37 -1 known rna NULL NULL 0.980 - - - no_errors BCL11A HGNC ENSG00000119866 tier1 39 0 0.00 24 11 31.43 BCL2 0 genome.wustl.edu 37 18 60985684 60985684 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 60985684 60985684 C T SNP BCL2 ENST00000333681 human ensembl 74_37 -1 known silent c.216 p.L72 0.017 tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_Bcl2,prints_Blc2_fam,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX - no_errors BCL2 HGNC ENSG00000171791 tier1 - - 25 0 0.00 9 7 43.75 BCL6 0 genome.wustl.edu 37 3 187440319 187440319 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 187440319 187440319 G T SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.2048 p.A683D 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 55 0 0.00 44 3 6.25 BCL7A 0 genome.wustl.edu 37 12 122492854 122492854 + Silent SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 122492854 122492854 A C SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known silent c.583 p.R195 0.075 NULL pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 tier1 - - 40 0 0.00 46 7 13.21 BCL7C 0 genome.wustl.edu 37 16 30846161 30846161 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 30846161 30846161 C T SNP BCL7C ENST00000576194 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors BCL7C HGNC ENSG00000099385 tier1 - - 52 0 0.00 40 21 34.43 BCL9 0 genome.wustl.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 147091501 147091501 C - DEL BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_del c.1540 p.P516fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 45 0 0.00 34 4 10.53 BCL9L 0 genome.wustl.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 118770651 118770652 - G INS BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_ins c.3381_3380 p.P1128fs 0.988:0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 64 0 0.00 49 8 14.04 BDNF 0 genome.wustl.edu 37 11 27679158 27679158 + RNA SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 27679158 27679158 T G SNP BDNF ENST00000584049 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BDNF HGNC ENSG00000176697 tier1 - - 38 0 0.00 21 7 25.00 BECN1 0 genome.wustl.edu 37 17 40970681 40970681 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 40970681 40970681 A - DEL BECN1 ENST00000361523 human ensembl 74_37 -1 known frame_shift_del c.369 p.F123fs 1.000 pfam_Beclin_fam pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC ENSG00000126581 tier1 46 0 0.00 27 3 10.00 BICD1 0 genome.wustl.edu 37 12 32480649 32480649 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 32480649 32480649 C T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known silent c.1260 p.Y420 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 tier1 - - 30 0 0.00 26 14 34.15 BID 0 genome.wustl.edu 37 22 18222896 18222896 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 18222896 18222896 C T SNP BID ENST00000342111 human ensembl 74_37 -1 known silent c.270 p.A90 0.000 NULL pfam_BID - no_errors BID HGNC ENSG00000015475 tier1 - - 75 0 0.00 27 16 37.21 BLK 0 genome.wustl.edu 37 8 11400805 11400805 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 11400805 11400805 C - DEL BLK ENST00000259089 human ensembl 74_37 +1 known frame_shift_del c.72 p.L26fs 0.906 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 tier1 41 0 0.00 34 3 8.11 BLNK 0 genome.wustl.edu 37 10 97975102 97975102 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 97975102 97975102 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known silent c.651 p.P217 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 135 0 0.00 92 15 14.02 BMS1P18 0 genome.wustl.edu 37 14 19889605 19889605 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 19889605 19889605 G A SNP BMS1P18 ENST00000551908 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors BMS1P18 HGNC ENSG00000215394 tier1 - - 42 0 0.00 33 6 15.38 BNC2 0 genome.wustl.edu 37 9 16436056 16436056 + Silent SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 16436056 16436056 A T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known silent c.2136 p.T712 0.358 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 89 0 0.00 49 18 26.87 BNIP3 0 genome.wustl.edu 37 10 133787443 133787443 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 133787443 133787443 G T SNP BNIP3 ENST00000368636 human ensembl 74_37 -1 known silent c.51 p.S17 1.000 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC ENSG00000176171 tier1 - - 74 0 0.00 33 24 42.11 BOC 0 genome.wustl.edu 37 3 112997656 112997656 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 112997656 112997656 C T SNP BOC ENST00000497495 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BOC HGNC ENSG00000144857 tier1 - - 75 0 0.00 69 12 14.81 BOD1L1 0 genome.wustl.edu 37 4 13601800 13601800 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 13601800 13601800 G A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known nonsense c.6724 p.R2242* 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 58 0 0.00 45 9 16.67 BOLA1 0 genome.wustl.edu 37 1 149871915 149871915 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 149871915 149871915 C T SNP BOLA1 ENST00000369150 human ensembl 74_37 +1 known silent c.303 p.V101 0.722 pfam_BolA,superfamily_BolA pfam_BolA,superfamily_BolA - no_errors BOLA1 HGNC ENSG00000178096 tier1 rs149389122 - 53 0 0.00 39 12 23.53 BPIFB4 0 genome.wustl.edu 37 20 31671214 31671214 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 31671214 31671214 C - DEL BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_del c.211 p.P73fs 0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 tier1 48 0 0.00 22 7 24.14 BRD8 0 genome.wustl.edu 37 5 137495862 137495862 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 137495862 137495862 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known nonsense c.2428 p.Q810* 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 tier1 - - 46 0 0.00 41 5 10.87 BRINP3 0 genome.wustl.edu 37 1 190067209 190067209 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 190067209 190067209 T C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.2240 p.Q747R 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 14 0 0.00 9 2 18.18 BRWD1 0 genome.wustl.edu 37 21 40619643 40619643 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 40619643 40619643 G A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.2465 p.S822L 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 tier1 - - 55 0 0.00 57 19 25.00 BSG 0 genome.wustl.edu 37 19 581348 581348 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 581348 581348 G A SNP BSG ENST00000333511 human ensembl 74_37 +1 known missense c.826 p.V276M 0.042 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BSG HGNC ENSG00000172270 tier1 - - 77 0 0.00 68 4 5.56 BTAF1 0 genome.wustl.edu 37 10 93756247 93756247 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 93756247 93756247 T - DEL BTAF1 ENST00000265990 human ensembl 74_37 +1 known frame_shift_del c.3431 p.L1146fs 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 tier1 54 0 0.00 29 11 27.50 BTBD1 0 genome.wustl.edu 37 15 83699022 83699022 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 83699022 83699022 A G SNP BTBD1 ENST00000261721 human ensembl 74_37 -1 known silent c.921 p.F307 0.994 NULL pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 tier1 - - 46 0 0.00 33 5 13.16 C10orf112 0 genome.wustl.edu 37 10 19612935 19612935 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 19612935 19612935 C T SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known silent c.1365 p.D455 0.812 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 70 0 0.00 51 6 10.53 C10orf90 0 genome.wustl.edu 37 10 128193531 128193531 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 128193531 128193531 G A SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.529 p.R177C 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 tier1 - - 31 0 0.00 33 7 17.50 C11orf89 0 genome.wustl.edu 37 11 1911130 1911130 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 1911130 1911130 G A SNP C11orf89 ENST00000391480 human ensembl 74_37 -1 known missense c.685 p.R229C 0.966 NULL NULL - no_errors C11orf89 HGNC ENSG00000184682 tier1 - - 86 0 0.00 60 22 26.83 C14orf182 0 genome.wustl.edu 37 14 50470550 50470550 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 50470550 50470550 T - DEL C14orf182 ENST00000529902 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C14orf182 HGNC ENSG00000214900 tier1 41 0 0.00 27 11 28.95 C15orf41 0 genome.wustl.edu 37 15 36984338 36984338 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 36984338 36984338 C T SNP C15orf41 ENST00000437989 human ensembl 74_37 +1 known silent c.438 p.N146 0.520 NULL NULL - no_errors C15orf41 HGNC ENSG00000186073 tier1 - - 49 0 0.00 54 9 14.29 C17orf62 0 genome.wustl.edu 37 17 80401904 80401904 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 80401904 80401904 G A SNP C17orf62 ENST00000336995 human ensembl 74_37 -1 known missense c.95 p.P32L 0.003 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 tier1 - - 88 0 0.00 91 16 14.95 C17orf74 0 genome.wustl.edu 37 17 7329696 7329696 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7329696 7329696 G A SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.386 p.R129H 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 tier1 - - 58 0 0.00 33 11 23.91 C18orf25 0 genome.wustl.edu 37 18 43843065 43843065 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 43843065 43843065 G A SNP C18orf25 ENST00000282059 human ensembl 74_37 +1 known missense c.1196 p.R399H 1.000 NULL NULL - no_errors C18orf25 HGNC ENSG00000152242 49 0 0.00 37 2 5.13 C19orf70 0 genome.wustl.edu 37 19 5679654 5679654 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 5679654 5679654 G - DEL C19orf70 ENST00000309324 human ensembl 74_37 -1 known frame_shift_del c.150 p.A51fs 0.000 NULL NULL - no_errors C19orf70 HGNC ENSG00000174917 tier1 42 0 0.00 38 11 22.45 C1QC 0 genome.wustl.edu 37 1 22973962 22973962 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 22973962 22973962 G A SNP C1QC ENST00000374637 human ensembl 74_37 +1 known missense c.424 p.A142T 0.002 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 tier1 rs147904988 - 48 0 0.00 47 11 18.97 C1QTNF9 0 genome.wustl.edu 37 13 24895248 24895248 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 24895248 24895248 G A SNP C1QTNF9 ENST00000332018 human ensembl 74_37 +1 known missense c.344 p.R115Q 0.001 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC ENSG00000240654 tier1 - - 53 0 0.00 41 8 16.33 C1orf101 0 genome.wustl.edu 37 1 244735907 244735908 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 244735907 244735908 - T INS C1orf101 ENST00000366531 human ensembl 74_37 +1 known frame_shift_ins c.1330_1331 p.Y446fs 0.000:0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 tier1 82 0 0.00 61 26 29.89 C1orf101 0 genome.wustl.edu 37 1 244769091 244769091 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 244769091 244769091 G T SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known missense c.1945 p.A649S 0.006 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 tier1 - - 76 0 0.00 74 4 5.13 C1orf127 0 genome.wustl.edu 37 1 11008750 11008750 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 11008750 11008750 G A SNP C1orf127 ENST00000377004 human ensembl 74_37 -1 known missense c.1442 p.T481M 0.000 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 tier1 - - 98 0 0.00 69 36 34.29 C1orf61 0 genome.wustl.edu 37 1 156374433 156374433 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156374433 156374433 T - DEL C1orf61 ENST00000488498 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors C1orf61 HGNC ENSG00000125462 tier1 33 0 0.00 14 5 26.32 C20orf203 0 genome.wustl.edu 37 20 31238590 31238590 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 31238590 31238590 G - DEL C20orf203 ENST00000360785 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors C20orf203 HGNC ENSG00000198547 tier1 70 0 0.00 43 10 18.87 C22orf15 0 genome.wustl.edu 37 22 24106534 24106534 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 24106534 24106534 G A SNP C22orf15 ENST00000402217 human ensembl 74_37 +1 known missense c.200 p.G67D 0.003 NULL superfamily_Ferritin-like_SF - no_errors C22orf15 HGNC ENSG00000169314 22 0 0.00 12 4 25.00 C22orf24 0 genome.wustl.edu 37 22 32334105 32334105 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 32334105 32334105 A - DEL C22orf24 ENST00000543051 human ensembl 74_37 -1 known frame_shift_del c.149 p.F50fs 0.000 NULL NULL - no_errors C22orf24 HGNC ENSG00000128254 tier1 45 0 0.00 44 9 16.98 C2orf16 0 genome.wustl.edu 37 2 27804744 27804744 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 27804744 27804744 C T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.5305 p.P1769S 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 tier1 - - 110 0 0.00 83 22 20.95 C3 0 genome.wustl.edu 37 19 6718124 6718124 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 6718124 6718124 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.485 p.T162M 0.222 pfam_A2M_N pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 39 0 0.00 32 3 8.57 C3orf55 0 genome.wustl.edu 37 3 157261261 157261261 + RNA SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 157261261 157261261 T G SNP C3orf55 ENST00000498159 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors C3orf55 HGNC ENSG00000174899 tier1 - - 44 0 0.00 30 4 11.76 C3orf56 0 genome.wustl.edu 37 3 126915945 126915945 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 126915945 126915945 C A SNP C3orf56 ENST00000398112 human ensembl 74_37 +1 known silent c.417 p.S139 0.000 NULL NULL - no_errors C3orf56 HGNC ENSG00000214324 115 0 0.00 74 4 5.13 C3orf70 0 genome.wustl.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 184870595 184870595 G A SNP C3orf70 ENST00000335012 human ensembl 74_37 -1 known missense c.17 p.S6L 0.804 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 tier1 - - 27 0 0.00 23 8 25.81 C4orf19 0 genome.wustl.edu 37 4 37592205 37592205 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 37592205 37592205 A G SNP C4orf19 ENST00000284437 human ensembl 74_37 +1 known silent c.528 p.V176 0.000 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 tier1 - - 23 0 0.00 23 5 17.86 C4orf21 0 genome.wustl.edu 37 4 113540483 113540483 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 113540483 113540483 C T SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.715 p.A239T 0.000 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 - - 44 0 0.00 30 15 33.33 C4orf22 0 genome.wustl.edu 37 4 81791254 81791254 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 81791254 81791254 A - DEL C4orf22 ENST00000508675 human ensembl 74_37 +1 known frame_shift_del c.492 p.R167fs 0.769 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 tier1 38 0 0.00 30 6 16.67 C5orf20 0 genome.wustl.edu 37 5 134782253 134782253 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 134782253 134782253 A T SNP C5orf20 ENST00000503143 human ensembl 74_37 -1 known missense c.546 p.D182E 0.000 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 tier1 - - 48 0 0.00 48 5 9.43 C5orf30 0 genome.wustl.edu 37 5 102611913 102611913 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 102611913 102611913 C T SNP C5orf30 ENST00000319933 human ensembl 74_37 +1 known missense c.293 p.A98V 0.007 NULL NULL - no_errors C5orf30 HGNC ENSG00000181751 tier1 - - 21 0 0.00 20 6 23.08 C5orf42 0 genome.wustl.edu 37 5 37224365 37224365 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 37224365 37224365 G T SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known silent c.2571 p.I857 0.132 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 61 0 0.00 49 11 18.33 C5orf45 0 genome.wustl.edu 37 5 179264366 179264366 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 179264366 179264366 C T SNP C5orf45 ENST00000523267 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors C5orf45 HGNC ENSG00000161010 tier1 - - 44 0 0.00 38 16 29.63 C5orf48 0 genome.wustl.edu 37 5 125971900 125971900 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 125971900 125971900 G T SNP C5orf48 ENST00000357147 human ensembl 74_37 +1 known silent c.372 p.V124 0.996 NULL NULL - no_errors C5orf48 HGNC ENSG00000196900 28 0 0.00 43 3 6.52 C6orf132 0 genome.wustl.edu 37 6 42074305 42074306 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 42074305 42074306 - G INS C6orf132 ENST00000341865 human ensembl 74_37 -1 putative frame_shift_ins c.1345_1344 p.S448fs 0.842:0.850 NULL NULL - no_errors C6orf132 HGNC ENSG00000188112 tier1 49 0 0.00 28 5 15.15 C7orf63 0 genome.wustl.edu 37 7 89884764 89884764 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 89884764 89884764 C A SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known missense c.148 p.R50S 0.209 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 tier1 - - 47 0 0.00 59 4 6.35 C9orf135 0 genome.wustl.edu 37 9 72435881 72435881 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 72435881 72435881 G A SNP C9orf135 ENST00000377197 human ensembl 74_37 +1 known missense c.86 p.R29H 1.000 NULL NULL - no_errors C9orf135 HGNC ENSG00000204711 tier1 - - 29 0 0.00 33 11 25.00 C9orf142 0 genome.wustl.edu 37 9 139887244 139887244 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 139887244 139887244 G A SNP C9orf142 ENST00000468484 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C9orf142 HGNC ENSG00000148362 tier1 - - 62 0 0.00 44 14 24.14 C9orf173 0 genome.wustl.edu 37 9 140147122 140147122 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 140147122 140147122 G A SNP C9orf173 ENST00000388931 human ensembl 74_37 +1 known silent c.501 p.S167 0.071 NULL NULL - no_errors C9orf173 HGNC ENSG00000197768 13 0 0.00 8 5 38.46 C9orf91 0 genome.wustl.edu 37 9 117389249 117389249 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 117389249 117389249 T G SNP C9orf91 ENST00000374049 human ensembl 74_37 +1 known missense c.290 p.I97S 1.000 NULL NULL - no_errors C9orf91 HGNC ENSG00000157693 tier1 - - 46 0 0.00 50 6 10.71 CA1 0 genome.wustl.edu 37 8 86250552 86250552 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 86250552 86250552 G A SNP CA1 ENST00000256119 human ensembl 74_37 -1 known missense c.164 p.A55V 0.061 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA1 HGNC ENSG00000133742 82 0 0.00 88 5 5.38 CA14 0 genome.wustl.edu 37 1 150236993 150236995 + In_Frame_Del DEL GAA GAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 150236993 150236995 GAA - DEL CA14 ENST00000369111 human ensembl 74_37 +1 known in_frame_del c.948_950 p.K318in_frame_del 1.000:1.000:1.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 tier1 54 0 0.00 31 8 20.51 CAB39L 0 genome.wustl.edu 37 13 49957037 49957037 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 49957037 49957037 T - DEL CAB39L ENST00000347776 human ensembl 74_37 -1 known frame_shift_del c.10 p.M4fs 1.000 NULL pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 tier1 123 0 0.00 87 29 25.00 CABIN1 0 genome.wustl.edu 37 22 24447362 24447362 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 24447362 24447362 A - DEL CABIN1 ENST00000263119 human ensembl 74_37 +1 known frame_shift_del c.732 p.K246fs 0.949 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 76 0 0.00 60 12 16.67 CACNA1E 0 genome.wustl.edu 37 1 181765945 181765945 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 181765945 181765945 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6350 p.R2117H 0.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 34 0 0.00 20 5 20.00 CACNA1H 0 genome.wustl.edu 37 16 1254304 1254304 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 1254304 1254304 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.2297 p.R766K 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 tier1 - - 47 0 0.00 43 6 12.24 CACNA1H 0 genome.wustl.edu 37 16 1259364 1259364 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 1259364 1259364 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known silent c.3696 p.I1232 0.977 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 tier1 - - 59 0 0.00 41 12 22.64 CACNA1I 0 genome.wustl.edu 37 22 40060801 40060801 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 40060801 40060801 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.3742 p.V1248M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 tier1 - - 45 0 0.00 43 13 23.21 CACNA2D1 0 genome.wustl.edu 37 7 81637040 81637040 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 81637040 81637040 C T SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known silent c.1395 p.P465 1.000 pfam_Cache_domain pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 83 0 0.00 68 28 28.87 CACNA2D3 0 genome.wustl.edu 37 3 54798246 54798247 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 54798246 54798247 - T INS CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known frame_shift_ins c.1248_1249 p.T418fs 0.225:0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 65 0 0.00 64 13 16.88 CACNG6 0 genome.wustl.edu 37 19 54502908 54502908 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 54502908 54502908 G A SNP CACNG6 ENST00000252729 human ensembl 74_37 +1 known missense c.427 p.V143M 0.454 prints_Claudin prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC ENSG00000130433 tier1 - - 47 0 0.00 21 10 32.26 CACNG6 0 genome.wustl.edu 37 19 54496175 54496175 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 54496175 54496175 G A SNP CACNG6 ENST00000252729 human ensembl 74_37 +1 known missense c.44 p.R15Q 0.972 prints_VDCC_g6su prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC ENSG00000130433 9 0 0.00 9 5 35.71 CAD 0 genome.wustl.edu 37 2 27455420 27455420 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 27455420 27455420 T C SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.2750 p.L917P 1.000 pfam_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_lsu_oligo,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 tier1 - - 58 0 0.00 38 6 13.64 CALCOCO1 0 genome.wustl.edu 37 12 54107679 54107679 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 54107679 54107679 G A SNP CALCOCO1 ENST00000550804 human ensembl 74_37 -1 known missense c.1597 p.P533S 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 tier1 - - 52 0 0.00 15 14 48.28 CALHM1 0 genome.wustl.edu 37 10 105218338 105218338 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 105218338 105218338 C T SNP CALHM1 ENST00000329905 human ensembl 74_37 -1 known silent c.171 p.L57 0.999 NULL NULL - no_errors CALHM1 HGNC ENSG00000185933 tier1 - - 95 0 0.00 74 10 11.90 CALHM2 0 genome.wustl.edu 37 10 105209411 105209411 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 105209411 105209411 G A SNP CALHM2 ENST00000260743 human ensembl 74_37 -1 known silent c.288 p.A96 0.340 NULL NULL - no_errors CALHM2 HGNC ENSG00000138172 tier1 - - 45 0 0.00 41 5 10.87 CAMK2A 0 genome.wustl.edu 37 5 149624735 149624735 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 149624735 149624735 C T SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known missense c.973 p.D325N 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_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_dom - no_errors CAMK2A HGNC ENSG00000070808 tier1 - - 45 0 0.00 41 17 29.31 CAMKK2 0 genome.wustl.edu 37 12 121683003 121683003 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 121683003 121683003 T C SNP CAMKK2 ENST00000324774 human ensembl 74_37 -1 known missense c.1493 p.N498S 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_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_dom - no_errors CAMKK2 HGNC ENSG00000110931 tier1 - - 26 0 0.00 25 6 19.35 CAMKV 0 genome.wustl.edu 37 3 49898889 49898889 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 49898889 49898889 C T SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.424 p.V142M 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors CAMKV HGNC ENSG00000164076 tier1 - - 23 0 0.00 34 5 12.82 CAMSAP1 0 genome.wustl.edu 37 9 138710463 138710463 + Splice_Site SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 138710463 138710463 C A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known splice_site c.3993-1 e14-1 1.000 - - - no_errors CAMSAP1 HGNC ENSG00000130559 tier1 - - 41 0 0.00 23 6 20.69 CAMSAP2 0 genome.wustl.edu 37 1 200709046 200709046 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 200709046 200709046 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.91 p.I32fs 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 tier1 59 0 0.00 40 8 16.67 CAMSAP2 0 genome.wustl.edu 37 1 200816338 200816339 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 200816338 200816339 0 G INS CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_ins c.1143_1144 p.E382fs 0.550:0.591 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 62 0 0.00 74 10 11.90 CAMTA1 0 genome.wustl.edu 37 1 7723713 7723714 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 7723713 7723714 - C INS CAMTA1 ENST00000303635 human ensembl 74_37 +1 known frame_shift_ins c.1106_1107 p.D371fs 1.000:1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 57 0 0.00 39 5 11.36 CAPNS1 0 genome.wustl.edu 37 19 36633868 36633868 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 36633868 36633868 C T SNP CAPNS1 ENST00000588780 human ensembl 74_37 +1 known missense c.391 p.H131Y 1.000 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 tier1 - - 46 0 0.00 15 7 31.82 CARD14 0 genome.wustl.edu 37 17 78163639 78163639 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 78163639 78163639 C T SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known missense c.931 p.R311W 0.963 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 tier1 - - 91 0 0.00 66 17 20.24 CARD14 0 genome.wustl.edu 37 17 78176100 78176100 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 78176100 78176100 C T SNP CARD14 ENST00000392434 human ensembl 74_37 +1 known missense c.1262 p.T421M 0.089 NULL superfamily_PDZ - no_errors CARD14 HGNC ENSG00000141527 tier1 - - 41 0 0.00 44 8 15.38 CARNS1 0 genome.wustl.edu 37 11 67190856 67190856 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 67190856 67190856 T C SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.1637 p.V546A 1.000 superfamily_PreATP-grasp_dom superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 tier1 - - 37 0 0.00 42 6 12.50 CARS 0 genome.wustl.edu 37 11 3028167 3028167 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 3028167 3028167 G A SNP CARS ENST00000380525 human ensembl 74_37 -1 known silent c.2091 p.S697 0.598 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase 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-ligase - no_errors CARS HGNC ENSG00000110619 25 0 0.00 9 2 18.18 CASC1 0 genome.wustl.edu 37 12 25308344 25308344 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 25308344 25308344 A T SNP CASC1 ENST00000395987 human ensembl 74_37 -1 known missense c.201 p.D67E 0.993 NULL pfam_Casc1_domain,prints_Casc1 - no_errors CASC1 HGNC ENSG00000118307 tier1 - - 28 0 0.00 25 5 16.67 CASC5 0 genome.wustl.edu 37 15 40913213 40913213 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 40913213 40913213 G A SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.829 p.A277T 0.003 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 57 0 0.00 52 4 7.14 CATSPER1 0 genome.wustl.edu 37 11 65792817 65792817 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 65792817 65792817 C T SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.1034 p.R345H 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 tier1 - - 46 0 0.00 45 21 31.82 CATSPER2 0 genome.wustl.edu 37 15 43931160 43931160 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 43931160 43931160 C T SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known missense c.784 p.V262I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 tier1 - - 59 0 0.00 53 9 14.52 CATSPER2P1 0 genome.wustl.edu 37 15 44028271 44028271 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 44028271 44028271 G A SNP CATSPER2P1 ENST00000381680 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 tier1 - - 37 0 0.00 21 7 25.00 CATSPER3 0 genome.wustl.edu 37 5 134347238 134347238 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 134347238 134347238 G A SNP CATSPER3 ENST00000282611 human ensembl 74_37 +1 known silent c.1122 p.V374 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 tier1 - - 61 0 0.00 36 6 14.29 CBFA2T3 0 genome.wustl.edu 37 16 88958316 88958316 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 88958316 88958316 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.685 p.R229W 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 tier1 - - 44 0 0.00 26 11 29.73 CBLB 0 genome.wustl.edu 37 3 105377882 105377882 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 105377882 105377882 C T SNP CBLB ENST00000264122 human ensembl 74_37 -1 known missense c.2881 p.E961K 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 tier1 - - 75 0 0.00 38 21 35.59 CBLN1 0 genome.wustl.edu 37 16 49315200 49315200 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 49315200 49315200 G A SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known silent c.177 p.S59 1.000 smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 tier1 - - 54 0 0.00 62 10 13.89 CBX6 0 genome.wustl.edu 37 22 39262968 39262968 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 39262968 39262968 C T SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.485 p.R162H 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 tier1 - - 69 0 0.00 30 9 23.08 CC2D1B 0 genome.wustl.edu 37 1 52826167 52826167 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 52826167 52826167 G A SNP CC2D1B ENST00000371586 human ensembl 74_37 -1 known nonsense c.532 p.R178* 0.234 smart_DM14 pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1B HGNC ENSG00000154222 83 0 0.00 69 5 6.76 CCAR2 0 genome.wustl.edu 37 8 22470553 22470553 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 22470553 22470553 G A SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.608 p.R203H 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 tier1 - - 79 0 0.00 70 9 11.39 CCDC106 0 genome.wustl.edu 37 19 56163825 56163825 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 56163825 56163825 T C SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known missense c.556 p.Y186H 1.000 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 tier1 - - 81 0 0.00 65 8 10.96 CCDC108 0 genome.wustl.edu 37 2 219868931 219868933 + In_Frame_Del DEL CTC CTC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 219868931 219868933 CTC - DEL CCDC108 ENST00000341552 human ensembl 74_37 -1 known in_frame_del c.5298_5296 p.E1766in_frame_del 0.056:0.050:0.034 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 31 0 0.00 23 5 17.86 CCDC112 0 genome.wustl.edu 37 5 114607065 114607065 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 114607065 114607065 G A SNP CCDC112 ENST00000379611 human ensembl 74_37 -1 known missense c.1177 p.R393C 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 tier1 - - 41 0 0.00 32 14 30.43 CCDC129 0 genome.wustl.edu 37 7 31682910 31682910 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 31682910 31682910 T C SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known silent c.2004 p.C668 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 tier1 - - 25 0 0.00 18 9 33.33 CCDC129 0 genome.wustl.edu 37 7 31618022 31618022 + Nonsense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 31618022 31618022 G T SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known nonsense c.1222 p.G408* 0.007 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 11 0 0.00 9 2 18.18 CCDC166 0 genome.wustl.edu 37 8 144789882 144789882 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 144789882 144789882 C T SNP CCDC166 ENST00000542437 human ensembl 74_37 -1 known missense c.398 p.R133H 1.000 NULL NULL - no_errors CCDC166 HGNC ENSG00000255181 tier1 - - 10 0 0.00 8 4 33.33 CCDC28A 0 genome.wustl.edu 37 6 139094843 139094843 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 139094843 139094843 G T SNP CCDC28A ENST00000332797 human ensembl 74_37 +1 known missense c.32 p.G11V 0.000 NULL NULL - no_errors CCDC28A HGNC ENSG00000024862 tier1 - - 158 0 0.00 136 20 12.74 CCDC39 0 genome.wustl.edu 37 3 180334382 180334382 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 180334382 180334382 T G SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.2508 p.K836N 0.988 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 43 0 0.00 50 5 9.09 CCDC42 0 genome.wustl.edu 37 17 8638451 8638451 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 8638451 8638451 T C SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.836 p.E279G 0.000 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 43 0 0.00 39 3 7.14 CCDC73 0 genome.wustl.edu 37 11 32675522 32675522 + Splice_Site SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 32675522 32675522 A G SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known splice_site c.834+2 e10+2 1.000 - - - no_errors CCDC73 HGNC ENSG00000186714 tier1 - - 73 0 0.00 67 16 19.28 CCDC87 0 genome.wustl.edu 37 11 66359522 66359522 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 66359522 66359522 G A SNP CCDC87 ENST00000333861 human ensembl 74_37 -1 known missense c.965 p.A322V 0.998 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 tier1 - - 32 0 0.00 17 9 34.62 CCDC91 0 genome.wustl.edu 37 12 28412316 28412316 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 28412316 28412316 G A SNP CCDC91 ENST00000381259 human ensembl 74_37 +1 known missense c.50 p.G17D 0.916 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 tier1 - - 90 0 0.00 79 7 8.14 CCDC92 0 genome.wustl.edu 37 12 124422150 124422150 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 124422150 124422150 G A SNP CCDC92 ENST00000238156 human ensembl 74_37 -1 known missense c.451 p.R151W 1.000 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 39 0 0.00 35 2 5.41 CCKAR 0 genome.wustl.edu 37 4 26490891 26490891 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 26490891 26490891 C T SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known missense c.328 p.G110R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_Gastrin_rcpt pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 tier1 - - 30 0 0.00 21 6 22.22 CCKBR 0 genome.wustl.edu 37 11 6292451 6292451 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 6292451 6292451 T - DEL CCKBR ENST00000525462 human ensembl 74_37 +1 known frame_shift_del c.1229 p.L413fs 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 15 0 0.00 5 8 61.54 CCNB3 0 genome.wustl.edu 37 X 50052616 50052616 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 50052616 50052616 C - DEL CCNB3 ENST00000276014 human ensembl 74_37 +1 known frame_shift_del c.1447 p.T485fs 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 tier1 49 0 0.00 32 2 5.88 CCNC 0 genome.wustl.edu 37 6 100006296 100006296 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 100006296 100006296 A - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative frame_shift_del c.423 p.F141fs 0.007 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 tier1 37 0 0.00 38 8 17.39 CCND1 0 genome.wustl.edu 37 11 69466017 69466017 + Nonsense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 69466017 69466017 C A SNP CCND1 ENST00000227507 human ensembl 74_37 +1 known nonsense c.855 p.C285* 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND1 HGNC ENSG00000110092 38 0 0.00 31 3 8.82 CCNF 0 genome.wustl.edu 37 16 2487250 2487250 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 2487250 2487250 C T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.467 p.P156L 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 tier1 - - 36 0 0.00 27 6 18.18 CCNL2 0 genome.wustl.edu 37 1 1326208 1326208 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 1326208 1326208 C T SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known missense c.697 p.V233M 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 tier1 - - 56 0 0.00 51 6 10.34 CCR4 0 genome.wustl.edu 37 3 32995849 32995849 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 32995849 32995849 G A SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known missense c.935 p.R312H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 tier1 - - 35 0 0.00 28 8 22.22 CCR7 0 genome.wustl.edu 37 17 38711212 38711212 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 38711212 38711212 C T SNP CCR7 ENST00000246657 human ensembl 74_37 -1 known missense c.919 p.A307T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1 - no_errors CCR7 HGNC ENSG00000126353 tier1 - - 41 0 0.00 29 4 12.12 CCSER2 0 genome.wustl.edu 37 10 86185510 86185510 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 86185510 86185510 T - DEL CCSER2 ENST00000372088 human ensembl 74_37 +1 known frame_shift_del c.1729 p.F577fs 1.000 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 tier1 50 0 0.00 27 9 25.00 CCT5 0 genome.wustl.edu 37 5 10256197 10256197 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 10256197 10256197 C T SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known silent c.462 p.S154 0.005 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 19 0 0.00 23 3 11.54 CD1D 0 genome.wustl.edu 37 1 158152021 158152021 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 158152021 158152021 G A SNP CD1D ENST00000368171 human ensembl 74_37 +1 known silent c.528 p.V176 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 tier1 - - 48 0 0.00 36 10 21.74 CD22 0 genome.wustl.edu 37 19 35823799 35823799 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 35823799 35823799 G A SNP CD22 ENST00000085219 human ensembl 74_37 +1 known nonsense c.384 p.W128* 1.000 smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 tier1 - - 34 0 0.00 27 9 25.00 CD22 0 genome.wustl.edu 37 19 35832639 35832639 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 35832639 35832639 G - DEL CD22 ENST00000085219 human ensembl 74_37 +1 known frame_shift_del c.1806 p.D604fs 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 tier1 42 0 0.00 17 26 60.47 CD247 0 genome.wustl.edu 37 1 167404320 167404321 + RNA INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 167404320 167404321 - T INS CD247 ENST00000483825 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CD247 HGNC ENSG00000198821 tier1 17 0 0.00 7 2 22.22 CD247 0 genome.wustl.edu 37 1 167408611 167408611 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 167408611 167408611 C T SNP CD247 ENST00000362089 human ensembl 74_37 -1 known silent c.189 p.A63 0.000 pfscan_Phos_immunorcpt_sig_ITAM pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC ENSG00000198821 tier1 - - 71 0 0.00 59 17 22.37 CD34 0 genome.wustl.edu 37 1 208062085 208062085 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 208062085 208062085 C T SNP CD34 ENST00000310833 human ensembl 74_37 -1 known missense c.914 p.G305D 0.923 pfam_CD34/Podocalyxin pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 tier1 - - 51 0 0.00 41 6 12.77 CD36 0 genome.wustl.edu 37 7 80303352 80303352 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 80303352 80303352 A - DEL CD36 ENST00000309881 human ensembl 74_37 +1 known frame_shift_del c.1308 p.I438fs 0.986 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 tier1 103 0 0.00 73 12 14.12 CD93 0 genome.wustl.edu 37 20 23064944 23064944 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 23064944 23064944 G A SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.1886 p.S629F 1.000 NULL pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 tier1 - - 41 0 0.00 34 16 32.00 CDC42BPG 0 genome.wustl.edu 37 11 64599932 64599932 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 64599932 64599932 C A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.3055 p.A1019S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 tier1 - - 58 0 0.00 58 6 9.38 CDC42BPG 0 genome.wustl.edu 37 11 64606221 64606221 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 64606221 64606221 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.1030 p.R344W 0.994 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 tier1 - - 36 0 0.00 15 7 31.82 CDCA7L 0 genome.wustl.edu 37 7 21947897 21947897 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 21947897 21947897 T - DEL CDCA7L ENST00000406877 human ensembl 74_37 -1 known frame_shift_del c.532 p.T178fs 0.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 tier1 44 0 0.00 43 8 15.69 CDH11 0 genome.wustl.edu 37 16 65038589 65038589 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 65038589 65038589 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.184 p.V62M 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 53 0 0.00 56 7 11.11 CDH18 0 genome.wustl.edu 37 5 19473140 19473141 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 19473140 19473141 TT - DEL CDH18 ENST00000510297 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CDH18 HGNC ENSG00000145526 tier1 9 0 0.00 9 2 18.18 CDH18 0 genome.wustl.edu 37 5 19483637 19483638 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 19483637 19483638 - T INS CDH18 ENST00000274170 human ensembl 74_37 -1 known frame_shift_ins c.1655_1654 p.R552fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 35 0 0.00 24 7 22.58 CDH23 0 genome.wustl.edu 37 10 73562688 73562688 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 73562688 73562688 C A SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known silent c.796 p.R266 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 40 0 0.00 23 4 14.81 CDK10 0 genome.wustl.edu 37 16 89758878 89758878 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 89758878 89758878 G A SNP CDK10 ENST00000353379 human ensembl 74_37 +1 known missense c.439 p.V147M 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors CDK10 HGNC ENSG00000185324 tier1 - - 63 0 0.00 39 8 17.02 CDK18 0 genome.wustl.edu 37 1 205499346 205499346 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 205499346 205499346 C - DEL CDK18 ENST00000509056 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC ENSG00000117266 tier1 67 0 0.00 67 11 14.10 CDKN2A 0 genome.wustl.edu 37 9 21971023 21971023 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 21971023 21971023 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.335 p.R112H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 54 0 0.00 42 7 14.29 CDO1 0 genome.wustl.edu 37 5 115152083 115152083 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 115152083 115152083 G A SNP CDO1 ENST00000250535 human ensembl 74_37 -1 known silent c.12 p.T4 0.980 pfam_Cys_dOase_I pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors CDO1 HGNC ENSG00000129596 tier1 - - 19 0 0.00 22 4 15.38 CDRT15L2 0 genome.wustl.edu 37 17 20483254 20483254 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 20483254 20483254 G A SNP CDRT15L2 ENST00000399044 human ensembl 74_37 +1 known silent c.198 p.S66 0.001 NULL NULL - no_errors CDRT15L2 HGNC ENSG00000214819 tier1 - - 82 0 0.00 59 16 21.33 CDSN 0 genome.wustl.edu 37 6 31084700 31084700 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 31084700 31084700 G T SNP CDSN ENST00000376288 human ensembl 74_37 -1 known missense c.692 p.P231H 0.891 NULL NULL - no_errors CDSN HGNC ENSG00000204539 tier1 - - 55 0 0.00 49 7 12.50 CDT1 0 genome.wustl.edu 37 16 88872230 88872230 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 88872230 88872230 C T SNP CDT1 ENST00000301019 human ensembl 74_37 +1 known missense c.785 p.T262I 0.000 pfam_CDT1_Gemini-bd-like pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC ENSG00000167513 tier1 - - 46 0 0.00 41 7 14.58 CECR1 0 genome.wustl.edu 37 22 17662461 17662461 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 17662461 17662461 C T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.1448 p.S483N 0.995 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 tier1 - - 38 0 0.00 22 9 29.03 CELSR3 0 genome.wustl.edu 37 3 48679345 48679345 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 48679345 48679345 C - DEL CELSR3 ENST00000544264 human ensembl 74_37 -1 known frame_shift_del c.8778 p.R2927fs 0.997 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 80 0 0.00 61 9 12.86 CENPI 0 genome.wustl.edu 37 X 100364892 100364892 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 100364892 100364892 C T SNP CENPI ENST00000372927 human ensembl 74_37 +1 known missense c.496 p.R166C 1.000 pfam_CENP-I pfam_CENP-I - no_errors CENPI HGNC ENSG00000102384 tier1 - - 83 0 0.00 28 9 24.32 CEP104 0 genome.wustl.edu 37 1 3742955 3742955 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 3742955 3742955 G A SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known missense c.2234 p.P745L 0.010 NULL superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 tier1 rs201407033 - 52 0 0.00 33 9 21.43 CEP152 0 genome.wustl.edu 37 15 49076223 49076223 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 49076223 49076223 A G SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.1268 p.L423S 0.894 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 - - 55 0 0.00 58 4 6.45 CEP164P1 0 genome.wustl.edu 37 10 45498719 45498719 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 45498719 45498719 T C SNP CEP164P1 ENST00000456938 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CEP164P1 HGNC ENSG00000226937 tier1 - - 20 0 0.00 9 8 47.06 CEP170 0 genome.wustl.edu 37 1 243354507 243354507 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 243354507 243354507 G T SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.921 p.H307Q 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 tier1 - - 71 0 0.00 57 12 17.39 CEP170B 0 genome.wustl.edu 37 14 105354207 105354207 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 105354207 105354207 A G SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.3634 p.M1212V 0.074 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 tier1 - - 122 0 0.00 93 15 13.89 CEP350 0 genome.wustl.edu 37 1 180063462 180063462 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 180063462 180063462 A - DEL CEP350 ENST00000367607 human ensembl 74_37 +1 known frame_shift_del c.8222 p.K2743fs 0.101 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 57 0 0.00 31 12 27.91 CEP76 0 genome.wustl.edu 37 18 12699055 12699055 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 12699055 12699055 C T SNP CEP76 ENST00000262127 human ensembl 74_37 -1 known missense c.443 p.R148H 1.000 superfamily_C2_dom superfamily_C2_dom - no_errors CEP76 HGNC ENSG00000101624 tier1 - - 73 0 0.00 62 9 12.50 CES2 0 genome.wustl.edu 37 16 66977773 66977773 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 66977773 66977773 C T SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.1717 p.P573S 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 tier1 - - 97 0 0.00 95 11 10.38 CES5A 0 genome.wustl.edu 37 16 55909120 55909120 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 55909120 55909120 C A SNP CES5A ENST00000290567 human ensembl 74_37 -1 known missense c.14 p.W5L 0.310 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 tier1 - - 46 0 0.00 50 4 7.41 CES5AP1 0 genome.wustl.edu 37 22 23719224 23719224 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 23719224 23719224 C A SNP CES5AP1 ENST00000424029 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors CES5AP1 HGNC ENSG00000215478 tier1 - - 29 0 0.00 24 5 17.24 CETN3 0 genome.wustl.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 89701581 89701581 T - DEL CETN3 ENST00000283122 human ensembl 74_37 -1 known frame_shift_del c.189 p.A64fs 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 tier1 107 0 0.00 100 20 16.67 CETP 0 genome.wustl.edu 37 16 56996989 56996989 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 56996989 56996989 C T SNP CETP ENST00000200676 human ensembl 74_37 +1 known silent c.186 p.G62 0.004 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 tier1 - - 47 0 0.00 42 7 14.29 CHAF1A 0 genome.wustl.edu 37 19 4422628 4422629 + Frame_Shift_Del DEL AG AG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 4422628 4422629 AG - DEL CHAF1A ENST00000301280 human ensembl 74_37 +1 known frame_shift_del c.1083_1084 p.E362fs 0.362:0.964 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 tier1 40 0 0.00 35 8 18.60 CHAF1A 0 genome.wustl.edu 37 19 4433174 4433174 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 4433174 4433174 G A SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.2311 p.G771S 0.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 tier1 - - 147 0 0.00 136 16 10.53 CHD1 0 genome.wustl.edu 37 5 98194002 98194002 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 98194002 98194002 G A SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.4669 p.H1557Y 0.997 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 77 0 0.00 53 17 24.29 CHD1 0 genome.wustl.edu 37 5 98210788 98210788 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 98210788 98210788 C T SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.3428 p.G1143D 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 55 0 0.00 44 23 34.33 CHD3 0 genome.wustl.edu 37 17 7801849 7801849 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7801849 7801849 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.2087 p.R696H 0.997 superfamily_P-loop_NTPase pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 - - 35 0 0.00 25 12 32.43 CHD4 0 genome.wustl.edu 37 12 6700898 6700898 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 6700898 6700898 G T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.3184 p.L1062I 1.000 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 tier1 - - 64 0 0.00 45 4 8.16 CHD6 0 genome.wustl.edu 37 20 40052243 40052243 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 40052243 40052243 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.4444 p.R1482C 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,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 CHD6 HGNC ENSG00000124177 tier1 - - 44 0 0.00 31 11 26.19 CHD8 0 genome.wustl.edu 37 14 21868338 21868339 + In_Frame_Ins INS - - ATA TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 21868338 21868339 - ATA INS CHD8 ENST00000399982 human ensembl 74_37 -1 known in_frame_ins c.4699_4698 p.1566in_frame_insY 1.000:1.000 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_P-loop_NTPase,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 tier1 55 0 0.00 61 12 16.44 CHD9 0 genome.wustl.edu 37 16 53276879 53276880 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 53276879 53276880 - A INS CHD9 ENST00000398510 human ensembl 74_37 +1 known frame_shift_ins c.3005_3006 p.N1004fs 1.000:1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,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 tier1 25 0 0.00 27 7 20.59 CHIC1 0 genome.wustl.edu 37 X 72783226 72783226 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 72783226 72783226 T C SNP CHIC1 ENST00000373502 human ensembl 74_37 +1 known missense c.106 p.S36P 0.993 NULL pfam_Golgin_A_7/ERF4 - no_errors CHIC1 HGNC ENSG00000204116 tier1 - - 46 0 0.00 16 10 38.46 CHM 0 genome.wustl.edu 37 X 85211363 85211363 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 85211363 85211363 A - DEL CHM ENST00000357749 human ensembl 74_37 -1 known frame_shift_del c.961 p.Y321fs 0.999 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 tier1 40 0 0.00 25 9 26.47 CHODL 0 genome.wustl.edu 37 21 19638458 19638458 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 19638458 19638458 A G SNP CHODL ENST00000338326 human ensembl 74_37 +1 known silent c.699 p.Q233 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CHODL HGNC ENSG00000154645 tier1 - - 45 0 0.00 46 17 26.98 CHPT1 0 genome.wustl.edu 37 12 102108338 102108338 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 102108338 102108338 T - DEL CHPT1 ENST00000229266 human ensembl 74_37 +1 known frame_shift_del c.478 p.F162fs 0.989 pfam_CDP-OH_P_trans,pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 tier1 141 0 0.00 99 21 17.50 CHRNA2 0 genome.wustl.edu 37 8 27324753 27324753 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 27324753 27324753 A G SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known missense c.442 p.Y148H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 tier1 - - 57 0 0.00 58 8 12.12 CHRNA6 0 genome.wustl.edu 37 8 42611064 42611064 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 42611064 42611064 C T SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known silent c.1278 p.S426 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 tier1 - - 53 0 0.00 72 7 8.86 CHRNB4 0 genome.wustl.edu 37 15 78917544 78917544 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 78917544 78917544 C - DEL CHRNB4 ENST00000261751 human ensembl 74_37 -1 known frame_shift_del c.1428 p.L477fs 0.868 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 tier1 54 0 0.00 42 10 19.23 CHRNE 0 genome.wustl.edu 37 17 4804100 4804100 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 4804100 4804100 G T SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.905 p.P302Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM 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 - no_errors CHRNE HGNC ENSG00000108556 tier1 - - 121 0 0.00 85 10 10.53 CHRNE 0 genome.wustl.edu 37 17 4805288 4805288 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 4805288 4805288 C T SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.439 p.V147I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd 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 - no_errors CHRNE HGNC ENSG00000108556 tier1 - - 89 0 0.00 43 15 25.86 CHST10 0 genome.wustl.edu 37 2 101023110 101023110 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 101023110 101023110 C A SNP CHST10 ENST00000542617 human ensembl 74_37 -1 known missense c.172 p.A58S 1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST10 HGNC ENSG00000115526 tier1 - - 34 0 0.00 15 3 16.67 CHST15 0 genome.wustl.edu 37 10 125804220 125804220 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 125804220 125804220 C T SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known silent c.762 p.P254 0.058 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 tier1 - - 29 0 0.00 26 7 21.21 CHST6 0 genome.wustl.edu 37 16 75512843 75512843 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 75512843 75512843 A T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.884 p.L295H 0.990 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 tier1 - - 57 0 0.00 30 13 30.23 CHST8 0 genome.wustl.edu 37 19 34263896 34263896 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 34263896 34263896 G A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known silent c.1203 p.Q401 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 25 0 0.00 23 3 11.54 CIC 0 genome.wustl.edu 37 19 42797376 42797376 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 42797376 42797376 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.3738 p.P1248fs 0.989 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 tier1 30 0 0.00 24 9 27.27 CIRBP-AS1 0 genome.wustl.edu 37 19 1268346 1268346 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 1268346 1268346 G A SNP CIRBP-AS1 ENST00000585832 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CIRBP-AS1 HGNC ENSG00000267493 tier1 - - 114 0 0.00 100 16 13.79 CIT 0 genome.wustl.edu 37 12 120156578 120156578 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 120156578 120156578 T C SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.3803 p.E1268G 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,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,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 tier1 - - 56 0 0.00 43 4 8.51 CIZ1 0 genome.wustl.edu 37 9 130928677 130928677 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 130928677 130928677 C A SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known missense c.2574 p.K858N 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 tier1 - - 159 0 0.00 120 24 16.67 CLCC1 0 genome.wustl.edu 37 1 109482717 109482717 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 109482717 109482717 A G SNP CLCC1 ENST00000356970 human ensembl 74_37 -1 known missense c.844 p.Y282H 1.000 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 tier1 - - 59 0 0.00 52 9 14.75 CLCF1 0 genome.wustl.edu 37 11 67132695 67132695 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 67132695 67132695 C T SNP CLCF1 ENST00000312438 human ensembl 74_37 -1 known missense c.590 p.R197H 1.000 pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CLCF1 HGNC ENSG00000175505 49 0 0.00 31 7 18.42 CLCN2 0 genome.wustl.edu 37 3 184075198 184075198 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 184075198 184075198 A C SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.850 p.F284V 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 tier1 - - 73 0 0.00 49 10 16.67 CLCN6 0 genome.wustl.edu 37 1 11883833 11883833 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 11883833 11883833 G A SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known missense c.523 p.V175I 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 tier1 - - 98 0 0.00 67 8 10.67 CLDN2 0 genome.wustl.edu 37 X 106171568 106171568 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 106171568 106171568 G A SNP CLDN2 ENST00000336803 human ensembl 74_37 +1 known missense c.110 p.G37D 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14 - no_errors CLDN2 HGNC ENSG00000165376 40 0 0.00 27 3 10.00 CLDN6 0 genome.wustl.edu 37 16 3065455 3065456 + Frame_Shift_Ins INS - - CC TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 3065455 3065456 0 CC INS CLDN6 ENST00000328796 human ensembl 74_37 -1 known frame_shift_ins c.568_567 p.S189fs 0.016:0.007 prints_Claudin6 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 106 0 0.00 85 9 9.57 CLDN7 0 genome.wustl.edu 37 17 7165359 7165359 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7165359 7165359 C A SNP CLDN7 ENST00000360325 human ensembl 74_37 -1 known missense c.4 p.A2S 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin7 - no_errors CLDN7 HGNC ENSG00000181885 tier1 - - 71 0 0.00 66 12 15.38 CLEC16A 0 genome.wustl.edu 37 16 11272339 11272339 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 11272339 11272339 C A SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2954 p.P985H 0.992 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 tier1 - - 62 0 0.00 43 9 17.31 CLEC18B 0 genome.wustl.edu 37 16 74447571 74447571 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 74447571 74447571 C T SNP CLEC18B ENST00000339953 human ensembl 74_37 -1 known missense c.460 p.V154M 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 129 0 0.00 112 11 8.94 CLEC9A 0 genome.wustl.edu 37 12 10205421 10205424 + RNA DEL TTTT TTTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 10205421 10205424 TTTT - DEL CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.008:0.006 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 39 0 0.00 26 5 16.13 CLGN 0 genome.wustl.edu 37 4 141317358 141317358 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 141317358 141317358 C A SNP CLGN ENST00000325617 human ensembl 74_37 -1 known missense c.886 p.D296Y 1.000 pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 tier1 - - 73 0 0.00 69 10 12.66 CLINT1 0 genome.wustl.edu 37 5 157236721 157236721 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 157236721 157236721 G T SNP CLINT1 ENST00000296951 human ensembl 74_37 -1 known missense c.556 p.L186M 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 tier1 - - 54 0 0.00 60 8 11.76 CLIP1 0 genome.wustl.edu 37 12 122848621 122848621 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 122848621 122848621 G T SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.691 p.L231I 0.999 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 tier1 - - 65 0 0.00 59 4 6.35 CLIP4 0 genome.wustl.edu 37 2 29412372 29412372 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 29412372 29412372 G A SNP CLIP4 ENST00000401617 human ensembl 74_37 +1 putative silent c.1617 p.T539 0.000 NULL pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 tier1 - - 89 0 0.00 59 11 15.71 CLPSL1 0 genome.wustl.edu 37 6 35754851 35754851 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 35754851 35754851 C T SNP CLPSL1 ENST00000373861 human ensembl 74_37 +1 known missense c.176 p.S59L 0.005 smart_Colipase,prints_Colipase smart_Colipase,prints_Colipase - no_errors CLPSL1 HGNC ENSG00000204140 tier1 - - 129 0 0.00 124 13 9.49 CLSTN3 0 genome.wustl.edu 37 12 7309000 7309000 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 7309000 7309000 G A SNP CLSTN3 ENST00000331148 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CLSTN3 HGNC ENSG00000139182 tier1 - - 46 0 0.00 26 6 18.75 CLSTN3 0 genome.wustl.edu 37 12 7310658 7310658 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 7310658 7310658 C - DEL CLSTN3 ENST00000266546 human ensembl 74_37 +1 known frame_shift_del c.2852 p.P953fs 0.088 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 tier1 30 0 0.00 23 9 28.12 CLVS1 0 genome.wustl.edu 37 8 62412295 62412295 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 62412295 62412295 T - DEL CLVS1 ENST00000518858 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CLVS1 HGNC ENSG00000177182 tier1 37 0 0.00 37 12 24.49 CMA1 0 genome.wustl.edu 37 14 24975364 24975364 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 24975364 24975364 G A SNP CMA1 ENST00000250378 human ensembl 74_37 -1 known missense c.470 p.P157L 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CMA1 HGNC ENSG00000092009 tier1 - - 37 0 0.00 22 8 26.67 CMTM1 0 genome.wustl.edu 37 16 66612868 66612868 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 66612868 66612868 C T SNP CMTM1 ENST00000332695 human ensembl 74_37 +1 known silent c.333 p.P111 0.000 NULL NULL - no_errors CMTM1 HGNC ENSG00000089505 tier1 - - 39 0 0.00 31 8 20.51 CNBD2 0 genome.wustl.edu 37 20 34599098 34599098 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 34599098 34599098 T C SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known silent c.1188 p.N396 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 54 0 0.00 47 3 6.00 CNNM1 0 genome.wustl.edu 37 10 101117391 101117391 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 101117391 101117391 C A SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known missense c.1696 p.L566M 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 tier1 - - 79 0 0.00 65 15 18.75 CNOT1 0 genome.wustl.edu 37 16 58559970 58559970 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 58559970 58559970 A G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.6526 p.F2176L 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 41 0 0.00 39 6 13.33 CNOT1 0 genome.wustl.edu 37 16 58577316 58577317 + Frame_Shift_Del DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 58577316 58577317 AA - DEL CNOT1 ENST00000441024 human ensembl 74_37 -1 known frame_shift_del c.4629_4628 p.F1543fs 0.000:0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 56 0 0.00 47 7 12.96 CNPY4 0 genome.wustl.edu 37 7 99720418 99720418 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 99720418 99720418 G T SNP CNPY4 ENST00000262932 human ensembl 74_37 +1 known missense c.354 p.Q118H 1.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY4 HGNC ENSG00000166997 tier1 - - 40 0 0.00 26 11 29.73 CNTD2 0 genome.wustl.edu 37 19 40729296 40729297 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 40729296 40729297 - G INS CNTD2 ENST00000430325 human ensembl 74_37 -1 known frame_shift_ins c.671_670 p.Q224fs 0.849:0.810 superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CNTD2 HGNC ENSG00000105219 tier1 24 0 0.00 24 5 17.24 CNTFR 0 genome.wustl.edu 37 9 34557906 34557906 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 34557906 34557906 G T SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known silent c.396 p.P132 0.984 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 tier1 - - 102 0 0.00 57 10 14.93 CNTLN 0 genome.wustl.edu 37 9 17457611 17457611 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 17457611 17457611 A G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known silent c.3204 p.A1068 0.998 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 134 0 0.00 103 33 24.26 CNTLN 0 genome.wustl.edu 37 9 17484318 17484318 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 17484318 17484318 A G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.3881 p.D1294G 0.997 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 48 0 0.00 51 8 13.56 CNTN3 0 genome.wustl.edu 37 3 74313552 74313552 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 74313552 74313552 T - DEL CNTN3 ENST00000263665 human ensembl 74_37 -1 known frame_shift_del c.3087 p.*1029fs 0.982 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_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 60 0 0.00 54 10 15.62 CNTN5 0 genome.wustl.edu 37 11 99690293 99690293 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 99690293 99690293 C A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.74 p.P25H 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_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 70 0 0.00 72 7 8.86 CNTNAP1 0 genome.wustl.edu 37 17 40845373 40845373 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 40845373 40845373 C T SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known silent c.2811 p.N937 0.266 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 tier1 rs143795143 - 25 0 0.00 21 6 22.22 CNTNAP2 0 genome.wustl.edu 37 7 148112873 148112873 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 148112873 148112873 A - DEL CNTNAP2 ENST00000463592 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 73 0 0.00 37 22 37.29 CNTNAP4 0 genome.wustl.edu 37 16 76555129 76555129 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 76555129 76555129 T - DEL CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known frame_shift_del c.2455 p.F820fs 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 tier1 61 0 0.00 66 14 17.50 CNTNAP5 0 genome.wustl.edu 37 2 125192203 125192203 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 125192203 125192203 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.672 p.Q224 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 37 0 0.00 21 5 19.23 CNTROB 0 genome.wustl.edu 37 17 7839717 7839717 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7839717 7839717 C T SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known nonsense c.628 p.R210* 0.998 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 tier1 - - 59 0 0.00 36 10 21.74 COG5 0 genome.wustl.edu 37 7 107188598 107188598 + Nonsense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 107188598 107188598 G T SNP COG5 ENST00000297135 human ensembl 74_37 -1 known nonsense c.468 p.Y156* 1.000 pfam_Cog5 pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 tier1 - - 74 0 0.00 73 4 5.19 COG6 0 genome.wustl.edu 37 13 40253676 40253677 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 40253676 40253677 - T INS COG6 ENST00000455146 human ensembl 74_37 +1 known frame_shift_ins c.542_543 p.K184fs 0.998:0.592 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 tier1 37 0 0.00 18 12 40.00 COL11A1 0 genome.wustl.edu 37 1 103488445 103488445 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 103488445 103488445 G A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.1134 p.D378 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 47 0 0.00 37 5 11.90 COL12A1 0 genome.wustl.edu 37 6 75798824 75798824 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 75798824 75798824 G - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.9008 p.P3003fs 1.000 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 48 0 0.00 31 11 26.19 COL12A1 0 genome.wustl.edu 37 6 75866088 75866088 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 75866088 75866088 G - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.3135 p.T1046fs 0.377 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 62 0 0.00 44 25 36.23 COL15A1 0 genome.wustl.edu 37 9 101706453 101706453 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 101706453 101706453 C T SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known silent c.21 p.N7 0.618 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 tier1 - - 69 0 0.00 60 27 31.03 COL18A1 0 genome.wustl.edu 37 21 46930024 46930024 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 46930024 46930024 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.4787 p.G1596D 1.000 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 17 0 0.00 8 3 27.27 COL22A1 0 genome.wustl.edu 37 8 139706798 139706798 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 139706798 139706798 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known nonsense c.2653 p.Q885* 0.005 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 43 0 0.00 47 6 11.32 COL26A1 0 genome.wustl.edu 37 7 101194404 101194404 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 101194404 101194404 C T SNP COL26A1 ENST00000313669 human ensembl 74_37 +1 known nonsense c.1009 p.R337* 0.429 pfam_Collagen pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors COL26A1 HGNC ENSG00000160963 tier1 - - 145 0 0.00 115 19 14.07 COL2A1 0 genome.wustl.edu 37 12 48378778 48378778 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 48378778 48378778 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.1833 p.N611 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 tier1 - - 51 0 0.00 27 3 10.00 COL4A3 0 genome.wustl.edu 37 2 228128620 228128620 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 228128620 228128620 A G SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known silent c.1275 p.S425 0.815 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 82 0 0.00 56 11 16.18 COL4A5 0 genome.wustl.edu 37 X 107898611 107898611 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 107898611 107898611 T C SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known silent c.3297 p.S1099 0.009 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 56 0 0.00 38 5 11.63 COL6A1 0 genome.wustl.edu 37 21 47418819 47418819 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 47418819 47418819 G T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.1620 p.K540N 0.940 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 119 0 0.00 113 26 18.71 COL6A1 0 genome.wustl.edu 37 21 47423639 47423639 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 47423639 47423639 C T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known silent c.2799 p.G933 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 44 0 0.00 33 17 34.00 COL6A3 0 genome.wustl.edu 37 2 238232746 238232747 + RNA DEL CA CA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 238232746 238232747 CA - DEL COL6A3 ENST00000473258 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors COL6A3 HGNC ENSG00000163359 tier1 116 0 0.00 71 9 11.25 COL6A5 0 genome.wustl.edu 37 3 130110080 130110080 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 130110080 130110080 A - DEL COL6A5 ENST00000265379 human ensembl 74_37 +1 known frame_shift_del c.2475 p.K827fs 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 tier1 67 0 0.00 30 7 18.92 COL7A1 0 genome.wustl.edu 37 3 48612871 48612871 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 48612871 48612871 G - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.6081 p.P2029fs 0.981 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 45 0 0.00 27 3 10.00 COL9A3 0 genome.wustl.edu 37 20 61468612 61468612 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 61468612 61468612 C A SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1781 p.P594H 1.000 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 tier1 - - 155 0 0.00 99 42 29.79 COPB1 0 genome.wustl.edu 37 11 14515826 14515826 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 14515826 14515826 A T SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.251 p.I84N 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 tier1 - - 72 0 0.00 62 7 10.14 COPE 0 genome.wustl.edu 37 19 19016452 19016452 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 19016452 19016452 C T SNP COPE ENST00000598969 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COPE HGNC ENSG00000105669 tier1 - - 117 0 0.00 76 36 31.58 COX20 0 genome.wustl.edu 37 1 245005347 245005347 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 245005347 245005347 T - DEL COX20 ENST00000411948 human ensembl 74_37 +1 known frame_shift_del c.144 p.L50fs 0.988 pfam_Cox20/FAM36A,prints_FAM36A pfam_Cox20/FAM36A,prints_FAM36A - no_errors COX20 HGNC ENSG00000203667 tier1 128 0 0.00 122 13 9.63 COX7A1 0 genome.wustl.edu 37 19 36642594 36642594 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 36642594 36642594 G A SNP COX7A1 ENST00000292907 human ensembl 74_37 -1 known missense c.79 p.R27C 0.027 pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a - no_errors COX7A1 HGNC ENSG00000161281 tier1 - - 79 0 0.00 58 17 22.67 COX7A2L 0 genome.wustl.edu 37 2 42578275 42578276 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 42578275 42578276 AA - DEL COX7A2L ENST00000482463 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors COX7A2L HGNC ENSG00000115944 tier1 36 0 0.00 22 9 29.03 CPAMD8 0 genome.wustl.edu 37 19 17062998 17062998 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 17062998 17062998 A G SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.2430 p.G810 0.846 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 41 0 0.00 15 13 46.43 CPEB4 0 genome.wustl.edu 37 5 173383454 173383454 + RNA SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 173383454 173383454 A C SNP CPEB4 ENST00000519467 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CPEB4 HGNC ENSG00000113742 tier1 - - 34 0 0.00 18 8 30.77 CPLX2 0 genome.wustl.edu 37 5 175306035 175306035 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 175306035 175306035 C T SNP CPLX2 ENST00000359546 human ensembl 74_37 +1 known silent c.156 p.H52 0.897 pfam_Synaphin pfam_Synaphin - no_errors CPLX2 HGNC ENSG00000145920 tier1 - - 47 0 0.00 23 11 32.35 CPNE1 0 genome.wustl.edu 37 20 34218840 34218840 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 34218840 34218840 C A SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known silent c.993 p.V331 0.997 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 tier1 - - 37 0 0.00 38 4 9.52 CPNE7 0 genome.wustl.edu 37 16 89657608 89657608 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 89657608 89657608 G A SNP CPNE7 ENST00000268720 human ensembl 74_37 +1 known silent c.1467 p.A489 0.521 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE7 HGNC ENSG00000178773 tier1 - - 126 0 0.00 73 12 14.12 CPSF2 0 genome.wustl.edu 37 14 92601793 92601795 + In_Frame_Del DEL AGA AGA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 92601793 92601795 AGA - DEL CPSF2 ENST00000298875 human ensembl 74_37 +1 known in_frame_del c.498_500 p.E169in_frame_del 0.997:1.000:1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 tier1 56 0 0.00 47 7 12.96 CPSF7 0 genome.wustl.edu 37 11 61183898 61183898 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 61183898 61183898 A G SNP CPSF7 ENST00000340437 human ensembl 74_37 -1 known missense c.773 p.V258A 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC ENSG00000149532 tier1 - - 51 0 0.00 47 15 24.19 CRADD 0 genome.wustl.edu 37 12 94243848 94243848 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 94243848 94243848 T C SNP CRADD ENST00000332896 human ensembl 74_37 +1 known missense c.401 p.M134T 0.032 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_CARD,pfam_Death_domain,superfamily_DEATH-like_dom,smart_CARD,smart_Death_domain,pfscan_CARD,pfscan_Death_domain - no_errors CRADD HGNC ENSG00000169372 tier1 - - 67 0 0.00 39 20 33.90 CREBBP 0 genome.wustl.edu 37 16 3900661 3900661 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 3900661 3900661 G - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.435 p.A146fs 0.961 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 85 0 0.00 74 8 9.76 CREBBP 0 genome.wustl.edu 37 16 3843431 3843431 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 3843431 3843431 A G SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.1172 p.V391A 1.000 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 51 0 0.00 28 3 9.68 CREBZF 0 genome.wustl.edu 37 11 85371376 85371376 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 85371376 85371376 A - DEL CREBZF ENST00000531515 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors CREBZF HGNC ENSG00000137504 tier1 40 0 0.00 34 8 19.05 CRIM1 0 genome.wustl.edu 37 2 36774266 36774266 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 36774266 36774266 G T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.2886 p.Q962H 1.000 NULL pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 40 0 0.00 36 2 5.26 CROCC 0 genome.wustl.edu 37 1 17265554 17265554 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 17265554 17265554 C T SNP CROCC ENST00000375541 human ensembl 74_37 +1 known nonsense c.1525 p.R509* 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 tier1 - - 125 0 0.00 101 16 13.68 CROCC 0 genome.wustl.edu 37 1 17267529 17267530 + RNA INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 17267529 17267530 - T INS CROCC ENST00000466256 human ensembl 74_37 +1 known rna NULL NULL 0.057:0.102 - - - no_errors CROCC HGNC ENSG00000058453 tier1 32 0 0.00 25 7 21.88 CROCC 0 genome.wustl.edu 37 1 17287269 17287269 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 17287269 17287269 G A SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.4049 p.R1350Q 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 tier1 rs140278341 - 49 0 0.00 31 9 22.50 CROCC 0 genome.wustl.edu 37 1 17296892 17296892 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 17296892 17296892 C T SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.5596 p.R1866C 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 tier1 - - 98 0 0.00 77 15 16.30 CRP 0 genome.wustl.edu 37 1 159683861 159683861 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 159683861 159683861 C T SNP CRP ENST00000255030 human ensembl 74_37 -1 known silent c.129 p.P43 0.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 24 0 0.00 14 2 12.50 CRTAC1 0 genome.wustl.edu 37 10 99655012 99655012 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 99655012 99655012 G T SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.1476 p.H492Q 1.000 pfam_UnbV_ASPIC pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 tier1 - - 39 0 0.00 35 4 10.26 CRTAP 0 genome.wustl.edu 37 3 33161920 33161920 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 33161920 33161920 G A SNP CRTAP ENST00000320954 human ensembl 74_37 +1 known missense c.556 p.A186T 1.000 NULL NULL - no_errors CRTAP HGNC ENSG00000170275 tier1 - - 69 0 0.00 62 13 17.33 CRYAA 0 genome.wustl.edu 37 21 44589921 44589922 + Frame_Shift_Del DEL CC CC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 44589921 44589922 CC - DEL CRYAA ENST00000398133 human ensembl 74_37 +1 putative frame_shift_del c.87_88 p.H33fs 0.026:0.029 superfamily_HSP20-like_chaperone pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAA HGNC ENSG00000160202 tier1 69 0 0.00 51 28 35.44 CSF2RA 0 genome.wustl.edu 37 X 1424391 1424391 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 1424391 1424391 C T SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known silent c.1198 p.L400 0.003 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 175 0 0.00 88 18 16.98 CSMD1 0 genome.wustl.edu 37 8 3019724 3019724 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 3019724 3019724 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5804 p.N1935S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 61 0 0.00 77 5 6.10 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 51 0 0.00 37 8 17.78 CSNK1A1 0 genome.wustl.edu 37 5 148875308 148875311 + RNA DEL AAAA AAAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 148875308 148875311 AAAA - DEL CSNK1A1 ENST00000412431 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.004:0.004:0.004 - - - no_errors CTB-89H12.4 Clone_based_vega_gene ENSG00000230551 tier1 49 0 0.00 45 9 16.67 CSNK1A1 0 genome.wustl.edu 37 5 148875718 148875718 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 148875718 148875718 T C SNP CSNK1A1 ENST00000412431 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors CTB-89H12.4 Clone_based_vega_gene ENSG00000230551 tier1 - - 57 0 0.00 34 5 12.82 CSRNP3 0 genome.wustl.edu 37 2 166351278 166351278 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 166351278 166351278 A G SNP CSRNP3 ENST00000464503 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CSRNP3 HGNC ENSG00000178662 tier1 - - 46 0 0.00 36 10 21.74 CTBP1-AS2 0 genome.wustl.edu 37 4 1245880 1245880 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 1245880 1245880 A - DEL CTBP1-AS2 ENST00000581398 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTBP1-AS2 HGNC ENSG00000196810 tier1 33 0 0.00 33 9 21.43 CTC1 0 genome.wustl.edu 37 17 8135521 8135521 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 8135521 8135521 A G SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known silent c.2085 p.A695 0.010 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 tier1 - - 56 0 0.00 22 13 37.14 CTCFL 0 genome.wustl.edu 37 20 56090790 56090790 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 56090790 56090790 C T SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.1160 p.R387H 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 tier1 - - 49 0 0.00 41 16 28.07 CTNNA1 0 genome.wustl.edu 37 5 138266343 138266343 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 138266343 138266343 G A SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.2192 p.R731Q 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 tier1 - - 24 0 0.00 7 5 41.67 CTNNA2 0 genome.wustl.edu 37 2 79914694 79914694 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 79914694 79914694 T - DEL CTNNA2 ENST00000409266 human ensembl 74_37 +1 putative frame_shift_del c.107 p.S39fs 0.005 NULL superfamily_Vinculin/catenin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 76 0 0.00 58 15 20.55 CTNNB1 0 genome.wustl.edu 37 3 41275790 41275790 + Splice_Site SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 41275790 41275790 T C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known splice_site c.1683+2 e9+2 1.000 - - - no_errors CTNNB1 HGNC ENSG00000168036 32 0 0.00 32 8 20.00 CTNNBL1 0 genome.wustl.edu 37 20 36361416 36361416 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 36361416 36361416 A - DEL CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known frame_shift_del c.85 p.R31fs 1.000 pfam_CTNNBL1_N pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 tier1 40 0 0.00 42 7 14.29 CTRC 0 genome.wustl.edu 37 1 15766805 15766805 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 15766805 15766805 G A SNP CTRC ENST00000375949 human ensembl 74_37 +1 known missense c.50 p.C17Y 1.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTRC HGNC ENSG00000162438 tier1 - - 67 0 0.00 49 25 33.78 CTRL 0 genome.wustl.edu 37 16 67965003 67965003 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 67965003 67965003 G A SNP CTRL ENST00000574481 human ensembl 74_37 -1 known nonsense c.154 p.Q52* 1.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTRL HGNC ENSG00000141086 tier1 - - 52 0 0.00 48 16 25.00 CUBN 0 genome.wustl.edu 37 10 16878296 16878296 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 16878296 16878296 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.10118 p.V3373A 0.011 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 62 0 0.00 32 8 19.51 CUL1 0 genome.wustl.edu 37 7 148480914 148480914 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 148480914 148480914 A - DEL CUL1 ENST00000325222 human ensembl 74_37 +1 known frame_shift_del c.1123 p.K376fs 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 tier1 63 0 0.00 60 13 17.81 CUL4B 0 genome.wustl.edu 37 X 119672333 119672333 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 119672333 119672333 A - DEL CUL4B ENST00000497616 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CUL4B HGNC ENSG00000158290 tier1 19 0 0.00 15 5 25.00 CWH43 0 genome.wustl.edu 37 4 49063827 49063827 + Splice_Site SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 49063827 49063827 A T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known splice_site c.2022-2 e16-2 0.993 - - - no_errors CWH43 HGNC ENSG00000109182 tier1 - - 103 0 0.00 55 34 37.78 CWH43 0 genome.wustl.edu 37 4 48994006 48994006 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 48994006 48994006 G A SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.410 p.R137H 0.987 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 43 0 0.00 33 2 5.71 CXADRP3 0 genome.wustl.edu 37 18 14478405 14478405 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 14478405 14478405 C T SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 - - 36 0 0.00 21 8 27.59 CXADRP3 0 genome.wustl.edu 37 18 14478662 14478662 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 14478662 14478662 T - DEL CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.487 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 44 0 0.00 32 14 30.43 CXXC5 0 genome.wustl.edu 37 5 139060907 139060907 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 139060907 139060907 G A SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known missense c.799 p.A267T 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 tier1 - - 52 0 0.00 36 7 16.28 CXXC5 0 genome.wustl.edu 37 5 139062642 139062642 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 139062642 139062642 T - DEL CXXC5 ENST00000505812 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CXXC5 HGNC ENSG00000171604 tier1 66 0 0.00 39 12 23.53 CXorf64 0 genome.wustl.edu 37 X 125954833 125954833 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 125954833 125954833 A G SNP CXorf64 ENST00000371125 human ensembl 74_37 +1 known missense c.212 p.E71G 0.000 NULL NULL - no_errors CXorf64 HGNC ENSG00000183631 52 0 0.00 32 4 11.11 CYBA 0 genome.wustl.edu 37 16 88709879 88709879 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 88709879 88709879 G A SNP CYBA ENST00000261623 human ensembl 74_37 -1 known missense c.470 p.P157L 0.937 pfam_Cyt_b558_asu,pirsf_Cyt_b558_asu pfam_Cyt_b558_asu,pirsf_Cyt_b558_asu - no_errors CYBA HGNC ENSG00000051523 tier1 - - 18 0 0.00 10 5 33.33 CYLD 0 genome.wustl.edu 37 16 50826572 50826572 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 50826572 50826572 T - DEL CYLD ENST00000311559 human ensembl 74_37 +1 known frame_shift_del c.2306 p.P771fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 tier1 46 0 0.00 24 5 17.24 CYP11B2 0 genome.wustl.edu 37 8 143994125 143994125 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 143994125 143994125 G T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.1219 p.L407I 0.881 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 - - 105 0 0.00 111 11 9.02 CYP17A1 0 genome.wustl.edu 37 10 104590640 104590640 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 104590640 104590640 C T SNP CYP17A1 ENST00000369887 human ensembl 74_37 -1 known missense c.1346 p.R449H 1.000 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 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 tier1 - - 54 0 0.00 35 10 22.22 CYP2D6 0 genome.wustl.edu 37 22 42524306 42524306 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 42524306 42524306 C T SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.713 p.G238D 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 53 0 0.00 38 2 5.00 CYP2E1 0 genome.wustl.edu 37 10 135352525 135352525 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 135352525 135352525 G T SNP CYP2E1 ENST00000469258 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CYP2E1 HGNC ENSG00000130649 tier1 - - 52 0 0.00 24 14 36.84 CYP2F1 0 genome.wustl.edu 37 19 41633836 41633836 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 41633836 41633836 C T SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.1325 p.A442V 1.000 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 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 tier1 - - 80 0 0.00 55 10 15.38 CYP3A43 0 genome.wustl.edu 37 7 99457552 99457552 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 99457552 99457552 C T SNP CYP3A43 ENST00000222382 human ensembl 74_37 +1 known missense c.965 p.A322V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 tier1 - - 106 0 0.00 61 24 28.24 CYP4F35P 0 genome.wustl.edu 37 18 14339551 14339551 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 14339551 14339551 C A SNP CYP4F35P ENST00000582957 human ensembl 74_37 +1 known rna NULL NULL 0.052 - - - no_errors CYP4F35P HGNC ENSG00000265787 tier1 - - 35 0 0.00 24 11 31.43 CYS1 0 genome.wustl.edu 37 2 10199034 10199034 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 10199034 10199034 G A SNP CYS1 ENST00000381813 human ensembl 74_37 -1 known silent c.423 p.Y141 0.030 NULL NULL - no_errors CYS1 HGNC ENSG00000205795 tier1 - - 90 0 0.00 69 12 14.63 DAB1 0 genome.wustl.edu 37 1 57538024 57538024 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 57538024 57538024 G A SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.370 p.R124W 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 tier1 - - 61 0 0.00 54 15 21.74 DAGLA 0 genome.wustl.edu 37 11 61493483 61493483 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 61493483 61493483 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.565 p.G189S 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 30 0 0.00 25 4 13.79 DAK 0 genome.wustl.edu 37 11 61109365 61109365 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 61109365 61109365 C T SNP DAK ENST00000394900 human ensembl 74_37 +1 known silent c.636 p.D212 0.200 pfam_Dak1,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 tier1 - - 38 0 0.00 41 11 21.15 DAPK1 0 genome.wustl.edu 37 9 90321327 90321327 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 90321327 90321327 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.3416 p.R1139H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 - - 34 0 0.00 34 8 19.05 DAZAP2 0 genome.wustl.edu 37 12 51634238 51634238 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 51634238 51634238 A G SNP DAZAP2 ENST00000549555 human ensembl 74_37 +1 known missense c.125 p.Y42C 1.000 pfam_DAZ_assoc-2 pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 tier1 - - 58 0 0.00 54 11 16.67 DCAF13 0 genome.wustl.edu 37 8 104427646 104427646 + Nonsense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 104427646 104427646 C A SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known nonsense c.428 p.S143* 0.002 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 tier1 - - 27 0 0.00 20 8 28.57 DCAF15 0 genome.wustl.edu 37 19 14070191 14070191 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 14070191 14070191 C - DEL DCAF15 ENST00000254337 human ensembl 74_37 +1 known frame_shift_del c.1119 p.P375fs 0.970 NULL NULL - no_errors DCAF15 HGNC ENSG00000132017 tier1 50 0 0.00 41 5 10.87 DCAF6 0 genome.wustl.edu 37 1 168034884 168034884 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 168034884 168034884 C T SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known silent c.2496 p.G832 1.000 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 tier1 - - 60 0 0.00 39 18 31.58 DCAF8 0 genome.wustl.edu 37 1 160209942 160209942 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 160209942 160209942 T C SNP DCAF8 ENST00000608310 human ensembl 74_37 -1 known missense c.730 p.N244D 1.000 NULL pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 tier1 - - 40 0 0.00 28 5 15.15 DCHS1 0 genome.wustl.edu 37 11 6645455 6645456 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 6645455 6645456 - A INS DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_ins c.7452_7451 p.L2484fs 1.000:0.995 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 42 0 0.00 32 7 17.95 DCHS1 0 genome.wustl.edu 37 11 6662142 6662142 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 6662142 6662142 G - DEL DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_del c.703 p.R235fs 0.606 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 37 0 0.00 35 9 20.45 DCHS2 0 genome.wustl.edu 37 4 155160425 155160425 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 155160425 155160425 C - DEL DCHS2 ENST00000357232 human ensembl 74_37 -1 known frame_shift_del c.6024 p.Y2009fs 0.093 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 47 0 0.00 34 9 20.93 DCHS2 0 genome.wustl.edu 37 4 155412142 155412142 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 155412142 155412142 G A SNP DCHS2 ENST00000339452 human ensembl 74_37 -1 known silent c.366 p.T122 0.903 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 34 0 0.00 20 4 16.67 DCLK1 0 genome.wustl.edu 37 13 36445420 36445421 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 36445420 36445421 - T INS DCLK1 ENST00000360631 human ensembl 74_37 -1 known frame_shift_ins c.881_880 p.S294fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 46 0 0.00 33 6 15.38 DCLK1 0 genome.wustl.edu 37 13 36699950 36699950 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 36699950 36699950 A G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.325 p.Y109H 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 67 0 0.00 27 14 34.15 DCLK2 0 genome.wustl.edu 37 4 151023683 151023683 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 151023683 151023683 A - DEL DCLK2 ENST00000302176 human ensembl 74_37 +1 known frame_shift_del c.475 p.N160fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 tier1 62 0 0.00 36 9 20.00 DCLRE1A 0 genome.wustl.edu 37 10 115609832 115609832 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 115609832 115609832 A - DEL DCLRE1A ENST00000361384 human ensembl 74_37 -1 known frame_shift_del c.1032 p.F344fs 0.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 tier1 42 0 0.00 42 15 26.32 DCP1B 0 genome.wustl.edu 37 12 2061979 2061979 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 2061979 2061979 G T SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.1127 p.P376H 0.011 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 tier1 - - 52 0 0.00 37 8 17.78 DDAH1 0 genome.wustl.edu 37 1 85787101 85787101 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 85787101 85787101 C T SNP DDAH1 ENST00000483110 human ensembl 74_37 -1 known rna NULL NULL 0.651 - - - no_errors DDAH1 HGNC ENSG00000153904 tier1 - - 87 0 0.00 59 5 7.81 DDB1 0 genome.wustl.edu 37 11 61071386 61071386 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 61071386 61071386 C T SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.2783 p.R928H 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 tier1 - - 66 0 0.00 64 11 14.67 DDHD1 0 genome.wustl.edu 37 14 53527857 53527857 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 53527857 53527857 G A SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.1829 p.A610V 1.000 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 tier1 - - 42 0 0.00 57 8 12.31 DDHD2 0 genome.wustl.edu 37 8 38103301 38103301 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 38103301 38103301 G T SNP DDHD2 ENST00000397166 human ensembl 74_37 +1 known missense c.890 p.R297M 0.825 NULL pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 tier1 - - 63 0 0.00 63 10 13.70 DDN 0 genome.wustl.edu 37 12 49391444 49391444 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 49391444 49391444 C A SNP DDN ENST00000421952 human ensembl 74_37 -1 known missense c.1215 p.W405C 1.000 NULL NULL - no_errors DDN HGNC ENSG00000181418 tier1 - - 265 0 0.00 183 32 14.88 DDN 0 genome.wustl.edu 37 12 49391699 49391699 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 49391699 49391699 C A SNP DDN ENST00000421952 human ensembl 74_37 -1 known silent c.960 p.L320 0.004 NULL NULL - no_errors DDN HGNC ENSG00000181418 tier1 - - 69 0 0.00 50 9 15.25 DDX26B 0 genome.wustl.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 134680317 134680317 T - DEL DDX26B ENST00000370752 human ensembl 74_37 +1 known frame_shift_del c.352 p.L120fs 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 tier1 153 0 0.00 114 19 14.29 DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065 p.K691fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 tier1 70 0 0.00 36 17 32.08 DDX3X 0 genome.wustl.edu 37 X 41202035 41202035 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 41202035 41202035 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known silent c.489 p.Y163 0.993 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 tier1 - - 74 0 0.00 38 14 26.92 DDX43 0 genome.wustl.edu 37 6 74111695 74111696 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 74111695 74111696 - A INS DDX43 ENST00000370336 human ensembl 74_37 +1 known frame_shift_ins c.550_551 p.T186fs 0.036:0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,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 tier1 47 0 0.00 35 18 33.96 DDX60 0 genome.wustl.edu 37 4 169167687 169167687 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 169167687 169167687 T C SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.4046 p.K1349R 0.275 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 tier1 - - 58 0 0.00 43 7 14.00 DEDD 0 genome.wustl.edu 37 1 161091639 161091639 + RNA SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 161091639 161091639 A T SNP DEDD ENST00000489249 human ensembl 74_37 -1 known rna NULL NULL 0.173 - - - no_errors DEDD HGNC ENSG00000158796 tier1 - - 51 0 0.00 22 4 14.81 DEF6 0 genome.wustl.edu 37 6 35287364 35287364 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 35287364 35287364 C T SNP DEF6 ENST00000316637 human ensembl 74_37 +1 known missense c.1279 p.R427C 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 tier1 - - 75 0 0.00 58 12 17.14 DEFB112 0 genome.wustl.edu 37 6 50016318 50016318 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 50016318 50016318 T C SNP DEFB112 ENST00000322246 human ensembl 74_37 -1 known missense c.47 p.Y16C 0.000 NULL NULL - no_errors DEFB112 HGNC ENSG00000180872 tier1 - - 86 0 0.00 80 9 10.11 DENND1C 0 genome.wustl.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 6477251 6477251 G - DEL DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_del c.491 p.P164fs 0.983 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 tier1 96 0 0.00 82 16 16.33 DENND4A 0 genome.wustl.edu 37 15 66044893 66044893 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 66044893 66044893 C T SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.385 p.A129T 1.000 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 tier1 - - 63 0 0.00 62 4 5.97 DEPDC1 0 genome.wustl.edu 37 1 68947781 68947781 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 68947781 68947781 T G SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known missense c.1710 p.E570D 1.000 superfamily_Rho_GTPase_activation_prot pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 tier1 - - 89 0 0.00 61 14 18.67 DEPDC5 0 genome.wustl.edu 37 22 32270369 32270369 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 32270369 32270369 C T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.3608 p.A1203V 0.751 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 24 0 0.00 34 3 8.11 DGCR8 0 genome.wustl.edu 37 22 20074724 20074724 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 20074724 20074724 G T SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.760 p.G254C 1.000 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 tier1 - - 35 0 0.00 30 5 13.89 DGKG 0 genome.wustl.edu 37 3 185970893 185970893 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 185970893 185970893 C T SNP DGKG ENST00000265022 human ensembl 74_37 -1 known missense c.1589 p.R530H 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 tier1 - - 54 0 0.00 40 10 20.00 DGKH 0 genome.wustl.edu 37 13 42742607 42742607 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 42742607 42742607 C T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.1150 p.R384W 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,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 DGKH HGNC ENSG00000102780 55 0 0.00 64 4 5.88 DHFRL1 0 genome.wustl.edu 37 3 93780332 93780332 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 93780332 93780332 G A SNP DHFRL1 ENST00000314636 human ensembl 74_37 -1 known silent c.24 p.I8 1.000 pfam_DHFR_dom,superfamily_DHFR-like_dom pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR - no_errors DHFRL1 HGNC ENSG00000178700 tier1 - - 89 0 0.00 56 11 16.42 DHODH 0 genome.wustl.edu 37 16 72057170 72057170 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 72057170 72057170 G A SNP DHODH ENST00000219240 human ensembl 74_37 +1 known missense c.926 p.R309Q 1.000 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 - no_errors DHODH HGNC ENSG00000102967 tier1 - - 42 0 0.00 41 4 8.89 DHODH 0 genome.wustl.edu 37 16 72057492 72057492 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 72057492 72057492 G A SNP DHODH ENST00000219240 human ensembl 74_37 +1 known missense c.1093 p.V365I 0.966 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 - no_errors DHODH HGNC ENSG00000102967 tier1 - - 49 0 0.00 41 18 30.51 DHRS1 0 genome.wustl.edu 37 14 24766024 24766024 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 24766024 24766024 G A SNP DHRS1 ENST00000288111 human ensembl 74_37 -1 known nonsense c.214 p.R72* 0.007 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors DHRS1 HGNC ENSG00000157379 tier1 - - 48 0 0.00 22 9 29.03 DHRS12 0 genome.wustl.edu 37 13 52348164 52348164 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 52348164 52348164 C T SNP DHRS12 ENST00000444610 human ensembl 74_37 -1 known missense c.517 p.V173I 0.996 pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DHRS12 HGNC ENSG00000102796 tier1 rs145669707 - 28 0 0.00 20 6 23.08 DHRS13 0 genome.wustl.edu 37 17 27228278 27228278 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 27228278 27228278 G A SNP DHRS13 ENST00000378895 human ensembl 74_37 -1 known silent c.412 p.L138 1.000 pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRS13 HGNC ENSG00000167536 tier1 - - 30 0 0.00 30 4 11.76 DHX35 0 genome.wustl.edu 37 20 37647465 37647465 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 37647465 37647465 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.1421 p.R474H 0.895 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 tier1 - - 55 0 0.00 28 11 28.21 DHX38 0 genome.wustl.edu 37 16 72133686 72133686 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 72133686 72133686 C T SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.1016 p.P339L 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 tier1 - - 46 0 0.00 39 5 11.36 DHX40 0 genome.wustl.edu 37 17 57663593 57663593 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 57663593 57663593 A G SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known missense c.1423 p.R475G 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 tier1 - - 36 0 0.00 18 14 43.75 DHX57 0 genome.wustl.edu 37 2 39089427 39089427 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 39089427 39089427 G A SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known silent c.432 p.N144 0.943 NULL pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 tier1 - - 45 0 0.00 35 8 18.60 DHX9 0 genome.wustl.edu 37 1 182852698 182852698 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 182852698 182852698 C - DEL DHX9 ENST00000367549 human ensembl 74_37 +1 known frame_shift_del c.3188 p.L1065fs 0.984 pfam_DUF1605 pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 45 0 0.00 34 11 24.44 DIAPH2 0 genome.wustl.edu 37 X 96173528 96173528 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 96173528 96173528 C A SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.890 p.A297D 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 76 0 0.00 57 12 17.39 DIAPH3 0 genome.wustl.edu 37 13 60565348 60565348 + Silent SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 60565348 60565348 T A SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known silent c.1305 p.G435 0.995 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 tier1 - - 49 0 0.00 30 9 23.08 DICER1 0 genome.wustl.edu 37 14 95570269 95570269 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 95570269 95570269 G A SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.3464 p.T1155M 0.001 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 tier1 - - 37 0 0.00 38 17 30.91 DIEXF 0 genome.wustl.edu 37 1 210016856 210016856 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 210016856 210016856 G A SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known silent c.1842 p.T614 0.020 pfam_Digest_organ_expansion_fac-prd pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 tier1 rs138167313 - 27 0 0.00 18 7 28.00 DKC1 0 genome.wustl.edu 37 X 153994771 153994771 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 153994771 153994771 A - DEL DKC1 ENST00000473552 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DKC1 HGNC ENSG00000130826 tier1 25 0 0.00 15 4 21.05 DLC1 0 genome.wustl.edu 37 8 12943086 12943087 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 12943086 12943087 TT - DEL DLC1 ENST00000510318 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DLC1 HGNC ENSG00000164741 tier1 42 0 0.00 51 7 12.07 DLC1 0 genome.wustl.edu 37 8 13072282 13072282 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 13072282 13072282 C T SNP DLC1 ENST00000316609 human ensembl 74_37 -1 known silent c.1350 p.A450 0.000 NULL NULL - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 50 0 0.00 61 8 11.59 DLGAP4 0 genome.wustl.edu 37 20 35156540 35156541 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 35156540 35156541 TT - DEL DLGAP4 ENST00000475894 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.004 - - - no_errors DLGAP4 HGNC ENSG00000080845 tier1 69 0 0.00 36 36 50.00 DLK2 0 genome.wustl.edu 37 6 43419705 43419705 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 43419705 43419705 C T SNP DLK2 ENST00000357338 human ensembl 74_37 -1 known missense c.389 p.R130H 1.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK2 HGNC ENSG00000171462 tier1 - - 35 0 0.00 22 17 43.59 DLX3 0 genome.wustl.edu 37 17 48069105 48069105 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 48069105 48069105 C T SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known missense c.640 p.A214T 0.998 NULL pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 tier1 - - 63 0 0.00 15 18 54.55 DLX6 0 genome.wustl.edu 37 7 96635385 96635385 + Splice_Site SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 96635385 96635385 G A SNP DLX6 ENST00000007660 human ensembl 74_37 +1 known splice_site c.95+1 e1+1 0.997 - - - no_errors DLX6 HGNC ENSG00000006377 tier1 - - 62 0 0.00 46 10 17.86 DMD 0 genome.wustl.edu 37 X 32466646 32466646 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 32466646 32466646 T - DEL DMD ENST00000357033 human ensembl 74_37 -1 known frame_shift_del c.3713 p.K1238fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 72 0 0.00 54 9 14.29 DMD 0 genome.wustl.edu 37 X 32717262 32717262 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 32717262 32717262 A - DEL DMD ENST00000357033 human ensembl 74_37 -1 known frame_shift_del c.798 p.Q267fs 0.087 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 94 0 0.00 47 22 31.88 DMTF1 0 genome.wustl.edu 37 7 86817539 86817539 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 86817539 86817539 G T SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.1333 p.A445S 0.994 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 108 0 0.00 74 5 6.33 DNA2 0 genome.wustl.edu 37 10 70209862 70209862 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 70209862 70209862 A G SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known missense c.1120 p.Y374H 0.000 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 tier1 - - 85 0 0.00 78 11 12.36 DNAH10 0 genome.wustl.edu 37 12 124265628 124265628 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 124265628 124265628 T - DEL DNAH10 ENST00000409039 human ensembl 74_37 +1 known frame_shift_del c.440 p.L149fs 0.969 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 37 0 0.00 28 7 20.00 DNAH10 0 genome.wustl.edu 37 12 124325934 124325934 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 124325934 124325934 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.4848 p.A1616 0.995 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 48 0 0.00 36 11 23.40 DNAH10 0 genome.wustl.edu 37 12 124272528 124272528 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 124272528 124272528 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.1416 p.Q472H 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 69 0 0.00 49 4 7.55 DNAH11 0 genome.wustl.edu 37 7 21646139 21646140 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 21646139 21646140 0 A INS DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_ins c.3744_3745 p.C1250fs 1.000:1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 119 0 0.00 105 9 7.89 DNAH14 0 genome.wustl.edu 37 1 225267204 225267204 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 225267204 225267204 C T SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.2720 p.A907V 0.002 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 47 0 0.00 49 11 18.33 DNAH2 0 genome.wustl.edu 37 17 7646597 7646597 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7646597 7646597 T - DEL DNAH2 ENST00000082259 human ensembl 74_37 +1 known frame_shift_del c.2287 p.S766fs 0.000 NULL pfam_Dynein_heavy_dom-1 - no_errors DNAH2 HGNC ENSG00000183914 tier1 44 0 0.00 41 12 22.64 DNAH3 0 genome.wustl.edu 37 16 21136676 21136676 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 21136676 21136676 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.1224 p.C408 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 37 0 0.00 32 10 23.81 DNAH3 0 genome.wustl.edu 37 16 21128571 21128572 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 21128571 21128572 0 A INS DNAH3 ENST00000261383 human ensembl 74_37 -1 known frame_shift_ins c.1767_1766 p.L589fs 0.102:0.122 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 44 0 0.00 47 7 12.96 DNAH5 0 genome.wustl.edu 37 5 13864702 13864702 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 13864702 13864702 A - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.4400 p.L1467fs 0.990 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 60 0 0.00 56 7 11.11 DNAH6 0 genome.wustl.edu 37 2 84752796 84752796 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 84752796 84752796 A - DEL DNAH6 ENST00000237449 human ensembl 74_37 +1 known frame_shift_del c.333 p.S114fs 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 72 0 0.00 64 8 11.11 DNAJB6 0 genome.wustl.edu 37 7 157208759 157208761 + In_Frame_Del DEL GAA GAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 157208759 157208761 GAA - DEL DNAJB6 ENST00000262177 human ensembl 74_37 +1 known in_frame_del c.948_950 p.K320in_frame_del 0.982:1.000:1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB6 HGNC ENSG00000105993 tier1 49 0 0.00 32 16 33.33 DNASE1 0 genome.wustl.edu 37 16 3713375 3713375 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 3713375 3713375 G A SNP DNASE1 ENST00000575152 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DNASE1 HGNC ENSG00000213918 tier1 - - 32 0 0.00 18 6 25.00 DNM1P34 0 genome.wustl.edu 37 15 75593356 75593356 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 75593356 75593356 C T SNP DNM1P34 ENST00000567292 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors DNM1P34 HGNC ENSG00000260357 24 0 0.00 22 6 21.43 DNM3 0 genome.wustl.edu 37 1 171810847 171810847 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 171810847 171810847 G T SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known missense c.51 p.Q17H 1.000 superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 tier1 - - 132 0 0.00 103 26 20.16 DNMT1 0 genome.wustl.edu 37 19 10254537 10254537 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10254537 10254537 G A SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known silent c.3021 p.Y1007 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 45 0 0.00 46 6 11.54 DNTTIP2 0 genome.wustl.edu 37 1 94337659 94337659 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 94337659 94337659 T - DEL DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known frame_shift_del c.2036 p.N679fs 1.000 pfam_Fcf2 pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 tier1 91 0 0.00 70 12 14.63 DOC2A 0 genome.wustl.edu 37 16 30018407 30018407 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 30018407 30018407 G A SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.659 p.A220V 0.995 superfamily_C2_dom,pirsf_Doc2 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 tier1 - - 65 0 0.00 50 23 31.51 DOCK1 0 genome.wustl.edu 37 10 129242496 129242496 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 129242496 129242496 C T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.5303 p.P1768L 0.997 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 tier1 - - 38 0 0.00 40 5 11.11 DOCK2 0 genome.wustl.edu 37 5 169484630 169484630 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 169484630 169484630 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4427 p.P1476L 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 57 0 0.00 39 8 17.02 DOCK3 0 genome.wustl.edu 37 3 51264793 51264793 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 51264793 51264793 G T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.1457 p.R486L 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 63 0 0.00 62 4 6.06 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 45 0 0.00 27 11 28.95 DOCK6 0 genome.wustl.edu 37 19 11319375 11319375 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 11319375 11319375 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.5075 p.G1692D 0.954 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 20 0 0.00 18 6 25.00 DOCK6 0 genome.wustl.edu 37 19 11332655 11332655 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 11332655 11332655 C A SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.3422 p.S1141I 0.998 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 24 0 0.00 14 2 12.50 DOCK8 0 genome.wustl.edu 37 9 289570 289570 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 289570 289570 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.393 p.I131 0.922 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 rs139097471 - 85 0 0.00 74 11 12.94 DOCK8 0 genome.wustl.edu 37 9 328099 328099 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 328099 328099 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.972 p.A324 0.014 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 49 0 0.00 49 9 15.52 DOPEY2 0 genome.wustl.edu 37 21 37618129 37618129 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 37618129 37618129 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.3851 p.R1284H 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 41 0 0.00 29 5 14.71 DOPEY2 0 genome.wustl.edu 37 21 37661367 37661367 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 37661367 37661367 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.6378 p.T2126 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 rs148971960 - 42 0 0.00 35 9 20.45 DPCR1 0 genome.wustl.edu 37 6 30917619 30917619 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 30917619 30917619 C T SNP DPCR1 ENST00000462446 human ensembl 74_37 +1 novel missense c.1378 p.P460S 0.012 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 tier1 - - 76 0 0.00 71 12 14.46 DPF3 0 genome.wustl.edu 37 14 73137370 73137370 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 73137370 73137370 A - DEL DPF3 ENST00000557704 human ensembl 74_37 -1 known rna NULL NULL 0.953 - - - no_errors DPF3 HGNC ENSG00000205683 tier1 65 0 0.00 57 14 19.72 DPF3 0 genome.wustl.edu 37 14 73137761 73137762 + RNA INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 73137761 73137762 - A INS DPF3 ENST00000557704 human ensembl 74_37 -1 known rna NULL NULL 0.991:0.001 - - - no_errors DPF3 HGNC ENSG00000205683 tier1 37 0 0.00 26 5 16.13 DPF3 0 genome.wustl.edu 37 14 73159862 73159862 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 73159862 73159862 G T SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known missense c.829 p.L277M 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 tier1 - - 129 0 0.00 92 21 18.58 DPYD 0 genome.wustl.edu 37 1 98060679 98060679 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 98060679 98060679 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known silent c.894 p.T298 0.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 rs61758443 - 46 0 0.00 48 8 14.29 DPYSL4 0 genome.wustl.edu 37 10 134013961 134013961 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 134013961 134013961 C - DEL DPYSL4 ENST00000338492 human ensembl 74_37 +1 known frame_shift_del c.913 p.P306fs 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 tier1 76 0 0.00 61 15 19.74 DRD1 0 genome.wustl.edu 37 5 174869161 174869161 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 174869161 174869161 G A SNP DRD1 ENST00000393752 human ensembl 74_37 -1 known silent c.942 p.D314 0.059 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam - no_errors DRD1 HGNC ENSG00000184845 tier1 - - 30 0 0.00 15 10 40.00 DRGX 0 genome.wustl.edu 37 10 50594790 50594790 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 50594790 50594790 T A SNP DRGX ENST00000434016 human ensembl 74_37 -1 known missense c.364 p.I122F 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DRGX HGNC ENSG00000165606 tier1 - - 86 0 0.00 45 22 32.84 DSC3 0 genome.wustl.edu 37 18 28605749 28605749 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 28605749 28605749 G A SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known missense c.607 p.R203C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 tier1 - - 44 0 0.00 50 7 12.28 DSN1 0 genome.wustl.edu 37 20 35399448 35399448 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 35399448 35399448 T - DEL DSN1 ENST00000373745 human ensembl 74_37 -1 known frame_shift_del c.183 p.G63fs 0.000 NULL pfam_Dsn1/Mis13 - no_errors DSN1 HGNC ENSG00000149636 tier1 61 0 0.00 40 13 24.53 DSP 0 genome.wustl.edu 37 6 7574376 7574376 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 7574376 7574376 C A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.2188 p.L730I 0.998 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 45 0 0.00 28 16 36.36 DTHD1 0 genome.wustl.edu 37 4 36345167 36345167 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 36345167 36345167 C A SNP DTHD1 ENST00000456874 human ensembl 74_37 +1 known silent c.2067 p.L689 0.939 pfam_Death_domain,superfamily_DEATH-like_dom pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain - no_errors DTHD1 HGNC ENSG00000197057 23 0 0.00 33 7 17.50 DTWD1 0 genome.wustl.edu 37 15 49935658 49935658 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 49935658 49935658 A G SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known silent c.798 p.L266 0.988 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 50 0 0.00 40 3 6.98 DUSP10 0 genome.wustl.edu 37 1 221875662 221875662 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 221875662 221875662 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 25 0 0.00 11 11 50.00 DUSP9 0 genome.wustl.edu 37 X 152915674 152915674 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 152915674 152915674 G - DEL DUSP9 ENST00000342782 human ensembl 74_37 +1 known frame_shift_del c.1069 p.Q359fs 0.150 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 tier1 60 0 0.00 50 12 19.35 DYM 0 genome.wustl.edu 37 18 46690133 46690133 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 46690133 46690133 T - DEL DYM ENST00000269445 human ensembl 74_37 -1 known frame_shift_del c.1485 p.K495fs 0.906 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 tier1 48 0 0.00 42 5 10.64 DYNC1I2 0 genome.wustl.edu 37 2 172546762 172546762 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 172546762 172546762 A - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.97 p.E36fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 tier1 47 0 0.00 60 17 22.08 DYRK1B 0 genome.wustl.edu 37 19 40317456 40317456 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 40317456 40317456 G - DEL DYRK1B ENST00000323039 human ensembl 74_37 -1 known frame_shift_del c.1267 p.L423fs 0.864 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_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_dom - no_errors DYRK1B HGNC ENSG00000105204 tier1 50 0 0.00 28 5 15.15 DYSF 0 genome.wustl.edu 37 2 71681137 71681137 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 71681137 71681137 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.9 p.R3 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 94 0 0.00 91 6 6.19 E2F2 0 genome.wustl.edu 37 1 23845519 23845519 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 23845519 23845519 C T SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known missense c.841 p.D281N 0.998 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 tier1 - - 34 0 0.00 25 5 16.67 EAPP 0 genome.wustl.edu 37 14 35008585 35008585 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 35008585 35008585 C - DEL EAPP ENST00000555705 human ensembl 74_37 -1 known frame_shift_del c.250 p.E84fs 0.044 NULL NULL - no_errors EAPP HGNC ENSG00000129518 tier1 25 0 0.00 29 8 21.62 EBF1 0 genome.wustl.edu 37 5 158204526 158204526 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 158204526 158204526 G A SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.931 p.R311C 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 - - 32 0 0.00 30 18 37.50 EEF2K 0 genome.wustl.edu 37 16 22262606 22262606 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 22262606 22262606 G - DEL EEF2K ENST00000263026 human ensembl 74_37 +1 known frame_shift_del c.581 p.E196fs 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_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 tier1 30 0 0.00 25 3 10.71 EFCAB13 0 genome.wustl.edu 37 17 45473323 45473323 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 45473323 45473323 T C SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known missense c.1925 p.L642S 0.012 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 tier1 - - 45 0 0.00 36 9 20.00 EFEMP2 0 genome.wustl.edu 37 11 65638861 65638861 + Silent SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 65638861 65638861 G C SNP EFEMP2 ENST00000533347 human ensembl 74_37 -1 known silent c.180 p.G60 1.000 NULL NULL - no_errors EFEMP2 HGNC ENSG00000172638 tier1 - - 45 0 0.00 50 15 23.08 EFNB3 0 genome.wustl.edu 37 17 7608923 7608923 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7608923 7608923 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.7 p.H5fs 0.965 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 tier1 79 0 0.00 58 16 21.62 EGFLAM 0 genome.wustl.edu 37 5 38464038 38464038 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 38464038 38464038 G A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.3004 p.V1002M 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 - - 40 0 0.00 35 7 16.67 EGFR 0 genome.wustl.edu 37 7 55224336 55224336 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 55224336 55224336 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.1117 p.P373S 0.893 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,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_dom - no_errors EGFR HGNC ENSG00000146648 tier1 - - 47 0 0.00 42 17 28.81 EGLN2 0 genome.wustl.edu 37 19 41306746 41306746 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 41306746 41306746 C T SNP EGLN2 ENST00000303961 human ensembl 74_37 +1 known missense c.269 p.P90L 0.992 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN2 HGNC ENSG00000269858 45 0 0.00 22 4 15.38 EGR1 0 genome.wustl.edu 37 5 137802682 137802682 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 137802682 137802682 G A SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known missense c.544 p.A182T 0.993 pfam_DUF3446 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 77 0 0.00 53 3 5.36 EHD2 0 genome.wustl.edu 37 19 48219925 48219925 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 48219925 48219925 G A SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.56 p.R19H 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 tier1 - - 60 0 0.00 75 8 9.64 EHMT1 0 genome.wustl.edu 37 9 140707552 140707552 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 140707552 140707552 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.2962 p.A988T 0.825 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 tier1 - - 70 0 0.00 59 18 23.08 EIF2AK4 0 genome.wustl.edu 37 15 40241361 40241361 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 40241361 40241361 C T SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known silent c.405 p.S135 0.329 superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 tier1 - - 82 0 0.00 62 5 7.46 EIF2AK4 0 genome.wustl.edu 37 15 40318214 40318214 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 40318214 40318214 C T SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.4426 p.R1476C 1.000 superfamily_Anticodon-bd,pirsf_Ser/Thr_kinase_GCN2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 tier1 - - 47 0 0.00 25 22 46.81 EIF2B3 0 genome.wustl.edu 37 1 45407182 45407182 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 45407182 45407182 T - DEL EIF2B3 ENST00000360403 human ensembl 74_37 -1 known frame_shift_del c.450 p.A151fs 0.997 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 tier1 66 0 0.00 39 14 26.42 EIF3J 0 genome.wustl.edu 37 15 44829562 44829562 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 44829562 44829562 G - DEL EIF3J ENST00000261868 human ensembl 74_37 +1 known frame_shift_del c.84 p.G30fs 0.997 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 tier1 27 0 0.00 33 4 10.81 EIF3K 0 genome.wustl.edu 37 19 39127545 39127545 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 39127545 39127545 G T SNP EIF3K ENST00000248342 human ensembl 74_37 +1 known missense c.642 p.M214I 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold - no_errors EIF3K HGNC ENSG00000178982 tier1 - - 114 0 0.00 75 22 22.68 ELAVL3 0 genome.wustl.edu 37 19 11565666 11565666 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 11565666 11565666 G A SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known missense c.779 p.S260L 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 tier1 - - 48 0 0.00 49 8 14.04 ELMO1 0 genome.wustl.edu 37 7 37251076 37251076 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 37251076 37251076 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1001 p.A334V 0.992 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 63 0 0.00 49 7 12.50 ELN 0 genome.wustl.edu 37 7 73470749 73470749 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 73470749 73470749 G A SNP ELN ENST00000358929 human ensembl 74_37 +1 known silent c.1299 p.P433 0.075 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 tier1 - - 82 0 0.00 80 13 13.98 ELOVL1 0 genome.wustl.edu 37 1 43830364 43830364 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 43830364 43830364 A G SNP ELOVL1 ENST00000496932 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ELOVL1 HGNC ENSG00000066322 tier1 - - 42 0 0.00 29 7 19.44 EMC10 0 genome.wustl.edu 37 19 50985132 50985132 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 50985132 50985132 G - DEL EMC10 ENST00000376918 human ensembl 74_37 +1 known frame_shift_del c.693 p.A234fs 1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 tier1 82 0 0.00 80 20 20.00 EML2 0 genome.wustl.edu 37 19 46129994 46129994 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 46129994 46129994 C - DEL EML2 ENST00000587152 human ensembl 74_37 -1 known frame_shift_del c.1313 p.G438fs 0.991 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 tier1 95 0 0.00 76 12 13.64 EML4 0 genome.wustl.edu 37 2 42511825 42511825 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 42511825 42511825 C T SNP EML4 ENST00000318522 human ensembl 74_37 +1 known silent c.993 p.G331 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 - - 73 0 0.00 64 11 14.67 EML4 0 genome.wustl.edu 37 2 42557031 42557031 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 42557031 42557031 C T SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.2630 p.A877V 0.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 - - 53 0 0.00 23 8 25.81 EML5 0 genome.wustl.edu 37 14 89163272 89163272 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 89163272 89163272 T C SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.2263 p.I755V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 51 0 0.00 62 9 12.68 EML5 0 genome.wustl.edu 37 14 89181397 89181398 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 89181397 89181398 - T INS EML5 ENST00000554922 human ensembl 74_37 -1 known frame_shift_ins c.1330_1329 p.V443fs 0.989:0.969 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 54 0 0.00 41 16 28.07 EMR4P 0 genome.wustl.edu 37 19 6952853 6952853 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 6952853 6952853 G A SNP EMR4P ENST00000600751 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EMR4P HGNC ENSG00000268758 tier1 - - 24 0 0.00 5 3 37.50 EMX1 0 genome.wustl.edu 37 2 73143905 73143905 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 73143905 73143905 G T SNP EMX1 ENST00000394111 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EMX1 HGNC ENSG00000135638 tier1 - - 38 0 0.00 23 10 28.57 EMX2 0 genome.wustl.edu 37 10 119308258 119308258 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 119308258 119308258 T C SNP EMX2 ENST00000546446 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EMX2 HGNC ENSG00000170370 tier1 - - 73 0 0.00 41 24 36.92 EN1 0 genome.wustl.edu 37 2 119603905 119603905 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 119603905 119603905 C T SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.839 p.R280H 0.943 NULL pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 14 0 0.00 10 3 23.08 ENHO 0 genome.wustl.edu 37 9 34521524 34521524 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 34521524 34521524 G T SNP ENHO ENST00000399775 human ensembl 74_37 -1 known missense c.170 p.P57H 1.000 NULL NULL - no_errors ENHO HGNC ENSG00000168913 tier1 - - 59 0 0.00 36 11 22.92 ENO2 0 genome.wustl.edu 37 12 7026786 7026786 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 7026786 7026786 G A SNP ENO2 ENST00000229277 human ensembl 74_37 +1 known missense c.352 p.V118M 0.997 pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 tier1 - - 49 0 0.00 55 4 6.78 ENPEP 0 genome.wustl.edu 37 4 111397885 111397885 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 111397885 111397885 C T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known silent c.315 p.H105 0.780 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 tier1 - - 36 0 0.00 23 6 20.69 ENSG00000167765 0 genome.wustl.edu 37 19 52097515 52097515 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 52097515 52097515 C A SNP ENSG00000167765 ENST00000301439 human ensembl 74_37 -1 known silent c.60 p.A20 0.000 NULL NULL - no_errors AC018755.1 Clone_based_ensembl_gene ENSG00000167765 tier1 - - 38 0 0.00 37 4 9.76 ENSG00000183154 0 genome.wustl.edu 37 8 37593487 37593487 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 37593487 37593487 A - DEL ENSG00000183154 ENST00000330539 human ensembl 74_37 -1 putative frame_shift_del c.529 p.S177fs 0.002 NULL NULL - no_errors RP11-863K10.7 Clone_based_vega_gene ENSG00000183154 tier1 20 0 0.00 22 6 21.43 ENSG00000187695 0 genome.wustl.edu 37 3 128664075 128664075 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 128664075 128664075 C T SNP ENSG00000187695 ENST00000508239 human ensembl 74_37 -1 known silent c.735 p.Q245 1.000 NULL NULL - no_errors RP11-723O4.6 Clone_based_vega_gene ENSG00000187695 25 0 0.00 19 2 9.52 ENSG00000200294 0 genome.wustl.edu 37 10 73940733 73940733 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 73940733 73940733 T - DEL ENSG00000200294 ENST00000363424 human ensembl 74_37 +1 novel rna NULL NULL 0.371 - - - no_errors SNORA36 RFAM ENSG00000200294 tier1 22 0 0.00 14 4 22.22 ENSG00000203394 0 genome.wustl.edu 37 1 21069688 21069688 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 21069688 21069688 A - DEL ENSG00000203394 ENST00000413451 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP5-930J4.4 Clone_based_vega_gene ENSG00000203394 tier1 72 0 0.00 60 13 17.81 ENSG00000204792 0 genome.wustl.edu 37 2 75157506 75157506 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 75157506 75157506 G A SNP ENSG00000204792 ENST00000377469 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AC104135.3 Clone_based_vega_gene ENSG00000204792 25 0 0.00 33 7 17.50 ENSG00000205414 0 genome.wustl.edu 37 16 50640591 50640591 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 50640591 50640591 C T SNP ENSG00000205414 ENST00000379963 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-401P9.6 Clone_based_vega_gene ENSG00000205414 tier1 rs201124591 - 11 0 0.00 9 4 30.77 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64490 64490 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 GL000212.1 64490 64490 C T SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.239 p.P80L NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 73 0 0.00 43 19 30.65 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64846 64846 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 GL000212.1 64846 64846 C T SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.595 p.P199S NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 96 0 0.00 86 13 13.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65483 65483 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 GL000212.1 65483 65483 C T SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.1232 p.T411M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 82 0 0.00 52 11 17.46 ENSG00000214796 0 genome.wustl.edu 37 1 202822385 202822385 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 202822385 202822385 G - DEL ENSG00000214796 ENST00000443294 human ensembl 74_37 -1 known rna NULL NULL 0.272 - - - no_errors RP11-480I12.5 Clone_based_vega_gene ENSG00000214796 tier1 53 0 0.00 32 10 23.81 ENSG00000214797 0 genome.wustl.edu 37 11 59038011 59038012 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 59038011 59038012 AA - DEL ENSG00000214797 ENST00000399003 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-1036E20.9 Clone_based_vega_gene ENSG00000214797 tier1 40 0 0.00 32 6 15.79 ENSG00000215428 0 genome.wustl.edu 37 9 133278211 133278211 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 133278211 133278211 G A SNP ENSG00000215428 ENST00000277491 human ensembl 74_37 +1 novel missense c.157 p.A53T 0.056 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AL354898.1 Clone_based_ensembl_gene ENSG00000215428 tier1 - - 50 0 0.00 41 16 28.07 ENSG00000215953 0 genome.wustl.edu 37 5 84823872 84823872 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 84823872 84823872 G A SNP ENSG00000215953 ENST00000401134 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC026700.1 Clone_based_ensembl_gene ENSG00000215953 tier1 - - 43 0 0.00 42 7 14.29 ENSG00000221219 0 genome.wustl.edu 37 4 54969782 54969782 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 54969782 54969782 A G SNP ENSG00000221219 ENST00000408292 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC110298.1 Clone_based_ensembl_gene ENSG00000221219 tier1 rs56366082 - 41 0 0.00 26 8 22.86 ENSG00000221580 0 genome.wustl.edu 37 16 35136394 35136394 + RNA SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 35136394 35136394 A C SNP ENSG00000221580 ENST00000408653 human ensembl 74_37 +1 novel rna NULL NULL 0.094 - - - no_errors AC116553.1 Clone_based_ensembl_gene ENSG00000221580 tier1 - - 68 0 0.00 40 17 29.82 ENSG00000221660 0 genome.wustl.edu 37 8 68623877 68623877 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 68623877 68623877 T C SNP ENSG00000221660 ENST00000408733 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC022861.1 Clone_based_ensembl_gene ENSG00000221660 tier1 - - 45 0 0.00 35 4 10.26 ENSG00000221684 0 genome.wustl.edu 37 X 70979278 70979278 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 70979278 70979278 A G SNP ENSG00000221684 ENST00000408757 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors BX276092.1 Clone_based_ensembl_gene ENSG00000221684 tier1 - - 78 0 0.00 14 6 30.00 ENSG00000223730 0 genome.wustl.edu 37 22 45298176 45298177 + RNA INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 45298176 45298177 - A INS ENSG00000223730 ENST00000431036 human ensembl 74_37 +1 known rna NULL NULL 0.129:0.133 - - - no_errors RP1-127B20.4 Clone_based_vega_gene ENSG00000223730 tier1 8 0 0.00 6 3 33.33 ENSG00000223759 0 genome.wustl.edu 37 1 149673393 149673393 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 149673393 149673393 C T SNP ENSG00000223759 ENST00000443602 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-353N4.4 Clone_based_vega_gene ENSG00000223759 tier1 - - 27 0 0.00 23 4 14.81 ENSG00000225996 0 genome.wustl.edu 37 1 150523419 150523419 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 150523419 150523419 G T SNP ENSG00000225996 ENST00000538795 human ensembl 74_37 +1 known missense c.348 p.R116S 0.013 NULL NULL - no_errors AL356356.1 Clone_based_ensembl_gene ENSG00000225996 tier1 - - 28 0 0.00 20 6 23.08 ENSG00000226668 0 genome.wustl.edu 37 9 95646881 95646881 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 95646881 95646881 C T SNP ENSG00000226668 ENST00000411450 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 tier1 - - 268 0 0.00 210 43 17.00 ENSG00000227066 0 genome.wustl.edu 37 1 20485496 20485497 + RNA INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 20485496 20485497 - C INS ENSG00000227066 ENST00000431027 human ensembl 74_37 +1 known rna NULL NULL 0.299:0.301 - - - no_errors RP3-340N1.2 Clone_based_vega_gene ENSG00000227066 tier1 9 0 0.00 1 3 75.00 ENSG00000228748 0 genome.wustl.edu 37 10 79551102 79551104 + RNA DEL AAA AAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 79551102 79551104 AAA - DEL ENSG00000228748 ENST00000601701 human ensembl 74_37 +1 known rna NULL NULL 0.981:0.979:0.925 - - - no_errors RP13-39P12.3 Clone_based_vega_gene ENSG00000228748 tier1 59 0 0.00 44 4 8.33 ENSG00000229481 0 genome.wustl.edu 37 19 38321508 38321509 + RNA DEL CT CT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 38321508 38321509 CT - DEL ENSG00000229481 ENST00000443870 human ensembl 74_37 +1 known rna NULL NULL 0.918:0.863 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 tier1 53 0 0.00 32 6 15.79 ENSG00000230534 0 genome.wustl.edu 37 10 35415940 35415940 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 35415940 35415940 G A SNP ENSG00000230534 ENST00000457255 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-297A16.2 Clone_based_vega_gene ENSG00000230534 tier1 - - 27 0 0.00 16 7 30.43 ENSG00000231110 0 genome.wustl.edu 37 X 139298521 139298521 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 139298521 139298521 T - DEL ENSG00000231110 ENST00000458577 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC004070.1 Clone_based_vega_gene ENSG00000231110 tier1 102 0 0.00 69 12 14.81 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 tier1 11 0 0.00 15 5 25.00 ENSG00000231909 0 genome.wustl.edu 37 9 19461158 19461158 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 19461158 19461158 C T SNP ENSG00000231909 ENST00000438342 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-363E7.3 Clone_based_vega_gene ENSG00000231909 tier1 - - 39 0 0.00 37 9 19.57 ENSG00000232220 0 genome.wustl.edu 37 19 54379104 54379105 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 54379104 54379105 AA - DEL ENSG00000232220 ENST00000413496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000232220 tier1 18 0 0.00 19 3 13.64 ENSG00000233611 0 genome.wustl.edu 37 2 237186046 237186046 + RNA SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 237186046 237186046 A T SNP ENSG00000233611 ENST00000415226 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors AC079135.1 Clone_based_vega_gene ENSG00000233611 tier1 - - 74 0 0.00 66 13 16.46 ENSG00000234722 0 genome.wustl.edu 37 7 153110371 153110371 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 153110371 153110371 C T SNP ENSG00000234722 ENST00000416982 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors AC073236.3 Clone_based_vega_gene ENSG00000234722 tier1 - - 13 0 0.00 10 10 50.00 ENSG00000235615 0 genome.wustl.edu 37 2 132724261 132724261 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 132724261 132724261 C T SNP ENSG00000235615 ENST00000419362 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AJ239322.1 Clone_based_vega_gene ENSG00000235615 tier1 - - 45 0 0.00 29 5 14.71 ENSG00000236498 0 genome.wustl.edu 37 2 62095872 62095872 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 62095872 62095872 C A SNP ENSG00000236498 ENST00000425779 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC107081.5 Clone_based_vega_gene ENSG00000236498 tier1 - - 39 0 0.00 39 5 11.36 ENSG00000236817 0 genome.wustl.edu 37 1 247729143 247729143 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 247729143 247729143 T - DEL ENSG00000236817 ENST00000435333 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-978I15.10 Clone_based_vega_gene ENSG00000236817 tier1 36 0 0.00 31 7 18.42 ENSG00000236817 0 genome.wustl.edu 37 1 247729207 247729209 + RNA DEL TTT TTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 247729207 247729209 TTT - DEL ENSG00000236817 ENST00000435333 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors RP11-978I15.10 Clone_based_vega_gene ENSG00000236817 tier1 25 0 0.00 26 9 25.71 ENSG00000237102 0 genome.wustl.edu 37 16 67244705 67244705 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 67244705 67244705 C T SNP ENSG00000237102 ENST00000454102 human ensembl 74_37 -1 known missense c.295 p.G99S 0.825 NULL pfam_F-box_dom,superfamily_F-box_dom - no_errors AC040160.1 Clone_based_ensembl_gene ENSG00000237102 tier1 - - 73 0 0.00 61 9 12.68 ENSG00000237281 0 genome.wustl.edu 37 2 219215890 219215890 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 219215890 219215890 T - DEL ENSG00000237281 ENST00000411433 human ensembl 74_37 -1 known rna NULL NULL 0.199 - - - no_errors AC021016.8 Clone_based_vega_gene ENSG00000237281 tier1 51 0 0.00 45 9 16.67 ENSG00000238221 0 genome.wustl.edu 37 6 7298954 7298954 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 7298954 7298954 A G SNP ENSG00000238221 ENST00000379928 human ensembl 74_37 +1 known rna NULL NULL 0.126 - - - no_errors RP11-69L16.4 Clone_based_vega_gene ENSG00000238221 tier1 - - 28 0 0.00 9 9 50.00 ENSG00000239642 0 genome.wustl.edu 37 5 131214658 131214658 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 131214658 131214658 C A SNP ENSG00000239642 ENST00000446743 human ensembl 74_37 -1 known rna NULL NULL 0.825 - - - no_errors AC034228.7 Clone_based_vega_gene ENSG00000239642 tier1 - - 62 0 0.00 52 5 8.77 ENSG00000239642 0 genome.wustl.edu 37 5 131214681 131214682 + RNA INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 131214681 131214682 - T INS ENSG00000239642 ENST00000439905 human ensembl 74_37 -1 known rna NULL NULL 0.868:0.807 - - - no_errors AC034228.7 Clone_based_vega_gene ENSG00000239642 tier1 50 0 0.00 33 12 26.67 ENSG00000244151 0 genome.wustl.edu 37 7 150772273 150772273 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 150772273 150772273 C T SNP ENSG00000244151 ENST00000485974 human ensembl 74_37 -1 known rna NULL NULL 0.069 - - - no_errors RP11-148K1.12 Clone_based_vega_gene ENSG00000244151 tier1 - - 39 0 0.00 23 6 20.69 ENSG00000247049 0 genome.wustl.edu 37 5 180652113 180652113 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 180652113 180652113 T C SNP ENSG00000247049 ENST00000499096 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTC-338M12.7 Clone_based_vega_gene ENSG00000247049 tier1 - - 66 0 0.00 40 14 25.93 ENSG00000248544 0 genome.wustl.edu 37 5 156811601 156811601 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 156811601 156811601 C - DEL ENSG00000248544 ENST00000508443 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTB-47B11.3 Clone_based_vega_gene ENSG00000248544 tier1 59 0 0.00 44 8 15.38 ENSG00000251199 0 genome.wustl.edu 37 4 135248589 135248589 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 135248589 135248589 C T SNP ENSG00000251199 ENST00000504728 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-400D2.2 Clone_based_vega_gene ENSG00000251199 tier1 - - 48 0 0.00 23 4 14.81 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154813 + RNA DEL AAA AAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 78154811 78154813 AAA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006:0.000 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 23 0 0.00 28 5 15.15 ENSG00000255622 0 genome.wustl.edu 37 5 140537224 140537224 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140537224 140537224 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.1648 p.V550M 0.932 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 PCDHB17 Uniprot_gn ENSG00000255622 tier1 - - 234 0 0.00 211 24 10.21 ENSG00000257069 0 genome.wustl.edu 37 11 64060487 64060487 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 64060487 64060487 C T SNP ENSG00000257069 ENST00000539086 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors RP11-783K16.10 Clone_based_vega_gene ENSG00000257069 tier1 - - 93 0 0.00 61 16 20.51 ENSG00000257434 0 genome.wustl.edu 37 12 75435916 75435916 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 75435916 75435916 A - DEL ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 12 0 0.00 14 3 17.65 ENSG00000257743 0 genome.wustl.edu 37 7 141899767 141899767 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 141899767 141899767 T C SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative silent c.5136 p.I1712 0.979 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 117 0 0.00 80 10 11.11 ENSG00000257743 0 genome.wustl.edu 37 7 141920622 141920624 + In_Frame_Del DEL CTT CTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 141920622 141920624 CTT - DEL ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative in_frame_del c.6311_6313 p.S2105in_frame_del 0.003:0.001:0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 54 0 0.00 24 10 29.41 ENSG00000259455 0 genome.wustl.edu 37 15 23406344 23406344 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 23406344 23406344 C T SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel missense c.2492 p.R831Q 0.370 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 tier1 - - 49 0 0.00 42 6 12.50 ENSG00000260005 0 genome.wustl.edu 37 17 79204524 79204524 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 79204524 79204524 C T SNP ENSG00000260005 ENST00000575922 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC027601.1 Clone_based_vega_gene ENSG00000260005 tier1 - - 86 0 0.00 66 11 14.29 ENSG00000260628 0 genome.wustl.edu 37 16 31993273 31993273 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 31993273 31993273 G A SNP ENSG00000260628 ENST00000568570 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 tier1 - - 93 0 0.00 49 10 16.95 ENSG00000261238 0 genome.wustl.edu 37 16 51183171 51183171 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 51183171 51183171 T - DEL ENSG00000261238 ENST00000570060 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors AC009166.5 Clone_based_vega_gene ENSG00000261238 tier1 17 0 0.00 14 13 48.15 ENSG00000261759 0 genome.wustl.edu 37 16 19132370 19132371 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 19132370 19132371 TT - DEL ENSG00000261759 ENST00000567236 human ensembl 74_37 -1 known rna NULL NULL 0.985:0.987 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 tier1 45 0 0.00 43 7 14.00 ENSG00000261770 0 genome.wustl.edu 37 19 28248495 28248495 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 28248495 28248495 A - DEL ENSG00000261770 ENST00000562493 human ensembl 74_37 -1 known rna NULL NULL 0.809 - - - no_errors CTC-459F4.1 Clone_based_vega_gene ENSG00000261770 tier1 20 0 0.00 17 4 19.05 ENSG00000261863 0 genome.wustl.edu 37 17 4514128 4514128 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 4514128 4514128 G T SNP ENSG00000261863 ENST00000573270 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-141J13.5 Clone_based_vega_gene ENSG00000261863 tier1 - - 36 0 0.00 28 7 20.00 ENSG00000263272 0 genome.wustl.edu 37 17 5334805 5334806 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 5334805 5334806 AA - DEL ENSG00000263272 ENST00000575890 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors CTC-524C5.2 Clone_based_vega_gene ENSG00000263272 tier1 21 0 0.00 12 3 20.00 ENSG00000265015 0 genome.wustl.edu 37 18 15197707 15197707 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 15197707 15197707 G A SNP ENSG00000265015 ENST00000581666 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-454P7.3 Clone_based_vega_gene ENSG00000265015 tier1 - - 22 0 0.00 18 7 28.00 ENSG00000265194 0 genome.wustl.edu 37 9 21861903 21861904 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 21861903 21861904 TT - DEL ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 tier1 21 0 0.00 24 7 22.58 ENSG00000266002 0 genome.wustl.edu 37 17 57477848 57477849 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 57477848 57477849 TT - DEL ENSG00000266002 ENST00000585190 human ensembl 74_37 -1 known rna NULL NULL 0.648:0.971 - - - no_errors RP11-567L7.5 Clone_based_vega_gene ENSG00000266002 tier1 73 0 0.00 75 14 15.73 ENSG00000266156 0 genome.wustl.edu 37 19 20988370 20988370 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 20988370 20988370 T - DEL ENSG00000266156 ENST00000582722 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000266156 tier1 27 0 0.00 11 9 45.00 ENSG00000266560 0 genome.wustl.edu 37 X 151283730 151283730 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 151283730 151283730 G A SNP ENSG00000266560 ENST00000509345 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 tier1 - - 77 0 0.00 43 9 17.31 ENSG00000267075 0 genome.wustl.edu 37 17 20452595 20452595 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 20452595 20452595 C T SNP ENSG00000267075 ENST00000591705 human ensembl 74_37 +1 known rna NULL NULL 0.081 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 tier1 - - 46 0 0.00 33 6 15.38 ENSG00000267270 0 genome.wustl.edu 37 18 77927006 77927006 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 77927006 77927006 C T SNP ENSG00000267270 ENST00000587254 human ensembl 74_37 +1 putative missense c.290 p.A97V 0.000 NULL NULL - no_errors AC139100.2 Clone_based_vega_gene ENSG00000267270 42 0 0.00 31 3 8.57 ENSG00000267349 0 genome.wustl.edu 37 17 33805073 33805073 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 33805073 33805073 C T SNP ENSG00000267349 ENST00000587076 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-686D22.9 Clone_based_vega_gene ENSG00000267349 tier1 - - 58 0 0.00 36 12 25.00 ENSG00000267427 0 genome.wustl.edu 37 19 6211915 6211915 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 6211915 6211915 G A SNP ENSG00000267427 ENST00000586154 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CTC-503J8.6 Clone_based_vega_gene ENSG00000267427 26 0 0.00 13 6 31.58 ENSG00000267668 0 genome.wustl.edu 37 17 36003288 36003288 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 36003288 36003288 C - DEL ENSG00000267668 ENST00000586163 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-697E22.2 Clone_based_vega_gene ENSG00000267668 tier1 115 0 0.00 73 11 13.10 ENSG00000267980 0 genome.wustl.edu 37 19 4363922 4363922 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 4363922 4363922 C T SNP ENSG00000267980 ENST00000594444 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC007292.6 Clone_based_vega_gene ENSG00000267980 tier1 - - 31 0 0.00 37 7 15.91 ENSG00000268467 0 genome.wustl.edu 37 11 107462517 107462517 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 107462517 107462517 C T SNP ENSG00000268467 ENST00000600612 human ensembl 74_37 +1 known nonsense c.34 p.R12* 0.001 NULL NULL - no_errors AP000889.3 Clone_based_ensembl_gene ENSG00000268467 tier1 - - 93 0 0.00 67 9 11.84 ENSG00000268802 0 genome.wustl.edu 37 19 54864064 54864064 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 54864064 54864064 C T SNP ENSG00000268802 ENST00000596234 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2587H19.1 Clone_based_vega_gene ENSG00000268802 tier1 - - 70 0 0.00 38 4 9.52 ENSG00000269318 0 genome.wustl.edu 37 19 4357451 4357452 + RNA INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 4357451 4357452 - G INS ENSG00000269318 ENST00000593524 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors AC007292.3 Clone_based_vega_gene ENSG00000269318 tier1 96 0 0.00 73 9 10.98 ENSG00000271894 0 genome.wustl.edu 37 2 56612188 56612188 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 56612188 56612188 T - DEL ENSG00000271894 ENST00000607540 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-482H16.1 Clone_based_vega_gene ENSG00000271894 tier1 59 0 0.00 47 6 11.32 ENSG00000272054 0 genome.wustl.edu 37 2 37438027 37438027 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 37438027 37438027 C - DEL ENSG00000272054 ENST00000606229 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-423P10.2 Clone_based_vega_gene ENSG00000272054 tier1 41 0 0.00 34 10 22.73 ENSG00000272299 0 genome.wustl.edu 37 13 64412096 64412096 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 64412096 64412096 C 0 DEL ENSG00000272299 ENST00000606894 human ensembl 74_37 -1 known rna NULL NULL 0.188 - - - no_errors RP11-394A14.4 Clone_based_vega_gene ENSG00000272299 9 0 0.00 9 4 30.77 ENSG00000272750 0 genome.wustl.edu 37 1 222833383 222833383 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 222833383 222833383 T - DEL ENSG00000272750 ENST00000608771 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-378J18.8 Clone_based_vega_gene ENSG00000272750 tier1 12 0 0.00 20 5 20.00 ENSG00000272913 0 genome.wustl.edu 37 2 96191107 96191107 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 96191107 96191107 C T SNP ENSG00000272913 ENST00000609975 human ensembl 74_37 -1 known rna NULL NULL 0.806 - - - no_errors RP11-440D17.3 Clone_based_vega_gene ENSG00000272913 tier1 - - 33 0 0.00 19 9 32.14 ENSG00000273389 0 genome.wustl.edu 37 4 86921610 86921610 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 86921610 86921610 C - DEL ENSG00000273389 ENST00000610225 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP13-514E23.2 Clone_based_vega_gene ENSG00000273389 tier1 108 0 0.00 113 22 16.30 ENSG00000273455 0 genome.wustl.edu 37 3 135806703 135806704 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 135806703 135806704 TT - DEL ENSG00000273455 ENST00000608883 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.002 - - - no_errors RP11-305O4.3 Clone_based_vega_gene ENSG00000273455 tier1 63 0 0.00 46 19 29.23 ENTPD7 0 genome.wustl.edu 37 10 101458440 101458440 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 101458440 101458440 G A SNP ENTPD7 ENST00000370489 human ensembl 74_37 +1 known missense c.1160 p.S387N 0.998 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 tier1 - - 60 0 0.00 34 11 24.44 EP300 0 genome.wustl.edu 37 22 41513396 41513396 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 41513396 41513396 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known silent c.300 p.P100 0.995 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 61 0 0.00 35 9 20.45 EP400 0 genome.wustl.edu 37 12 132497561 132497561 + Missense_Mutation SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 132497561 132497561 C G SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.3557 p.A1186G 0.030 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 48 0 0.00 52 6 10.34 EPAS1 0 genome.wustl.edu 37 2 46608780 46608780 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 46608780 46608780 G A SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known silent c.2091 p.P697 0.090 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 tier1 - - 48 0 0.00 50 9 15.25 EPB41 0 genome.wustl.edu 37 1 29445784 29445784 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 29445784 29445784 T - DEL EPB41 ENST00000460378 human ensembl 74_37 +1 known rna NULL NULL 0.590 - - - no_errors EPB41 HGNC ENSG00000159023 tier1 61 0 0.00 44 19 30.16 EPB41L3 0 genome.wustl.edu 37 18 5406823 5406823 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 5406823 5406823 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2302 p.A768T 0.889 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 89 0 0.00 57 8 12.31 EPB41L3 0 genome.wustl.edu 37 18 5406836 5406836 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 5406836 5406836 G - DEL EPB41L3 ENST00000341928 human ensembl 74_37 -1 known frame_shift_del c.2289 p.V764fs 0.000 pirsf_Band_41_protein,pfam_SAB_dom pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 96 0 0.00 61 11 15.28 EPG5 0 genome.wustl.edu 37 18 43470004 43470005 + RNA INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 43470004 43470005 - A INS EPG5 ENST00000587973 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004 - - - no_errors EPG5 HGNC ENSG00000152223 tier1 16 0 0.00 11 4 26.67 EPHA10 0 genome.wustl.edu 37 1 38227207 38227207 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 38227207 38227207 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known silent c.720 p.C240 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,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_dom - no_errors EPHA10 HGNC ENSG00000183317 13 0 0.00 11 3 21.43 EPHA2 0 genome.wustl.edu 37 1 16462258 16462258 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 16462258 16462258 G - DEL EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_del c.1320 p.K441fs 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,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_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,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_dom - no_errors EPHA2 HGNC ENSG00000142627 tier1 75 0 0.00 48 6 11.11 EPHA4 0 genome.wustl.edu 37 2 222294769 222294769 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 222294769 222294769 C T SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.2599 p.D867N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_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_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 tier1 - - 48 0 0.00 45 5 9.80 EPHA7 0 genome.wustl.edu 37 6 93964433 93964433 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 93964433 93964433 A G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2464 p.Y822H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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_N_dom,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_dom - no_errors EPHA7 HGNC ENSG00000135333 65 0 0.00 45 3 6.25 EPHA8 0 genome.wustl.edu 37 1 22915633 22915633 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 22915633 22915633 G A SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.1249 p.G417S 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_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_N_dom,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_dom - no_errors EPHA8 HGNC ENSG00000070886 tier1 - - 76 0 0.00 56 10 15.15 EPHB1 0 genome.wustl.edu 37 3 134670233 134670233 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 134670233 134670233 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.144 p.Y48 0.172 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_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_N_dom,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_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 64 0 0.00 34 13 27.66 EPHB1 0 genome.wustl.edu 37 3 134670376 134670376 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 134670376 134670376 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.287 p.C96Y 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_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_N_dom,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_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 51 0 0.00 38 9 19.15 EPHB2 0 genome.wustl.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 23240246 23240246 A - DEL EPHB2 ENST00000400191 human ensembl 74_37 +1 known frame_shift_del c.3051 p.K1020fs 0.270 NULL pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 tier1 74 0 0.00 62 19 23.46 EPHX1 0 genome.wustl.edu 37 1 226026384 226026384 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 226026384 226026384 C - DEL EPHX1 ENST00000272167 human ensembl 74_37 +1 known frame_shift_del c.394 p.Q134fs 1.000 pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 tier1 16 0 0.00 22 8 26.67 EPPK1 0 genome.wustl.edu 37 8 144944886 144944886 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 144944886 144944886 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.2536 p.R846C 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 23 0 0.00 21 4 16.00 EPS8L2 0 genome.wustl.edu 37 11 726965 726965 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 726965 726965 G - DEL EPS8L2 ENST00000318562 human ensembl 74_37 +1 known frame_shift_del c.2132 p.E713fs 0.028 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 tier1 43 0 0.00 35 8 18.60 ERAS 0 genome.wustl.edu 37 X 48687785 48687785 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 48687785 48687785 G A SNP ERAS ENST00000338270 human ensembl 74_37 +1 known silent c.252 p.L84 0.003 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ERAS HGNC ENSG00000187682 tier1 - - 54 0 0.00 28 6 17.65 ERBB2 0 genome.wustl.edu 37 17 37881000 37881000 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 37881000 37881000 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2329 p.V777M 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,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_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 72 0 0.00 46 18 28.12 ERBB4 0 genome.wustl.edu 37 2 213403245 213403245 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 213403245 213403245 C T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.10 p.A4T 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,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_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 170 0 0.00 117 15 11.36 ERF 0 genome.wustl.edu 37 19 42753368 42753368 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 42753368 42753368 C - DEL ERF ENST00000222329 human ensembl 74_37 -1 known frame_shift_del c.896 p.G299fs 0.941 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 tier1 44 0 0.00 43 13 23.21 ERN2 0 genome.wustl.edu 37 16 23702270 23702270 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 23702270 23702270 C T SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.2807 p.R936Q 0.004 pfam_KEN_dom,smart_PUG-dom pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 37 0 0.00 22 2 8.33 ERVMER34-1 0 genome.wustl.edu 37 4 53610789 53610789 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 53610789 53610789 A - DEL ERVMER34-1 ENST00000440542 human ensembl 74_37 -1 known frame_shift_del c.899 p.L300fs 0.001 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVMER34-1 HGNC ENSG00000226887 tier1 68 0 0.00 33 6 15.38 ESPN 0 genome.wustl.edu 37 1 6504567 6504567 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 6504567 6504567 G A SNP ESPN ENST00000377828 human ensembl 74_37 +1 known silent c.1017 p.R339 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 tier1 - - 40 0 0.00 38 8 17.39 ESR2 0 genome.wustl.edu 37 14 64723982 64723982 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 64723982 64723982 G A SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known silent c.1053 p.P351 0.018 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 tier1 - - 58 0 0.00 30 13 30.23 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 59 0 0.00 67 8 10.67 ETS1 0 genome.wustl.edu 37 11 128359270 128359270 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 128359270 128359270 G A SNP ETS1 ENST00000392668 human ensembl 74_37 -1 known silent c.450 p.C150 0.940 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS1 HGNC ENSG00000134954 tier1 - - 63 0 0.00 58 21 26.58 EVC 0 genome.wustl.edu 37 4 5809991 5809991 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 5809991 5809991 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.2625 p.H875 0.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 tier1 - - 49 0 0.00 20 7 25.93 EVC2 0 genome.wustl.edu 37 4 5624385 5624385 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 5624385 5624385 C - DEL EVC2 ENST00000344408 human ensembl 74_37 -1 known frame_shift_del c.2380 p.E794fs 0.994 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 35 0 0.00 27 8 22.86 EVI5 0 genome.wustl.edu 37 1 93159366 93159366 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 93159366 93159366 T - DEL EVI5 ENST00000543509 human ensembl 74_37 -1 known frame_shift_del c.1222 p.M408fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 tier1 38 0 0.00 46 14 23.33 EVI5L 0 genome.wustl.edu 37 19 7920932 7920932 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 7920932 7920932 A G SNP EVI5L ENST00000538904 human ensembl 74_37 +1 known missense c.1178 p.Q393R 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 tier1 - - 124 0 0.00 80 21 20.79 EVI5L 0 genome.wustl.edu 37 19 7911536 7911536 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 7911536 7911536 G T SNP EVI5L ENST00000538904 human ensembl 74_37 +1 known missense c.108 p.E36D 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 72 0 0.00 60 4 6.25 EVPL 0 genome.wustl.edu 37 17 74019420 74019420 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 74019420 74019420 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.433 p.D145N 0.023 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 75 0 0.00 61 6 8.82 EXOSC9 0 genome.wustl.edu 37 4 122723894 122723894 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 122723894 122723894 T - DEL EXOSC9 ENST00000379663 human ensembl 74_37 +1 known frame_shift_del c.227 p.F78fs 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 EXOSC9 HGNC ENSG00000123737 tier1 74 0 0.00 44 9 16.98 EXPH5 0 genome.wustl.edu 37 11 108384340 108384340 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 108384340 108384340 A - DEL EXPH5 ENST00000265843 human ensembl 74_37 -1 known frame_shift_del c.1894 p.S632fs 0.049 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 tier1 42 0 0.00 47 7 12.96 EYA2 0 genome.wustl.edu 37 20 45771768 45771768 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 45771768 45771768 T C SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.959 p.L320P 1.000 pfam_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 33 0 0.00 24 2 7.69 EYS 0 genome.wustl.edu 37 6 64430615 64430615 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 64430615 64430615 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.9375 p.F3125 0.957 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 85 0 0.00 41 18 30.51 EYS 0 genome.wustl.edu 37 6 65336092 65336092 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 65336092 65336092 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.3490 p.E1164K 0.955 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 46 0 0.00 38 7 15.56 EYS 0 genome.wustl.edu 37 6 65622633 65622633 + Nonsense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 65622633 65622633 A T SNP EYS ENST00000370616 human ensembl 74_37 -1 known nonsense c.2385 p.C795* 0.969 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 29 0 0.00 24 3 11.11 F11R 0 genome.wustl.edu 37 1 160970945 160970945 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 160970945 160970945 G T SNP F11R ENST00000472573 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors F11R HGNC ENSG00000158769 tier1 - - 32 0 0.00 36 5 12.20 F13B 0 genome.wustl.edu 37 1 197021828 197021828 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 197021828 197021828 T C SNP F13B ENST00000367412 human ensembl 74_37 -1 known silent c.1491 p.P497 0.000 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 tier1 - - 66 0 0.00 38 6 13.64 F13B 0 genome.wustl.edu 37 1 197032137 197032137 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 197032137 197032137 A G SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.115 p.Y39H 1.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 29 0 0.00 17 4 19.05 F2 0 genome.wustl.edu 37 11 46751031 46751031 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 46751031 46751031 T C SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.1574 p.V525A 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 tier1 - - 53 0 0.00 29 21 42.00 FA2H 0 genome.wustl.edu 37 16 74752984 74752984 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 74752984 74752984 C T SNP FA2H ENST00000219368 human ensembl 74_37 -1 known missense c.688 p.E230K 0.999 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 tier1 - - 55 0 0.00 32 6 15.79 FAHD2B 0 genome.wustl.edu 37 2 97749725 97749725 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 97749725 97749725 G - DEL FAHD2B ENST00000272610 human ensembl 74_37 -1 known frame_shift_del c.842 p.P281fs 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 tier1 72 0 0.00 32 13 28.89 FAM109B 0 genome.wustl.edu 37 22 42473377 42473377 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 42473377 42473377 G - DEL FAM109B ENST00000321753 human ensembl 74_37 +1 known frame_shift_del c.80 p.G29fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 tier1 73 0 0.00 48 10 17.24 FAM117A 0 genome.wustl.edu 37 17 47788822 47788822 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 47788822 47788822 A G SNP FAM117A ENST00000240364 human ensembl 74_37 -1 known missense c.1157 p.L386P 1.000 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 tier1 - - 84 0 0.00 52 14 21.21 FAM117A 0 genome.wustl.edu 37 17 47797720 47797720 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 47797720 47797720 G T SNP FAM117A ENST00000240364 human ensembl 74_37 -1 known missense c.541 p.L181I 0.988 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 tier1 - - 40 0 0.00 37 11 22.92 FAM129B 0 genome.wustl.edu 37 9 130269287 130269287 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 130269287 130269287 G A SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.2078 p.P693L 0.034 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 tier1 - - 21 0 0.00 18 3 14.29 FAM135B 0 genome.wustl.edu 37 8 139209858 139209858 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 139209858 139209858 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known nonsense c.724 p.R242* 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 41 0 0.00 21 12 36.36 FAM160A2 0 genome.wustl.edu 37 11 6245433 6245433 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 6245433 6245433 C A SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.184 p.G62C 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 39 0 0.00 22 8 26.67 FAM160B1 0 genome.wustl.edu 37 10 116621264 116621264 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 116621264 116621264 G A SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.2263 p.A755T 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 41 0 0.00 34 3 8.11 FAM166B 0 genome.wustl.edu 37 9 35563286 35563286 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 35563286 35563286 G T SNP FAM166B ENST00000447837 human ensembl 74_37 -1 known missense c.163 p.P55T 1.000 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 42 0 0.00 49 4 7.55 FAM172A 0 genome.wustl.edu 37 5 93217282 93217282 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 93217282 93217282 C T SNP FAM172A ENST00000395965 human ensembl 74_37 -1 known missense c.680 p.R227Q 1.000 NULL pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 tier1 - - 63 0 0.00 29 6 17.14 FAM179A 0 genome.wustl.edu 37 2 29240775 29240775 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 29240775 29240775 G T SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known missense c.1313 p.S438I 1.000 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 tier1 - - 34 0 0.00 25 5 16.67 FAM182B 0 genome.wustl.edu 37 20 25847712 25847712 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 25847712 25847712 T C SNP FAM182B ENST00000424021 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors FAM182B HGNC ENSG00000175170 tier1 - - 26 0 0.00 10 7 41.18 FAM193A 0 genome.wustl.edu 37 4 2695555 2695555 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 2695555 2695555 C - DEL FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_del c.2173 p.P726fs 0.084 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 tier1 50 0 0.00 29 8 21.62 FAM20C 0 genome.wustl.edu 37 7 208908 208908 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 208908 208908 G - DEL FAM20C ENST00000313766 human ensembl 74_37 +1 known frame_shift_del c.795 p.G267fs 0.007 NULL pfam_DUF1193 - no_errors FAM20C HGNC ENSG00000177706 tier1 54 0 0.00 32 7 17.95 FAM214B 0 genome.wustl.edu 37 9 35106613 35106613 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 35106613 35106613 C T SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known silent c.981 p.G327 0.463 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 tier1 - - 89 0 0.00 66 11 14.29 FAM214B 0 genome.wustl.edu 37 9 35107838 35107838 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 35107838 35107838 C T SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known missense c.434 p.C145Y 0.019 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 tier1 - - 82 0 0.00 58 7 10.77 FAM218A 0 genome.wustl.edu 37 4 165878577 165878578 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 165878577 165878578 - T INS FAM218A ENST00000513876 human ensembl 74_37 +1 known frame_shift_ins c.403_404 p.V137fs 0.000:0.000 NULL NULL - no_errors FAM218A HGNC ENSG00000250486 tier1 43 0 0.00 27 4 12.90 FAM43B 0 genome.wustl.edu 37 1 20879658 20879658 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 20879658 20879658 G A SNP FAM43B ENST00000332947 human ensembl 74_37 +1 known silent c.192 p.E64 1.000 NULL smart_PTB/PI_dom - no_errors FAM43B HGNC ENSG00000183114 tier1 - - 64 0 0.00 46 4 8.00 FAM45A 0 genome.wustl.edu 37 10 120896691 120896691 + RNA SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 120896691 120896691 A T SNP FAM45A ENST00000489988 human ensembl 74_37 +1 known rna NULL NULL 0.914 - - - no_errors FAM45A HGNC ENSG00000119979 tier1 - - 89 0 0.00 45 19 29.23 FAM53B 0 genome.wustl.edu 37 10 126370628 126370628 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 126370628 126370628 C T SNP FAM53B ENST00000337318 human ensembl 74_37 -1 known missense c.454 p.V152I 1.000 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 tier1 - - 32 0 0.00 28 5 15.15 FAM53C 0 genome.wustl.edu 37 5 137673882 137673882 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 137673882 137673882 C T SNP FAM53C ENST00000505768 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM53C HGNC ENSG00000120709 tier1 - - 67 0 0.00 53 11 17.19 FAM71A 0 genome.wustl.edu 37 1 212799737 212799737 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 212799737 212799737 C T SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known silent c.1518 p.H506 0.362 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 tier1 - - 45 0 0.00 40 4 9.09 FAM83F 0 genome.wustl.edu 37 22 40417669 40417670 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 40417669 40417670 - C INS FAM83F ENST00000333407 human ensembl 74_37 +1 known frame_shift_ins c.1155_1156 p.V387fs 0.968:1.000 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 tier1 84 0 0.00 57 22 27.85 FAM83H 0 genome.wustl.edu 37 8 144809053 144809053 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 144809053 144809053 G A SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known missense c.2578 p.H860Y 0.015 NULL pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 tier1 - - 60 0 0.00 72 7 8.86 FAM90A1 0 genome.wustl.edu 37 12 8374830 8374830 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 8374830 8374830 G 0 DEL FAM90A1 ENST00000307435 human ensembl 74_37 -1 known frame_shift_del c.983 p.P328fs 0.001 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 197 0 0.00 176 18 9.28 FANCM 0 genome.wustl.edu 37 14 45644288 45644288 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 45644288 45644288 T C SNP FANCM ENST00000267430 human ensembl 74_37 +1 known silent c.2331 p.Y777 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 38 0 0.00 29 10 25.64 FARSB 0 genome.wustl.edu 37 2 223507641 223507641 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 223507641 223507641 G A SNP FARSB ENST00000281828 human ensembl 74_37 -1 known silent c.198 p.D66 0.041 superfamily_DNA-bd_dom_put,tigrfam_Phe-tRNA-synth_IIc_bsu_arc pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 tier1 rs201304892 - 78 0 0.00 58 18 23.68 FAT2 0 genome.wustl.edu 37 5 150923671 150923671 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 150923671 150923671 A G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.7017 p.Y2339 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 46 0 0.00 38 7 15.56 FAT2 0 genome.wustl.edu 37 5 150885626 150885626 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 150885626 150885626 T C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.12550 p.T4184A 0.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 57 0 0.00 49 7 12.50 FAT3 0 genome.wustl.edu 37 11 92507205 92507206 + Splice_Site INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 92507205 92507206 - G INS FAT3 ENST00000298047 human ensembl 74_37 +1 known splice_site_ins c.4196-2_4196-1 e6-1 1.000:1.000 - - - no_errors FAT3 HGNC ENSG00000165323 tier1 52 0 0.00 37 16 30.19 FAT3 0 genome.wustl.edu 37 11 92570878 92570878 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 92570878 92570878 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10274 p.A3425V 0.910 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 67 0 0.00 49 10 16.95 FAT3 0 genome.wustl.edu 37 11 92616433 92616433 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 92616433 92616433 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12811 p.P4271S 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 39 0 0.00 40 11 21.57 FBF1 0 genome.wustl.edu 37 17 73910971 73910971 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 73910971 73910971 C T SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.2629 p.G877R 0.981 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 tier1 - - 146 0 0.00 93 22 19.13 FBLL1 0 genome.wustl.edu 37 5 167957293 167957293 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 167957293 167957293 G A SNP FBLL1 ENST00000338333 human ensembl 74_37 +1 putative missense c.784 p.A262T 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBLL1 HGNC ENSG00000188573 tier1 - - 35 0 0.00 28 9 23.68 FBLN2 0 genome.wustl.edu 37 3 13612491 13612491 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 13612491 13612491 G - DEL FBLN2 ENST00000404922 human ensembl 74_37 +1 known frame_shift_del c.636 p.G214fs 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 43 0 0.00 45 8 15.09 FBN1 0 genome.wustl.edu 37 15 48784744 48784744 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 48784744 48784744 T - DEL FBN1 ENST00000316623 human ensembl 74_37 -1 known frame_shift_del c.2768 p.N923fs 1.000 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 88 0 0.00 51 14 21.54 FBN2 0 genome.wustl.edu 37 5 127873181 127873181 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 127873181 127873181 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.116 p.R39Q 0.436 pirsf_FBN pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 39 0 0.00 22 4 15.38 FBN3 0 genome.wustl.edu 37 19 8145954 8145954 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 8145954 8145954 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.7386 p.V2462 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 96 0 0.00 80 9 10.00 FBXO10 0 genome.wustl.edu 37 9 37541711 37541711 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 37541711 37541711 G A SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.55 p.H19Y 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 tier1 - - 59 0 0.00 35 13 27.08 FBXO31 0 genome.wustl.edu 37 16 87364978 87364978 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 87364978 87364978 G T SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known silent c.1536 p.V512 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 tier1 - - 77 0 0.00 42 13 23.64 FBXO31 0 genome.wustl.edu 37 16 87369001 87369001 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 87369001 87369001 G T SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known missense c.905 p.P302H 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 tier1 - - 204 0 0.00 169 17 9.14 FBXO7 0 genome.wustl.edu 37 22 32881117 32881117 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 32881117 32881117 G A SNP FBXO7 ENST00000266087 human ensembl 74_37 +1 known silent c.708 p.L236 1.000 pfam_FP_dom pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO7 HGNC ENSG00000100225 tier1 - - 53 0 0.00 48 8 14.29 FBXW10 0 genome.wustl.edu 37 17 18647920 18647920 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 18647920 18647920 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.363 p.I121 0.005 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 tier1 - - 103 0 0.00 110 18 14.06 FBXW11 0 genome.wustl.edu 37 5 171295620 171295620 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 171295620 171295620 C T SNP FBXW11 ENST00000522376 human ensembl 74_37 -1 known rna NULL NULL 0.548 - - - no_errors FBXW11 HGNC ENSG00000072803 tier1 - - 38 0 0.00 27 17 38.64 FBXW2 0 genome.wustl.edu 37 9 123550234 123550234 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 123550234 123550234 T C SNP FBXW2 ENST00000608872 human ensembl 74_37 -1 known silent c.303 p.A101 0.161 superfamily_F-box_dom,pfscan_F-box_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 18 0 0.00 28 2 6.67 FBXW7 0 genome.wustl.edu 37 4 153244156 153244156 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 153244156 153244156 C - DEL FBXW7 ENST00000281708 human ensembl 74_37 -1 known frame_shift_del c.2001 p.S668fs 0.990 smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 87 0 0.00 57 15 20.83 FCGBP 0 genome.wustl.edu 37 19 40433822 40433822 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 40433822 40433822 G - DEL FCGBP ENST00000221347 human ensembl 74_37 -1 known frame_shift_del c.447 p.G150fs 0.000 NULL 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_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 33 0 0.00 25 6 19.35 FCHSD1 0 genome.wustl.edu 37 5 141028581 141028581 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 141028581 141028581 G A SNP FCHSD1 ENST00000435817 human ensembl 74_37 -1 known silent c.519 p.N173 0.996 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 tier1 - - 61 0 0.00 42 8 16.00 FEM1A 0 genome.wustl.edu 37 19 4792689 4792689 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 4792689 4792689 T C SNP FEM1A ENST00000269856 human ensembl 74_37 +1 known missense c.823 p.S275P 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 FEM1A HGNC ENSG00000141965 tier1 - - 40 0 0.00 39 5 11.36 FER1L6 0 genome.wustl.edu 37 8 125033884 125033884 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 125033884 125033884 A - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.2108 p.I705fs 0.993 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 47 0 0.00 66 9 12.00 FERMT2 0 genome.wustl.edu 37 14 53326539 53326542 + RNA DEL TTTT TTTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 53326539 53326542 TTTT - DEL FERMT2 ENST00000557255 human ensembl 74_37 -1 known rna NULL NULL 0.120:0.125:0.144:0.160 - - - no_errors FERMT2 HGNC ENSG00000073712 tier1 21 0 0.00 16 3 15.79 FEZF2 0 genome.wustl.edu 37 3 62358148 62358148 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 62358148 62358148 G A SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known silent c.396 p.G132 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 15 0 0.00 12 3 18.75 FGA 0 genome.wustl.edu 37 4 155505987 155505988 + Splice_Site INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 155505987 155505988 - A INS FGA ENST00000302053 human ensembl 74_37 -1 known splice_site_ins c.1892-3_1892-2 e6-2 1.000:1.000 - - - no_errors FGA HGNC ENSG00000171560 tier1 39 0 0.00 42 4 8.70 FGD6 0 genome.wustl.edu 37 12 95501371 95501371 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 95501371 95501371 G T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known silent c.3301 p.R1101 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 38 0 0.00 28 4 12.50 FGD6 0 genome.wustl.edu 37 12 95603382 95603382 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 95603382 95603382 G A SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.1678 p.R560W 0.922 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 37 0 0.00 20 5 20.00 FGF14 0 genome.wustl.edu 37 13 102568949 102568949 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 102568949 102568949 G A SNP FGF14 ENST00000376143 human ensembl 74_37 -1 known missense c.47 p.A16V 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 tier1 - - 53 0 0.00 30 9 19.15 FGF5 0 genome.wustl.edu 37 4 81196142 81196142 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 81196142 81196142 A - DEL FGF5 ENST00000312465 human ensembl 74_37 +1 known frame_shift_del c.435 p.G148fs 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF5 HGNC ENSG00000138675 tier1 60 0 0.00 42 10 19.23 FGF5 0 genome.wustl.edu 37 4 81208236 81208236 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 81208236 81208236 T - DEL FGF5 ENST00000503413 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors FGF5 HGNC ENSG00000138675 tier1 63 0 0.00 58 9 13.43 FGFR2 0 genome.wustl.edu 37 10 123279622 123279622 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 123279622 123279622 G A SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known silent c.810 p.V270 0.032 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 tier1 rs150488750 - 71 0 0.00 37 6 13.95 FIGNL1 0 genome.wustl.edu 37 7 50513032 50513032 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 50513032 50513032 G A SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known nonsense c.1954 p.R652* 1.000 pfam_Vps4_C,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 tier1 - - 69 0 0.00 68 5 6.85 FILIP1 0 genome.wustl.edu 37 6 76018573 76018573 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 76018573 76018573 C T SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.3476 p.R1159H 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 tier1 rs147152005 - 98 0 0.00 58 15 20.55 FJX1 0 genome.wustl.edu 37 11 35642248 35642248 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 35642248 35642248 A - DEL FJX1 ENST00000532914 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FJX1 HGNC ENSG00000179431 tier1 39 0 0.00 31 14 31.11 FKBP10 0 genome.wustl.edu 37 17 39975559 39975559 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 39975559 39975559 C - DEL FKBP10 ENST00000321562 human ensembl 74_37 +1 known frame_shift_del c.825 p.G278fs 0.062 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 tier1 43 0 0.00 42 4 8.70 FKBP15 0 genome.wustl.edu 37 9 115941002 115941002 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 115941002 115941002 T - DEL FKBP15 ENST00000238256 human ensembl 74_37 -1 known frame_shift_del c.1994 p.K665fs 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 tier1 67 0 0.00 47 8 14.55 FKBP5 0 genome.wustl.edu 37 6 35565028 35565028 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 35565028 35565028 G T SNP FKBP5 ENST00000357266 human ensembl 74_37 -1 known missense c.662 p.P221Q 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP5 HGNC ENSG00000096060 75 0 0.00 76 4 5.00 FLNA 0 genome.wustl.edu 37 X 153581543 153581543 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 153581543 153581543 C - DEL FLNA ENST00000369850 human ensembl 74_37 -1 known frame_shift_del c.6052 p.E2018fs 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 tier1 76 0 0.00 37 6 13.95 FLNB 0 genome.wustl.edu 37 3 58117681 58117681 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 58117681 58117681 G A SNP FLNB ENST00000490882 human ensembl 74_37 +1 novel missense c.4418 p.R1473H 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 - - 49 0 0.00 35 7 16.67 FLT3 0 genome.wustl.edu 37 13 28608066 28608066 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 28608066 28608066 T C SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.1900 p.K634E 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 tier1 - - 64 0 0.00 44 9 16.98 FLT4 0 genome.wustl.edu 37 5 180038335 180038335 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 180038335 180038335 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.3682 p.A1228T 0.895 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 - - 68 0 0.00 61 8 11.59 FLT4 0 genome.wustl.edu 37 5 180050970 180050970 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 180050970 180050970 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.1513 p.D505N 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 - - 112 0 0.00 77 12 13.48 FLVCR2 0 genome.wustl.edu 37 14 76045399 76045399 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 76045399 76045399 G A SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known silent c.84 p.S28 0.002 superfamily_Trimer_LpxA-like pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 tier1 - - 71 0 0.00 35 21 37.50 FMN2 0 genome.wustl.edu 37 1 240256444 240256444 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 240256444 240256444 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.1035 p.T345 0.003 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 21 0 0.00 13 4 23.53 FN1 0 genome.wustl.edu 37 2 216256480 216256480 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 216256480 216256480 A G SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.4127 p.V1376A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 50 0 0.00 51 11 17.74 FNBP1 0 genome.wustl.edu 37 9 132720823 132720823 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 132720823 132720823 C T SNP FNBP1 ENST00000446176 human ensembl 74_37 -1 known missense c.355 p.D119N 1.000 superfamily_Ribosomal_S20 pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 tier1 - - 48 0 0.00 55 9 14.06 FNDC1 0 genome.wustl.edu 37 6 159653589 159653589 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 159653589 159653589 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.2045 p.R682H 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 32 0 0.00 26 3 10.34 FNTB 0 genome.wustl.edu 37 14 65482414 65482414 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 65482414 65482414 C - DEL FNTB ENST00000447296 human ensembl 74_37 +1 known frame_shift_del c.456 p.Q154fs 0.999 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 tier1 99 0 0.00 74 13 14.94 FOLH1 0 genome.wustl.edu 37 11 49175878 49175878 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 49175878 49175878 C T SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.1790 p.C597Y 1.000 superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 40 0 0.00 44 16 26.67 FOSL1 0 genome.wustl.edu 37 11 65660629 65660629 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 65660629 65660629 C - DEL FOSL1 ENST00000312562 human ensembl 74_37 -1 known frame_shift_del c.544 p.D182fs 0.008 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL1 HGNC ENSG00000175592 tier1 42 0 0.00 27 9 25.00 FOXC2 0 genome.wustl.edu 37 16 86602228 86602228 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 86602228 86602228 C T SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known silent c.1287 p.S429 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 21 0 0.00 9 3 25.00 FOXD3 0 genome.wustl.edu 37 1 63789525 63789525 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 63789525 63789525 G A SNP FOXD3 ENST00000371116 human ensembl 74_37 +1 known missense c.796 p.G266S 0.987 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 12 0 0.00 5 4 44.44 FOXG1 0 genome.wustl.edu 37 14 29237758 29237758 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 29237758 29237758 T C SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.1273 p.S425P 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 53 0 0.00 48 6 11.11 FOXH1 0 genome.wustl.edu 37 8 145701036 145701036 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 145701036 145701036 G A SNP FOXH1 ENST00000377317 human ensembl 74_37 -1 known missense c.104 p.P35L 0.992 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXH1 HGNC ENSG00000160973 tier1 - - 165 0 0.00 135 55 28.95 FOXI3 0 genome.wustl.edu 37 2 88751468 88751468 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 88751468 88751468 T C SNP FOXI3 ENST00000398142 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FOXI3 HGNC ENSG00000214336 tier1 - - 146 0 0.00 130 17 11.56 FOXI3 0 genome.wustl.edu 37 2 88751645 88751645 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 88751645 88751645 C T SNP FOXI3 ENST00000398142 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FOXI3 HGNC ENSG00000214336 38 0 0.00 39 4 9.30 FOXO3 0 genome.wustl.edu 37 6 108882886 108882886 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 108882886 108882886 A C SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.475 p.N159H 1.000 smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 tier1 - - 57 0 0.00 39 16 29.09 FOXP1 0 genome.wustl.edu 37 3 71008342 71008345 + RNA DEL TTTT TTTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 71008342 71008345 TTTT - DEL FOXP1 ENST00000460805 human ensembl 74_37 -1 known rna NULL NULL 0.439:0.024:0.024:0.017 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 36 0 0.00 34 5 12.82 FOXRED2 0 genome.wustl.edu 37 22 36897401 36897401 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 36897401 36897401 C T SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.1103 p.R368Q 0.957 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 tier1 - - 69 0 0.00 34 7 16.28 FPGT 0 genome.wustl.edu 37 1 74670324 74670324 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 74670324 74670324 C T SNP FPGT ENST00000370898 human ensembl 74_37 +1 known missense c.632 p.T211M 0.018 pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 tier1 - - 54 0 0.00 22 17 43.59 FPR3 0 genome.wustl.edu 37 19 52327515 52327515 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 52327515 52327515 G T SNP FPR3 ENST00000339223 human ensembl 74_37 +1 known missense c.514 p.G172W 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 tier1 - - 60 0 0.00 55 8 12.70 FREM2 0 genome.wustl.edu 37 13 39262085 39262085 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 39262085 39262085 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.604 p.A202T 0.483 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 68 0 0.00 61 6 8.96 FRMD6 0 genome.wustl.edu 37 14 52169254 52169254 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 52169254 52169254 A T SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.319 p.M107L 0.998 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 tier1 - - 64 0 0.00 50 4 7.41 FRMPD1 0 genome.wustl.edu 37 9 37737192 37737192 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 37737192 37737192 C A SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.1501 p.L501I 1.000 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 tier1 - - 58 0 0.00 42 5 10.64 FRMPD2 0 genome.wustl.edu 37 10 49440276 49440276 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 49440276 49440276 G A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known silent c.1050 p.N350 0.382 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 tier1 - - 36 0 0.00 23 9 28.12 FSCN3 0 genome.wustl.edu 37 7 127240252 127240252 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 127240252 127240252 G - DEL FSCN3 ENST00000265825 human ensembl 74_37 +1 known frame_shift_del c.1296 p.G434fs 1.000 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 tier1 74 0 0.00 44 7 13.73 FSHR 0 genome.wustl.edu 37 2 49190770 49190770 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 49190770 49190770 G A SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.1190 p.P397L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 37 0 0.00 20 5 20.00 FSTL5 0 genome.wustl.edu 37 4 162463686 162463686 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 162463686 162463686 T C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1175 p.Q392R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 70 0 0.00 59 15 20.27 FTCD 0 genome.wustl.edu 37 21 47571590 47571591 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 47571590 47571591 - C INS FTCD ENST00000359679 human ensembl 74_37 -1 known frame_shift_ins c.518_517 p.A173fs 1.000:1.000 pfam_Formiminotransferase_N,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 tier1 90 0 0.00 62 24 27.91 FTMT 0 genome.wustl.edu 37 5 121187725 121187725 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 121187725 121187725 C T SNP FTMT ENST00000321339 human ensembl 74_37 +1 known missense c.67 p.R23C 0.000 NULL pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 44 0 0.00 30 5 13.89 FUNDC1 0 genome.wustl.edu 37 X 44401202 44401202 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 44401202 44401202 G A SNP FUNDC1 ENST00000378045 human ensembl 74_37 -1 known silent c.174 p.G58 0.589 pfam_FUN14 pfam_FUN14 - no_errors FUNDC1 HGNC ENSG00000069509 tier1 - - 65 0 0.00 30 6 16.67 FYB 0 genome.wustl.edu 37 5 39153687 39153687 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 39153687 39153687 C T SNP FYB ENST00000540520 human ensembl 74_37 -1 known silent c.1185 p.T395 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 tier1 - - 112 0 0.00 86 15 14.85 FZD2 0 genome.wustl.edu 37 17 42635889 42635889 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 42635889 42635889 G A SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.833 p.R278Q 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 36 0 0.00 29 3 9.38 FZD3 0 genome.wustl.edu 37 8 28420373 28420373 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 28420373 28420373 C T SNP FZD3 ENST00000240093 human ensembl 74_37 +1 known nonsense c.1846 p.R616* 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 tier1 - - 41 0 0.00 42 17 28.81 GAA 0 genome.wustl.edu 37 17 78086479 78086479 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 78086479 78086479 C A SNP GAA ENST00000302262 human ensembl 74_37 +1 known missense c.1857 p.S619R 0.999 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 tier1 - - 117 0 0.00 61 15 19.74 GAB4 0 genome.wustl.edu 37 22 17488851 17488852 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 17488851 17488852 - G INS GAB4 ENST00000400588 human ensembl 74_37 -1 known frame_shift_ins c.154_153 p.E51fs 0.063:0.067 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 tier1 48 0 0.00 37 7 15.91 GABRA2 0 genome.wustl.edu 37 4 46314639 46314639 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 46314639 46314639 A G SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.185 p.M62T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 tier1 - - 67 0 0.00 53 27 33.75 GABRA4 0 genome.wustl.edu 37 4 46967130 46967130 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 46967130 46967130 A G SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.991 p.F331L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 tier1 - - 62 0 0.00 44 8 15.38 GABRA5 0 genome.wustl.edu 37 15 27128522 27128522 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 27128522 27128522 A C SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.315 p.K105N 0.904 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 tier1 - - 75 0 0.00 48 18 27.27 GAL3ST2 0 genome.wustl.edu 37 2 242743356 242743356 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 242743356 242743356 C T SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known silent c.972 p.D324 0.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 tier1 - - 23 0 0.00 7 3 30.00 GALNT10 0 genome.wustl.edu 37 5 153796475 153796475 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 153796475 153796475 G A SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known silent c.1755 p.Q585 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 tier1 - - 78 0 0.00 68 5 6.76 GALNT13 0 genome.wustl.edu 37 2 155303149 155303149 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 155303149 155303149 C T SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.1570 p.H524Y 0.964 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 tier1 - - 48 0 0.00 28 16 36.36 GALNT8 0 genome.wustl.edu 37 12 4848347 4848347 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 4848347 4848347 T C SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known silent c.528 p.Y176 0.490 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 tier1 - - 46 0 0.00 48 13 21.31 GALNT8 0 genome.wustl.edu 37 12 4848418 4848418 + Missense_Mutation SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 4848418 4848418 C G SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.599 p.A200G 0.994 pfam_Glyco_trans_2 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 tier1 - - 61 0 0.00 48 15 23.81 GALNTL5 0 genome.wustl.edu 37 7 151680108 151680108 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 151680108 151680108 G A SNP GALNTL5 ENST00000392800 human ensembl 74_37 +1 known missense c.406 p.A136T 0.944 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 tier1 - - 49 0 0.00 42 7 14.29 GAP43 0 genome.wustl.edu 37 3 115395200 115395200 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 115395200 115395200 C - DEL GAP43 ENST00000305124 human ensembl 74_37 +1 known frame_shift_del c.371 p.Q126fs 1.000 pfam_Neuromodulin_C pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC ENSG00000172020 tier1 99 0 0.00 76 5 6.17 GAPDH 0 genome.wustl.edu 37 12 6646278 6646278 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 6646278 6646278 G - DEL GAPDH ENST00000229239 human ensembl 74_37 +1 known frame_shift_del c.339 p.G115fs 1.000 pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC ENSG00000111640 tier1 57 0 0.00 42 13 23.64 GAREM 0 genome.wustl.edu 37 18 29867973 29867973 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 29867973 29867973 G A SNP GAREM ENST00000269209 human ensembl 74_37 -1 known missense c.587 p.P196L 1.000 NULL superfamily_SAM/pointed - no_errors GAREM HGNC ENSG00000141441 tier1 - - 55 0 0.00 42 10 19.23 GATA3 0 genome.wustl.edu 37 10 8097653 8097653 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 8097653 8097653 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.35 p.S12N 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 tier1 - - 39 0 0.00 26 12 31.58 GATA3 0 genome.wustl.edu 37 10 8097679 8097679 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 8097679 8097679 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.61 p.G21R 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 tier1 - - 56 0 0.00 56 6 9.68 GATM 0 genome.wustl.edu 37 15 45668948 45668948 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 45668948 45668948 G - DEL GATM ENST00000396659 human ensembl 74_37 -1 known frame_shift_del c.139 p.R47fs 0.616 NULL NULL - no_errors GATM HGNC ENSG00000171766 tier1 43 0 0.00 30 7 18.92 GATS 0 genome.wustl.edu 37 7 99809346 99809346 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 99809346 99809346 C A SNP GATS ENST00000328453 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GATS Clone_based_vega_gene ENSG00000239521 tier1 - - 28 0 0.00 22 7 24.14 GBP7 0 genome.wustl.edu 37 1 89630424 89630424 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 89630424 89630424 T A SNP GBP7 ENST00000294671 human ensembl 74_37 -1 known missense c.308 p.D103V 0.280 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 tier1 - - 71 0 0.00 69 10 12.66 GCC1 0 genome.wustl.edu 37 7 127223205 127223205 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 127223205 127223205 G A SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known silent c.1191 p.R397 0.880 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 28 0 0.00 13 3 18.75 GCH1 0 genome.wustl.edu 37 14 55310393 55310393 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 55310393 55310393 C A SNP GCH1 ENST00000254299 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors GCH1 HGNC ENSG00000131979 tier1 - - 30 0 0.00 17 16 48.48 GCN1L1 0 genome.wustl.edu 37 12 120580391 120580391 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 120580391 120580391 G - DEL GCN1L1 ENST00000300648 human ensembl 74_37 -1 known frame_shift_del c.5749 p.R1917fs 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 104 0 0.00 64 27 29.67 GCNT2 0 genome.wustl.edu 37 6 10557097 10557097 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 10557097 10557097 C T SNP GCNT2 ENST00000316170 human ensembl 74_37 +1 known silent c.441 p.N147 0.576 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 tier1 - - 27 0 0.00 28 6 17.65 GCSHP3 0 genome.wustl.edu 37 2 206980715 206980715 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 206980715 206980715 T - DEL GCSHP3 ENST00000453039 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors AC007383.4 Clone_based_vega_gene ENSG00000231955 tier1 44 0 0.00 28 8 22.22 GDAP1L1 0 genome.wustl.edu 37 20 42907925 42907926 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 42907925 42907926 - A INS GDAP1L1 ENST00000342560 human ensembl 74_37 +1 known frame_shift_ins c.1089_1090 p.Y365fs 1.000:1.000 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1L1 HGNC ENSG00000124194 tier1 34 0 0.00 22 9 29.03 GDI2 0 genome.wustl.edu 37 10 5853844 5853844 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 5853844 5853844 A - DEL GDI2 ENST00000380132 human ensembl 74_37 -1 known frame_shift_del c.50 p.L17fs 0.024 prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI2 HGNC ENSG00000057608 tier1 25 0 0.00 27 8 22.86 GGA1 0 genome.wustl.edu 37 22 38019411 38019411 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 38019411 38019411 G A SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known silent c.687 p.T229 0.001 pfam_GAT,pfscan_GAT 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 tier1 - - 38 0 0.00 32 12 27.27 GH2 0 genome.wustl.edu 37 17 61958422 61958422 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 61958422 61958422 T C SNP GH2 ENST00000332800 human ensembl 74_37 -1 known silent c.258 p.T86 0.181 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 tier1 - - 60 0 0.00 63 6 8.57 GIMAP1 0 genome.wustl.edu 37 7 150417407 150417407 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 150417407 150417407 C T SNP GIMAP1 ENST00000307194 human ensembl 74_37 +1 known silent c.315 p.Y105 0.119 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP1 HGNC ENSG00000213203 52 0 0.00 52 4 7.14 GIPC1 0 genome.wustl.edu 37 19 14591506 14591506 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 14591506 14591506 C T SNP GIPC1 ENST00000345425 human ensembl 74_37 -1 known missense c.373 p.A125T 1.000 superfamily_PDZ,pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 tier1 - - 53 0 0.00 44 11 20.00 GIPC1 0 genome.wustl.edu 37 19 14593518 14593518 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 14593518 14593518 G A SNP GIPC1 ENST00000345425 human ensembl 74_37 -1 known missense c.271 p.R91C 1.000 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 27 0 0.00 18 6 25.00 GJB6 0 genome.wustl.edu 37 13 20797451 20797451 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 20797451 20797451 G A SNP GJB6 ENST00000241124 human ensembl 74_37 -1 known nonsense c.169 p.Q57* 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 tier1 - - 41 0 0.00 42 5 10.64 GK5 0 genome.wustl.edu 37 3 141923492 141923492 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 141923492 141923492 A - DEL GK5 ENST00000487672 human ensembl 74_37 -1 known frame_shift_del c.456 p.L153fs 0.000 NULL pfam_Carb_kinase_FGGY_N - no_errors GK5 HGNC ENSG00000175066 tier1 47 0 0.00 47 14 22.95 GLCE 0 genome.wustl.edu 37 15 69548596 69548596 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 69548596 69548596 C T SNP GLCE ENST00000261858 human ensembl 74_37 +1 known missense c.451 p.R151W 0.975 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 tier1 - - 65 0 0.00 43 18 29.51 GLI2 0 genome.wustl.edu 37 2 121746728 121746728 + Missense_Mutation SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 121746728 121746728 G C SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.3238 p.E1080Q 0.024 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 23 0 0.00 25 2 7.41 GLIS2 0 genome.wustl.edu 37 16 4387133 4387133 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 4387133 4387133 G - DEL GLIS2 ENST00000262366 human ensembl 74_37 +1 known frame_shift_del c.1183 p.G397fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 tier1 25 0 0.00 11 4 26.67 GLO1 0 genome.wustl.edu 37 6 38652183 38652183 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 38652183 38652183 G A SNP GLO1 ENST00000373365 human ensembl 74_37 -1 known missense c.275 p.A92V 0.070 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 - no_errors GLO1 HGNC ENSG00000124767 tier1 - - 82 0 0.00 37 18 32.73 GLS 0 genome.wustl.edu 37 2 191765292 191765292 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 191765292 191765292 G T SNP GLS ENST00000320717 human ensembl 74_37 +1 known missense c.608 p.C203F 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 tier1 - - 50 0 0.00 54 4 6.90 GLTSCR1 0 genome.wustl.edu 37 19 48184449 48184449 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 48184449 48184449 G A SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known silent c.2022 p.P674 0.006 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 tier1 - - 38 0 0.00 35 9 20.45 GLUD2 0 genome.wustl.edu 37 X 120182541 120182541 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 120182541 120182541 G A SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.1003 p.G335R 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 tier1 - - 64 0 0.00 32 12 27.27 GLYR1 0 genome.wustl.edu 37 16 4862229 4862229 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 4862229 4862229 C - DEL GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_del c.1140 p.R381fs 0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 tier1 50 0 0.00 31 13 29.55 GMPS 0 genome.wustl.edu 37 3 155655421 155655421 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 155655421 155655421 T C SNP GMPS ENST00000496455 human ensembl 74_37 +1 known silent c.2022 p.G674 0.994 pfam_GMP_synth_C pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 70 0 0.00 41 4 8.89 GNA13 0 genome.wustl.edu 37 17 63052564 63052564 + Nonsense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 63052564 63052564 T A SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known nonsense c.148 p.K50* 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA13 HGNC ENSG00000120063 tier1 - - 101 0 0.00 72 15 17.05 GNA15 0 genome.wustl.edu 37 19 3162988 3162988 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 3162988 3162988 C T SNP GNA15 ENST00000262958 human ensembl 74_37 +1 known missense c.1096 p.R366C 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 18 0 0.00 24 3 11.11 GNL3 0 genome.wustl.edu 37 3 52720836 52720836 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 52720836 52720836 A - DEL GNL3 ENST00000418458 human ensembl 74_37 +1 known frame_shift_del c.65 p.K24fs 1.000 pfam_Gnl3_N_dom pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL3 HGNC ENSG00000163938 tier1 78 0 0.00 28 10 26.32 GOLGA4 0 genome.wustl.edu 37 3 37368076 37368076 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 37368076 37368076 C A SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.4699 p.Q1567K 0.970 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 tier1 - - 46 0 0.00 48 7 12.73 GOLGA4 0 genome.wustl.edu 37 3 37368806 37368806 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 37368806 37368806 T C SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.5429 p.L1810S 0.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 tier1 - - 33 0 0.00 28 9 24.32 GON4L 0 genome.wustl.edu 37 1 155753824 155753826 + In_Frame_Del DEL CTC CTC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 155753824 155753826 CTC - DEL GON4L ENST00000368331 human ensembl 74_37 -1 known in_frame_del c.1845_1843 p.E615in_frame_del 0.962:0.996:1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 105 0 0.00 85 9 9.57 GPALPP1 0 genome.wustl.edu 37 13 45602077 45602078 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 45602077 45602078 - A INS GPALPP1 ENST00000361121 human ensembl 74_37 +1 known frame_shift_ins c.962_963 p.S324fs 1.000:1.000 pfam_DUF3752 pfam_DUF3752 - no_errors GPALPP1 HGNC ENSG00000133114 tier1 106 0 0.00 81 13 13.83 GPATCH4 0 genome.wustl.edu 37 1 156571204 156571204 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156571204 156571204 C A SNP GPATCH4 ENST00000438976 human ensembl 74_37 -1 known missense c.28 p.D10Y 0.004 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 tier1 - - 49 0 0.00 55 7 11.29 GPBAR1 0 genome.wustl.edu 37 2 219128070 219128070 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 219128070 219128070 G A SNP GPBAR1 ENST00000479077 human ensembl 74_37 +1 known missense c.623 p.R208H 0.896 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPBAR1 HGNC ENSG00000179921 23 0 0.00 16 3 15.79 GPBP1L1 0 genome.wustl.edu 37 1 46093288 46093288 + RNA SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 46093288 46093288 T A SNP GPBP1L1 ENST00000479235 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GPBP1L1 HGNC ENSG00000159592 tier1 - - 115 0 0.00 104 13 11.11 GPC4 0 genome.wustl.edu 37 X 132439923 132439923 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 132439923 132439923 G - DEL GPC4 ENST00000370828 human ensembl 74_37 -1 known frame_shift_del c.1032 p.K345fs 0.073 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 tier1 72 0 0.00 48 9 15.79 GPR123 0 genome.wustl.edu 37 10 134912169 134912169 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 134912169 134912169 C T SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.2317 p.R773W 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 tier1 - - 89 0 0.00 50 28 35.90 GPR157 0 genome.wustl.edu 37 1 9165716 9165716 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 9165716 9165716 C T SNP GPR157 ENST00000377411 human ensembl 74_37 -1 known silent c.621 p.R207 0.968 pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_7TM,pfscan_GPCR_2-like,prints_GCR1-cAMP_receptor - no_errors GPR157 HGNC ENSG00000180758 tier1 - - 37 0 0.00 28 5 15.15 GPR158 0 genome.wustl.edu 37 10 25464743 25464743 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 25464743 25464743 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.394 p.A132T 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 68 0 0.00 47 9 16.07 GPR179 0 genome.wustl.edu 37 17 36499361 36499361 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 36499361 36499361 C A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.312 p.Q104H 1.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 54 0 0.00 46 4 8.00 GPR20 0 genome.wustl.edu 37 8 142367933 142367933 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 142367933 142367933 C T SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known missense c.91 p.E31K 0.809 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 tier1 - - 104 0 0.00 93 12 11.43 GPR37L1 0 genome.wustl.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 202097525 202097527 CTG - DEL GPR37L1 ENST00000367282 human ensembl 74_37 +1 known in_frame_del c.1287_1289 p.C433in_frame_del 0.998:0.998:0.996 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 tier1 54 0 0.00 61 5 7.58 GPR52 0 genome.wustl.edu 37 1 174417673 174417673 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 174417673 174417673 G A SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known missense c.424 p.A142T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 42 0 0.00 19 5 20.83 GPR98 0 genome.wustl.edu 37 5 89939702 89939702 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 89939702 89939702 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.2636 p.T879M 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 rs201007778 - 63 0 0.00 35 14 28.57 GPR98 0 genome.wustl.edu 37 5 90119242 90119242 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 90119242 90119242 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.16197 p.R5399 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 62 0 0.00 42 14 25.00 GPRIN2 0 genome.wustl.edu 37 10 47000073 47000073 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 47000073 47000073 T C SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known missense c.1193 p.V398A 1.000 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 tier1 - - 92 0 0.00 67 5 6.94 GPX7 0 genome.wustl.edu 37 1 53073995 53073995 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 53073995 53073995 G T SNP GPX7 ENST00000361314 human ensembl 74_37 +1 known missense c.462 p.K154N 1.000 superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 - no_errors GPX7 HGNC ENSG00000116157 tier1 - - 41 0 0.00 32 5 13.51 GRB14 0 genome.wustl.edu 37 2 165353548 165353548 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 165353548 165353548 C T SNP GRB14 ENST00000263915 human ensembl 74_37 -1 known missense c.1352 p.R451Q 0.893 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 tier1 - - 38 0 0.00 25 12 31.58 GREB1 0 genome.wustl.edu 37 2 11767102 11767102 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 11767102 11767102 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.4321 p.R1441W 0.321 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 55 0 0.00 49 8 14.04 GRID1 0 genome.wustl.edu 37 10 87407023 87407023 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 87407023 87407023 C A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.2129 p.R710L 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 57 0 0.00 53 3 5.36 GRID2 0 genome.wustl.edu 37 4 93225753 93225754 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 93225753 93225754 AA - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 tier1 41 0 0.00 30 10 25.00 GRIK2 0 genome.wustl.edu 37 6 102503431 102503432 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 102503431 102503432 - A INS GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_ins c.2538_2539 p.N848fs 1.000:1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 tier1 24 0 0.00 30 6 16.67 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 tier1 24 0 0.00 26 9 25.71 GRIK5 0 genome.wustl.edu 37 19 42509894 42509894 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 42509894 42509894 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known silent c.2244 p.Y748 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 49 0 0.00 34 4 10.53 GRIN2B 0 genome.wustl.edu 37 12 13764669 13764669 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 13764669 13764669 A G SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.1770 p.A590 0.915 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 tier1 - - 50 0 0.00 28 6 17.65 GRIN2C 0 genome.wustl.edu 37 17 72850835 72850835 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 72850835 72850835 T C SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.397 p.K133E 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 tier1 - - 60 0 0.00 52 5 8.77 GRIN3A 0 genome.wustl.edu 37 9 104390676 104390676 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 104390676 104390676 T C SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.2360 p.H787R 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 tier1 - - 47 0 0.00 48 8 14.29 GRM1 0 genome.wustl.edu 37 6 146720324 146720324 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 146720324 146720324 C A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2149 p.Q717K 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 63 0 0.00 25 17 40.48 GRM2 0 genome.wustl.edu 37 3 51749122 51749122 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 51749122 51749122 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1333 p.R445C 0.997 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 tier1 - - 80 0 0.00 45 6 11.76 GRM4 0 genome.wustl.edu 37 6 34059793 34059793 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 34059793 34059793 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.603 p.S201 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 tier1 - - 24 0 0.00 28 11 28.21 GSDMA 0 genome.wustl.edu 37 17 38133236 38133236 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 38133236 38133236 C - DEL GSDMA ENST00000301659 human ensembl 74_37 +1 known frame_shift_del c.1263 p.P422fs 0.997 NULL pfam_Gasdermin - no_errors GSDMA HGNC ENSG00000167914 tier1 70 0 0.00 55 14 20.29 GSN-AS1 0 genome.wustl.edu 37 9 124044851 124044851 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 124044851 124044851 C T SNP GSN-AS1 ENST00000414544 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GSN-AS1 HGNC ENSG00000235865 tier1 - - 12 0 0.00 15 5 25.00 GSX2 0 genome.wustl.edu 37 4 54966885 54966885 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 54966885 54966885 C T SNP GSX2 ENST00000326902 human ensembl 74_37 +1 known missense c.374 p.A125V 0.004 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GSX2 HGNC ENSG00000180613 tier1 - - 40 0 0.00 23 8 25.81 GTF2A2 0 genome.wustl.edu 37 15 59931126 59931126 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 59931126 59931126 A - DEL GTF2A2 ENST00000267869 human ensembl 74_37 -1 known rna NULL NULL 0.976 - - - no_errors GTF2A2 HGNC ENSG00000140307 tier1 50 0 0.00 33 6 15.38 GTF2IRD2P1 0 genome.wustl.edu 37 7 72657225 72657225 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 72657225 72657225 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 57 0 0.00 62 6 8.82 GTF3C1 0 genome.wustl.edu 37 16 27549607 27549607 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 27549607 27549607 C - DEL GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_del c.502 p.D168fs 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 37 0 0.00 20 4 16.67 GTF3C2 0 genome.wustl.edu 37 2 27558466 27558466 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 27558466 27558466 T C SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known silent c.1575 p.P525 0.996 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 tier1 - - 36 0 0.00 23 7 23.33 GTPBP2 0 genome.wustl.edu 37 6 43588291 43588292 + RNA DEL TA TA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 43588291 43588292 TA - DEL GTPBP2 ENST00000476510 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors GTPBP2 HGNC ENSG00000172432 tier1 32 0 0.00 23 5 17.86 GTSE1 0 genome.wustl.edu 37 22 46711989 46711989 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 46711989 46711989 G T SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known missense c.1112 p.S371I 0.117 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 tier1 - - 58 0 0.00 57 4 6.56 GUCY2C 0 genome.wustl.edu 37 12 14825857 14825857 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 14825857 14825857 C - DEL GUCY2C ENST00000261170 human ensembl 74_37 -1 known frame_shift_del c.1120 p.D374fs 0.958 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 tier1 55 0 0.00 39 13 25.00 GUF1 0 genome.wustl.edu 37 4 44700615 44700615 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 44700615 44700615 A - DEL GUF1 ENST00000281543 human ensembl 74_37 +1 known frame_shift_del c.1927 p.K645fs 0.999 pfam_LepA_GTP-bd_C,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 tier1 43 0 0.00 30 9 23.08 GUSB 0 genome.wustl.edu 37 7 65439350 65439350 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 65439350 65439350 G A SNP GUSB ENST00000304895 human ensembl 74_37 -1 known silent c.1323 p.P441 0.044 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2 pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 tier1 - - 56 0 0.00 32 9 21.95 GYLTL1B 0 genome.wustl.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 45948373 45948373 C - DEL GYLTL1B ENST00000325468 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 tier1 47 0 0.00 49 11 18.33 HAS3 0 genome.wustl.edu 37 16 69152342 69152342 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 69152342 69152342 C T SNP HAS3 ENST00000219322 human ensembl 74_37 +1 known missense c.823 p.R275C 0.000 NULL NULL - no_errors HAS3 HGNC ENSG00000103044 tier1 - - 72 0 0.00 42 15 26.32 HAUS3 0 genome.wustl.edu 37 4 2242634 2242634 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 2242634 2242634 T - DEL HAUS3 ENST00000243706 human ensembl 74_37 -1 known frame_shift_del c.40 p.I14fs 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 tier1 44 0 0.00 38 6 13.64 HCFC1 0 genome.wustl.edu 37 X 153220903 153220903 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 153220903 153220903 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.2947 p.A983T 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 44 0 0.00 33 3 8.33 HCFC2 0 genome.wustl.edu 37 12 104474575 104474575 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 104474575 104474575 G A SNP HCFC2 ENST00000229330 human ensembl 74_37 +1 known missense c.734 p.R245Q 1.000 pfam_Kelch_1 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 tier1 - - 82 0 0.00 63 16 20.25 HCFC2 0 genome.wustl.edu 37 12 104495909 104495909 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 104495909 104495909 C A SNP HCFC2 ENST00000229330 human ensembl 74_37 +1 known missense c.2042 p.P681H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 tier1 - - 49 0 0.00 40 8 16.67 HCG9 0 genome.wustl.edu 37 6 29942912 29942912 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 29942912 29942912 C T SNP HCG9 ENST00000376800 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HCG9 HGNC ENSG00000204625 tier1 - - 34 0 0.00 22 10 31.25 HCN4 0 genome.wustl.edu 37 15 73615063 73615063 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 73615063 73615063 C - DEL HCN4 ENST00000261917 human ensembl 74_37 -1 known frame_shift_del c.3371 p.G1124fs 0.564 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 tier1 10 0 0.00 9 7 43.75 HCRTR2 0 genome.wustl.edu 37 6 55145211 55145211 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 55145211 55145211 T C SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known silent c.1074 p.A358 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 tier1 - - 40 0 0.00 67 12 15.19 HDAC11 0 genome.wustl.edu 37 3 13546120 13546120 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 13546120 13546120 T C SNP HDAC11 ENST00000295757 human ensembl 74_37 +1 known silent c.981 p.P327 0.000 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 62 0 0.00 43 5 10.42 HDAC3 0 genome.wustl.edu 37 5 141005623 141005623 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 141005623 141005623 C T SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known silent c.936 p.S312 0.009 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 18 0 0.00 26 5 16.13 HDC 0 genome.wustl.edu 37 15 50540459 50540459 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 50540459 50540459 G T SNP HDC ENST00000267845 human ensembl 74_37 -1 known missense c.1123 p.Q375K 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 21 0 0.00 21 2 8.70 HDLBP 0 genome.wustl.edu 37 2 242195709 242195709 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 242195709 242195709 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.763 p.R255C 0.966 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 HDLBP HGNC ENSG00000115677 tier1 - - 53 0 0.00 42 5 10.64 HDX 0 genome.wustl.edu 37 X 83616578 83616578 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 83616578 83616578 G T SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.1348 p.L450I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 tier1 - - 78 0 0.00 34 12 26.09 HEATR2 0 genome.wustl.edu 37 7 769437 769437 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 769437 769437 G A SNP HEATR2 ENST00000297440 human ensembl 74_37 +1 known missense c.733 p.D245N 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 71 0 0.00 44 4 8.33 HECW1 0 genome.wustl.edu 37 7 43484922 43484922 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 43484922 43484922 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.2151 p.T717 0.986 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 35 0 0.00 24 11 31.43 HELQ 0 genome.wustl.edu 37 4 84374915 84374915 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 84374915 84374915 T C SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.481 p.T161A 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 tier1 - - 57 0 0.00 82 11 11.83 HELZ2 0 genome.wustl.edu 37 20 62194213 62194213 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 62194213 62194213 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.5962 p.R1988C 0.003 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 34 0 0.00 32 6 15.79 HERC2P2 0 genome.wustl.edu 37 15 23330372 23330372 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 23330372 23330372 A G SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors HERC2P2 HGNC ENSG00000140181 tier1 - - 184 0 0.00 152 37 19.58 HERC4 0 genome.wustl.edu 37 10 69716603 69716604 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 69716603 69716604 AA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 tier1 33 0 0.00 33 5 13.16 HEY1 0 genome.wustl.edu 37 8 80677294 80677294 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 80677294 80677294 A - DEL HEY1 ENST00000435063 human ensembl 74_37 -1 known rna NULL NULL 0.976 - - - no_errors HEY1 HGNC ENSG00000164683 tier1 10 0 0.00 3 5 62.50 HEYL 0 genome.wustl.edu 37 1 40092236 40092236 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 40092236 40092236 C T SNP HEYL ENST00000372852 human ensembl 74_37 -1 known silent c.930 p.A310 0.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEYL HGNC ENSG00000163909 tier1 - - 82 0 0.00 57 21 26.92 HFM1 0 genome.wustl.edu 37 1 91794442 91794442 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 91794442 91794442 G T SNP HFM1 ENST00000497520 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 10 0 0.00 11 6 35.29 HHIPL1 0 genome.wustl.edu 37 14 100118894 100118894 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 100118894 100118894 G A SNP HHIPL1 ENST00000330710 human ensembl 74_37 +1 known missense c.589 p.V197M 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors HHIPL1 HGNC ENSG00000182218 tier1 rs145984890 - 49 0 0.00 23 13 36.11 HIATL1 0 genome.wustl.edu 37 9 97203357 97203357 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 97203357 97203357 C T SNP HIATL1 ENST00000375344 human ensembl 74_37 +1 known silent c.486 p.H162 0.524 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIATL1 HGNC ENSG00000148110 tier1 - - 60 0 0.00 39 18 31.58 HIPK3 0 genome.wustl.edu 37 11 33308839 33308839 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 33308839 33308839 C A SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known silent c.879 p.P293 0.930 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 tier1 - - 32 0 0.00 25 4 13.79 HJURP 0 genome.wustl.edu 37 2 234750242 234750242 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 234750242 234750242 G A SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.1184 p.T395I 0.000 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 tier1 - - 35 0 0.00 33 7 17.50 HLA-C 0 genome.wustl.edu 37 6 31239045 31239045 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 31239045 31239045 A G SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known missense c.424 p.Y142H 0.882 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 tier1 - - 78 0 0.00 44 9 16.98 HLA-C 0 genome.wustl.edu 37 6 31239628 31239628 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 31239628 31239628 A G SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known missense c.91 p.Y31H 0.622 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 tier1 - - 89 0 0.00 81 13 13.83 HMCN1 0 genome.wustl.edu 37 1 185891603 185891604 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 185891603 185891604 - A INS HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_ins c.993_994 p.T333fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,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_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 61 0 0.00 37 9 19.57 HMCN1 0 genome.wustl.edu 37 1 185951461 185951461 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 185951461 185951461 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.2730 p.P910 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,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_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 69 0 0.00 73 14 16.09 HMGB1P5 0 genome.wustl.edu 37 3 22424293 22424293 + RNA SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 22424293 22424293 C G SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors HMGB1P5 HGNC ENSG00000132967 16 0 0.00 22 3 12.00 HMGB3 0 genome.wustl.edu 37 X 150155677 150155677 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 150155677 150155677 G A SNP HMGB3 ENST00000325307 human ensembl 74_37 +1 known missense c.367 p.V123M 0.998 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB3 HGNC ENSG00000029993 tier1 - - 84 0 0.00 17 21 55.26 HMGN3 0 genome.wustl.edu 37 6 79912054 79912054 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 79912054 79912054 T C SNP HMGN3 ENST00000344726 human ensembl 74_37 -1 known missense c.200 p.K67R 1.000 pfam_HMGN_fam,smart_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN3 HGNC ENSG00000118418 tier1 - - 51 0 0.00 37 6 13.95 HMHA1 0 genome.wustl.edu 37 19 1073742 1073742 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 1073742 1073742 C T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.720 p.S240 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 87 0 0.00 61 26 29.89 HNF1A 0 genome.wustl.edu 37 12 121432118 121432118 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 121432118 121432118 C - DEL HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_del c.865 p.P291fs 1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 37 0 0.00 30 5 14.29 HNRNPD 0 genome.wustl.edu 37 4 83276431 83276431 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 83276431 83276431 A - DEL HNRNPD ENST00000508119 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HNRNPD HGNC ENSG00000138668 tier1 79 0 0.00 41 7 14.58 HNRNPL 0 genome.wustl.edu 37 19 39330959 39330959 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 39330959 39330959 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 tier1 54 0 0.00 40 13 24.53 HOMEZ 0 genome.wustl.edu 37 14 23746015 23746018 + Frame_Shift_Del DEL AAAG AAAG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 23746015 23746018 AAAG - DEL HOMEZ ENST00000431326 human ensembl 74_37 -1 known frame_shift_del c.428_425 p.S142fs 0.996:0.996:0.999:1.000 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 tier1 45 0 0.00 35 10 22.22 HOMEZ 0 genome.wustl.edu 37 14 23746069 23746069 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 23746069 23746069 C T SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known missense c.374 p.R125Q 1.000 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 tier1 - - 61 0 0.00 37 16 30.19 HOPX 0 genome.wustl.edu 37 4 57522048 57522048 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 57522048 57522048 G T SNP HOPX ENST00000554144 human ensembl 74_37 -1 known missense c.173 p.A58E 0.966 superfamily_Homeodomain-like superfamily_Homeodomain-like - no_errors HOPX HGNC ENSG00000171476 tier1 - - 53 0 0.00 43 4 8.33 HOXA9 0 genome.wustl.edu 37 7 27202966 27202966 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 27202966 27202966 C - DEL HOXA9 ENST00000487384 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors HOXA9 HGNC ENSG00000078399 tier1 55 0 0.00 29 14 32.56 HOXA9 0 genome.wustl.edu 37 7 27204776 27204776 + Missense_Mutation SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 27204776 27204776 C G SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known missense c.301 p.A101P 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 33 0 0.00 31 4 11.43 HOXC9 0 genome.wustl.edu 37 12 54394172 54394172 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 54394172 54394172 C T SNP HOXC9 ENST00000303450 human ensembl 74_37 +1 known missense c.200 p.A67V 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC9 HGNC ENSG00000180806 tier1 - - 55 0 0.00 37 7 15.91 HOXD8 0 genome.wustl.edu 37 2 176996151 176996151 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 176996151 176996151 C T SNP HOXD8 ENST00000313173 human ensembl 74_37 +1 known silent c.684 p.I228 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 tier1 - - 40 0 0.00 48 9 15.79 HPS6 0 genome.wustl.edu 37 10 103826900 103826900 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 103826900 103826900 C - DEL HPS6 ENST00000299238 human ensembl 74_37 +1 known frame_shift_del c.1669 p.N559fs 0.013 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 tier1 84 0 0.00 42 16 27.59 HPX 0 genome.wustl.edu 37 11 6452975 6452975 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 6452975 6452975 G A SNP HPX ENST00000265983 human ensembl 74_37 -1 known missense c.1025 p.P342L 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 tier1 - - 43 0 0.00 26 8 23.53 HR 0 genome.wustl.edu 37 8 21984704 21984704 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 21984704 21984704 G A SNP HR ENST00000381418 human ensembl 74_37 -1 known silent c.1251 p.P417 0.192 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 tier1 rs146491425 - 41 0 0.00 54 8 12.90 HRC 0 genome.wustl.edu 37 19 49657665 49657665 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 49657665 49657665 C A SNP HRC ENST00000252825 human ensembl 74_37 -1 known missense c.830 p.G277V 0.000 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 tier1 - - 59 0 0.00 40 20 33.33 HS3ST4 0 genome.wustl.edu 37 16 25703777 25703777 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 25703777 25703777 G A SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known silent c.39 p.P13 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 19 0 0.00 11 3 21.43 HS6ST2 0 genome.wustl.edu 37 X 131762903 131762903 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 131762903 131762903 C T SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known missense c.1286 p.R429H 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 tier1 - - 78 0 0.00 38 11 22.45 HS6ST2 0 genome.wustl.edu 37 X 132092616 132092616 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 132092616 132092616 C T SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known silent c.15 p.A5 1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 tier1 - - 43 0 0.00 14 5 26.32 HSF1 0 genome.wustl.edu 37 8 145533057 145533057 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 145533057 145533057 A G SNP HSF1 ENST00000528199 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HSF1 HGNC ENSG00000185122 tier1 - - 47 0 0.00 40 23 36.51 HSP90AA1 0 genome.wustl.edu 37 14 102550810 102550810 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 102550810 102550810 T - DEL HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known frame_shift_del c.1439 p.K480fs 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 tier1 62 0 0.00 27 12 30.77 HSP90AA4P 0 genome.wustl.edu 37 4 190395839 190395839 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 190395839 190395839 A - DEL HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 tier1 59 0 0.00 46 12 20.69 HSPA12B 0 genome.wustl.edu 37 20 3731495 3731496 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 3731495 3731496 - T INS HSPA12B ENST00000254963 human ensembl 74_37 +1 known frame_shift_ins c.1346_1347 p.C450fs 0.999:0.346 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 tier1 17 0 0.00 14 10 41.67 HSPA9 0 genome.wustl.edu 37 5 137909470 137909471 + In_Frame_Ins INS - - GTT TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 137909470 137909471 - GTT INS HSPA9 ENST00000297185 human ensembl 74_37 -1 known in_frame_ins c.210_209 p.M70in_frame_insIT 1.000:1.000 pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 tier1 33 0 0.00 38 6 13.64 HSPB7 0 genome.wustl.edu 37 1 16345792 16345792 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 16345792 16345792 C T SNP HSPB7 ENST00000375718 human ensembl 74_37 -1 novel missense c.173 p.S58N 0.003 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 46 0 0.00 42 5 10.64 HSPD1P6 0 genome.wustl.edu 37 3 36810381 36810382 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 36810381 36810382 TT - DEL HSPD1P6 ENST00000424886 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.025 - - - no_errors HSPD1P6 HGNC ENSG00000230067 tier1 9 0 0.00 3 7 70.00 HSPG2 0 genome.wustl.edu 37 1 22161279 22161279 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 22161279 22161279 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.10613 p.G3538D 0.937 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 42 0 0.00 29 5 14.71 HSPG2 0 genome.wustl.edu 37 1 22205107 22205107 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 22205107 22205107 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.2521 p.A841T 0.910 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 108 0 0.00 60 35 36.84 HSPH1 0 genome.wustl.edu 37 13 31729669 31729670 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 31729669 31729670 - T INS HSPH1 ENST00000445273 human ensembl 74_37 -1 known frame_shift_ins c.294_293 p.N98fs 1.000:1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 tier1 42 0 0.00 32 10 23.81 HTRA2 0 genome.wustl.edu 37 2 74757418 74757418 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 74757418 74757418 C A SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known silent c.285 p.A95 0.006 NULL pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 tier1 - - 55 0 0.00 44 7 13.73 HUWE1 0 genome.wustl.edu 37 X 53570860 53570860 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 53570860 53570860 G A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.11321 p.A3774V 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_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 tier1 - - 27 0 0.00 18 5 21.74 HUWE1 0 genome.wustl.edu 37 X 53600796 53600796 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 53600796 53600796 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.6226 p.A2076T 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_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 88 0 0.00 71 5 6.49 IARS 0 genome.wustl.edu 37 9 95003101 95003101 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 95003101 95003101 A - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors IARS HGNC ENSG00000196305 tier1 83 0 0.00 50 9 15.25 IARS 0 genome.wustl.edu 37 9 95009783 95009783 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 95009783 95009783 G T SNP IARS ENST00000375643 human ensembl 74_37 -1 known silent c.2667 p.G889 0.913 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 tier1 - - 48 0 0.00 46 9 16.36 IBTK 0 genome.wustl.edu 37 6 82935221 82935221 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 82935221 82935221 C A SNP IBTK ENST00000306270 human ensembl 74_37 -1 known silent c.798 p.P266 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 tier1 - - 75 0 0.00 59 13 18.06 IDI2 0 genome.wustl.edu 37 10 1070564 1070564 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 1070564 1070564 C T SNP IDI2 ENST00000277517 human ensembl 74_37 -1 known missense c.100 p.D34N 0.946 superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC ENSG00000148377 tier1 - - 58 0 0.00 36 5 12.20 IFI35 0 genome.wustl.edu 37 17 41158875 41158875 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 41158875 41158875 G - DEL IFI35 ENST00000536969 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IFI35 HGNC ENSG00000068079 tier1 34 0 0.00 29 9 23.68 IFNG 0 genome.wustl.edu 37 12 68553363 68553363 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 68553363 68553363 C A SNP IFNG ENST00000229135 human ensembl 74_37 -1 known missense c.33 p.Q11H 0.730 pirsf_Interferon_gamma pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma - no_errors IFNG HGNC ENSG00000111537 tier1 - - 76 0 0.00 32 23 41.82 IGFALS 0 genome.wustl.edu 37 16 1840901 1840901 + Silent SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 1840901 1840901 C G SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known silent c.1632 p.G544 0.026 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 tier1 - - 145 0 0.00 105 22 17.32 IGSF10 0 genome.wustl.edu 37 3 151155309 151155310 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 151155309 151155310 - T INS IGSF10 ENST00000282466 human ensembl 74_37 -1 known frame_shift_ins c.7040_7039 p.I2347fs 0.004:0.002 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,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,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 9 0 0.00 15 5 25.00 IGSF9B 0 genome.wustl.edu 37 11 133790828 133790828 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 133790828 133790828 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.2792 p.R931Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 tier1 - - 83 0 0.00 54 13 19.40 IGSF9B 0 genome.wustl.edu 37 11 133802093 133802093 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 133802093 133802093 A G SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.983 p.L328P 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 17 0 0.00 18 3 14.29 IKZF1 0 genome.wustl.edu 37 7 50455091 50455091 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 50455091 50455091 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.638 p.R213Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 tier1 - - 55 0 0.00 29 9 23.68 IL17B 0 genome.wustl.edu 37 5 148754055 148754055 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 148754055 148754055 G A SNP IL17B ENST00000261796 human ensembl 74_37 -1 known silent c.420 p.S140 1.000 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17B HGNC ENSG00000127743 tier1 - - 37 0 0.00 23 9 28.12 IL18R1 0 genome.wustl.edu 37 2 102988513 102988513 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 102988513 102988513 T A SNP IL18R1 ENST00000233957 human ensembl 74_37 +1 known missense c.403 p.F135I 0.000 smart_Ig_sub pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL18R1 HGNC ENSG00000115604 tier1 - - 66 0 0.00 35 15 29.41 IL6 0 genome.wustl.edu 37 7 22767197 22767197 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 22767197 22767197 C T SNP IL6 ENST00000420258 human ensembl 74_37 +1 known nonsense c.316 p.R106* 0.000 superfamily_4_helix_cytokine-like_core pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,prints_IL-6,prints_IL-6/IL-23/GCSF/MGF - no_errors IL6 HGNC ENSG00000136244 tier1 - - 67 0 0.00 41 19 31.67 ILF3 0 genome.wustl.edu 37 19 10789292 10789292 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10789292 10789292 C T SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.563 p.T188M 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 tier1 - - 41 0 0.00 19 15 44.12 IMMP2L 0 genome.wustl.edu 37 7 110303715 110303715 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 110303715 110303715 C T SNP IMMP2L ENST00000331762 human ensembl 74_37 -1 known silent c.471 p.Q157 0.998 superfamily_Peptidase_S24_S26A/B/C pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 tier1 - - 48 0 0.00 59 4 6.35 INE1 0 genome.wustl.edu 37 X 47065253 47065253 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 47065253 47065253 A - DEL INE1 ENST00000456273 human ensembl 74_37 +1 known rna NULL NULL 0.098 - - - no_errors INE1 HGNC ENSG00000224975 tier1 60 0 0.00 41 9 18.00 ING3 0 genome.wustl.edu 37 7 120606729 120606729 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 120606729 120606729 T C SNP ING3 ENST00000315870 human ensembl 74_37 +1 known silent c.414 p.A138 0.995 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING3 HGNC ENSG00000071243 tier1 - - 88 0 0.00 71 7 8.97 INO80E 0 genome.wustl.edu 37 16 30016653 30016653 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 30016653 30016653 C - DEL INO80E ENST00000563197 human ensembl 74_37 +1 known frame_shift_del c.625 p.T212fs 1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 tier1 29 0 0.00 16 13 44.83 INPP4B 0 genome.wustl.edu 37 4 143067033 143067033 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 143067033 143067033 C A SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.1680 p.K560N 0.327 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 tier1 - - 68 0 0.00 80 12 13.04 INPP5F 0 genome.wustl.edu 37 10 121556338 121556339 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 121556338 121556339 - C INS INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_ins c.781_782 p.Q264fs 1.000:1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 tier1 69 0 0.00 44 21 32.31 INSRR 0 genome.wustl.edu 37 1 156814636 156814636 + Splice_Site SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156814636 156814636 C A SNP INSRR ENST00000368195 human ensembl 74_37 -1 known splice_site c.2438-1 e13-1 1.000 - - - no_errors INSRR HGNC ENSG00000027644 tier1 - - 22 0 0.00 8 3 27.27 INSRR 0 genome.wustl.edu 37 1 156814956 156814956 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156814956 156814956 G A SNP INSRR ENST00000368195 human ensembl 74_37 -1 known silent c.2349 p.Y783 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 tier1 - - 89 0 0.00 53 25 32.05 INTS1 0 genome.wustl.edu 37 7 1533447 1533447 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 1533447 1533447 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.2395 p.D799N 0.997 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 - - 98 0 0.00 70 13 15.66 INTS4L2 0 genome.wustl.edu 37 7 65171357 65171357 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 65171357 65171357 G A SNP INTS4L2 ENST00000430126 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors INTS4L2 HGNC ENSG00000232270 tier1 - - 48 0 0.00 29 20 40.82 INTS9 0 genome.wustl.edu 37 8 28628531 28628531 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 28628531 28628531 G A SNP INTS9 ENST00000521022 human ensembl 74_37 -1 known silent c.1630 p.L544 1.000 NULL pfam_Beta_Casp - no_errors INTS9 HGNC ENSG00000104299 tier1 - - 50 0 0.00 43 9 16.98 INVS 0 genome.wustl.edu 37 9 102992043 102992043 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 102992043 102992043 G T SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.549 p.K183N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 tier1 - - 31 0 0.00 30 6 16.67 IP6K3 0 genome.wustl.edu 37 6 33696073 33696073 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 33696073 33696073 G T SNP IP6K3 ENST00000293756 human ensembl 74_37 -1 known silent c.204 p.T68 0.151 NULL pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 31 0 0.00 23 2 8.00 IQGAP2 0 genome.wustl.edu 37 5 75967685 75967685 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 75967685 75967685 G A SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.2945 p.R982H 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 tier1 - - 58 0 0.00 37 12 24.49 IQGAP3 0 genome.wustl.edu 37 1 156509223 156509223 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156509223 156509223 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.2999 p.R1000H 0.997 superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 tier1 rs111494634 - 38 0 0.00 24 4 14.29 IRAK4 0 genome.wustl.edu 37 12 44180243 44180243 + Silent SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 44180243 44180243 T A SNP IRAK4 ENST00000448290 human ensembl 74_37 +1 known silent c.1230 p.I410 0.968 pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_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_dom pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IRAK4 HGNC ENSG00000198001 tier1 - - 24 0 0.00 28 6 17.65 IREB2 0 genome.wustl.edu 37 15 78762887 78762887 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 78762887 78762887 T C SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known silent c.643 p.L215 1.000 superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 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/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 tier1 - - 82 0 0.00 72 7 8.86 IRF4 0 genome.wustl.edu 37 6 401645 401645 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 401645 401645 G A SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.967 p.G323R 1.000 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 IRF4 HGNC ENSG00000137265 tier1 - - 47 0 0.00 42 4 8.70 IRS4 0 genome.wustl.edu 37 X 107977803 107977803 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 107977803 107977803 C - DEL IRS4 ENST00000372129 human ensembl 74_37 -1 known frame_shift_del c.1772 p.G591fs 0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 49 0 0.00 22 3 12.00 IRX4 0 genome.wustl.edu 37 5 1878502 1878502 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 1878502 1878502 C T SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known missense c.1141 p.A381T 0.771 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 tier1 - - 28 0 0.00 19 5 20.00 ISG20L2 0 genome.wustl.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156694023 156694023 G - DEL ISG20L2 ENST00000313146 human ensembl 74_37 -1 known frame_shift_del c.865 p.L289fs 0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 tier1 82 0 0.00 39 23 37.10 ITFG2 0 genome.wustl.edu 37 12 2932038 2932038 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 2932038 2932038 C T SNP ITFG2 ENST00000228799 human ensembl 74_37 +1 known missense c.1027 p.R343C 1.000 superfamily_WD40_repeat_dom pfam_FG-GAP,superfamily_WD40_repeat_dom - no_errors ITFG2 HGNC ENSG00000111203 tier1 - - 64 0 0.00 49 4 7.27 ITGA11 0 genome.wustl.edu 37 15 68695277 68695277 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 68695277 68695277 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known silent c.144 p.H48 0.996 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 tier1 - - 49 0 0.00 41 7 14.58 ITGA6 0 genome.wustl.edu 37 2 173368930 173368931 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 173368930 173368931 - A INS ITGA6 ENST00000264106 human ensembl 74_37 +1 known frame_shift_ins c.3343_3344 p.Q1118fs 1.000:1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 tier1 32 0 0.00 31 6 16.22 ITGB2 0 genome.wustl.edu 37 21 46330514 46330514 + Splice_Site DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 46330514 46330514 C - DEL ITGB2 ENST00000479849 human ensembl 74_37 -1 putative splice_site_del c.NULL NULL 0.001 - - - no_errors ITGB2 HGNC ENSG00000160255 tier1 128 0 0.00 83 34 29.06 ITGB5 0 genome.wustl.edu 37 3 124567295 124567295 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 124567295 124567295 G A SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known missense c.472 p.R158W 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 38 0 0.00 34 2 5.56 ITGBL1 0 genome.wustl.edu 37 13 102220154 102220154 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 102220154 102220154 C T SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known nonsense c.421 p.Q141* 1.000 NULL pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 tier1 - - 58 0 0.00 45 10 18.18 ITIH2 0 genome.wustl.edu 37 10 7763614 7763614 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 7763614 7763614 G A SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known silent c.741 p.A247 0.135 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 tier1 - - 51 0 0.00 35 9 20.45 ITIH4 0 genome.wustl.edu 37 3 52853933 52853933 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 52853933 52853933 C - DEL ITIH4 ENST00000434759 human ensembl 74_37 -1 known frame_shift_del c.1671 p.R558fs 0.000 NULL pfam_VWF_A,pfam_VIT,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 tier1 62 0 0.00 28 10 26.32 ITLN1 0 genome.wustl.edu 37 1 160849201 160849202 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 160849201 160849202 - C INS ITLN1 ENST00000326245 human ensembl 74_37 -1 known frame_shift_ins c.689_688 p.E230fs 0.193:0.194 superfamily_Fibrinogen_a/b/g_C_dom superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN1 HGNC ENSG00000179914 tier1 57 0 0.00 41 12 22.64 ITPK1 0 genome.wustl.edu 37 14 93429193 93429193 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 93429193 93429193 G A SNP ITPK1 ENST00000267615 human ensembl 74_37 -1 known silent c.366 p.D122 1.000 pfam_Inositol_tetrakis-P_1-kinase pfam_Inositol_tetrakis-P_1-kinase - no_errors ITPK1 HGNC ENSG00000100605 tier1 - - 45 0 0.00 30 4 11.76 ITPK1-AS1 0 genome.wustl.edu 37 14 93534031 93534031 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 93534031 93534031 T - DEL ITPK1-AS1 ENST00000553639 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ITPK1-AS1 HGNC ENSG00000258730 tier1 19 0 0.00 8 5 38.46 ITPR1 0 genome.wustl.edu 37 3 4829647 4829647 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 4829647 4829647 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.6587 p.R2196Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 40 0 0.00 25 8 24.24 ITPR3 0 genome.wustl.edu 37 6 33651920 33651920 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 33651920 33651920 T C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.4912 p.C1638R 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 tier1 - - 78 0 0.00 50 5 9.09 IVL 0 genome.wustl.edu 37 1 152882397 152882397 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 152882397 152882397 C - DEL IVL ENST00000368764 human ensembl 74_37 +1 known frame_shift_del c.124 p.P43fs 0.031 pfam_Involucrin_N pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 47 0 0.00 35 14 28.57 JAKMIP2 0 genome.wustl.edu 37 5 147023707 147023707 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 147023707 147023707 G A SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.1138 p.L380F 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 62 0 0.00 54 12 18.18 JARID2 0 genome.wustl.edu 37 6 15513159 15513159 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 15513159 15513159 G A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.3149 p.R1050H 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 59 0 0.00 45 10 18.18 JPH3 0 genome.wustl.edu 37 16 87730402 87730402 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 87730402 87730402 C T SNP JPH3 ENST00000537256 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors JPH3 HGNC ENSG00000154118 tier1 - - 76 0 0.00 46 9 16.36 JUP 0 genome.wustl.edu 37 17 39925671 39925671 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 39925671 39925671 G A SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.467 p.P156L 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 tier1 - - 68 0 0.00 60 16 21.05 KALRN 0 genome.wustl.edu 37 3 124117635 124117635 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 124117635 124117635 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known nonsense c.2257 p.Q753* 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 48 0 0.00 43 7 14.00 KANK1 0 genome.wustl.edu 37 9 738311 738311 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 738311 738311 C T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.3360 p.H1120 0.983 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 74 0 0.00 39 3 7.14 KANK4 0 genome.wustl.edu 37 1 62739570 62739570 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 62739570 62739570 G A SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known silent c.1206 p.N402 0.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 tier1 rs142146326 - 82 0 0.00 48 5 9.43 KAT2A 0 genome.wustl.edu 37 17 40265752 40265752 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 40265752 40265752 G - DEL KAT2A ENST00000225916 human ensembl 74_37 -1 known frame_shift_del c.2429 p.P810fs 1.000 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 tier1 85 0 0.00 61 13 17.57 KAT6A 0 genome.wustl.edu 37 8 41791588 41791588 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 41791588 41791588 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.4150 p.V1384M 0.568 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 tier1 - - 24 0 0.00 32 5 13.51 KAZALD1 0 genome.wustl.edu 37 10 102826316 102826316 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 102826316 102826316 G T SNP KAZALD1 ENST00000608812 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KAZALD1 HGNC ENSG00000107821 tier1 - - 71 0 0.00 51 15 22.73 KBTBD3 0 genome.wustl.edu 37 11 105923925 105923925 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 105923925 105923925 A - DEL KBTBD3 ENST00000526793 human ensembl 74_37 -1 known frame_shift_del c.1491 p.H498fs 1.000 pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 tier1 34 0 0.00 41 6 12.77 KCNA4 0 genome.wustl.edu 37 11 30033718 30033718 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 30033718 30033718 G A SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.508 p.R170C 1.000 NULL pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 tier1 - - 28 0 0.00 13 3 18.75 KCNAB2 0 genome.wustl.edu 37 1 6150469 6150469 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 6150469 6150469 C T SNP KCNAB2 ENST00000378083 human ensembl 74_37 +1 known nonsense c.535 p.R179* 0.999 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 tier1 rs139249498 - 80 0 0.00 57 9 13.64 KCNC1 0 genome.wustl.edu 37 11 17794026 17794026 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 17794026 17794026 G A SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known missense c.1385 p.R462Q 1.000 prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 tier1 rs200123434 - 46 0 0.00 31 8 20.51 KCNH1 0 genome.wustl.edu 37 1 211192294 211192294 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 211192294 211192294 C T SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.863 p.R288H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 58 0 0.00 55 3 5.17 KCNH3 0 genome.wustl.edu 37 12 49943287 49943287 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 49943287 49943287 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1532 p.R511H 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 53 0 0.00 35 16 31.37 KCNJ5 0 genome.wustl.edu 37 11 128781288 128781288 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 128781288 128781288 G A SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known silent c.120 p.T40 0.163 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 tier1 - - 50 0 0.00 38 9 19.15 KCNK13 0 genome.wustl.edu 37 14 90650656 90650657 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 90650656 90650657 - G INS KCNK13 ENST00000282146 human ensembl 74_37 +1 known frame_shift_ins c.536_537 p.Q181fs 0.001:0.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 tier1 28 0 0.00 23 11 32.35 KCNN3 0 genome.wustl.edu 37 1 154842106 154842106 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 154842106 154842106 G - DEL KCNN3 ENST00000271915 human ensembl 74_37 -1 novel frame_shift_del c.335 p.P112fs 0.918 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 tier1 122 0 0.00 93 12 11.43 KCNN3 0 genome.wustl.edu 37 1 154744782 154744782 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 154744782 154744782 A G SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel missense c.1117 p.C373R 1.000 pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 18 0 0.00 10 3 23.08 KCNQ1 0 genome.wustl.edu 37 11 2610023 2610023 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 2610023 2610023 G A SNP KCNQ1 ENST00000155840 human ensembl 74_37 +1 known silent c.1332 p.T444 0.004 prints_K_chnl_volt-dep_KCQN1 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 tier1 rs144985256 - 75 0 0.00 68 7 9.33 KCNQ1OT1 0 genome.wustl.edu 37 11 2683129 2683129 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 2683129 2683129 C T SNP KCNQ1OT1 ENST00000597346 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 tier1 - - 40 0 0.00 25 8 24.24 KCNQ4 0 genome.wustl.edu 37 1 41298775 41298775 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 41298775 41298775 C T SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known missense c.1603 p.R535C 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 37 0 0.00 32 6 15.79 KCNS1 0 genome.wustl.edu 37 20 43723597 43723597 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 43723597 43723597 T C SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known missense c.1495 p.T499A 0.948 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 tier1 - - 42 0 0.00 28 8 22.22 KCNS3 0 genome.wustl.edu 37 2 18112633 18112633 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 18112633 18112633 C T SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.358 p.R120C 0.995 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 34 0 0.00 22 2 8.33 KCNU1 0 genome.wustl.edu 37 8 36768606 36768608 + In_Frame_Del DEL CTC CTC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 36768606 36768608 CTC - DEL KCNU1 ENST00000399881 human ensembl 74_37 +1 known in_frame_del c.2490_2492 p.S833in_frame_del 0.000:0.000:0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 64 0 0.00 58 9 13.43 KCTD8 0 genome.wustl.edu 37 4 44449818 44449818 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 44449818 44449818 G A SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known silent c.723 p.I241 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 tier1 - - 26 0 0.00 15 4 21.05 KCTD8 0 genome.wustl.edu 37 4 44450294 44450294 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 44450294 44450294 C T SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.247 p.A83T 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 tier1 - - 16 0 0.00 10 6 37.50 KDM3A 0 genome.wustl.edu 37 2 86684136 86684136 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 86684136 86684136 G A SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.785 p.R262H 0.998 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 tier1 - - 63 0 0.00 55 11 16.67 KDM6B 0 genome.wustl.edu 37 17 7751858 7751859 + In_Frame_Ins INS - - CAC TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7751858 7751859 - CAC INS KDM6B ENST00000254846 human ensembl 74_37 +1 known in_frame_ins c.2252_2253 p.755in_frame_insT 0.000:0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 tier1 36 0 0.00 14 3 17.65 KEAP1 0 genome.wustl.edu 37 19 10610255 10610255 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10610255 10610255 A G SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.455 p.V152A 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,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 KEAP1 HGNC ENSG00000079999 16 0 0.00 14 3 16.67 KHDRBS1 0 genome.wustl.edu 37 1 32508537 32508537 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 32508537 32508537 A - DEL KHDRBS1 ENST00000307714 human ensembl 74_37 +1 known rna NULL NULL 0.903 - - - no_errors KHDRBS1 HGNC ENSG00000121774 tier1 36 0 0.00 22 10 31.25 KHDRBS1 0 genome.wustl.edu 37 1 32508606 32508606 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 32508606 32508606 G T SNP KHDRBS1 ENST00000307714 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KHDRBS1 HGNC ENSG00000121774 tier1 - - 51 0 0.00 38 7 15.56 KHDRBS1 0 genome.wustl.edu 37 1 32509353 32509353 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 32509353 32509353 G A SNP KHDRBS1 ENST00000307714 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KHDRBS1 HGNC ENSG00000121774 tier1 - - 44 0 0.00 33 6 15.38 KHDRBS3 0 genome.wustl.edu 37 8 136659489 136659492 + RNA DEL AAAA AAAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 136659489 136659492 AAAA - DEL KHDRBS3 ENST00000518728 human ensembl 74_37 +1 putative rna NULL NULL 1.000:1.000:1.000:0.910 - - - no_errors KHDRBS3 HGNC ENSG00000131773 tier1 39 0 0.00 36 16 30.77 KIAA0020 0 genome.wustl.edu 37 9 2834090 2834090 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 2834090 2834090 A G SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known silent c.381 p.S127 0.983 NULL pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 tier1 - - 91 0 0.00 56 12 17.65 KIAA0368 0 genome.wustl.edu 37 9 114131441 114131441 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 114131441 114131441 T C SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.5521 p.S1841G 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 tier1 - - 76 0 0.00 56 8 12.50 KIAA0930 0 genome.wustl.edu 37 22 45593025 45593025 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 45593025 45593025 C T SNP KIAA0930 ENST00000474515 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors KIAA0930 HGNC ENSG00000100364 tier1 - - 60 0 0.00 47 8 14.55 KIAA0947 0 genome.wustl.edu 37 5 5486837 5486837 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 5486837 5486837 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.6524 p.R2175H 0.994 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 79 0 0.00 60 21 25.93 KIAA1107 0 genome.wustl.edu 37 1 92642744 92642744 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 92642744 92642744 C T SNP KIAA1107 ENST00000409154 human ensembl 74_37 +1 known missense c.845 p.A282V 0.005 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 tier1 - - 23 0 0.00 28 6 17.65 KIAA1109 0 genome.wustl.edu 37 4 123178534 123178534 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 123178534 123178534 C A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.6503 p.P2168H 0.999 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 48 0 0.00 50 9 15.25 KIAA1211 0 genome.wustl.edu 37 4 57181235 57181235 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 57181235 57181235 C T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.1567 p.R523W 0.072 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 45 0 0.00 27 21 43.75 KIAA1211 0 genome.wustl.edu 37 4 57181940 57181941 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 57181940 57181941 - C INS KIAA1211 ENST00000504228 human ensembl 74_37 +1 known frame_shift_ins c.2272_2273 p.Q760fs 0.000:0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 53 0 0.00 37 6 13.95 KIAA1279 0 genome.wustl.edu 37 10 70775971 70775972 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 70775971 70775972 - A INS KIAA1279 ENST00000361983 human ensembl 74_37 +1 known frame_shift_ins c.1665_1666 p.I556fs 1.000:1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 tier1 89 0 0.00 44 15 25.42 KIAA1324L 0 genome.wustl.edu 37 7 86571386 86571386 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 86571386 86571386 G A SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.689 p.T230I 0.995 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 tier1 - - 58 0 0.00 40 6 13.04 KIAA1549 0 genome.wustl.edu 37 7 138665892 138665892 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 138665892 138665892 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.124 p.P42S 0.808 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 10 0 0.00 6 5 45.45 KIAA1644 0 genome.wustl.edu 37 22 44692715 44692715 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 44692715 44692715 G A SNP KIAA1644 ENST00000381176 human ensembl 74_37 -1 putative missense c.118 p.R40C 1.000 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 tier1 - - 45 0 0.00 39 8 17.02 KIAA1731 0 genome.wustl.edu 37 11 93420943 93420944 + Frame_Shift_Del DEL TG TG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 93420943 93420944 TG - DEL KIAA1731 ENST00000411936 human ensembl 74_37 +1 known frame_shift_del c.1248_1249 p.V417fs 0.000:0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 85 0 0.00 60 9 13.04 KIAA1919 0 genome.wustl.edu 37 6 111587126 111587126 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 111587126 111587126 C T SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.361 p.H121Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 - - 36 0 0.00 21 9 30.00 KIAA1984-AS1 0 genome.wustl.edu 37 9 139701355 139701355 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 139701355 139701355 G A SNP KIAA1984-AS1 ENST00000414656 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1984-AS1 HGNC ENSG00000228544 tier1 - - 39 0 0.00 25 5 16.67 KIAA2018 0 genome.wustl.edu 37 3 113376110 113376111 + In_Frame_Ins INS - - TGC TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 113376110 113376111 - TGC INS KIAA2018 ENST00000316407 human ensembl 74_37 -1 known in_frame_ins c.4419_4418 p.1477in_frame_insQ 0.543:0.994 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 32 0 0.00 30 7 18.92 KIDINS220 0 genome.wustl.edu 37 2 8934033 8934033 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 8934033 8934033 G A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known nonsense c.1183 p.R395* 0.059 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 66 0 0.00 63 4 5.97 KIF13A 0 genome.wustl.edu 37 6 17788023 17788023 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 17788023 17788023 T - DEL KIF13A ENST00000259711 human ensembl 74_37 -1 known frame_shift_del c.3345 p.V1116fs 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 tier1 83 0 0.00 84 17 16.83 KIF13B 0 genome.wustl.edu 37 8 28974483 28974483 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 28974483 28974483 G A SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.3702 p.C1234 0.785 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 27 0 0.00 39 3 7.14 KIF14 0 genome.wustl.edu 37 1 200524515 200524515 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 200524515 200524515 G A SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.4421 p.S1474L 0.995 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 tier1 - - 93 0 0.00 67 24 26.37 KIF1A 0 genome.wustl.edu 37 2 241725901 241725901 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 241725901 241725901 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known silent c.459 p.R153 0.001 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 rs201515208 - 50 0 0.00 32 5 13.51 KIF27 0 genome.wustl.edu 37 9 86465154 86465155 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 86465154 86465155 - T INS KIF27 ENST00000297814 human ensembl 74_37 -1 known frame_shift_ins c.3416_3415 p.M1139fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 tier1 116 0 0.00 90 10 10.00 KIFC1 0 genome.wustl.edu 37 6 33374231 33374231 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 33374231 33374231 C T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known silent c.1795 p.L599 0.999 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 tier1 - - 43 0 0.00 44 16 26.67 KITLG 0 genome.wustl.edu 37 12 88890764 88890764 + RNA SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 88890764 88890764 T A SNP KITLG ENST00000378535 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KITLG HGNC ENSG00000049130 tier1 - - 51 0 0.00 42 8 16.00 KLF10 0 genome.wustl.edu 37 8 103662433 103662433 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 103662433 103662433 A G SNP KLF10 ENST00000285407 human ensembl 74_37 -1 known missense c.1370 p.L457P 0.943 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 tier1 - - 51 0 0.00 60 5 7.69 KLF15 0 genome.wustl.edu 37 3 126071448 126071448 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 126071448 126071448 C - DEL KLF15 ENST00000296233 human ensembl 74_37 -1 known frame_shift_del c.318 p.W108fs 0.677 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 tier1 25 0 0.00 10 4 28.57 KLF17 0 genome.wustl.edu 37 1 44596234 44596234 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 44596234 44596234 C T SNP KLF17 ENST00000372299 human ensembl 74_37 +1 known missense c.976 p.R326C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC ENSG00000171872 tier1 - - 49 0 0.00 35 6 14.29 KLF3 0 genome.wustl.edu 37 4 38690460 38690460 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 38690460 38690460 A - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.312 p.K106fs 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 tier1 34 0 0.00 31 11 26.19 KLF4 0 genome.wustl.edu 37 9 110249642 110249642 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 110249642 110249642 C T SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.1033 p.G345R 0.153 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 tier1 - - 11 0 0.00 5 4 44.44 KLHL30 0 genome.wustl.edu 37 2 239054401 239054401 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 239054401 239054401 G A SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known missense c.1078 p.V360M 0.969 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 KLHL30 HGNC ENSG00000168427 tier1 - - 72 0 0.00 47 28 37.33 KLHL30 0 genome.wustl.edu 37 2 239059686 239059686 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 239059686 239059686 G A SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known missense c.1717 p.G573S 0.000 NULL 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 KLHL30 HGNC ENSG00000168427 tier1 - - 59 0 0.00 41 13 24.07 KLHL34 0 genome.wustl.edu 37 X 21674919 21674920 + In_Frame_Ins INS - - CTC TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 21674919 21674920 - CTC INS KLHL34 ENST00000379499 human ensembl 74_37 -1 known in_frame_ins c.988_987 p.329in_frame_insE 0.997:0.870 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 KLHL34 HGNC ENSG00000185915 tier1 17 0 0.00 10 5 33.33 KLHL4 0 genome.wustl.edu 37 X 86772933 86772933 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 86772933 86772933 C T SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known nonsense c.37 p.Q13* 1.000 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 tier1 - - 62 0 0.00 24 9 27.27 KLHL41 0 genome.wustl.edu 37 2 170371230 170371230 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 170371230 170371230 C T SNP KLHL41 ENST00000284669 human ensembl 74_37 +1 known silent c.1257 p.C419 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 tier1 - - 43 0 0.00 26 3 10.34 KLHL6 0 genome.wustl.edu 37 3 183245687 183245687 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 183245687 183245687 C T SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known silent c.405 p.A135 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like 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 KLHL6 HGNC ENSG00000172578 tier1 rs141903870 - 49 0 0.00 34 17 33.33 KLK4 0 genome.wustl.edu 37 19 51410328 51410328 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 51410328 51410328 C 0 DEL KLK4 ENST00000324041 human ensembl 74_37 -1 known frame_shift_del c.627 p.L211fs 0.723 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 64 0 0.00 47 7 12.96 KMT2B 0 genome.wustl.edu 37 19 36212475 36212475 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 36212475 36212475 G T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.2226 p.Q742H 0.921 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 KMT2B Uniprot_gn ENSG00000272333 tier1 - - 149 0 0.00 69 15 17.86 KMT2B 0 genome.wustl.edu 37 19 36227710 36227710 + Nonsense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 36227710 36227710 G T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known nonsense c.7279 p.E2427* 0.999 pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C 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 KMT2B Uniprot_gn ENSG00000272333 tier1 - - 45 0 0.00 10 16 61.54 KMT2B 0 genome.wustl.edu 37 19 36227817 36227817 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 36227817 36227817 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.7302 p.A2434 0.263 pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C 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 KMT2B Uniprot_gn ENSG00000272333 tier1 - - 48 0 0.00 21 4 16.00 KMT2C 0 genome.wustl.edu 37 7 151882652 151882652 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 151882652 151882652 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.5073 p.A1691 0.985 superfamily_HMG_box_dom,smart_HMG_box_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 55 0 0.00 54 24 30.77 KMT2D 0 genome.wustl.edu 37 12 49425056 49425056 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 49425056 49425056 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.13432 p.R4478W 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,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 KMT2D HGNC ENSG00000167548 tier1 - - 42 0 0.00 23 5 17.86 KNTC1 0 genome.wustl.edu 37 12 123082350 123082350 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 123082350 123082350 C T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.4428 p.G1476 0.718 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 47 0 0.00 43 6 12.24 KREMEN1 0 genome.wustl.edu 37 22 29490351 29490351 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 29490351 29490351 A G SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.203 p.Y68C 1.000 pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 tier1 - - 63 0 0.00 55 10 15.38 KRT1 0 genome.wustl.edu 37 12 53069218 53069218 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 53069218 53069218 C T SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.1694 p.S565N 0.293 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 tier1 - - 91 0 0.00 88 5 5.38 KRT19 0 genome.wustl.edu 37 17 39684217 39684217 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 39684217 39684217 G T SNP KRT19 ENST00000361566 human ensembl 74_37 -1 known missense c.283 p.L95M 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 tier1 - - 236 0 0.00 157 69 30.53 KRT23 0 genome.wustl.edu 37 17 39092612 39092612 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 39092612 39092612 G A SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.244 p.R82C 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 141 0 0.00 92 5 5.15 KRT40 0 genome.wustl.edu 37 17 39135256 39135256 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 39135256 39135256 G A SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known silent c.996 p.T332 0.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 tier1 - - 34 0 0.00 24 7 22.58 KRT6A 0 genome.wustl.edu 37 12 52885367 52885367 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 52885367 52885367 G A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.694 p.R232W 0.221 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 tier1 - - 118 0 0.00 68 21 23.60 KRT72 0 genome.wustl.edu 37 12 52985384 52985384 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 52985384 52985384 C T SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.827 p.S276N 0.963 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 tier1 - - 82 0 0.00 70 10 12.50 KRT84 0 genome.wustl.edu 37 12 52771912 52771913 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 52771912 52771913 - G INS KRT84 ENST00000257951 human ensembl 74_37 -1 known frame_shift_ins c.1709_1708 p.L570fs 0.994:0.994 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 tier1 59 0 0.00 36 7 16.28 KRTAP10-12 0 genome.wustl.edu 37 21 46117509 46117509 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 46117509 46117509 C T SNP KRTAP10-12 ENST00000400365 human ensembl 74_37 +1 known silent c.393 p.C131 0.989 NULL NULL - no_errors KRTAP10-12 HGNC ENSG00000189169 tier1 - - 169 0 0.00 105 23 17.97 KRTAP2-3 0 genome.wustl.edu 37 17 39216157 39216157 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 39216157 39216157 C T SNP KRTAP2-3 ENST00000391418 human ensembl 74_37 -1 known missense c.146 p.R49H 0.994 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP2-3 HGNC ENSG00000212724 tier1 - - 45 0 0.00 33 20 37.74 KRTAP5-5 0 genome.wustl.edu 37 11 1651172 1651172 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 1651172 1651172 C T SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known silent c.102 p.G34 0.993 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 - - 150 0 0.00 159 17 9.66 KSR1 0 genome.wustl.edu 37 17 25915549 25915549 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 25915549 25915549 C T SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.1034 p.S345L 0.867 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 tier1 - - 87 0 0.00 58 7 10.77 KSR2 0 genome.wustl.edu 37 12 117923482 117923482 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 117923482 117923482 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.2234 p.R745Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 31 0 0.00 19 5 20.83 L3MBTL4 0 genome.wustl.edu 37 18 6093420 6093420 + Nonsense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 6093420 6093420 G T SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known nonsense c.1307 p.S436* 0.422 NULL pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 89 0 0.00 68 4 5.56 LAG3 0 genome.wustl.edu 37 12 6886966 6886966 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 6886966 6886966 G A SNP LAG3 ENST00000203629 human ensembl 74_37 +1 known missense c.1310 p.R437H 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors LAG3 HGNC ENSG00000089692 tier1 - - 43 0 0.00 29 5 14.71 LAMA1 0 genome.wustl.edu 37 18 6995375 6995375 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 6995375 6995375 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.4877 p.T1626M 0.007 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 rs201454996 - 80 0 0.00 67 27 28.12 LAMA1 0 genome.wustl.edu 37 18 7024414 7024414 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 7024414 7024414 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known nonsense c.2454 p.W818* 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 71 0 0.00 49 4 7.55 LAMA5 0 genome.wustl.edu 37 20 60892021 60892021 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 60892021 60892021 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.7570 p.A2524T 1.000 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 92 0 0.00 67 13 16.25 LAMA5 0 genome.wustl.edu 37 20 60911396 60911396 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 60911396 60911396 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.2323 p.R775C 0.999 smart_EG-like_dom pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 rs201613863 - 72 0 0.00 47 24 33.80 LARP4B 0 genome.wustl.edu 37 10 875405 875405 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 875405 875405 G T SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.1045 p.P349T 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 tier1 - - 39 0 0.00 28 9 24.32 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 890939 890939 T 0 DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 36 0 0.00 36 7 16.28 LCE1C 0 genome.wustl.edu 37 1 152777650 152777650 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 152777650 152777650 C - DEL LCE1C ENST00000368768 human ensembl 74_37 -1 known frame_shift_del c.305 p.G102fs 0.940 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 tier1 70 0 0.00 63 18 22.22 LCK 0 genome.wustl.edu 37 1 32740999 32740999 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 32740999 32740999 C T SNP LCK ENST00000333070 human ensembl 74_37 +1 known missense c.356 p.A119V 1.000 smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 tier1 - - 83 0 0.00 42 25 37.31 LCMT1 0 genome.wustl.edu 37 16 25143764 25143764 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 25143764 25143764 G A SNP LCMT1 ENST00000399069 human ensembl 74_37 +1 known missense c.247 p.A83T 1.000 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCMT1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCMT1 - no_errors LCMT1 HGNC ENSG00000205629 tier1 - - 69 0 0.00 64 5 7.25 LCN10 0 genome.wustl.edu 37 9 139636343 139636343 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 139636343 139636343 C T SNP LCN10 ENST00000497771 human ensembl 74_37 -1 known missense c.247 p.A83T 0.003 superfamily_Calycin-like superfamily_Calycin-like - no_errors LCN10 HGNC ENSG00000187922 71 0 0.00 54 6 9.84 LCORL 0 genome.wustl.edu 37 4 18023330 18023330 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 18023330 18023330 A G SNP LCORL ENST00000382226 human ensembl 74_37 -1 known silent c.45 p.A15 0.996 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCORL HGNC ENSG00000178177 tier1 - - 18 0 0.00 9 6 40.00 LCP2 0 genome.wustl.edu 37 5 169697818 169697818 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 169697818 169697818 G T SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known missense c.428 p.A143E 0.176 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 tier1 - - 76 0 0.00 68 13 16.05 LDLRAP1 0 genome.wustl.edu 37 1 25893406 25893406 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 25893406 25893406 G A SNP LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known missense c.850 p.A284T 0.986 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 tier1 rs144622500 - 73 0 0.00 44 12 21.43 LDLRAP1 0 genome.wustl.edu 37 1 25889632 25889632 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 25889632 25889632 T 0 DEL LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known frame_shift_del c.604 p.S202fs 0.000 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 148 0 0.00 136 8 5.56 LGR5 0 genome.wustl.edu 37 12 71977667 71977667 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 71977667 71977667 G A SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known missense c.1877 p.R626Q 0.375 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 tier1 - - 66 0 0.00 67 12 15.19 LHX6 0 genome.wustl.edu 37 9 124967006 124967006 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 124967006 124967006 C T SNP LHX6 ENST00000340587 human ensembl 74_37 -1 known missense c.1108 p.A370T 0.996 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX6 HGNC ENSG00000106852 tier1 - - 91 0 0.00 50 16 23.88 LIAS 0 genome.wustl.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 39462464 39462464 A - DEL LIAS ENST00000261434 human ensembl 74_37 +1 known frame_shift_del c.100 p.K36fs 0.641 pirsf_Lipoyl_synth pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth - no_errors LIAS HGNC ENSG00000121897 tier1 40 0 0.00 32 10 23.81 LIG3 0 genome.wustl.edu 37 17 33326423 33326423 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 33326423 33326423 G A SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known silent c.2211 p.T737 0.576 pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 31 0 0.00 43 3 6.52 LILRB2 0 genome.wustl.edu 37 19 54778658 54778658 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 54778658 54778658 T A SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known missense c.1676 p.D559V 0.762 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 tier1 - - 155 0 0.00 101 9 8.18 LILRB4 0 genome.wustl.edu 37 19 55179121 55179121 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 55179121 55179121 G A SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.1077 p.T359 0.000 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 tier1 rs61738941 - 103 0 0.00 78 42 35.00 LIM2 0 genome.wustl.edu 37 19 51885678 51885678 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 51885678 51885678 A - DEL LIM2 ENST00000221973 human ensembl 74_37 -1 known frame_shift_del c.445 p.S149fs 0.901 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 tier1 31 0 0.00 32 11 25.58 LIM2 0 genome.wustl.edu 37 19 51883833 51883833 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 51883833 51883833 C T SNP LIM2 ENST00000221973 human ensembl 74_37 -1 known missense c.512 p.R171H 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 42 0 0.00 46 4 8.00 LIMA1 0 genome.wustl.edu 37 12 50594561 50594561 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 50594561 50594561 T C SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.971 p.K324R 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 tier1 - - 83 0 0.00 56 11 16.18 LIMD1 0 genome.wustl.edu 37 3 45637755 45637755 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 45637755 45637755 G A SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known missense c.1384 p.A462T 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 tier1 - - 39 0 0.00 30 17 36.17 LIMK2 0 genome.wustl.edu 37 22 31658176 31658176 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 31658176 31658176 G A SNP LIMK2 ENST00000331728 human ensembl 74_37 +1 known missense c.608 p.R203H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 tier1 - - 61 0 0.00 32 15 31.91 LIMS2 0 genome.wustl.edu 37 2 128396003 128396003 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 128396003 128396003 G A SNP LIMS2 ENST00000494613 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LIMS2 HGNC ENSG00000072163 tier1 - - 103 0 0.00 69 8 10.39 LIN28B 0 genome.wustl.edu 37 6 105526529 105526529 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 105526529 105526529 G T SNP LIN28B ENST00000345080 human ensembl 74_37 +1 known missense c.624 p.Q208H 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28B HGNC ENSG00000187772 tier1 - - 61 0 0.00 33 12 26.67 LINC00452 0 genome.wustl.edu 37 13 114622476 114622477 + RNA INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 114622476 114622477 - C INS LINC00452 ENST00000426859 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors LINC00452 HGNC ENSG00000229373 tier1 200 0 0.00 119 40 25.16 LINC00588 0 genome.wustl.edu 37 8 58192537 58192537 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 58192537 58192537 G A SNP LINC00588 ENST00000521663 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors LINC00588 HGNC ENSG00000215117 34 0 0.00 34 3 8.11 LINC00615 0 genome.wustl.edu 37 12 91340253 91340254 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 91340253 91340254 TT - DEL LINC00615 ENST00000546725 human ensembl 74_37 +1 known rna NULL NULL 0.148:0.180 - - - no_errors LINC00615 HGNC ENSG00000196243 tier1 41 0 0.00 25 7 21.88 LINC00668 0 genome.wustl.edu 37 18 6928400 6928400 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 6928400 6928400 C T SNP LINC00668 ENST00000579012 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00668 HGNC ENSG00000265933 tier1 - - 49 0 0.00 43 7 14.00 LINC00670 0 genome.wustl.edu 37 17 12493915 12493915 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 12493915 12493915 T C SNP LINC00670 ENST00000313495 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00670 HGNC ENSG00000179136 tier1 - - 49 0 0.00 29 9 23.68 LINC00933 0 genome.wustl.edu 37 15 85121557 85121558 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 85121557 85121558 AA - DEL LINC00933 ENST00000557887 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.003 - - - no_errors LINC00933 HGNC ENSG00000259728 tier1 10 0 0.00 4 3 42.86 LINC00935 0 genome.wustl.edu 37 12 49129870 49129870 + Splice_Site SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 49129870 49129870 G T SNP LINC00935 ENST00000548054 human ensembl 74_37 +1 known splice_site c.80-1 e2-1 0.105 - - - no_errors LINC00935 HGNC ENSG00000257987 tier1 - - 42 0 0.00 16 6 27.27 LINC00943 0 genome.wustl.edu 37 12 127229758 127229758 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 127229758 127229758 C A SNP LINC00943 ENST00000345111 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00943 HGNC ENSG00000189238 tier1 - - 33 0 0.00 25 12 32.43 LINC00955 0 genome.wustl.edu 37 4 3590787 3590787 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 3590787 3590787 A C SNP LINC00955 ENST00000514422 human ensembl 74_37 +1 novel missense c.272 p.N91T 0.267 NULL NULL - no_errors LINC00955 HGNC ENSG00000216560 tier1 - - 64 0 0.00 53 4 6.90 LINGO1 0 genome.wustl.edu 37 15 77906417 77906417 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 77906417 77906417 G A SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1832 p.A611V 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 25 0 0.00 13 4 23.53 LIPE 0 genome.wustl.edu 37 19 42911556 42911556 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 42911556 42911556 C T SNP LIPE ENST00000244289 human ensembl 74_37 -1 known missense c.1907 p.R636H 0.938 pfam_Steryl_acetyl_hydrolase pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 53 0 0.00 47 4 7.84 LLGL1 0 genome.wustl.edu 37 17 18138543 18138543 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 18138543 18138543 G A SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.1201 p.V401M 0.926 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 tier1 - - 38 0 0.00 33 6 15.38 LMAN1 0 genome.wustl.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 57013285 57013285 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_del c.823-2 e8-2 1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 tier1 54 0 0.00 33 12 26.67 LMAN1 0 genome.wustl.edu 37 18 57026329 57026329 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 57026329 57026329 A T SNP LMAN1 ENST00000251047 human ensembl 74_37 -1 known missense c.148 p.Y50N 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 tier1 - - 128 0 0.00 86 7 7.53 LMAN2L 0 genome.wustl.edu 37 2 97377431 97377431 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 97377431 97377431 T A SNP LMAN2L ENST00000377079 human ensembl 74_37 -1 known missense c.779 p.Y260F 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2L HGNC ENSG00000114988 43 0 0.00 28 3 9.68 LMCD1 0 genome.wustl.edu 37 3 8578939 8578939 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 8578939 8578939 G A SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known missense c.200 p.R67Q 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 tier1 - - 35 0 0.00 30 5 14.29 LMLN 0 genome.wustl.edu 37 3 197687103 197687103 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 197687103 197687103 C A SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.11 p.T4K 1.000 NULL pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 tier1 - - 17 0 0.00 21 5 19.23 LMO7 0 genome.wustl.edu 37 13 76432182 76432183 + RNA INS - - TA TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 76432182 76432183 - TA INS LMO7 ENST00000605961 human ensembl 74_37 +1 known rna NULL NULL 0.669:0.209 - - - no_errors LMO7 HGNC ENSG00000136153 tier1 61 0 0.00 47 15 24.19 LMOD1 0 genome.wustl.edu 37 1 201869461 201869461 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 201869461 201869461 C T SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known missense c.680 p.R227H 0.012 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 tier1 rs199655500 - 109 0 0.00 56 6 9.68 LMTK3 0 genome.wustl.edu 37 19 49003054 49003054 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 49003054 49003054 G T SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known silent c.1359 p.P453 0.889 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 tier1 - - 50 0 0.00 32 10 23.81 LNPEP 0 genome.wustl.edu 37 5 96315249 96315249 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 96315249 96315249 A - DEL LNPEP ENST00000231368 human ensembl 74_37 +1 known frame_shift_del c.427 p.N145fs 0.910 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 34 0 0.00 27 3 10.00 LOC100129029 0 genome.wustl.edu 37 2 159517033 159517033 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 159517033 159517033 C T SNP LOC100129029 ENST00000342892 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005042.4 Clone_based_vega_gene ENSG00000204380 tier1 - - 55 0 0.00 41 7 14.58 LOC100190940 0 genome.wustl.edu 37 12 130520718 130520718 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 130520718 130520718 G A SNP LOC100190940 ENST00000291374 human ensembl 74_37 -1 known rna NULL NULL 0.116 - - - no_errors RP11-474D1.3 Clone_based_vega_gene ENSG00000214039 23 0 0.00 11 7 38.89 LOC100506731 0 genome.wustl.edu 37 14 85996121 85996121 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 85996121 85996121 G A SNP LOC100506731 ENST00000380722 human ensembl 74_37 -1 known rna NULL NULL 0.079 - - - no_errors RP11-497E19.1 Clone_based_vega_gene ENSG00000205562 tier1 - - 84 0 0.00 74 7 8.64 LOC100996415 0 genome.wustl.edu 37 22 20342668 20342668 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 20342668 20342668 T C SNP LOC100996415 ENST00000454636 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors XXbac-B33L19.3 Clone_based_vega_gene ENSG00000188424 tier1 - - 17 0 0.00 7 8 53.33 LOC101927091 0 genome.wustl.edu 37 15 94364263 94364263 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 94364263 94364263 C T SNP LOC101927091 ENST00000553818 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3049M7.1 Clone_based_vega_gene ENSG00000258754 tier1 - - 48 0 0.00 33 12 26.67 LOC101927345 0 genome.wustl.edu 37 1 143391692 143391692 + RNA SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 143391692 143391692 T G SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.913 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 380 0 0.00 338 24 6.63 LOC101927345 0 genome.wustl.edu 37 1 143392642 143392642 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 143392642 143392642 A 0 DEL LOC101927345 ENST00000415543 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 134 0 0.00 145 8 5.23 LOC101928664 0 genome.wustl.edu 37 19 12494418 12494418 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 12494418 12494418 G A SNP LOC101928664 ENST00000435033 human ensembl 74_37 -1 known silent c.87 p.Y29 0.863 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors CTD-3105H18.14 Clone_based_vega_gene ENSG00000268744 tier1 - - 114 0 0.00 95 13 12.04 LOC101929274 0 genome.wustl.edu 37 16 11554935 11554935 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 11554935 11554935 G A SNP LOC101929274 ENST00000344649 human ensembl 74_37 -1 known silent c.231 p.A77 0.000 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene ENSG00000188897 tier1 - - 55 0 0.00 41 10 19.61 LOC101929372 0 genome.wustl.edu 37 22 18064286 18064286 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 18064286 18064286 G - DEL LOC101929372 ENST00000443935 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC004019.13 Clone_based_vega_gene ENSG00000236754 tier1 26 0 0.00 32 5 13.51 LOC101929847 0 genome.wustl.edu 37 15 84868578 84868579 + RNA INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 84868578 84868579 - C INS LOC101929847 ENST00000316967 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.002 - - - no_errors AC103965.1 Clone_based_vega_gene ENSG00000225151 tier1 127 0 0.00 84 27 24.32 LOC101929948 0 genome.wustl.edu 37 14 19563232 19563232 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 19563232 19563232 T C SNP LOC101929948 ENST00000548748 human ensembl 74_37 -1 known rna NULL NULL 0.050 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 tier1 - - 26 0 0.00 24 25 51.02 LOC202181 0 genome.wustl.edu 37 5 177099156 177099156 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 177099156 177099156 C T SNP LOC202181 ENST00000515045 human ensembl 74_37 -1 known rna NULL NULL 0.886 - - - no_errors RP11-1277A3.2 Clone_based_vega_gene ENSG00000246596 tier1 - - 38 0 0.00 10 5 33.33 LOC285556 0 genome.wustl.edu 37 4 100575742 100575742 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 100575742 100575742 C T SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.64 p.D22N 0.469 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 114 0 0.00 83 14 14.43 LOC344967 0 genome.wustl.edu 37 4 40045118 40045118 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 40045118 40045118 C T SNP LOC344967 ENST00000381811 human ensembl 74_37 -1 known rna NULL NULL 0.899 - - - no_errors RP11-333E13.4 Clone_based_vega_gene ENSG00000205794 tier1 - - 43 0 0.00 38 11 22.45 LOC399815 0 genome.wustl.edu 37 10 124648141 124648141 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 124648141 124648141 C A SNP LOC399815 ENST00000425266 human ensembl 74_37 +1 putative rna NULL NULL 0.919 - - - no_errors RP11-564D11.3 Clone_based_vega_gene ENSG00000255624 tier1 - - 69 0 0.00 60 4 6.25 LOC400794 0 genome.wustl.edu 37 1 165550908 165550908 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 165550908 165550908 C T SNP LOC400794 ENST00000416424 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-280O1.2 Clone_based_vega_gene ENSG00000237463 tier1 - - 21 0 0.00 20 5 20.00 LOC440040 0 genome.wustl.edu 37 11 49831722 49831722 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 49831722 49831722 C A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 231 0 0.00 154 55 26.32 LOC440518 0 genome.wustl.edu 37 19 22784760 22784760 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 22784760 22784760 A G SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 tier1 - - 18 0 0.00 14 5 26.32 LOC440895 0 genome.wustl.edu 37 2 110742074 110742074 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 110742074 110742074 A G SNP LOC440895 ENST00000454928 human ensembl 74_37 +1 known rna NULL NULL 0.950 - - - no_errors AC013271.3 Clone_based_vega_gene ENSG00000186148 tier1 - - 66 0 0.00 53 14 20.90 LOC645188 0 genome.wustl.edu 37 X 140714666 140714666 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 140714666 140714666 A - DEL LOC645188 ENST00000412163 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-171K16.5 Clone_based_vega_gene ENSG00000223438 tier1 51 0 0.00 36 9 20.00 LOC728715 0 genome.wustl.edu 37 12 9720433 9720433 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 9720433 9720433 G 0 DEL LOC728715 ENST00000520314 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 9 0 0.00 5 7 58.33 LOC730441 0 genome.wustl.edu 37 7 141971109 141971109 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 141971109 141971109 C - DEL LOC730441 ENST00000334288 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors U66059.29 Clone_based_vega_gene ENSG00000186163 tier1 20 0 0.00 25 4 13.79 LOXL4 0 genome.wustl.edu 37 10 100019168 100019168 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 100019168 100019168 C A SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known missense c.681 p.K227N 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL4 HGNC ENSG00000138131 tier1 - - 38 0 0.00 28 4 12.50 LPHN1 0 genome.wustl.edu 37 19 14288527 14288527 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 14288527 14288527 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known silent c.100 p.L34 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 tier1 - - 19 0 0.00 17 4 19.05 LPIN1 0 genome.wustl.edu 37 2 11960543 11960543 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 11960543 11960543 T C SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.2671 p.Y891H 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 tier1 - - 53 0 0.00 39 14 26.42 LPIN1 0 genome.wustl.edu 37 2 11964848 11964848 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 11964848 11964848 T C SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known silent c.2859 p.S953 0.906 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 tier1 - - 38 0 0.00 26 10 27.78 LPIN3 0 genome.wustl.edu 37 20 39981291 39981291 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 39981291 39981291 A C SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.1409 p.N470T 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 - - 73 0 0.00 48 14 22.58 LPIN3 0 genome.wustl.edu 37 20 39986087 39986087 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 39986087 39986087 T C SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.2039 p.L680P 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 - - 36 0 0.00 12 6 33.33 LRFN3 0 genome.wustl.edu 37 19 36431206 36431206 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 36431206 36431206 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known silent c.879 p.C293 0.982 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 tier1 - - 9 0 0.00 10 8 44.44 LRIG1 0 genome.wustl.edu 37 3 66433685 66433685 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 66433685 66433685 G T SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.2212 p.R738 0.982 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,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_dom - no_errors LRIG1 HGNC ENSG00000144749 59 0 0.00 52 3 5.45 LRP1 0 genome.wustl.edu 37 12 57602955 57602955 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 57602955 57602955 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.12235 p.P4079S 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 59 0 0.00 47 15 24.19 LRP11 0 genome.wustl.edu 37 6 150141774 150141774 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 150141774 150141774 G A SNP LRP11 ENST00000239367 human ensembl 74_37 -1 known nonsense c.1414 p.R472* 1.000 NULL pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC ENSG00000120256 tier1 - - 54 0 0.00 29 7 19.44 LRP12 0 genome.wustl.edu 37 8 105502332 105502332 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 105502332 105502332 T C SNP LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 0.310 - - - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 38 0 0.00 35 4 10.26 LRP12 0 genome.wustl.edu 37 8 105502342 105502342 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 105502342 105502342 G A SNP LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 0.013 - - - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 38 0 0.00 33 4 10.81 LRP12 0 genome.wustl.edu 37 8 105502353 105502353 + RNA SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 105502353 105502353 A C SNP LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 0.129 - - - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 37 0 0.00 23 13 36.11 LRP12 0 genome.wustl.edu 37 8 105502452 105502452 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 105502452 105502452 T - DEL LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors LRP12 HGNC ENSG00000147650 tier1 53 0 0.00 38 16 29.63 LRP12 0 genome.wustl.edu 37 8 105510178 105510178 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 105510178 105510178 G T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.545 p.A182D 1.000 smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 73 0 0.00 53 20 27.40 LRP12 0 genome.wustl.edu 37 8 105601204 105601204 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 105601204 105601204 C A SNP LRP12 ENST00000520770 human ensembl 74_37 -1 known rna NULL NULL 0.647 - - - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 60 0 0.00 29 18 38.30 LRP1B 0 genome.wustl.edu 37 2 141108458 141108458 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 141108458 141108458 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.11800 p.M3934V 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 62 0 0.00 50 29 36.71 LRP1B 0 genome.wustl.edu 37 2 141208184 141208184 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 141208184 141208184 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10010 p.D3337G 1.000 pfam_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 62 0 0.00 45 11 19.64 LRP2 0 genome.wustl.edu 37 2 170115713 170115713 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 170115713 170115713 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.2335 p.A779T 0.964 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 19 0 0.00 23 8 25.81 LRP5 0 genome.wustl.edu 37 11 68131293 68131293 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 68131293 68131293 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known nonsense c.765 p.W255* 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 - - 95 0 0.00 60 6 9.09 LRPPRC 0 genome.wustl.edu 37 2 44145165 44145165 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 44145165 44145165 T - DEL LRPPRC ENST00000260665 human ensembl 74_37 -1 known frame_shift_del c.3147 p.A1051fs 0.844 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 tier1 76 0 0.00 55 7 11.29 LRRC14 0 genome.wustl.edu 37 8 145745261 145745261 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 145745261 145745261 T C SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.152 p.V51A 0.998 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 tier1 - - 84 0 0.00 93 13 12.26 LRRC24 0 genome.wustl.edu 37 8 145747975 145747975 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 145747975 145747975 A G SNP LRRC24 ENST00000529415 human ensembl 74_37 -1 known missense c.1426 p.S476P 0.964 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_dom - no_errors LRRC24 HGNC ENSG00000254402 tier1 - - 36 0 0.00 32 7 17.95 LRRC37A4P 0 genome.wustl.edu 37 17 43587657 43587657 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 43587657 43587657 C T SNP LRRC37A4P ENST00000579913 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors LRRC37A4P HGNC ENSG00000214425 65 0 0.00 56 5 8.20 LRRC37A7P 0 genome.wustl.edu 37 18 29306351 29306351 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 29306351 29306351 G 0 DEL LRRC37A7P ENST00000583900 human ensembl 74_37 +1 known rna NULL NULL 0.114 - - - no_errors LRRC37A7P HGNC ENSG00000265158 8 0 0.00 4 2 33.33 LRRC55 0 genome.wustl.edu 37 11 56949426 56949426 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 56949426 56949426 C T SNP LRRC55 ENST00000497933 human ensembl 74_37 +1 known missense c.59 p.S20L 0.017 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 tier1 - - 89 0 0.00 61 10 14.08 LRRC58 0 genome.wustl.edu 37 3 120050241 120050241 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 120050241 120050241 A T SNP LRRC58 ENST00000295628 human ensembl 74_37 -1 known missense c.922 p.C308S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC58 HGNC ENSG00000163428 tier1 - - 35 0 0.00 24 5 17.24 LRRC7 0 genome.wustl.edu 37 1 70225992 70225992 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 70225992 70225992 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.105 p.Q35 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 35 0 0.00 22 15 40.54 LRRC8D 0 genome.wustl.edu 37 1 90400757 90400757 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 90400757 90400757 A G SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known silent c.2130 p.S710 0.451 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 tier1 - - 29 0 0.00 30 4 11.76 LRRC8E 0 genome.wustl.edu 37 19 7964449 7964449 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 7964449 7964449 C T SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.1042 p.R348W 0.978 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 tier1 - - 28 0 0.00 23 4 14.81 LRRC9 0 genome.wustl.edu 37 14 60474815 60474815 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 60474815 60474815 A G SNP LRRC9 ENST00000254271 human ensembl 74_37 +1 known silent c.3069 p.L1023 0.977 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 tier1 - - 69 0 0.00 62 10 13.89 LRRIQ1 0 genome.wustl.edu 37 12 85450889 85450889 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 85450889 85450889 G A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.2318 p.C773Y 0.982 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 66 0 0.00 52 10 16.13 LRRK2 0 genome.wustl.edu 37 12 40740637 40740637 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 40740637 40740637 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.6192 p.Y2064 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 54 0 0.00 63 6 8.70 LRTM1 0 genome.wustl.edu 37 3 54958936 54958936 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 54958936 54958936 A G SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.314 p.L105P 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 43 0 0.00 22 3 12.00 LSM1 0 genome.wustl.edu 37 8 38021014 38021014 + RNA SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 38021014 38021014 A T SNP LSM1 ENST00000520286 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LSM1 HGNC ENSG00000175324 tier1 - - 32 0 0.00 36 6 14.29 LSR 0 genome.wustl.edu 37 19 35757844 35757845 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 35757844 35757845 - C INS LSR ENST00000361790 human ensembl 74_37 +1 known frame_shift_ins c.1262_1263 p.S424fs 0.645:0.001 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 tier1 46 0 0.00 27 5 15.62 LTBP3 0 genome.wustl.edu 37 11 65320669 65320669 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 65320669 65320669 C T SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known silent c.1029 p.Q343 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 - - 61 0 0.00 53 8 13.11 LTN1 0 genome.wustl.edu 37 21 30338185 30338185 + Splice_Site SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 30338185 30338185 A G SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known splice_site c.2301+2 e11+2 1.000 - - - no_errors LTN1 HGNC ENSG00000198862 tier1 - - 206 0 0.00 190 16 7.77 LTN1 0 genome.wustl.edu 37 21 30357050 30357050 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 30357050 30357050 G T SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.677 p.P226H 0.997 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 32 0 0.00 21 5 19.23 LUZP1 0 genome.wustl.edu 37 1 23418182 23418182 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 23418182 23418182 G A SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known missense c.2573 p.A858V 0.637 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 tier1 - - 35 0 0.00 17 4 19.05 LYL1 0 genome.wustl.edu 37 19 13211729 13211729 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 13211729 13211729 G A SNP LYL1 ENST00000264824 human ensembl 74_37 -1 known missense c.257 p.P86L 0.171 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors LYL1 HGNC ENSG00000104903 tier1 - - 57 0 0.00 51 7 12.07 LYST 0 genome.wustl.edu 37 1 235993390 235993390 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 235993390 235993390 T - DEL LYST ENST00000468626 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors LYST HGNC ENSG00000143669 tier1 9 0 0.00 12 6 33.33 LZTR1 0 genome.wustl.edu 37 22 21348525 21348525 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 21348525 21348525 C A SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1582 p.L528I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 82 0 0.00 56 20 26.32 MACF1 0 genome.wustl.edu 37 1 39798688 39798688 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 39798688 39798688 C T SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.6539 p.P2180L 0.000 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 23 0 0.00 12 5 29.41 MADD 0 genome.wustl.edu 37 11 47348351 47348351 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 47348351 47348351 G T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.4785 p.E1595D 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 tier1 - - 64 0 0.00 46 7 13.21 MADD 0 genome.wustl.edu 37 11 47306718 47306718 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 47306718 47306718 G A SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.2384 p.R795Q 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 39 0 0.00 25 2 7.41 MAGEE1 0 genome.wustl.edu 37 X 75650001 75650001 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 75650001 75650001 C A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1678 p.L560M 0.019 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 41 0 0.00 18 12 40.00 MAGEL2 0 genome.wustl.edu 37 15 23890893 23890894 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 23890893 23890894 - G INS MAGEL2 ENST00000532292 human ensembl 74_37 -1 known frame_shift_ins c.188_187 p.Q63fs 0.993:0.990 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 26 0 0.00 13 7 35.00 MAGEL2 0 genome.wustl.edu 37 15 23891049 23891049 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 23891049 23891049 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.32 p.A11V 0.050 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 73 0 0.00 84 6 6.67 MAGI2 0 genome.wustl.edu 37 7 77814972 77814972 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 77814972 77814972 C A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2285 p.R762M 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 tier1 - - 70 0 0.00 41 17 29.31 MALAT1 0 genome.wustl.edu 37 11 65270091 65270091 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 65270091 65270091 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.911 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 38 0 0.00 33 7 17.50 MAN2A2 0 genome.wustl.edu 37 15 91453730 91453730 + Splice_Site DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 91453730 91453730 G - DEL MAN2A2 ENST00000360468 human ensembl 74_37 +1 known splice_site_del c.1578-1 e10-1 1.000 - - - no_errors MAN2A2 HGNC ENSG00000196547 tier1 76 0 0.00 86 10 10.42 MANSC1 0 genome.wustl.edu 37 12 12483849 12483849 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 12483849 12483849 G A SNP MANSC1 ENST00000535902 human ensembl 74_37 -1 known silent c.408 p.P136 0.000 NULL pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC1 HGNC ENSG00000111261 tier1 - - 83 0 0.00 62 4 6.06 MAP1LC3B 0 genome.wustl.edu 37 16 87436702 87436702 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 87436702 87436702 A - DEL MAP1LC3B ENST00000268607 human ensembl 74_37 +1 known frame_shift_del c.377 p.*126fs 0.001 NULL pfam_Atg8_fam,pfam_Atg12 - no_errors MAP1LC3B HGNC ENSG00000140941 tier1 73 0 0.00 60 11 15.49 MAP3K1 0 genome.wustl.edu 37 5 56177702 56177702 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 56177702 56177702 A G SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.2675 p.N892S 0.646 NULL pfam_Prot_kinase_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_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 - - 27 0 0.00 22 7 24.14 MAP3K13 0 genome.wustl.edu 37 3 185184613 185184613 + Splice_Site SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 185184613 185184613 G A SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known splice_site c.1506-1 e9-1 1.000 - - - no_errors MAP3K13 HGNC ENSG00000073803 tier1 - - 50 0 0.00 33 8 19.51 MAP3K2 0 genome.wustl.edu 37 2 128096511 128096511 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 128096511 128096511 T - DEL MAP3K2 ENST00000344908 human ensembl 74_37 -1 known frame_shift_del c.120 p.K40fs 0.721 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 tier1 37 0 0.00 32 4 11.11 MAP4K5 0 genome.wustl.edu 37 14 50901268 50901268 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 50901268 50901268 T A SNP MAP4K5 ENST00000013125 human ensembl 74_37 -1 known missense c.2008 p.S670C 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_dom,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_dom - no_errors MAP4K5 HGNC ENSG00000012983 tier1 - - 43 0 0.00 20 5 20.00 MAP7 0 genome.wustl.edu 37 6 136847057 136847059 + In_Frame_Del DEL TCT TCT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 136847057 136847059 TCT - DEL MAP7 ENST00000454590 human ensembl 74_37 -1 known in_frame_del c.46_44 p.K15in_frame_del 1.000:1.000:1.000 NULL pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 tier1 69 0 0.00 81 16 16.49 MAPK8IP3 0 genome.wustl.edu 37 16 1797089 1797089 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 1797089 1797089 C T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known silent c.804 p.T268 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 - - 163 0 0.00 128 11 7.91 MAPK9 0 genome.wustl.edu 37 5 179691803 179691803 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 179691803 179691803 T - DEL MAPK9 ENST00000452135 human ensembl 74_37 -1 known frame_shift_del c.289 p.T97fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 tier1 49 0 0.00 43 17 28.33 MAPKAPK2 0 genome.wustl.edu 37 1 206905942 206905942 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 206905942 206905942 C T SNP MAPKAPK2 ENST00000367103 human ensembl 74_37 +1 known missense c.1082 p.A361V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK2 HGNC ENSG00000162889 tier1 - - 65 0 0.00 51 4 7.27 MAPKAPK5 0 genome.wustl.edu 37 12 112304016 112304016 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 112304016 112304016 G A SNP MAPKAPK5 ENST00000551404 human ensembl 74_37 +1 known missense c.167 p.R56H 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK5 HGNC ENSG00000089022 tier1 - - 47 0 0.00 26 18 40.91 MAPRE1 0 genome.wustl.edu 37 20 31424518 31424518 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 31424518 31424518 G A SNP MAPRE1 ENST00000375571 human ensembl 74_37 +1 known missense c.346 p.D116N 1.000 superfamily_CH-domain,pfscan_CH-domain pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE1 HGNC ENSG00000101367 tier1 - - 58 0 0.00 40 10 20.00 MARCH4 0 genome.wustl.edu 37 2 217142513 217142513 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 217142513 217142513 G A SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known silent c.747 p.I249 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 - - 33 0 0.00 17 5 22.73 MARCH6 0 genome.wustl.edu 37 5 10402530 10402530 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 10402530 10402530 G A SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.1088 p.R363H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 tier1 - - 69 0 0.00 60 9 13.04 MARCH7 0 genome.wustl.edu 37 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 160604680 160604680 T - DEL MARCH7 ENST00000259050 human ensembl 74_37 +1 known frame_shift_del c.879 p.S296fs 0.910 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 tier1 39 0 0.00 23 7 23.33 MARK3 0 genome.wustl.edu 37 14 103894732 103894732 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 103894732 103894732 A - DEL MARK3 ENST00000429436 human ensembl 74_37 +1 known frame_shift_del c.252 p.I86fs 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 tier1 68 0 0.00 61 22 26.51 MAT2B 0 genome.wustl.edu 37 5 162945388 162945389 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 162945388 162945389 TT - DEL MAT2B ENST00000521838 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MAT2B HGNC ENSG00000038274 tier1 62 0 0.00 56 20 26.32 MATN1-AS1 0 genome.wustl.edu 37 1 31192412 31192412 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 31192412 31192412 G T SNP MATN1-AS1 ENST00000414532 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MATN1-AS1 HGNC ENSG00000186056 tier1 - - 66 0 0.00 44 4 8.33 MATN4 0 genome.wustl.edu 37 20 43926824 43926824 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 43926824 43926824 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.1535 p.R512H 0.996 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 tier1 - - 19 0 0.00 12 10 45.45 MAU2 0 genome.wustl.edu 37 19 19456168 19456168 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 19456168 19456168 C T SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known missense c.1211 p.T404M 1.000 pfam_Cohesin_loading_factor,smart_TPR_repeat pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 tier1 - - 93 0 0.00 61 20 24.69 MBD2 0 genome.wustl.edu 37 18 51750459 51750459 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 51750459 51750459 G - DEL MBD2 ENST00000256429 human ensembl 74_37 -1 known frame_shift_del c.471 p.G158fs 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 tier1 63 0 0.00 46 8 14.81 MBD4 0 genome.wustl.edu 37 3 129155548 129155548 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 129155548 129155548 T - DEL MBD4 ENST00000249910 human ensembl 74_37 -1 known frame_shift_del c.939 p.E314fs 0.059 pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 tier1 46 0 0.00 30 11 26.83 MBL2 0 genome.wustl.edu 37 10 54531373 54531373 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 54531373 54531373 G T SNP MBL2 ENST00000373968 human ensembl 74_37 -1 known missense c.23 p.P8H 0.288 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 tier1 - - 53 0 0.00 33 5 13.16 MBNL2 0 genome.wustl.edu 37 13 97995458 97995458 + Silent SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 97995458 97995458 T A SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known silent c.528 p.T176 0.674 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 tier1 - - 84 0 0.00 65 4 5.80 MCAM 0 genome.wustl.edu 37 11 119184029 119184029 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 119184029 119184029 C T SNP MCAM ENST00000392814 human ensembl 74_37 -1 known missense c.37 p.V13I 0.000 NULL pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 tier1 - - 45 0 0.00 24 15 38.46 MCC 0 genome.wustl.edu 37 5 112478960 112478960 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 112478960 112478960 G A SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.269 p.A90V 0.997 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 tier1 - - 31 0 0.00 29 6 17.14 MCCC1 0 genome.wustl.edu 37 3 182804530 182804530 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 182804530 182804530 T C SNP MCCC1 ENST00000265594 human ensembl 74_37 -1 known missense c.320 p.Y107C 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 tier1 rs144872258 - 71 0 0.00 75 5 6.17 MCM8 0 genome.wustl.edu 37 20 5953318 5953318 + Silent SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 5953318 5953318 A C SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known silent c.1320 p.S440 0.088 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 tier1 - - 9 0 0.00 9 5 35.71 MCOLN1 0 genome.wustl.edu 37 19 7594070 7594072 + In_Frame_Del DEL CTT CTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 7594070 7594072 CTT - DEL MCOLN1 ENST00000264079 human ensembl 74_37 +1 known in_frame_del c.1218_1220 p.F408in_frame_del 0.997:1.000:1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 tier1 47 0 0.00 18 8 30.77 MCPH1 0 genome.wustl.edu 37 8 6289044 6289044 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 6289044 6289044 T C SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known silent c.258 p.I86 0.001 superfamily_BRCT_dom,pfscan_BRCT_dom pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 tier1 - - 39 0 0.00 30 11 26.83 MCTP1 0 genome.wustl.edu 37 5 94050578 94050578 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 94050578 94050578 T - DEL MCTP1 ENST00000515393 human ensembl 74_37 -1 known frame_shift_del c.2624 p.K875fs 1.000 pfam_PRibTrfase_C pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 tier1 49 0 0.00 36 9 20.00 ME2 0 genome.wustl.edu 37 18 48450472 48450472 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 48450472 48450472 G A SNP ME2 ENST00000321341 human ensembl 74_37 +1 known missense c.1061 p.R354Q 0.689 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 tier1 - - 39 0 0.00 33 6 15.38 MED12L 0 genome.wustl.edu 37 3 151095801 151095801 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 151095801 151095801 T A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.4213 p.S1405T 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 51 0 0.00 34 6 15.00 MED25 0 genome.wustl.edu 37 19 50333113 50333113 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 50333113 50333113 C - DEL MED25 ENST00000312865 human ensembl 74_37 +1 known frame_shift_del c.596 p.P201fs 0.380 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 tier1 52 0 0.00 52 17 24.64 MEDAG 0 genome.wustl.edu 37 13 31480852 31480852 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 31480852 31480852 G - DEL MEDAG ENST00000380482 human ensembl 74_37 +1 known frame_shift_del c.200 p.G69fs 0.590 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 tier1 10 0 0.00 5 5 50.00 MEFV 0 genome.wustl.edu 37 16 3304660 3304660 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 3304660 3304660 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.408 p.G136 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 tier1 - - 41 0 0.00 25 8 24.24 MEGF6 0 genome.wustl.edu 37 1 3410403 3410404 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 3410403 3410404 - C INS MEGF6 ENST00000356575 human ensembl 74_37 -1 known frame_shift_ins c.4319_4318 p.A1440fs 0.000:0.000 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 tier1 66 0 0.00 40 23 36.51 MEGF8 0 genome.wustl.edu 37 19 42840447 42840447 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 42840447 42840447 C - DEL MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_del c.1193 p.S400fs 0.982 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 67 0 0.00 51 9 15.00 MEIOB 0 genome.wustl.edu 37 16 1918176 1918176 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 1918176 1918176 T - DEL MEIOB ENST00000325962 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL superfamily_NA-bd_OB-fold - no_errors MEIOB HGNC ENSG00000162039 tier1 63 0 0.00 59 20 25.32 MESP2 0 genome.wustl.edu 37 15 90320197 90320197 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 90320197 90320197 G A SNP MESP2 ENST00000341735 human ensembl 74_37 +1 known silent c.609 p.G203 0.122 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MESP2 HGNC ENSG00000188095 12 0 0.00 5 7 58.33 METTL14 0 genome.wustl.edu 37 4 119626837 119626837 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 119626837 119626837 T C SNP METTL14 ENST00000388822 human ensembl 74_37 +1 known silent c.927 p.V309 0.436 pfam_MT-A70-like,pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 tier1 - - 61 0 0.00 44 5 10.20 METTL22 0 genome.wustl.edu 37 16 8729076 8729076 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 8729076 8729076 C A SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known missense c.607 p.L203I 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 tier1 - - 39 0 0.00 29 7 19.44 METTL25 0 genome.wustl.edu 37 12 82792803 82792803 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 82792803 82792803 A G SNP METTL25 ENST00000248306 human ensembl 74_37 +1 known missense c.761 p.N254S 0.000 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 31 0 0.00 26 4 13.33 MFF 0 genome.wustl.edu 37 2 228195474 228195474 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 228195474 228195474 G A SNP MFF ENST00000353339 human ensembl 74_37 +1 known silent c.171 p.P57 0.960 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 48 0 0.00 35 3 7.89 MFI2 0 genome.wustl.edu 37 3 196737650 196737650 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 196737650 196737650 C T SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.1249 p.A417T 0.023 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 tier1 rs151109969 - 138 0 0.00 125 22 14.86 MFN2 0 genome.wustl.edu 37 1 12062115 12062115 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 12062115 12062115 T A SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.1115 p.V372D 0.465 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 tier1 - - 72 0 0.00 47 19 28.79 MFSD12 0 genome.wustl.edu 37 19 3544900 3544900 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 3544900 3544900 G T SNP MFSD12 ENST00000398558 human ensembl 74_37 -1 known missense c.1327 p.H443N 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 tier1 - - 44 0 0.00 24 12 33.33 MFSD3 0 genome.wustl.edu 37 8 145736024 145736024 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 145736024 145736024 G - DEL MFSD3 ENST00000301327 human ensembl 74_37 +1 known frame_shift_del c.874 p.G293fs 0.955 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD3 HGNC ENSG00000167700 tier1 61 0 0.00 60 8 11.76 MGAT4B 0 genome.wustl.edu 37 5 179225976 179225976 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 179225976 179225976 G A SNP MGAT4B ENST00000337755 human ensembl 74_37 -1 known missense c.1340 p.A447V 0.992 NULL pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 tier1 - - 51 0 0.00 26 11 28.95 MGAT5B 0 genome.wustl.edu 37 17 74936521 74936521 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 74936521 74936521 C 0 DEL MGAT5B ENST00000428789 human ensembl 74_37 +1 known frame_shift_del c.1649 p.L552fs 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 37 0 0.00 33 5 13.16 MGRN1 0 genome.wustl.edu 37 16 4727318 4727318 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 4727318 4727318 A - DEL MGRN1 ENST00000588015 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MGRN1 HGNC ENSG00000102858 tier1 19 0 0.00 20 7 25.93 MICAL1 0 genome.wustl.edu 37 6 109767434 109767434 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 109767434 109767434 G T SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.2543 p.P848H 0.155 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 tier1 - - 176 0 0.00 124 41 24.85 MICU3 0 genome.wustl.edu 37 8 16948074 16948074 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 16948074 16948074 A G SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known missense c.869 p.Y290C 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 tier1 - - 63 0 0.00 78 15 16.13 MIER2 0 genome.wustl.edu 37 19 308584 308584 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 308584 308584 C T SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known missense c.1191 p.M397I 0.001 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 tier1 - - 98 0 0.00 80 13 13.98 MIR1208 0 genome.wustl.edu 37 8 129162390 129162390 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 129162390 129162390 G A SNP MIR1208 ENST00000408334 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors MIR1208 HGNC ENSG00000221261 tier1 - - 35 0 0.00 17 8 32.00 MIR1289-1 0 genome.wustl.edu 37 20 34041840 34041840 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 34041840 34041840 G A SNP MIR1289-1 ENST00000408836 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors MIR1289-1 HGNC ENSG00000221763 tier1 - - 67 0 0.00 40 6 13.04 MIR1293 0 genome.wustl.edu 37 12 50627995 50627997 + RNA DEL TTT TTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 50627995 50627997 TTT - DEL MIR1293 ENST00000408677 human ensembl 74_37 -1 known rna NULL NULL 0.541:0.545:0.544 - - - no_errors MIR1293 HGNC ENSG00000221604 tier1 64 0 0.00 51 8 13.56 MIR22HG 0 genome.wustl.edu 37 17 1615614 1615614 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 1615614 1615614 A G SNP MIR22HG ENST00000334146 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MIR22HG HGNC ENSG00000186594 tier1 - - 46 0 0.00 38 15 28.30 MIR3131 0 genome.wustl.edu 37 2 219923425 219923425 + RNA SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 219923425 219923425 C G SNP MIR3131 ENST00000583592 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MIR3131 HGNC ENSG00000264755 tier1 - - 59 0 0.00 54 19 26.03 MIR411 0 genome.wustl.edu 37 14 101489709 101489709 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 101489709 101489709 A G SNP MIR411 ENST00000362239 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR411 HGNC ENSG00000199109 tier1 - - 47 0 0.00 39 14 26.42 MIR4639 0 genome.wustl.edu 37 6 16141811 16141811 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 16141811 16141811 T C SNP MIR4639 ENST00000584938 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR4639 HGNC ENSG00000263712 tier1 - - 24 0 0.00 11 4 26.67 MIR497HG 0 genome.wustl.edu 37 17 6921298 6921298 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 6921298 6921298 A G SNP MIR497HG ENST00000385056 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR497HG HGNC ENSG00000267532 tier1 - - 49 0 0.00 20 9 31.03 MIR503HG 0 genome.wustl.edu 37 X 133680601 133680601 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 133680601 133680601 G A SNP MIR503HG ENST00000414769 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR503HG HGNC ENSG00000223749 tier1 - - 88 0 0.00 44 9 16.98 MIR620 0 genome.wustl.edu 37 12 116586414 116586415 + RNA INS - - TA TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 116586414 116586415 - TA INS MIR620 ENST00000385232 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR620 HGNC ENSG00000207967 tier1 73 0 0.00 50 8 13.79 MIR637 0 genome.wustl.edu 37 19 3961429 3961429 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 3961429 3961429 G A SNP MIR637 ENST00000385000 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR637 HGNC ENSG00000207733 tier1 - - 97 0 0.00 93 5 5.10 MIR758 0 genome.wustl.edu 37 14 101492444 101492444 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 101492444 101492444 C - DEL MIR758 ENST00000390227 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR758 HGNC ENSG00000211582 tier1 47 0 0.00 27 12 30.77 MKI67IP 0 genome.wustl.edu 37 2 122486069 122486069 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 122486069 122486069 G A SNP MKI67IP ENST00000285814 human ensembl 74_37 -1 known missense c.608 p.T203M 0.000 NULL pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 tier1 - - 42 0 0.00 33 17 34.00 MKL2 0 genome.wustl.edu 37 16 14346300 14346300 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 14346300 14346300 C - DEL MKL2 ENST00000341243 human ensembl 74_37 +1 known frame_shift_del c.2611 p.R873fs 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 tier1 50 0 0.00 36 6 14.29 MKLN1 0 genome.wustl.edu 37 7 131172537 131172538 + RNA INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 131172537 131172538 - T INS MKLN1 ENST00000498778 human ensembl 74_37 +1 known rna NULL NULL 0.734:0.731 - - - no_errors MKLN1 HGNC ENSG00000128585 tier1 61 0 0.00 31 4 11.43 MLLT4 0 genome.wustl.edu 37 6 168347574 168347574 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 168347574 168347574 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known silent c.3525 p.N1175 0.944 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 tier1 - - 63 0 0.00 66 5 7.04 MLXIP 0 genome.wustl.edu 37 12 122618567 122618567 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 122618567 122618567 C - DEL MLXIP ENST00000377037 human ensembl 74_37 +1 known frame_shift_del c.535 p.D181fs 0.000 NULL NULL - no_errors MLXIP HGNC ENSG00000175727 tier1 60 0 0.00 38 7 15.56 MMP1 0 genome.wustl.edu 37 11 102666262 102666262 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 102666262 102666262 A G SNP MMP1 ENST00000315274 human ensembl 74_37 -1 known silent c.702 p.A234 0.933 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP1 HGNC ENSG00000196611 tier1 - - 50 0 0.00 33 13 28.26 MMP8 0 genome.wustl.edu 37 11 102586163 102586163 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 102586163 102586163 A T SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.908 p.F303Y 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 tier1 - - 29 0 0.00 32 4 11.11 MMP9 0 genome.wustl.edu 37 20 44640819 44640819 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 44640819 44640819 C T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known silent c.1041 p.C347 0.998 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 tier1 - - 41 0 0.00 26 10 27.03 MMS22L 0 genome.wustl.edu 37 6 97676826 97676826 + Silent SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 97676826 97676826 T A SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known silent c.1983 p.R661 0.997 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 tier1 - - 42 0 0.00 42 8 16.00 MOB1A 0 genome.wustl.edu 37 2 74392409 74392409 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 74392409 74392409 A G SNP MOB1A ENST00000396049 human ensembl 74_37 -1 known silent c.345 p.I115 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB1A HGNC ENSG00000114978 tier1 - - 73 0 0.00 32 16 33.33 MOCS2 0 genome.wustl.edu 37 5 52394449 52394449 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 52394449 52394449 A - DEL MOCS2 ENST00000396954 human ensembl 74_37 -1 known frame_shift_del c.550 p.W184fs 1.000 superfamily_Mopterin_biosynth_MoaE pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE - no_errors MOCS2 HGNC ENSG00000164172 tier1 50 0 0.00 54 15 21.74 MORC1 0 genome.wustl.edu 37 3 108773580 108773580 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 108773580 108773580 C T SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.1325 p.G442D 0.909 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 48 0 0.00 40 9 18.37 MORC1 0 genome.wustl.edu 37 3 108812346 108812346 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 108812346 108812346 C A SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.626 p.G209V 1.000 superfamily_HATPase_ATP-bd pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 39 0 0.00 28 12 30.00 MOSPD1 0 genome.wustl.edu 37 X 134033227 134033228 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 134033227 134033228 TT - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors MOSPD1 HGNC ENSG00000101928 tier1 78 0 0.00 33 15 31.25 MPND 0 genome.wustl.edu 37 19 4357332 4357332 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 4357332 4357332 T C SNP MPND ENST00000262966 human ensembl 74_37 +1 known missense c.1079 p.L360P 1.000 pfam_JAB_MPN_dom pfam_JAB_MPN_dom - no_errors MPND HGNC ENSG00000008382 58 0 0.00 40 3 6.98 MPP5 0 genome.wustl.edu 37 14 67787969 67787969 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 67787969 67787969 G A SNP MPP5 ENST00000261681 human ensembl 74_37 +1 known missense c.1733 p.R578H 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP5 HGNC ENSG00000072415 tier1 - - 52 0 0.00 54 14 20.59 MPP6 0 genome.wustl.edu 37 7 24718836 24718836 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 24718836 24718836 G T SNP MPP6 ENST00000222644 human ensembl 74_37 +1 known missense c.1201 p.A401S 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP6 HGNC ENSG00000105926 tier1 - - 77 0 0.00 77 10 11.49 MPPED1 0 genome.wustl.edu 37 22 43870648 43870648 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 43870648 43870648 G A SNP MPPED1 ENST00000538182 human ensembl 74_37 +1 known missense c.538 p.A180T 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 tier1 - - 39 0 0.00 14 10 41.67 MPV17L2 0 genome.wustl.edu 37 19 18305819 18305819 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 18305819 18305819 C 0 DEL MPV17L2 ENST00000599612 human ensembl 74_37 +1 known frame_shift_del c.487 p.Q165fs 1.000 pfam_Mpv17_PMP22 pfam_Mpv17_PMP22 - no_errors MPV17L2 HGNC ENSG00000254858 90 0 0.00 76 8 9.52 MRGPRX1 0 genome.wustl.edu 37 11 18956334 18956334 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 18956334 18956334 T C SNP MRGPRX1 ENST00000526914 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors MRGPRX1 HGNC ENSG00000170255 tier1 - - 107 0 0.00 74 32 29.91 MRGPRX3 0 genome.wustl.edu 37 11 18159395 18159395 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 18159395 18159395 G A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.646 p.V216M 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 69 0 0.00 50 12 19.35 MRI1 0 genome.wustl.edu 37 19 13879210 13879210 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 13879210 13879210 A G SNP MRI1 ENST00000319545 human ensembl 74_37 +1 known missense c.409 p.T137A 0.006 NULL pfam_IF-2B-related,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 tier1 - - 60 0 0.00 44 10 18.52 MROH2B 0 genome.wustl.edu 37 5 41038980 41038981 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 41038980 41038981 - A INS MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_ins c.2072_2071 p.S691fs 0.999:0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 23 0 0.00 16 6 27.27 MROH7-TTC4 0 genome.wustl.edu 37 1 55118660 55118660 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 55118660 55118660 C - DEL MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known frame_shift_del c.61 p.S23fs 0.001 NULL superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 tier1 28 0 0.00 24 6 20.00 MROH7-TTC4 0 genome.wustl.edu 37 1 55136582 55136582 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 55136582 55136582 G T SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.1579 p.A527S 0.358 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 tier1 - - 17 0 0.00 18 7 28.00 MRPL37 0 genome.wustl.edu 37 1 54670828 54670828 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 54670828 54670828 C T SNP MRPL37 ENST00000360840 human ensembl 74_37 +1 known missense c.484 p.R162C 0.984 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC ENSG00000116221 tier1 rs201357587 - 43 0 0.00 23 9 28.12 MRPL4 0 genome.wustl.edu 37 19 10369991 10369991 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10369991 10369991 G A SNP MRPL4 ENST00000393733 human ensembl 74_37 +1 putative missense c.883 p.A295T 0.000 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 tier1 - - 46 0 0.00 31 10 24.39 MRPL4 0 genome.wustl.edu 37 19 10370444 10370445 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10370444 10370445 0 C INS MRPL4 ENST00000253099 human ensembl 74_37 +1 known frame_shift_ins c.891_892 p.H298fs 0.000:0.001 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 111 0 0.00 96 8 7.69 MRPL45 0 genome.wustl.edu 37 17 36455359 36455359 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 36455359 36455359 G A SNP MRPL45 ENST00000312513 human ensembl 74_37 +1 known missense c.287 p.R96H 0.912 NULL pfam_Tim44-like_dom,smart_Tim44-like_dom - no_errors MRPL45 HGNC ENSG00000174100 tier1 rs201673456 - 54 0 0.00 57 5 8.06 MRPS27 0 genome.wustl.edu 37 5 71528293 71528293 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 71528293 71528293 G T SNP MRPS27 ENST00000513900 human ensembl 74_37 -1 known missense c.610 p.L204M 1.000 pfam_Ribosomal_S27_mit pfam_Ribosomal_S27_mit - no_errors MRPS27 HGNC ENSG00000113048 tier1 - - 41 0 0.00 23 3 11.54 MRRF 0 genome.wustl.edu 37 9 125047541 125047541 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 125047541 125047541 T C SNP MRRF ENST00000344641 human ensembl 74_37 +1 known missense c.434 p.L145S 1.000 pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom - no_errors MRRF HGNC ENSG00000148187 34 0 0.00 36 3 7.69 MRTO4 0 genome.wustl.edu 37 1 19585041 19585041 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 19585041 19585041 C T SNP MRTO4 ENST00000330263 human ensembl 74_37 +1 known silent c.564 p.R188 0.000 NULL pfam_Ribosomal_L10/acidic_P0 - no_errors MRTO4 HGNC ENSG00000053372 tier1 - - 69 0 0.00 29 18 38.30 MSH6 0 genome.wustl.edu 37 2 48032796 48032796 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 48032796 48032796 G A SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.3596 p.S1199N 1.000 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 - - 187 0 0.00 137 28 16.97 MSI1 0 genome.wustl.edu 37 12 120795666 120795666 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 120795666 120795666 C T SNP MSI1 ENST00000257552 human ensembl 74_37 -1 known missense c.487 p.V163M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI1 HGNC ENSG00000135097 tier1 - - 25 0 0.00 20 8 28.57 MSL1 0 genome.wustl.edu 37 17 38282534 38282535 + Frame_Shift_Del DEL AG AG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 38282534 38282535 AG - DEL MSL1 ENST00000398532 human ensembl 74_37 +1 known frame_shift_del c.867_868 p.E292fs 1.000:1.000 NULL NULL - no_errors MSL1 HGNC ENSG00000188895 tier1 53 0 0.00 38 20 34.48 MSL3 0 genome.wustl.edu 37 X 11783863 11783863 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 11783863 11783863 G A SNP MSL3 ENST00000337339 human ensembl 74_37 +1 known missense c.1186 p.G396R 0.000 NULL pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 tier1 - - 45 0 0.00 31 5 13.89 MSLNL 0 genome.wustl.edu 37 16 830602 830602 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 830602 830602 C T SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known silent c.399 p.A133 0.000 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 tier1 - - 80 0 0.00 64 14 17.95 MSR1 0 genome.wustl.edu 37 8 15978079 15978079 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 15978079 15978079 C T SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.1070 p.G357D 0.621 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 44 0 0.00 48 6 11.11 MST1R 0 genome.wustl.edu 37 3 49932626 49932626 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 49932626 49932626 G A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.3245 p.T1082I 0.302 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 - - 26 0 0.00 34 4 10.53 MST1R 0 genome.wustl.edu 37 3 49935496 49935496 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 49935496 49935496 C T SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.1868 p.S623N 0.025 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 32 0 0.00 31 3 8.82 MSTO1 0 genome.wustl.edu 37 1 155583470 155583470 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 155583470 155583470 C T SNP MSTO1 ENST00000245564 human ensembl 74_37 +1 known missense c.1411 p.P471S 0.937 NULL pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 tier1 - - 63 0 0.00 46 13 22.03 MT-ND5 0 genome.wustl.edu 37 MT 13339 13339 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 MT 13339 13339 T C SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1003 p.F335L NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 29 0 0.00 8 2 20.00 MTA1 0 genome.wustl.edu 37 14 105929561 105929561 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 105929561 105929561 A G SNP MTA1 ENST00000331320 human ensembl 74_37 +1 known missense c.983 p.Y328C 1.000 superfamily_Homeodomain-like,smart_SANT/Myb 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 MTA1 HGNC ENSG00000182979 tier1 - - 55 0 0.00 29 17 36.96 MTA1 0 genome.wustl.edu 37 14 105936238 105936239 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 105936238 105936239 - G INS MTA1 ENST00000331320 human ensembl 74_37 +1 known frame_shift_ins c.1906_1907 p.S639fs 0.998:0.999 NULL 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 MTA1 HGNC ENSG00000182979 tier1 84 0 0.00 71 18 20.22 MTERFD1 0 genome.wustl.edu 37 8 97263175 97263176 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 97263175 97263176 - T INS MTERFD1 ENST00000287025 human ensembl 74_37 -1 known frame_shift_ins c.636_635 p.N212fs 0.917:1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD1 HGNC ENSG00000156469 tier1 71 0 0.00 65 27 29.35 MTF2 0 genome.wustl.edu 37 1 93602676 93602677 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 93602676 93602677 AA - DEL MTF2 ENST00000467953 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors MTF2 HGNC ENSG00000143033 tier1 71 0 0.00 78 28 26.42 MTIF2 0 genome.wustl.edu 37 2 55476628 55476628 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 55476628 55476628 G A SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.884 p.A295V 1.000 pfam_EF_GTP-bd_dom,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 tier1 - - 71 0 0.00 62 20 24.39 MTO1 0 genome.wustl.edu 37 6 74183265 74183265 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 74183265 74183265 G A SNP MTO1 ENST00000415954 human ensembl 74_37 +1 known missense c.713 p.G238E 1.000 pfam_GIDA-rel,tigrfam_GidA pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC ENSG00000135297 tier1 - - 130 0 0.00 70 6 7.89 MTR 0 genome.wustl.edu 37 1 236972027 236972027 + Silent SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 236972027 236972027 T G SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.363 p.S121 0.994 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 49 0 0.00 47 6 11.32 MTR 0 genome.wustl.edu 37 1 236972037 236972037 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 236972037 236972037 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.373 p.A125T 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 48 0 0.00 44 6 12.00 MTR 0 genome.wustl.edu 37 1 237058730 237058730 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 237058730 237058730 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.3478 p.V1160I 0.000 pfam_VitB12-dep_Met_synth_activ_dom,superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 41 0 0.00 18 4 18.18 MTR 0 genome.wustl.edu 37 1 237060946 237060948 + RNA DEL TTT TTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 237060946 237060948 TTT - DEL MTR ENST00000470570 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.006 - - - no_errors MTR HGNC ENSG00000116984 tier1 54 0 0.00 35 8 18.60 MTSS1 0 genome.wustl.edu 37 8 125570136 125570136 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 125570136 125570136 G - DEL MTSS1 ENST00000520094 human ensembl 74_37 -1 known rna NULL NULL 0.048 - - - no_errors MTSS1 HGNC ENSG00000170873 tier1 79 0 0.00 46 26 36.11 MTTP 0 genome.wustl.edu 37 4 100543977 100543977 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 100543977 100543977 C T SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.2657 p.P886L 0.010 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 rs144600401 - 77 0 0.00 33 14 29.79 MUC12 0 genome.wustl.edu 37 7 100638855 100638855 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 100638855 100638855 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.5011 p.H1671Y 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 91 0 0.00 66 14 17.50 MUC15 0 genome.wustl.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 26587427 26587427 T 0 DEL MUC15 ENST00000436318 human ensembl 74_37 -1 known frame_shift_del c.60 p.K20fs 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 52 0 0.00 25 7 21.88 MUC4 0 genome.wustl.edu 37 3 195509046 195509046 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 195509046 195509046 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.9405 p.T3135 0.058 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 138 0 0.00 126 23 15.44 MUC4 0 genome.wustl.edu 37 3 195510046 195510046 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 195510046 195510046 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.8405 p.P2802H 0.028 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 22 0 0.00 8 2 15.38 MUC5B 0 genome.wustl.edu 37 11 1273604 1273604 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 1273604 1273604 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.14904 p.A4968 0.219 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 tier1 - - 54 0 0.00 41 12 22.64 MUTYH 0 genome.wustl.edu 37 1 45797165 45797165 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 45797165 45797165 C T SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.1250 p.R417H 0.000 superfamily_NUDIX_hydrolase_dom-like pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 tier1 - - 55 0 0.00 29 14 32.56 MX2 0 genome.wustl.edu 37 21 42749721 42749721 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 42749721 42749721 C T SNP MX2 ENST00000330714 human ensembl 74_37 +1 known silent c.255 p.P85 0.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX2 HGNC ENSG00000183486 tier1 - - 57 0 0.00 28 7 20.00 MYBPH 0 genome.wustl.edu 37 1 203141132 203141132 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 203141132 203141132 T C SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known missense c.545 p.Q182R 1.000 superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 tier1 - - 61 0 0.00 60 7 10.45 MYCBP 0 genome.wustl.edu 37 1 39340002 39340003 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 39340002 39340003 AA - DEL MYCBP ENST00000462027 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MYCBP HGNC ENSG00000214114 tier1 8 0 0.00 5 3 37.50 MYCBP2 0 genome.wustl.edu 37 13 77764414 77764414 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 77764414 77764414 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.4127 p.A1376V 1.000 pfam_PHR,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 53 0 0.00 19 5 20.83 MYCBP2 0 genome.wustl.edu 37 13 77842008 77842008 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 77842008 77842008 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.1325 p.T442I 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 59 0 0.00 53 6 10.17 MYD88 0 genome.wustl.edu 37 3 38182018 38182018 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 38182018 38182018 C T SNP MYD88 ENST00000417037 human ensembl 74_37 +1 known silent c.642 p.G214 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 tier1 - - 62 0 0.00 48 19 28.36 MYH11 0 genome.wustl.edu 37 16 15815323 15815323 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 15815323 15815323 C T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.4555 p.E1519K 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 tier1 - - 80 0 0.00 46 17 26.98 MYH14 0 genome.wustl.edu 37 19 50784954 50784954 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 50784954 50784954 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.4394 p.R1465H 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,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 24 0 0.00 15 3 16.67 MYH2 0 genome.wustl.edu 37 17 10429940 10429940 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 10429940 10429940 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.4163 p.R1388H 1.000 pfam_Myosin_tail,superfamily_Ribosomal_L29 pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,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 tier1 - - 92 0 0.00 76 4 5.00 MYH3 0 genome.wustl.edu 37 17 10546239 10546239 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 10546239 10546239 G A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.1485 p.F495 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 227 0 0.00 146 59 28.78 MYH3 0 genome.wustl.edu 37 17 10546312 10546312 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 10546312 10546312 T A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.1412 p.Y471F 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 143 0 0.00 114 14 10.94 MYH3 0 genome.wustl.edu 37 17 10543993 10543993 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 10543993 10543993 G T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.2176 p.L726M 0.901 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 44 0 0.00 24 3 11.11 MYH4 0 genome.wustl.edu 37 17 10348449 10348449 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 10348449 10348449 A G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.5310 p.A1770 0.010 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 116 0 0.00 90 33 26.83 MYH6 0 genome.wustl.edu 37 14 23859522 23859522 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 23859522 23859522 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.3476 p.T1159M 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 47 0 0.00 47 10 17.54 MYH6 0 genome.wustl.edu 37 14 23862717 23862717 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 23862717 23862717 A G SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.2939 p.L980P 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 60 0 0.00 48 6 11.11 MYH7 0 genome.wustl.edu 37 14 23891440 23891440 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 23891440 23891440 C A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.3194 p.S1065I 1.000 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,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 MYH7 HGNC ENSG00000092054 tier1 - - 79 0 0.00 68 14 17.07 MYH7B 0 genome.wustl.edu 37 20 33587382 33587382 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 33587382 33587382 A G SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.4675 p.S1559G 0.998 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 55 0 0.00 52 4 7.14 MYH8 0 genome.wustl.edu 37 17 10309410 10309410 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 10309410 10309410 C T SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.2380 p.V794I 0.114 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 tier1 - - 53 0 0.00 42 10 19.23 MYH8 0 genome.wustl.edu 37 17 10318470 10318470 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 10318470 10318470 A G SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.768 p.G256 0.725 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 60 0 0.00 51 4 7.27 MYL9 0 genome.wustl.edu 37 20 35176560 35176560 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 35176560 35176560 C T SNP MYL9 ENST00000279022 human ensembl 74_37 +1 known missense c.310 p.R104C 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL9 HGNC ENSG00000101335 tier1 - - 67 0 0.00 48 5 9.43 MYLK 0 genome.wustl.edu 37 3 123419012 123419012 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 123419012 123419012 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known silent c.3303 p.K1101 0.929 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 tier1 - - 35 0 0.00 29 7 19.44 MYLK 0 genome.wustl.edu 37 3 123453042 123453042 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 123453042 123453042 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known silent c.801 p.T267 0.001 NULL pfam_Ig_I-set,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 tier1 - - 22 0 0.00 15 4 21.05 MYLK 0 genome.wustl.edu 37 3 123451928 123451928 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 123451928 123451928 T C SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.1331 p.E444G 0.010 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 21 0 0.00 25 3 10.71 MYO15A 0 genome.wustl.edu 37 17 18058717 18058717 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 18058717 18058717 C T SNP MYO15A ENST00000585180 human ensembl 74_37 +1 putative missense c.217 p.R73W 0.000 NULL NULL - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 72 0 0.00 44 18 29.03 MYO15B 0 genome.wustl.edu 37 17 73621202 73621202 + Splice_Site SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 73621202 73621202 G T SNP MYO15B ENST00000577948 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors MYO15B HGNC ENSG00000266714 tier1 - - 34 0 0.00 30 5 14.29 MYO16 0 genome.wustl.edu 37 13 109496836 109496836 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 109496836 109496836 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.1177 p.E393K 0.998 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,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 tier1 - - 50 0 0.00 30 5 14.29 MYO16 0 genome.wustl.edu 37 13 109792756 109792756 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 109792756 109792756 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.4130 p.A1377V 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,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 tier1 - - 50 0 0.00 43 10 18.87 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 tier1 66 0 0.00 48 8 14.29 MYO3A 0 genome.wustl.edu 37 10 26455081 26455081 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 26455081 26455081 G A SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3085 p.D1029N 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 rs56403976 - 66 0 0.00 56 28 33.33 MYO5B 0 genome.wustl.edu 37 18 47500881 47500881 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 47500881 47500881 G T SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known silent c.1161 p.T387 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 34 0 0.00 36 3 7.69 MYO5C 0 genome.wustl.edu 37 15 52504030 52504030 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 52504030 52504030 T C SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.4193 p.H1398R 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 60 0 0.00 46 3 6.12 MYO7A 0 genome.wustl.edu 37 11 76867057 76867058 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 76867057 76867058 - C INS MYO7A ENST00000409709 human ensembl 74_37 +1 known frame_shift_ins c.390_391 p.H132fs 1.000:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 tier1 57 0 0.00 36 10 21.74 MYO7A 0 genome.wustl.edu 37 11 76890120 76890120 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 76890120 76890120 C T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.2312 p.A771V 0.789 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 tier1 - - 30 0 0.00 18 4 18.18 MYO9B 0 genome.wustl.edu 37 19 17312772 17312772 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 17312772 17312772 G A SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.4601 p.S1534N 0.983 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,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 24 0 0.00 20 3 13.04 MYOM3 0 genome.wustl.edu 37 1 24433677 24433677 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 24433677 24433677 C A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.291 p.E97D 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 tier1 - - 54 0 0.00 37 11 22.92 MYOT 0 genome.wustl.edu 37 5 137216556 137216557 + Splice_Site INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 137216556 137216557 - A INS MYOT ENST00000239926 human ensembl 74_37 +1 known splice_site_ins c.683+2_683+1 e4+2 1.000:1.000 - - - no_errors MYOT HGNC ENSG00000120729 tier1 33 0 0.00 29 4 12.12 MYOZ2 0 genome.wustl.edu 37 4 120107300 120107300 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 120107300 120107300 T C SNP MYOZ2 ENST00000307128 human ensembl 74_37 +1 known missense c.740 p.V247A 0.934 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ2 HGNC ENSG00000172399 tier1 - - 33 0 0.00 32 7 17.95 MYPOP 0 genome.wustl.edu 37 19 46404933 46404933 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 46404933 46404933 G A SNP MYPOP ENST00000322217 human ensembl 74_37 -1 known silent c.99 p.R33 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYPOP HGNC ENSG00000176182 tier1 - - 107 0 0.00 51 30 37.04 MYRF 0 genome.wustl.edu 37 11 61543873 61543873 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 61543873 61543873 C T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.1468 p.R490C 1.000 pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 tier1 - - 54 0 0.00 37 5 11.90 MYT1 0 genome.wustl.edu 37 20 62871697 62871697 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 62871697 62871697 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.3343 p.D1115N 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 39 0 0.00 29 4 12.12 MYT1L 0 genome.wustl.edu 37 2 1893213 1893213 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 1893213 1893213 C A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.2320 p.D774Y 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 58 0 0.00 21 13 38.24 MZT2B 0 genome.wustl.edu 37 2 130941391 130941391 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 130941391 130941391 C 0 DEL MZT2B ENST00000409255 human ensembl 74_37 +1 novel frame_shift_del c.351 p.P119fs 0.986 NULL NULL - no_errors MZT2B HGNC ENSG00000152082 83 0 0.00 54 6 10.00 NAA15 0 genome.wustl.edu 37 4 140291445 140291445 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 140291445 140291445 A - DEL NAA15 ENST00000296543 human ensembl 74_37 +1 known frame_shift_del c.1834 p.N614fs 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 tier1 48 0 0.00 49 14 22.22 NAB2 0 genome.wustl.edu 37 12 57485734 57485734 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 57485734 57485734 C T SNP NAB2 ENST00000300131 human ensembl 74_37 +1 known missense c.910 p.R304C 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 tier1 - - 48 0 0.00 29 9 23.68 NACA 0 genome.wustl.edu 37 12 57110462 57110462 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 57110462 57110462 C T SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.4852 p.A1618T 0.001 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 tier1 - - 62 0 0.00 69 18 20.69 NACC1 0 genome.wustl.edu 37 19 13246434 13246434 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 13246434 13246434 C T SNP NACC1 ENST00000292431 human ensembl 74_37 +1 known missense c.413 p.A138V 1.000 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 tier1 - - 63 0 0.00 35 7 16.67 NADK 0 genome.wustl.edu 37 1 1687725 1687725 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 1687725 1687725 G A SNP NADK ENST00000344463 human ensembl 74_37 -1 known missense c.992 p.T331M 1.000 pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 tier1 - - 45 0 0.00 39 6 13.33 NALCN 0 genome.wustl.edu 37 13 101833385 101833385 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 101833385 101833385 C T SNP NALCN ENST00000470333 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors NALCN HGNC ENSG00000102452 tier1 - - 21 0 0.00 7 4 36.36 NAP1L3 0 genome.wustl.edu 37 X 92927880 92927880 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 92927880 92927880 G T SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.424 p.P142T 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 tier1 - - 61 0 0.00 29 4 12.12 NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 102760123 102760123 A - DEL NAPEPLD ENST00000455523 human ensembl 74_37 -1 known frame_shift_del c.1061 p.F354fs 1.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 tier1 54 0 0.00 60 8 11.76 NARFL 0 genome.wustl.edu 37 16 780264 780264 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 780264 780264 G A SNP NARFL ENST00000562862 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NARFL HGNC ENSG00000103245 tier1 - - 42 0 0.00 27 12 30.77 NAT9 0 genome.wustl.edu 37 17 72768238 72768238 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 72768238 72768238 C A SNP NAT9 ENST00000580632 human ensembl 74_37 -1 novel missense c.350 p.G117V 0.000 superfamily_Acyl_CoA_acyltransferase superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 tier1 - - 55 0 0.00 31 15 32.61 NAV2-AS1 0 genome.wustl.edu 37 11 20141368 20141369 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 20141368 20141369 AA - DEL NAV2-AS1 ENST00000526642 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors NAV2-AS1 HGNC ENSG00000254894 tier1 36 0 0.00 25 4 13.79 NAV3 0 genome.wustl.edu 37 12 78513542 78513542 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 78513542 78513542 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.3566 p.S1189L 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 55 0 0.00 39 14 26.42 NBAS 0 genome.wustl.edu 37 2 15614272 15614272 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 15614272 15614272 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known silent c.1518 p.R506 0.997 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 - - 82 0 0.00 70 11 13.58 NBAS 0 genome.wustl.edu 37 2 15694247 15694248 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 15694247 15694248 - A INS NBAS ENST00000281513 human ensembl 74_37 -1 known frame_shift_ins c.225_224 p.L75fs 1.000:1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 136 0 0.00 111 46 29.30 NBEA 0 genome.wustl.edu 37 13 35644864 35644864 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 35644864 35644864 A C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.1446 p.K482N 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 170 0 0.00 120 47 27.98 NBEA 0 genome.wustl.edu 37 13 36158057 36158057 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 36158057 36158057 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.7058 p.K2353R 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 36 0 0.00 39 15 27.78 NBEAL1 0 genome.wustl.edu 37 2 204058623 204058623 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 204058623 204058623 T - DEL NBEAL1 ENST00000449802 human ensembl 74_37 +1 known frame_shift_del c.6940 p.F2315fs 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 tier1 39 0 0.00 41 11 21.15 NBEAL2 0 genome.wustl.edu 37 3 47040003 47040003 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 47040003 47040003 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.3169 p.R1057W 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 36 0 0.00 28 8 22.22 NBEAL2 0 genome.wustl.edu 37 3 47033032 47033032 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 47033032 47033032 T C SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.779 p.V260A 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 20 0 0.00 26 2 7.14 NBPF10 0 genome.wustl.edu 37 1 145299885 145299886 + Frame_Shift_Del DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 145299885 145299886 AA - DEL NBPF10 ENST00000342960 human ensembl 74_37 +1 known frame_shift_del c.934_935 p.K312fs 0.122:0.118 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 485 0 0.00 385 42 9.84 NBR1 0 genome.wustl.edu 37 17 41362035 41362035 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 41362035 41362035 A G SNP NBR1 ENST00000341165 human ensembl 74_37 +1 known missense c.2843 p.Q948R 1.000 superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 tier1 - - 79 0 0.00 68 4 5.56 NCAM1 0 genome.wustl.edu 37 11 113143814 113143814 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 113143814 113143814 G A SNP NCAM1 ENST00000528158 human ensembl 74_37 +1 putative rna NULL NULL 0.733 - - - no_errors NCAM1 HGNC ENSG00000149294 tier1 - - 96 0 0.00 62 14 18.42 NCAM1 0 genome.wustl.edu 37 11 113146392 113146392 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 113146392 113146392 G A SNP NCAM1 ENST00000397957 human ensembl 74_37 +1 known rna NULL NULL 0.972 - - - no_errors NCAM1 HGNC ENSG00000149294 tier1 - - 20 0 0.00 18 5 21.74 NCAM1 0 genome.wustl.edu 37 11 113147558 113147558 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 113147558 113147558 G - DEL NCAM1 ENST00000397957 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors NCAM1 HGNC ENSG00000149294 tier1 63 0 0.00 36 11 23.40 NCAPD2 0 genome.wustl.edu 37 12 6623452 6623452 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 6623452 6623452 C T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known silent c.609 p.Y203 1.000 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 tier1 - - 69 0 0.00 52 7 11.86 NCDN 0 genome.wustl.edu 37 1 36026864 36026864 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 36026864 36026864 C T SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.1112 p.A371V 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 tier1 - - 39 0 0.00 23 7 23.33 NCKAP1L 0 genome.wustl.edu 37 12 54910702 54910702 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 54910702 54910702 C T SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.1021 p.R341W 0.998 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 tier1 - - 92 0 0.00 62 35 36.08 NCOR2 0 genome.wustl.edu 37 12 124821385 124821385 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 124821385 124821385 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.6050 p.A2017V 0.365 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 35 0 0.00 29 9 23.68 NCOR2 0 genome.wustl.edu 37 12 124829303 124829303 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 124829303 124829303 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.4575 p.S1525 0.006 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 32 0 0.00 20 12 37.50 NDFIP1 0 genome.wustl.edu 37 5 141511526 141511526 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 141511526 141511526 A - DEL NDFIP1 ENST00000509436 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NDFIP1 HGNC ENSG00000131507 tier1 18 0 0.00 11 3 21.43 NDNF 0 genome.wustl.edu 37 4 121958469 121958469 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 121958469 121958469 G A SNP NDNF ENST00000379692 human ensembl 74_37 -1 known silent c.657 p.H219 1.000 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 tier1 - - 62 0 0.00 46 5 9.80 NDOR1 0 genome.wustl.edu 37 9 140110190 140110190 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 140110190 140110190 G - DEL NDOR1 ENST00000371521 human ensembl 74_37 +1 known frame_shift_del c.1368 p.P458fs 1.000 pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 tier1 88 0 0.00 64 16 20.00 NDUFA10 0 genome.wustl.edu 37 2 240923039 240923039 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 240923039 240923039 G A SNP NDUFA10 ENST00000307300 human ensembl 74_37 -1 novel silent c.1185 p.T395 0.001 NULL superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su - no_errors NDUFA10 HGNC ENSG00000130414 tier1 - - 47 0 0.00 22 8 26.67 NDUFA7 0 genome.wustl.edu 37 19 8386227 8386227 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 8386227 8386227 G A SNP NDUFA7 ENST00000301457 human ensembl 74_37 -1 known missense c.16 p.R6C 0.008 pfam_NADH-UbQ_OxRdtase_B14.5a_su pfam_NADH-UbQ_OxRdtase_B14.5a_su - no_errors NDUFA7 HGNC ENSG00000267855 tier1 - - 37 0 0.00 31 13 29.55 NEB 0 genome.wustl.edu 37 2 152544898 152544898 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 152544898 152544898 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.2323 p.A775S 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 57 0 0.00 59 4 6.25 NECAB1 0 genome.wustl.edu 37 8 91962099 91962100 + Frame_Shift_Ins INS - - GT TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 91962099 91962100 - GT INS NECAB1 ENST00000417640 human ensembl 74_37 +1 known frame_shift_ins c.925_926 p.W311fs 1.000:0.999 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 tier1 58 0 0.00 50 22 30.56 NEDD4 0 genome.wustl.edu 37 15 56122187 56122187 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 56122187 56122187 G T SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.3868 p.L1290M 0.743 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 tier1 - - 89 0 0.00 75 9 10.71 NEDD9 0 genome.wustl.edu 37 6 11191156 11191156 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 11191156 11191156 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.946 p.A316T 0.897 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 tier1 - - 38 0 0.00 35 4 10.26 NEIL1 0 genome.wustl.edu 37 15 75641538 75641538 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 75641538 75641538 C T SNP NEIL1 ENST00000355059 human ensembl 74_37 +1 known missense c.292 p.H98Y 1.000 pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 tier1 - - 91 0 0.00 44 25 35.71 NEIL3 0 genome.wustl.edu 37 4 178283532 178283532 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 178283532 178283532 T - DEL NEIL3 ENST00000264596 human ensembl 74_37 +1 known frame_shift_del c.1725 p.F577fs 0.884 pfam_Znf_GRF pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 tier1 66 0 0.00 44 11 20.00 NELFB 0 genome.wustl.edu 37 9 140166584 140166584 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 140166584 140166584 C T SNP NELFB ENST00000343053 human ensembl 74_37 +1 known missense c.1397 p.T466M 0.962 pfam_COBRA1 pfam_COBRA1 - no_errors NELFB HGNC ENSG00000188986 tier1 - - 58 0 0.00 46 8 14.81 NES 0 genome.wustl.edu 37 1 156640743 156640743 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156640743 156640743 G T SNP NES ENST00000368223 human ensembl 74_37 -1 known silent c.3237 p.S1079 0.001 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 57 0 0.00 45 8 15.09 NES 0 genome.wustl.edu 37 1 156641686 156641686 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156641686 156641686 C T SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.2294 p.R765Q 0.002 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 78 0 0.00 60 7 10.29 NEUROD1 0 genome.wustl.edu 37 2 182542972 182542972 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 182542972 182542972 G - DEL NEUROD1 ENST00000295108 human ensembl 74_37 -1 known frame_shift_del c.616 p.H206fs 0.996 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 tier1 52 0 0.00 38 6 13.64 NEUROG1 0 genome.wustl.edu 37 5 134870770 134870770 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 134870770 134870770 G A SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known missense c.611 p.A204V 0.164 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 tier1 - - 141 0 0.00 89 11 11.00 NEUROG1 0 genome.wustl.edu 37 5 134871227 134871227 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 134871227 134871227 C T SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known missense c.154 p.A52T 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 18 0 0.00 16 3 15.79 NEUROG3 0 genome.wustl.edu 37 10 71332488 71332488 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 71332488 71332488 G A SNP NEUROG3 ENST00000242462 human ensembl 74_37 -1 known silent c.312 p.D104 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG3 HGNC ENSG00000122859 tier1 - - 45 0 0.00 40 6 13.04 NEXN-AS1 0 genome.wustl.edu 37 1 78354426 78354426 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 78354426 78354426 G A SNP NEXN-AS1 ENST00000421331 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NEXN-AS1 HGNC ENSG00000235927 tier1 - - 156 0 0.00 134 28 17.28 NFASC 0 genome.wustl.edu 37 1 204923438 204923439 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 204923438 204923439 - G INS NFASC ENST00000367172 human ensembl 74_37 +1 known frame_shift_ins c.338_339 p.E115fs 1.000:1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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_dom - no_errors NFASC HGNC ENSG00000163531 tier1 72 0 0.00 63 8 11.27 NFASC 0 genome.wustl.edu 37 1 204939850 204939850 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 204939850 204939850 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known nonsense c.1110 p.W370* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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_dom - no_errors NFASC HGNC ENSG00000163531 tier1 - - 62 0 0.00 54 4 6.90 NFATC2 0 genome.wustl.edu 37 20 50139933 50139933 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 50139933 50139933 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.847 p.V283M 0.066 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 36 0 0.00 44 8 15.38 NFIB 0 genome.wustl.edu 37 9 14113047 14113047 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 14113047 14113047 C T SNP NFIB ENST00000397581 human ensembl 74_37 -1 known missense c.1445 p.R482Q 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 tier1 - - 37 0 0.00 50 5 9.09 NFIX 0 genome.wustl.edu 37 19 13186359 13186359 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 13186359 13186359 C T SNP NFIX ENST00000585575 human ensembl 74_37 +1 known missense c.805 p.R269C 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 72 0 0.00 55 4 6.78 NFKBIL1 0 genome.wustl.edu 37 6 31515510 31515510 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 31515510 31515510 C A SNP NFKBIL1 ENST00000376148 human ensembl 74_37 +1 known silent c.39 p.A13 1.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 tier1 - - 152 0 0.00 134 18 11.84 NHLH2 0 genome.wustl.edu 37 1 116380789 116380789 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 116380789 116380789 G A SNP NHLH2 ENST00000320238 human ensembl 74_37 -1 known missense c.205 p.R69C 1.000 pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NHLH2 HGNC ENSG00000177551 tier1 - - 50 0 0.00 25 11 30.56 NIPBL 0 genome.wustl.edu 37 5 36961634 36961634 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 36961634 36961634 G T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.407 p.S136I 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 73 0 0.00 55 4 6.78 NIPBL 0 genome.wustl.edu 37 5 36985453 36985453 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 36985453 36985453 C - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.2171 p.P725fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 23 0 0.00 16 5 23.81 NISCH 0 genome.wustl.edu 37 3 52514214 52514214 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 52514214 52514214 C T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.1431 p.S477 0.519 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 tier1 - - 61 0 0.00 39 11 22.00 NKD1 0 genome.wustl.edu 37 16 50667134 50667135 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 50667134 50667135 0 C INS NKD1 ENST00000268459 human ensembl 74_37 +1 known frame_shift_ins c.855_856 p.R287fs 1.000:1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 77 0 0.00 64 7 9.86 NKX2-1 0 genome.wustl.edu 37 14 36986897 36986897 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 36986897 36986897 G A SNP NKX2-1 ENST00000354822 human ensembl 74_37 -1 known silent c.792 p.G264 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC ENSG00000136352 59 0 0.00 37 8 17.78 NKX2-6 0 genome.wustl.edu 37 8 23563932 23563932 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 23563932 23563932 G A SNP NKX2-6 ENST00000325017 human ensembl 74_37 -1 known silent c.180 p.G60 0.002 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-6 HGNC ENSG00000180053 tier1 - - 155 0 0.00 127 37 22.56 NLE1 0 genome.wustl.edu 37 17 33462280 33462280 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 33462280 33462280 C A SNP NLE1 ENST00000442241 human ensembl 74_37 -1 known missense c.1202 p.G401V 0.999 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B - no_errors NLE1 HGNC ENSG00000073536 tier1 - - 56 0 0.00 57 7 10.94 NLGN3 0 genome.wustl.edu 37 X 70367609 70367609 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 70367609 70367609 C T SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.10 p.R4W 0.816 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 tier1 - - 56 0 0.00 25 18 41.86 NLRP2 0 genome.wustl.edu 37 19 55494830 55494830 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 55494830 55494830 C T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.1764 p.C588 0.001 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 tier1 - - 54 0 0.00 35 17 32.69 NLRP5 0 genome.wustl.edu 37 19 56538313 56538313 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 56538313 56538313 C T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known silent c.714 p.H238 0.008 superfamily_P-loop_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 tier1 - - 42 0 0.00 31 12 27.91 NLRP6 0 genome.wustl.edu 37 11 285298 285298 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 285298 285298 C A SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known silent c.2673 p.T891 0.037 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 tier1 - - 43 0 0.00 40 4 9.09 NLRP7 0 genome.wustl.edu 37 19 55447775 55447775 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 55447775 55447775 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.2238 p.T746 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 tier1 - - 12 0 0.00 13 6 31.58 NLRP9 0 genome.wustl.edu 37 19 56244406 56244406 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 56244406 56244406 T A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.791 p.K264M 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 38 0 0.00 32 2 5.88 NMB 0 genome.wustl.edu 37 15 85198627 85198627 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 85198627 85198627 A G SNP NMB ENST00000360476 human ensembl 74_37 -1 known missense c.344 p.L115P 0.981 NULL pfam_Bombesin - no_errors NMB HGNC ENSG00000197696 tier1 - - 70 0 0.00 34 11 24.44 NMNAT2 0 genome.wustl.edu 37 1 183261950 183261950 + Missense_Mutation SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 183261950 183261950 C G SNP NMNAT2 ENST00000287713 human ensembl 74_37 -1 known missense c.217 p.A73P 1.000 pfam_Cyt_trans-like pfam_Cyt_trans-like - no_errors NMNAT2 HGNC ENSG00000157064 tier1 - - 50 0 0.00 43 14 24.56 NOG 0 genome.wustl.edu 37 17 54671870 54671870 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 54671870 54671870 G - DEL NOG ENST00000332822 human ensembl 74_37 +1 known frame_shift_del c.286 p.G97fs 0.630 pfam_Noggin,pirsf_Noggin pfam_Noggin,pirsf_Noggin - no_errors NOG HGNC ENSG00000183691 tier1 19 0 0.00 12 9 42.86 NOL6 0 genome.wustl.edu 37 9 33465269 33465269 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 33465269 33465269 C A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.2617 p.D873Y 0.994 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 tier1 - - 62 0 0.00 63 4 5.97 NOL8 0 genome.wustl.edu 37 9 95077338 95077338 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 95077338 95077338 G A SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known silent c.1569 p.S523 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 tier1 - - 72 0 0.00 44 18 29.03 NOP56 0 genome.wustl.edu 37 20 2637737 2637737 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 2637737 2637737 C T SNP NOP56 ENST00000329276 human ensembl 74_37 +1 known missense c.1292 p.A431V 0.906 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC ENSG00000101361 tier1 - - 40 0 0.00 26 7 21.21 NOP9 0 genome.wustl.edu 37 14 24774255 24774255 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 24774255 24774255 C T SNP NOP9 ENST00000267425 human ensembl 74_37 +1 known missense c.1865 p.A622V 0.901 NULL superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 tier1 - - 74 0 0.00 61 12 16.44 NOS1 0 genome.wustl.edu 37 12 117655961 117655961 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 117655961 117655961 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.4179 p.N1393 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 32 0 0.00 25 4 13.79 NOS1 0 genome.wustl.edu 37 12 117703196 117703196 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 117703196 117703196 G - DEL NOS1 ENST00000317775 human ensembl 74_37 -1 known frame_shift_del c.2061 p.M688fs 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 45 0 0.00 32 10 23.81 NOS3 0 genome.wustl.edu 37 7 150693865 150693865 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 150693865 150693865 C T SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.434 p.A145V 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 tier1 - - 25 0 0.00 21 4 16.00 NOSIP 0 genome.wustl.edu 37 19 50059641 50059641 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 50059641 50059641 C T SNP NOSIP ENST00000391853 human ensembl 74_37 -1 known missense c.767 p.R256Q 1.000 pirsf_Nitric_oxide_synth-interacting pirsf_Nitric_oxide_synth-interacting - no_errors NOSIP HGNC ENSG00000142546 tier1 - - 51 0 0.00 29 14 32.56 NPAS3 0 genome.wustl.edu 37 14 34269189 34269189 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 34269189 34269189 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.1676 p.R559H 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 tier1 - - 63 0 0.00 24 12 33.33 NPBWR1 0 genome.wustl.edu 37 8 53852507 53852507 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 53852507 53852507 G A SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.40 p.A14T 0.546 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 tier1 - - 60 0 0.00 29 14 32.56 NPIPA1 0 genome.wustl.edu 37 16 15018428 15018428 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 15018428 15018428 G A SNP NPIPA1 ENST00000472413 human ensembl 74_37 +1 known rna NULL NULL 0.646 - - - no_errors NPIPA1 HGNC ENSG00000183426 tier1 - - 287 0 0.00 231 27 10.42 NPIPB11 0 genome.wustl.edu 37 16 29394630 29394630 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 29394630 29394630 A G SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative silent c.1623 p.T541 0.000 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 76 0 0.00 46 6 11.54 NPPC 0 genome.wustl.edu 37 2 232790897 232790897 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 232790897 232790897 G A SNP NPPC ENST00000295440 human ensembl 74_37 -1 known silent c.63 p.S21 0.990 prints_Natriuretic_peptide_brain pfam_Natr_peptide,smart_Natr_peptide,prints_C_natriurtcpep,prints_Natriuretic_peptide_brain,prints_Natr_peptide,prints_Natriuretic_peptide_atrial - no_errors NPPC HGNC ENSG00000163273 tier1 - - 25 0 0.00 15 9 37.50 NPW 0 genome.wustl.edu 37 16 2070538 2070538 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 2070538 2070538 T C SNP NPW ENST00000329610 human ensembl 74_37 +1 known missense c.416 p.L139P 0.693 NULL prints_Neuropept_W_pre,prints_Neuropept_BW_pre - no_errors NPW HGNC ENSG00000183971 tier1 - - 25 0 0.00 21 10 32.26 NR1H3 0 genome.wustl.edu 37 11 47280983 47280983 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 47280983 47280983 T C SNP NR1H3 ENST00000419652 human ensembl 74_37 +1 known missense c.115 p.W39R 0.000 NULL NULL - no_errors NR1H3 HGNC ENSG00000025434 tier1 - - 54 0 0.00 34 14 29.17 NRARP 0 genome.wustl.edu 37 9 140196214 140196214 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 140196214 140196214 T C SNP NRARP ENST00000356628 human ensembl 74_37 -1 known missense c.167 p.H56R 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 NRARP HGNC ENSG00000198435 tier1 - - 40 0 0.00 44 8 15.38 NRROS 0 genome.wustl.edu 37 3 196386809 196386809 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 196386809 196386809 G A SNP NRROS ENST00000328557 human ensembl 74_37 +1 known missense c.295 p.G99S 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 tier1 - - 70 0 0.00 58 6 9.38 NRROS 0 genome.wustl.edu 37 3 196386875 196386875 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 196386875 196386875 T C SNP NRROS ENST00000328557 human ensembl 74_37 +1 known missense c.361 p.Y121H 0.895 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 tier1 - - 70 0 0.00 42 16 27.59 NRXN1 0 genome.wustl.edu 37 2 50574009 50574011 + In_Frame_Del DEL CGC CGC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CGC CGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 50574009 50574011 CGC - DEL NRXN1 ENST00000342183 human ensembl 74_37 -1 known in_frame_del c.79_77 p.G26in_frame_del 0.998:0.997:0.996 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 14 0 0.00 16 5 23.81 NSUN7 0 genome.wustl.edu 37 4 40810420 40810420 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 40810420 40810420 C T SNP NSUN7 ENST00000381782 human ensembl 74_37 +1 known missense c.1621 p.R541W 0.948 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 68 0 0.00 53 3 5.36 NT5M 0 genome.wustl.edu 37 17 17250123 17250123 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 17250123 17250123 C T SNP NT5M ENST00000389022 human ensembl 74_37 +1 known silent c.549 p.A183 0.038 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 tier1 rs142120102 - 86 0 0.00 55 8 12.70 NTHL1 0 genome.wustl.edu 37 16 2096132 2096133 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 2096132 2096133 - G INS NTHL1 ENST00000219066 human ensembl 74_37 -1 known frame_shift_ins c.375_374 p.V127fs 0.794:1.000 superfamily_DNA_glycosylase pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 tier1 53 0 0.00 32 6 15.79 NTHL1 0 genome.wustl.edu 37 16 2096239 2096239 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 2096239 2096239 G T SNP NTHL1 ENST00000219066 human ensembl 74_37 -1 known missense c.268 p.Q90K 0.043 NULL pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 tier1 - - 44 0 0.00 36 4 10.00 NTM 0 genome.wustl.edu 37 11 131530983 131530984 + RNA INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 131530983 131530984 - G INS NTM ENST00000477098 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 43 0 0.00 22 9 29.03 NTM 0 genome.wustl.edu 37 11 132205624 132205626 + RNA DEL TTT TTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 132205624 132205626 TTT - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.011:0.009 - - - no_errors NTM HGNC ENSG00000182667 tier1 19 0 0.00 15 5 25.00 NUGGC 0 genome.wustl.edu 37 8 27903090 27903090 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 27903090 27903090 C T SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known missense c.1400 p.G467D 0.998 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 tier1 - - 73 0 0.00 92 12 11.54 NUMBL 0 genome.wustl.edu 37 19 41173520 41173520 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 41173520 41173520 G - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known frame_shift_del c.1683 p.W562fs 0.596 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 15 0 0.00 10 3 23.08 NUP107 0 genome.wustl.edu 37 12 69126366 69126366 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 69126366 69126366 A - DEL NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP107 HGNC ENSG00000111581 tier1 34 0 0.00 41 6 12.77 NUP210 0 genome.wustl.edu 37 3 13359206 13359206 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 13359206 13359206 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known nonsense c.5639 p.W1880* 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 44 0 0.00 48 7 12.73 NUP210 0 genome.wustl.edu 37 3 13417856 13417856 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 13417856 13417856 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.1228 p.R410C 0.995 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 67 0 0.00 48 12 20.00 NUP62 0 genome.wustl.edu 37 19 50411539 50411539 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 50411539 50411539 C A SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known missense c.1526 p.R509L 0.958 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 tier1 - - 26 0 0.00 16 4 20.00 NUP93 0 genome.wustl.edu 37 16 56865798 56865798 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 56865798 56865798 G T SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known missense c.1130 p.R377M 1.000 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 tier1 - - 36 0 0.00 31 8 20.51 NUTM2B 0 genome.wustl.edu 37 10 81471989 81471989 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 81471989 81471989 G T SNP NUTM2B ENST00000429828 human ensembl 74_37 +1 known missense c.2385 p.Q795H 0.000 NULL NULL - no_errors NUTM2B HGNC ENSG00000188199 tier1 - - 135 0 0.00 99 20 16.67 NUTM2G 0 genome.wustl.edu 37 9 99694528 99694528 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 99694528 99694528 G T SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known missense c.541 p.G181W 0.002 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 tier1 - - 376 0 0.00 286 63 18.00 NWD1 0 genome.wustl.edu 37 19 16910773 16910773 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 16910773 16910773 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.3536 p.R1179H 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 rs150409927 - 37 0 0.00 17 12 41.38 NXPE3 0 genome.wustl.edu 37 3 101540493 101540493 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 101540493 101540493 C T SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.1375 p.R459W 0.997 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 tier1 - - 49 0 0.00 33 10 22.73 NYAP2 0 genome.wustl.edu 37 2 226446862 226446862 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 226446862 226446862 C T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.729 p.P243 0.116 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 - - 39 0 0.00 19 12 38.71 OBSCN 0 genome.wustl.edu 37 1 228434261 228434261 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 228434261 228434261 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3790 p.V1264M 0.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 64 0 0.00 40 5 11.11 OBSL1 0 genome.wustl.edu 37 2 220432509 220432509 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 220432509 220432509 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known nonsense c.1465 p.R489* 0.998 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 rs121918216 - 84 0 0.00 56 10 15.15 OCA2 0 genome.wustl.edu 37 15 28171296 28171297 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 28171296 28171297 - A INS OCA2 ENST00000354638 human ensembl 74_37 -1 known frame_shift_ins c.2056_2055 p.A685fs 1.000:1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 38 0 0.00 23 8 25.81 OCIAD1 0 genome.wustl.edu 37 4 48851983 48851983 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 48851983 48851983 C T SNP OCIAD1 ENST00000264312 human ensembl 74_37 +1 known silent c.261 p.Y87 1.000 pfam_OCIA pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 tier1 - - 72 0 0.00 51 20 28.17 OCM 0 genome.wustl.edu 37 7 5922245 5922245 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 5922245 5922245 A G SNP OCM ENST00000242104 human ensembl 74_37 +1 known silent c.183 p.E61 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors OCM HGNC ENSG00000122543 tier1 - - 118 0 0.00 93 15 13.89 ODF1 0 genome.wustl.edu 37 8 103572965 103572965 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 103572965 103572965 C T SNP ODF1 ENST00000285402 human ensembl 74_37 +1 known silent c.606 p.C202 0.997 pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC ENSG00000155087 tier1 - - 73 0 0.00 59 5 7.81 OGDHL 0 genome.wustl.edu 37 10 50954894 50954894 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 50954894 50954894 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1198 p.A400T 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 26 0 0.00 14 3 17.65 OGFOD3 0 genome.wustl.edu 37 17 80373456 80373456 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 80373456 80373456 C A SNP OGFOD3 ENST00000329197 human ensembl 74_37 -1 known missense c.122 p.R41M 0.001 NULL smart_Pro_4_hyd_alph - no_errors OGFOD3 HGNC ENSG00000181396 tier1 - - 100 0 0.00 90 18 16.67 OIP5 0 genome.wustl.edu 37 15 41624711 41624711 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 41624711 41624711 G - DEL OIP5 ENST00000220514 human ensembl 74_37 -1 known frame_shift_del c.49 p.R17fs 0.000 NULL NULL - no_errors OIP5 HGNC ENSG00000104147 tier1 59 0 0.00 37 13 26.00 OLFM3 0 genome.wustl.edu 37 1 102296290 102296290 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 102296290 102296290 G T SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.370 p.L124M 1.000 pfam_Noelin-1,superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 62 0 0.00 47 4 7.84 OLIG3 0 genome.wustl.edu 37 6 137814989 137814989 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 137814989 137814989 G A SNP OLIG3 ENST00000367734 human ensembl 74_37 -1 known missense c.319 p.R107C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 tier1 - - 44 0 0.00 25 8 24.24 ONECUT1 0 genome.wustl.edu 37 15 53081028 53081028 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 53081028 53081028 T C SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.1054 p.K352E 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 tier1 - - 72 0 0.00 42 13 23.64 OPRD1 0 genome.wustl.edu 37 1 29189683 29189683 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 29189683 29189683 C A SNP OPRD1 ENST00000234961 human ensembl 74_37 +1 known missense c.1007 p.P336H 0.775 prints_Delta_opi_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 tier1 - - 33 0 0.00 24 5 17.24 OPRM1 0 genome.wustl.edu 37 6 154411172 154411172 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 154411172 154411172 T C SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known missense c.781 p.Y261H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 tier1 - - 54 0 0.00 64 6 8.57 OR10H2 0 genome.wustl.edu 37 19 15838913 15838913 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 15838913 15838913 C - DEL OR10H2 ENST00000305899 human ensembl 74_37 +1 known frame_shift_del c.60 p.H22fs 0.982 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 tier1 106 0 0.00 76 10 11.63 OR10H3 0 genome.wustl.edu 37 19 15852911 15852911 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 15852911 15852911 C T SNP OR10H3 ENST00000305892 human ensembl 74_37 +1 known missense c.709 p.H237Y 0.223 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H3 HGNC ENSG00000171936 tier1 - - 74 0 0.00 56 9 13.85 OR10H5 0 genome.wustl.edu 37 19 15904918 15904918 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 15904918 15904918 C - DEL OR10H5 ENST00000308940 human ensembl 74_37 +1 known frame_shift_del c.60 p.H22fs 0.994 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 tier1 94 0 0.00 73 10 12.05 OR10Z1 0 genome.wustl.edu 37 1 158577072 158577073 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 158577072 158577073 - C INS OR10Z1 ENST00000361284 human ensembl 74_37 +1 known frame_shift_ins c.844_845 p.L284fs 0.995:0.938 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 tier1 41 0 0.00 41 22 34.92 OR13H1 0 genome.wustl.edu 37 X 130678939 130678939 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 130678939 130678939 C T SNP OR13H1 ENST00000338616 human ensembl 74_37 +1 known missense c.892 p.R298W 0.197 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13H1 HGNC ENSG00000171054 tier1 - - 25 0 0.00 15 6 28.57 OR1J2 0 genome.wustl.edu 37 9 125273680 125273680 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 125273680 125273680 C A SNP OR1J2 ENST00000335302 human ensembl 74_37 +1 known missense c.600 p.F200L 0.296 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 tier1 - - 95 0 0.00 46 10 17.86 OR1N1 0 genome.wustl.edu 37 9 125289191 125289191 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 125289191 125289191 G - DEL OR1N1 ENST00000304880 human ensembl 74_37 -1 known frame_shift_del c.382 p.L128fs 0.800 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N1 HGNC ENSG00000171505 tier1 31 0 0.00 42 7 14.29 OR2A14 0 genome.wustl.edu 37 7 143826931 143826931 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 143826931 143826931 C T SNP OR2A14 ENST00000408899 human ensembl 74_37 +1 known silent c.726 p.S242 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 tier1 - - 99 0 0.00 86 30 25.86 OR2AE1 0 genome.wustl.edu 37 7 99474005 99474005 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 99474005 99474005 C T SNP OR2AE1 ENST00000316368 human ensembl 74_37 -1 known missense c.652 p.V218I 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC ENSG00000244623 tier1 - - 37 0 0.00 28 5 15.15 OR2L13 0 genome.wustl.edu 37 1 248263058 248263059 + Frame_Shift_Del DEL CT CT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 248263058 248263059 CT - DEL OR2L13 ENST00000358120 human ensembl 74_37 +1 known frame_shift_del c.381_382 p.Y130fs 0.005:0.989 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L13 HGNC ENSG00000196071 tier1 48 0 0.00 32 3 8.57 OR2L13 0 genome.wustl.edu 37 1 248263222 248263222 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 248263222 248263222 C T SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known missense c.545 p.A182V 0.043 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L13 HGNC ENSG00000196071 tier1 - - 36 0 0.00 22 6 21.43 OR2M2 0 genome.wustl.edu 37 1 248343303 248343303 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 248343303 248343303 C T SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known nonsense c.16 p.Q6* 0.970 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 93 0 0.00 70 4 5.41 OR4B1 0 genome.wustl.edu 37 11 48238936 48238936 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 48238936 48238936 T A SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known missense c.575 p.M192K 0.012 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4B1 HGNC ENSG00000175619 tier1 - - 75 0 0.00 45 24 34.78 OR4F21 0 genome.wustl.edu 37 8 116995 116996 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 116995 116996 - G INS OR4F21 ENST00000320901 human ensembl 74_37 -1 known frame_shift_ins c.30_29 p.E11fs 0.272:0.213 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F21 HGNC ENSG00000176269 tier1 58 0 0.00 58 4 6.45 OR4X2 0 genome.wustl.edu 37 11 48267012 48267012 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 48267012 48267012 C T SNP OR4X2 ENST00000302329 human ensembl 74_37 +1 known silent c.357 p.C119 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X2 HGNC ENSG00000172208 tier1 - - 55 0 0.00 54 16 22.86 OR51E1 0 genome.wustl.edu 37 11 4674493 4674493 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 4674493 4674493 A G SNP OR51E1 ENST00000396952 human ensembl 74_37 +1 known missense c.737 p.H246R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E1 HGNC ENSG00000180785 tier1 - - 44 0 0.00 34 20 37.04 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 tier1 41 0 0.00 20 15 42.86 OR51S1 0 genome.wustl.edu 37 11 4870355 4870355 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 4870355 4870355 T C SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known silent c.84 p.L28 0.212 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 tier1 - - 30 0 0.00 35 7 16.67 OR52B6 0 genome.wustl.edu 37 11 5603090 5603090 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 5603090 5603090 A G SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known silent c.984 p.S328 0.832 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 tier1 - - 44 0 0.00 41 8 16.33 OR52N4 0 genome.wustl.edu 37 11 5776885 5776885 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 5776885 5776885 T C SNP OR52N4 ENST00000317254 human ensembl 74_37 +1 known silent c.915 p.C305 0.464 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N4 HGNC ENSG00000181074 tier1 - - 57 0 0.00 40 5 11.11 OR5D14 0 genome.wustl.edu 37 11 55563075 55563075 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 55563075 55563075 C T SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.44 p.A15V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 tier1 - - 55 0 0.00 56 10 15.15 OR5I1 0 genome.wustl.edu 37 11 55703222 55703223 + In_Frame_Ins INS - - GAT TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 55703222 55703223 - GAT INS OR5I1 ENST00000301532 human ensembl 74_37 -1 known in_frame_ins c.655_654 p.218in_frame_insI 0.977:0.940 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 tier1 25 0 0.00 27 4 12.90 OR5M3 0 genome.wustl.edu 37 11 56237709 56237709 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 56237709 56237709 T - DEL OR5M3 ENST00000312240 human ensembl 74_37 -1 known frame_shift_del c.265 p.T89fs 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 tier1 89 0 0.00 68 13 16.05 OR6C75 0 genome.wustl.edu 37 12 55759191 55759192 + Frame_Shift_Ins INS - - TT TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 55759191 55759192 - TT INS OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_ins c.297_298 p.I102fs 0.002:0.964 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 tier1 33 0 0.00 36 5 12.20 OR6K2 0 genome.wustl.edu 37 1 158669503 158669503 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 158669503 158669503 A - DEL OR6K2 ENST00000359610 human ensembl 74_37 -1 known frame_shift_del c.940 p.S314fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 tier1 65 0 0.00 38 6 13.64 OR6X1 0 genome.wustl.edu 37 11 123624444 123624444 + Silent SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 123624444 123624444 T G SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known silent c.783 p.T261 0.744 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 tier1 - - 49 0 0.00 36 4 10.00 OR7A17 0 genome.wustl.edu 37 19 14991541 14991541 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 14991541 14991541 A G SNP OR7A17 ENST00000327462 human ensembl 74_37 -1 known silent c.627 p.G209 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 tier1 - - 66 0 0.00 32 16 33.33 OR7D2 0 genome.wustl.edu 37 19 9297112 9297112 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 9297112 9297112 T G SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known missense c.655 p.S219A 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 tier1 - - 52 0 0.00 39 13 25.00 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 tier1 72 0 0.00 42 13 23.64 OR9Q2 0 genome.wustl.edu 37 11 57958566 57958566 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 57958566 57958566 T G SNP OR9Q2 ENST00000311591 human ensembl 74_37 +1 known missense c.604 p.F202V 0.794 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q2 HGNC ENSG00000186513 tier1 - - 39 0 0.00 28 4 12.50 ORMDL3 0 genome.wustl.edu 37 17 38077409 38077409 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 38077409 38077409 C T SNP ORMDL3 ENST00000579287 human ensembl 74_37 -1 known rna NULL NULL 0.837 - - - no_errors ORMDL3 HGNC ENSG00000172057 tier1 - - 33 0 0.00 18 10 35.71 OSBPL3 0 genome.wustl.edu 37 7 24932011 24932011 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 24932011 24932011 C T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known silent c.81 p.K27 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 tier1 - - 40 0 0.00 43 5 10.42 OSMR 0 genome.wustl.edu 37 5 38904107 38904107 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 38904107 38904107 G A SNP OSMR ENST00000274276 human ensembl 74_37 +1 known missense c.1115 p.G372D 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 tier1 - - 74 0 0.00 66 4 5.71 OSTM1-AS1 0 genome.wustl.edu 37 6 108478898 108478898 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 108478898 108478898 A G SNP OSTM1-AS1 ENST00000441184 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors OSTM1-AS1 HGNC ENSG00000225174 tier1 - - 93 0 0.00 90 9 9.09 OTOF 0 genome.wustl.edu 37 2 26700559 26700559 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 26700559 26700559 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.2273 p.R758H 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 62 0 0.00 41 20 32.79 OTOF 0 genome.wustl.edu 37 2 26700658 26700658 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 26700658 26700658 G A SNP OTOF ENST00000402415 human ensembl 74_37 -1 known missense c.104 p.A35V 0.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 47 0 0.00 27 4 12.90 OTOF 0 genome.wustl.edu 37 2 26725267 26725267 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 26725267 26725267 T C SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.611 p.D204G 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 42 0 0.00 28 16 36.36 OTOF 0 genome.wustl.edu 37 2 26705387 26705387 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 26705387 26705387 G T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.1466 p.P489H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 31 0 0.00 22 3 12.00 OTOF 0 genome.wustl.edu 37 2 26741971 26741971 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 26741971 26741971 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.234 p.I78 0.944 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 29 0 0.00 22 3 12.00 OTOG 0 genome.wustl.edu 37 11 17623888 17623888 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 17623888 17623888 C A SNP OTOG ENST00000399391 human ensembl 74_37 +1 known missense c.3877 p.L1293M 1.000 pfam_AbfB,superfamily_AbfB pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 31 0 0.00 18 7 28.00 OTOP3 0 genome.wustl.edu 37 17 72945397 72945397 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 72945397 72945397 G T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.1677 p.K559N 0.025 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 tier1 - - 88 0 0.00 65 4 5.80 OTUD6B 0 genome.wustl.edu 37 8 92090607 92090607 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 92090607 92090607 G T SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known missense c.429 p.K143N 0.997 NULL pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 tier1 - - 40 0 0.00 28 15 34.88 OTUD7A 0 genome.wustl.edu 37 15 31776544 31776544 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 31776544 31776544 C A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known silent c.1755 p.S585 0.847 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 tier1 - - 54 0 0.00 27 7 20.59 OTUD7B 0 genome.wustl.edu 37 1 149936187 149936187 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 149936187 149936187 T C SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.692 p.K231R 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 tier1 - - 64 0 0.00 53 4 7.02 OTUD7B 0 genome.wustl.edu 37 1 149949403 149949403 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 149949403 149949403 A G SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.43 p.S15P 1.000 superfamily_UBA-like pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 tier1 - - 53 0 0.00 47 12 20.34 OTX2 0 genome.wustl.edu 37 14 57271049 57271049 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 57271049 57271049 G - DEL OTX2 ENST00000339475 human ensembl 74_37 -1 known frame_shift_del c.130 p.R44fs 0.947 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 tier1 56 0 0.00 41 6 12.77 OVGP1 0 genome.wustl.edu 37 1 111958968 111958968 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 111958968 111958968 A G SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known missense c.1133 p.L378S 0.239 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 tier1 - - 50 0 0.00 37 10 21.28 OXNAD1 0 genome.wustl.edu 37 3 16343348 16343348 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 16343348 16343348 A - DEL OXNAD1 ENST00000544043 human ensembl 74_37 +1 known frame_shift_del c.702 p.N236fs 0.128 pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6 pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC ENSG00000154814 tier1 40 0 0.00 18 12 40.00 OXTR 0 genome.wustl.edu 37 3 8809115 8809115 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 8809115 8809115 C - DEL OXTR ENST00000316793 human ensembl 74_37 -1 known frame_shift_del c.759 p.R254fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 tier1 36 0 0.00 26 6 18.75 P2RX1 0 genome.wustl.edu 37 17 3808604 3808604 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 3808604 3808604 G A SNP P2RX1 ENST00000225538 human ensembl 74_37 -1 known silent c.195 p.V65 0.990 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC ENSG00000108405 tier1 - - 73 0 0.00 69 7 9.21 P2RY2 0 genome.wustl.edu 37 11 72946284 72946284 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 72946284 72946284 G A SNP P2RY2 ENST00000311131 human ensembl 74_37 +1 known silent c.1080 p.R360 0.000 prints_P2Y2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt - no_errors P2RY2 HGNC ENSG00000175591 tier1 - - 31 0 0.00 15 4 21.05 P2RY8 0 genome.wustl.edu 37 X 1584894 1584894 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 1584894 1584894 G A SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known silent c.558 p.S186 0.174 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 tier1 - - 56 0 0.00 21 9 30.00 PACRG 0 genome.wustl.edu 37 6 163149263 163149263 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 163149263 163149263 G T SNP PACRG ENST00000542669 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PACRG HGNC ENSG00000112530 tier1 - - 38 0 0.00 20 3 13.04 PACRG 0 genome.wustl.edu 37 6 163149330 163149330 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 163149330 163149330 C A SNP PACRG ENST00000337019 human ensembl 74_37 +1 known silent c.63 p.T21 1.000 NULL pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 tier1 - - 45 0 0.00 32 5 13.51 PAFAH1B1 0 genome.wustl.edu 37 17 2585247 2585247 + RNA SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 2585247 2585247 A T SNP PAFAH1B1 ENST00000397193 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 tier1 - - 56 0 0.00 44 4 8.33 PAFAH1B1 0 genome.wustl.edu 37 17 2576016 2576016 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 2576016 2576016 G A SNP PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known silent c.636 p.R212 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 35 0 0.00 23 2 8.00 PAK4 0 genome.wustl.edu 37 19 39663724 39663724 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 39663724 39663724 C T SNP PAK4 ENST00000358301 human ensembl 74_37 +1 known missense c.371 p.T124M 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 31 0 0.00 19 3 13.64 PALLD 0 genome.wustl.edu 37 4 169611845 169611845 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 169611845 169611845 G A SNP PALLD ENST00000261509 human ensembl 74_37 +1 known missense c.1427 p.R476Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PALLD HGNC ENSG00000129116 tier1 - - 72 0 0.00 60 10 14.29 PALLD 0 genome.wustl.edu 37 4 169812208 169812208 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 169812208 169812208 G T SNP PALLD ENST00000261509 human ensembl 74_37 +1 known silent c.2100 p.P700 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PALLD HGNC ENSG00000129116 17 0 0.00 29 3 9.38 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899369 112899370 + In_Frame_Ins INS - - CAG TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 112899369 112899370 - CAG INS PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known in_frame_ins c.1545_1546 p.519in_frame_insQ 0.145:0.823 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 27 0 0.00 17 10 37.04 PANK1 0 genome.wustl.edu 37 10 91353582 91353582 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 91353582 91353582 G A SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known missense c.1475 p.A492V 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 tier1 - - 83 0 0.00 75 10 11.76 PANK4 0 genome.wustl.edu 37 1 2457955 2457955 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 2457955 2457955 G - DEL PANK4 ENST00000378466 human ensembl 74_37 -1 known frame_shift_del c.72 p.D25fs 0.998 pirsf_PanK_long pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 tier1 127 0 0.00 76 8 9.52 PAPD5 0 genome.wustl.edu 37 16 50264212 50264215 + RNA DEL AAAA AAAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 50264212 50264215 AAAA - DEL PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.053:0.065:0.065:0.056 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 19 0 0.00 10 4 28.57 PAQR9 0 genome.wustl.edu 37 3 142681484 142681484 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 142681484 142681484 C T SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.695 p.R232H 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 tier1 - - 39 0 0.00 27 6 18.18 PARP6 0 genome.wustl.edu 37 15 72559896 72559896 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 72559896 72559896 C T SNP PARP6 ENST00000413097 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors PARP6 HGNC ENSG00000137817 tier1 - - 28 0 0.00 36 6 14.29 PATZ1 0 genome.wustl.edu 37 22 31737641 31737641 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 31737641 31737641 G A SNP PATZ1 ENST00000215919 human ensembl 74_37 -1 known missense c.1364 p.P455L 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 33 0 0.00 25 4 13.79 PAX1 0 genome.wustl.edu 37 20 21687474 21687474 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 21687474 21687474 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.685 p.A229T 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 93 0 0.00 70 13 15.66 PBRM1 0 genome.wustl.edu 37 3 52678784 52678784 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 52678784 52678784 T - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.835 p.I279fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 105 0 0.00 76 18 19.15 PC 0 genome.wustl.edu 37 11 66618621 66618621 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 66618621 66618621 A G SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.2113 p.S705P 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_dom,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 tier1 - - 120 0 0.00 126 20 13.70 PCDHA11 0 genome.wustl.edu 37 5 140249224 140249224 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140249224 140249224 C A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.536 p.S179Y 0.185 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 33 0 0.00 39 4 9.30 PCDHA12 0 genome.wustl.edu 37 5 140256353 140256353 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140256353 140256353 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1296 p.S432 0.010 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 PCDHA12 HGNC ENSG00000251664 tier1 - - 140 0 0.00 80 29 26.61 PCDHA12 0 genome.wustl.edu 37 5 140256977 140256977 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140256977 140256977 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1920 p.A640 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 130 0 0.00 77 39 33.62 PCDHA12 0 genome.wustl.edu 37 5 140255703 140255703 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140255703 140255703 G T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.646 p.D216Y 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 32 0 0.00 31 2 6.06 PCDHA2 0 genome.wustl.edu 37 5 140175608 140175608 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140175608 140175608 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.1059 p.T353 0.229 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 tier1 - - 36 0 0.00 43 23 34.85 PCDHA7 0 genome.wustl.edu 37 5 140215581 140215581 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140215581 140215581 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1613 p.R538H 0.988 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 PCDHA7 HGNC ENSG00000204963 tier1 - - 167 0 0.00 109 47 30.13 PCDHA9 0 genome.wustl.edu 37 5 140229589 140229589 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140229589 140229589 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1509 p.S503 0.770 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 152 0 0.00 155 25 13.81 PCDHAC2 0 genome.wustl.edu 37 5 140347009 140347009 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140347009 140347009 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.658 p.A220T 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 tier1 - - 20 0 0.00 24 6 20.00 PCDHB11 0 genome.wustl.edu 37 5 140580070 140580070 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140580070 140580070 A G SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.723 p.E241 0.581 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 57 0 0.00 43 9 17.31 PCDHB11 0 genome.wustl.edu 37 5 140579984 140579984 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140579984 140579984 T A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.637 p.S213T 0.039 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 46 0 0.00 31 8 20.51 PCDHB11 0 genome.wustl.edu 37 5 140579998 140579998 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140579998 140579998 T C SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.651 p.G217 0.342 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 55 0 0.00 28 7 19.44 PCDHB11 0 genome.wustl.edu 37 5 140580049 140580049 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140580049 140580049 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.702 p.D234 0.025 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 60 0 0.00 41 5 10.87 PCDHB13 0 genome.wustl.edu 37 5 140595476 140595476 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140595476 140595476 G A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.1781 p.G594D 0.849 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 PCDHB13 HGNC ENSG00000187372 tier1 - - 93 0 0.00 117 12 9.30 PCDHB14 0 genome.wustl.edu 37 5 140603942 140603942 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140603942 140603942 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.865 p.R289C 0.000 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 PCDHB14 HGNC ENSG00000120327 tier1 - - 67 0 0.00 48 16 25.00 PCDHB14 0 genome.wustl.edu 37 5 140604226 140604226 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140604226 140604226 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known silent c.1149 p.C383 0.985 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 PCDHB14 HGNC ENSG00000120327 tier1 - - 59 0 0.00 50 8 13.79 PCDHB4 0 genome.wustl.edu 37 5 140503443 140503443 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140503443 140503443 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.1863 p.G621 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 PCDHB4 HGNC ENSG00000081818 tier1 - - 142 0 0.00 99 51 34.00 PCDHB8 0 genome.wustl.edu 37 5 140559488 140559488 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140559488 140559488 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1873 p.V625M 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 PCDHB8 HGNC ENSG00000120322 tier1 - - 211 0 0.00 165 18 9.84 PCDHGA1 0 genome.wustl.edu 37 5 140710767 140710767 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140710767 140710767 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known silent c.516 p.L172 0.984 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 PCDHGA1 HGNC ENSG00000204956 24 0 0.00 23 2 8.00 PCDHGA3 0 genome.wustl.edu 37 5 140724854 140724854 + Nonsense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140724854 140724854 T A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known nonsense c.1254 p.Y418* 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 PCDHGA3 HGNC ENSG00000254245 tier1 - - 31 0 0.00 27 8 22.86 PCDHGA3 0 genome.wustl.edu 37 5 140725964 140725964 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140725964 140725964 C T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.2364 p.S788 0.540 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 tier1 - - 87 0 0.00 76 23 23.23 PCDHGA4 0 genome.wustl.edu 37 5 140735562 140735562 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140735562 140735562 A G SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known silent c.795 p.K265 0.988 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 PCDHGA4 HGNC ENSG00000262576 tier1 - - 34 0 0.00 19 9 32.14 PCDHGB1 0 genome.wustl.edu 37 5 140731905 140731905 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140731905 140731905 C T SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.2078 p.A693V 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 tier1 - - 44 0 0.00 25 11 30.56 PCDHGB3 0 genome.wustl.edu 37 5 140751606 140751606 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140751606 140751606 C T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.1645 p.R549C 0.159 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 PCDHGB3 HGNC ENSG00000262209 tier1 - - 128 0 0.00 81 28 25.69 PCDHGC3 0 genome.wustl.edu 37 5 140856435 140856435 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140856435 140856435 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.752 p.A251V 1.000 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 PCDHGC3 HGNC ENSG00000240184 tier1 - - 32 0 0.00 36 7 16.28 PCDHGC5 0 genome.wustl.edu 37 5 140870295 140870295 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 140870295 140870295 T A SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.1488 p.N496K 0.071 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 tier1 - - 37 0 0.00 31 9 22.50 PCLO 0 genome.wustl.edu 37 7 82578944 82578944 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 82578944 82578944 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.10960 p.Q3654* 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 66 0 0.00 54 22 28.95 PCNXL2 0 genome.wustl.edu 37 1 233388513 233388513 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 233388513 233388513 T - DEL PCNXL2 ENST00000258229 human ensembl 74_37 -1 known frame_shift_del c.1856 p.K619fs 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 39 0 0.00 36 9 20.00 PCOLCE 0 genome.wustl.edu 37 7 100205580 100205580 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 100205580 100205580 G T SNP PCOLCE ENST00000223061 human ensembl 74_37 +1 known missense c.1204 p.G402C 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 tier1 - - 82 0 0.00 52 16 23.53 PCSK2 0 genome.wustl.edu 37 20 17434447 17434447 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 17434447 17434447 G T SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.946 p.D316Y 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 tier1 - - 112 0 0.00 73 8 9.88 PCYOX1L 0 genome.wustl.edu 37 5 148747925 148747925 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 148747925 148747925 C - DEL PCYOX1L ENST00000274569 human ensembl 74_37 +1 known frame_shift_del c.1193 p.K400fs 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 tier1 130 0 0.00 96 13 11.93 PCYT1A 0 genome.wustl.edu 37 3 195974305 195974305 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 195974305 195974305 C T SNP PCYT1A ENST00000292823 human ensembl 74_37 -1 known missense c.419 p.R140H 1.000 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 tier1 - - 59 0 0.00 42 10 19.23 PDCD1 0 genome.wustl.edu 37 2 242795103 242795104 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 242795103 242795104 - G INS PDCD1 ENST00000334409 human ensembl 74_37 -1 known frame_shift_ins c.106_105 p.T35fs 0.986:0.990 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 tier1 57 0 0.00 47 11 18.97 PDCD10 0 genome.wustl.edu 37 3 167437900 167437900 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 167437900 167437900 A T SNP PDCD10 ENST00000392750 human ensembl 74_37 -1 known missense c.46 p.S16T 1.000 pfam_DUF1241 pfam_DUF1241 - no_errors PDCD10 HGNC ENSG00000114209 tier1 - - 87 0 0.00 45 16 26.23 PDCD11 0 genome.wustl.edu 37 10 105200521 105200521 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 105200521 105200521 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.4471 p.G1491S 0.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,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 tier1 - - 47 0 0.00 38 13 25.49 PDE3B 0 genome.wustl.edu 37 11 14810530 14810531 + RNA INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 14810530 14810531 - T INS PDE3B ENST00000525439 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors PDE3B HGNC ENSG00000152270 tier1 37 0 0.00 23 12 34.29 PDE4A 0 genome.wustl.edu 37 19 10578271 10578271 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10578271 10578271 G - DEL PDE4A ENST00000352831 human ensembl 74_37 +1 known frame_shift_del c.2635 p.S881fs 0.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 tier1 43 0 0.00 41 6 12.77 PDE4DIP 0 genome.wustl.edu 37 1 145075830 145075830 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 145075830 145075830 G T SNP PDE4DIP ENST00000369348 human ensembl 74_37 -1 known silent c.33 p.R11 0.993 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 154 0 0.00 107 10 8.55 PDE5A 0 genome.wustl.edu 37 4 120528330 120528330 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 120528330 120528330 C T SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known missense c.275 p.S92N 0.559 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 tier1 - - 62 0 0.00 60 6 9.09 PDE9A 0 genome.wustl.edu 37 21 44190872 44190872 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 44190872 44190872 C T SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known silent c.1650 p.Y550 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 tier1 - - 24 0 0.00 13 8 38.10 PDE9A 0 genome.wustl.edu 37 21 44195538 44195539 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 44195538 44195539 AA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 tier1 32 0 0.00 15 5 25.00 PDGFB 0 genome.wustl.edu 37 22 39626130 39626130 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 39626130 39626130 C T SNP PDGFB ENST00000331163 human ensembl 74_37 -1 known missense c.560 p.R187Q 0.101 NULL pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 80 0 0.00 73 4 5.19 PDIA4 0 genome.wustl.edu 37 7 148702314 148702314 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 148702314 148702314 C T SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known missense c.1441 p.E481K 1.000 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 tier1 - - 47 0 0.00 48 7 12.73 PDLIM2 0 genome.wustl.edu 37 8 22442382 22442382 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 22442382 22442382 A T SNP PDLIM2 ENST00000308354 human ensembl 74_37 +1 known missense c.1044 p.E348D 0.846 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 tier1 - - 69 0 0.00 57 4 6.56 PDLIM5 0 genome.wustl.edu 37 4 95377669 95377669 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 95377669 95377669 T - DEL PDLIM5 ENST00000359265 human ensembl 74_37 +1 putative frame_shift_del c.371 p.F126fs 0.000 NULL NULL - no_errors PDLIM5 HGNC ENSG00000163110 tier1 23 0 0.00 8 10 55.56 PDLIM7 0 genome.wustl.edu 37 5 176918059 176918059 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 176918059 176918059 G A SNP PDLIM7 ENST00000355841 human ensembl 74_37 -1 known nonsense c.487 p.Q163* 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 tier1 - - 48 0 0.00 44 11 20.00 PDZD2 0 genome.wustl.edu 37 5 31983543 31983543 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 31983543 31983543 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known silent c.759 p.G253 0.984 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 56 0 0.00 47 13 21.31 PDZRN3 0 genome.wustl.edu 37 3 73673854 73673854 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 73673854 73673854 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.123 p.C41 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING 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 tier1 - - 29 0 0.00 27 5 15.62 PEAK1 0 genome.wustl.edu 37 15 77472838 77472838 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 77472838 77472838 G A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known silent c.1431 p.V477 0.003 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 tier1 - - 78 0 0.00 48 12 20.00 PEAK1 0 genome.wustl.edu 37 15 77407253 77407253 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 77407253 77407253 G A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known silent c.4486 p.L1496 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 42 0 0.00 40 3 6.98 PEAR1 0 genome.wustl.edu 37 1 156879873 156879873 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156879873 156879873 C T SNP PEAR1 ENST00000292357 human ensembl 74_37 +1 known missense c.1651 p.R551C 0.997 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 57 0 0.00 32 2 5.88 PEG3 0 genome.wustl.edu 37 19 57328136 57328136 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 57328136 57328136 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.1674 p.G558 0.039 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 57 0 0.00 51 10 16.39 PELI1 0 genome.wustl.edu 37 2 64323617 64323617 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 64323617 64323617 T C SNP PELI1 ENST00000358912 human ensembl 74_37 -1 known missense c.431 p.E144G 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI1 HGNC ENSG00000197329 tier1 - - 32 0 0.00 28 4 12.50 PELI3 0 genome.wustl.edu 37 11 66239923 66239923 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 66239923 66239923 C T SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known silent c.438 p.S146 0.894 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 37 0 0.00 30 5 14.29 PELO 0 genome.wustl.edu 37 5 52097435 52097435 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 52097435 52097435 G A SNP PELO ENST00000274311 human ensembl 74_37 +1 known missense c.919 p.A307T 1.000 pfam_eRF1_3,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 tier1 - - 47 0 0.00 41 11 21.15 PELP1 0 genome.wustl.edu 37 17 4578192 4578192 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 4578192 4578192 G A SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.1766 p.S589L 0.294 pfam_Uncharacterised_NUC202 pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 tier1 - - 60 0 0.00 61 6 8.96 PEPD 0 genome.wustl.edu 37 19 33878909 33878909 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 33878909 33878909 C T SNP PEPD ENST00000244137 human ensembl 74_37 -1 known missense c.1231 p.V411M 0.972 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 tier1 - - 25 0 0.00 19 8 29.63 PER3 0 genome.wustl.edu 37 1 7887598 7887598 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 7887598 7887598 C T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.2585 p.S862L 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 tier1 - - 64 0 0.00 49 21 30.00 PES1 0 genome.wustl.edu 37 22 30977620 30977620 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 30977620 30977620 G A SNP PES1 ENST00000354694 human ensembl 74_37 -1 known silent c.642 p.D214 0.980 pfam_Pescadillo pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 tier1 - - 18 0 0.00 13 5 27.78 PEX5L 0 genome.wustl.edu 37 3 179519743 179519743 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 179519743 179519743 G A SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.1754 p.A585V 0.987 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 - - 44 0 0.00 50 6 10.71 PFKM 0 genome.wustl.edu 37 12 48528050 48528050 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 48528050 48528050 G A SNP PFKM ENST00000312352 human ensembl 74_37 +1 known missense c.629 p.R210H 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,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 tier1 - - 65 0 0.00 51 6 10.53 PFN1 0 genome.wustl.edu 37 17 4849207 4849207 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 4849207 4849207 A G SNP PFN1 ENST00000225655 human ensembl 74_37 -1 known silent c.411 p.R137 0.998 superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates - no_errors PFN1 HGNC ENSG00000108518 tier1 - - 118 0 0.00 91 18 16.51 PGA5 0 genome.wustl.edu 37 11 61015862 61015862 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 61015862 61015862 T A SNP PGA5 ENST00000451616 human ensembl 74_37 +1 putative missense c.166 p.F56I 0.001 NULL pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGA5 HGNC ENSG00000256713 tier1 - - 152 0 0.00 111 10 8.26 PGAP1 0 genome.wustl.edu 37 2 197712754 197712754 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 197712754 197712754 G A SNP PGAP1 ENST00000409475 human ensembl 74_37 -1 known missense c.1775 p.A592V 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 tier1 - - 52 0 0.00 37 6 13.95 PGBD1 0 genome.wustl.edu 37 6 28268581 28268581 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 28268581 28268581 G A SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.950 p.R317H 0.012 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 tier1 rs199718652 - 38 0 0.00 21 10 32.26 PGLYRP2 0 genome.wustl.edu 37 19 15587229 15587229 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 15587229 15587229 G A SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known silent c.252 p.C84 0.000 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 tier1 - - 63 0 0.00 36 7 16.28 PGLYRP3 0 genome.wustl.edu 37 1 153274898 153274898 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 153274898 153274898 C T SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known missense c.715 p.D239N 1.000 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 tier1 - - 76 0 0.00 54 9 14.29 PGLYRP3 0 genome.wustl.edu 37 1 153279708 153279708 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 153279708 153279708 C - DEL PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known frame_shift_del c.91 p.A31fs 0.002 superfamily_Amidase_domain,smart_PGRP_domain_met/bac pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 tier1 44 0 0.00 34 12 26.09 PGM5 0 genome.wustl.edu 37 9 70993121 70993121 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 70993121 70993121 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known nonsense c.268 p.R90* 0.949 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 tier1 - - 71 0 0.00 94 11 10.48 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 tier1 - - 93 0 0.00 88 8 8.33 PGRMC2 0 genome.wustl.edu 37 4 129193546 129193547 + Frame_Shift_Del DEL CT CT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 129193546 129193547 CT - DEL PGRMC2 ENST00000520121 human ensembl 74_37 -1 known frame_shift_del c.617_616 p.S206fs 1.000:1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors PGRMC2 HGNC ENSG00000164040 tier1 38 0 0.00 21 5 19.23 PHC1 0 genome.wustl.edu 37 12 9089508 9089508 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 9089508 9089508 G A SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known missense c.2425 p.A809T 1.000 pfam_Znf_MYM,pfscan_Znf_FCS pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 tier1 - - 49 0 0.00 45 4 8.16 PHF1 0 genome.wustl.edu 37 6 33380050 33380050 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 33380050 33380050 C - DEL PHF1 ENST00000374516 human ensembl 74_37 +1 known frame_shift_del c.10 p.R6fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 tier1 47 0 0.00 25 5 16.67 PHF13 0 genome.wustl.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 6680069 6680071 GAA - DEL PHF13 ENST00000377648 human ensembl 74_37 +1 known in_frame_del c.348_350 p.K120in_frame_del 0.998:1.000:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 tier1 23 0 0.00 23 8 25.81 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 tier1 95 0 0.00 66 12 15.38 PHF3 0 genome.wustl.edu 37 6 64394560 64394560 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 64394560 64394560 A T SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.937 p.I313L 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 tier1 - - 25 0 0.00 32 4 11.11 PHGR1 0 genome.wustl.edu 37 15 40648424 40648424 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 40648424 40648424 C 0 DEL PHGR1 ENST00000448599 human ensembl 74_37 +1 known frame_shift_del c.169 p.H59fs 0.026 NULL NULL - no_errors PHGR1 HGNC ENSG00000233041 17 0 0.00 12 6 33.33 PHLDB1 0 genome.wustl.edu 37 11 118528628 118528628 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 118528628 118528628 C A SNP PHLDB1 ENST00000534140 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors PHLDB1 HGNC ENSG00000019144 tier1 - - 49 0 0.00 21 6 22.22 PI16 0 genome.wustl.edu 37 6 36926976 36926976 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 36926976 36926976 G - DEL PI16 ENST00000373674 human ensembl 74_37 +1 known frame_shift_del c.227 p.G77fs 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 tier1 90 0 0.00 63 11 14.86 PI4KA 0 genome.wustl.edu 37 22 21161675 21161675 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 21161675 21161675 C T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.1143 p.L381 0.987 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 47 0 0.00 23 7 23.33 PIAS3 0 genome.wustl.edu 37 1 145585419 145585419 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 145585419 145585419 T C SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known missense c.1684 p.Y562H 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 tier1 - - 38 0 0.00 31 5 13.89 PIGP 0 genome.wustl.edu 37 21 38439662 38439662 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 38439662 38439662 T C SNP PIGP ENST00000464265 human ensembl 74_37 -1 known silent c.246 p.L82 0.996 pfam_PIG-P,pirsf_PIG-P_GPI19 pfam_PIG-P,pirsf_PIG-P_GPI19 - no_errors PIGP HGNC ENSG00000185808 tier1 - - 66 0 0.00 55 8 12.70 PIGR 0 genome.wustl.edu 37 1 207112680 207112680 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 207112680 207112680 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known nonsense c.172 p.Q58* 0.203 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 tier1 - - 41 0 0.00 26 17 39.53 PIGS 0 genome.wustl.edu 37 17 26888605 26888605 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 26888605 26888605 G A SNP PIGS ENST00000308360 human ensembl 74_37 -1 known missense c.511 p.R171W 0.688 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 37 0 0.00 32 2 5.88 PIGT 0 genome.wustl.edu 37 20 44050026 44050026 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 44050026 44050026 C - DEL PIGT ENST00000279036 human ensembl 74_37 +1 known frame_shift_del c.1037 p.P348fs 0.666 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 tier1 55 0 0.00 29 5 14.71 PIK3C2B 0 genome.wustl.edu 37 1 204438071 204438072 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 204438071 204438072 - G INS PIK3C2B ENST00000367187 human ensembl 74_37 -1 known frame_shift_ins c.860_859 p.R287fs 1.000:0.985 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 tier1 57 0 0.00 29 14 32.56 PIK3CD 0 genome.wustl.edu 37 1 9780259 9780259 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 9780259 9780259 G A SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.1324 p.E442K 0.998 superfamily_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 tier1 - - 93 0 0.00 56 10 15.15 PIK3R2 0 genome.wustl.edu 37 19 18271903 18271903 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 18271903 18271903 C T SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.506 p.A169V 0.018 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 tier1 - - 53 0 0.00 43 12 21.82 PIK3R3 0 genome.wustl.edu 37 1 46509106 46509106 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 46509106 46509106 A - DEL PIK3R3 ENST00000488808 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PIK3R3 HGNC ENSG00000117461 tier1 36 0 0.00 30 4 11.76 PITRM1 0 genome.wustl.edu 37 10 3181192 3181192 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 3181192 3181192 A G SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.2824 p.W942R 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 61 0 0.00 48 4 7.69 PITX2 0 genome.wustl.edu 37 4 111543527 111543527 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 111543527 111543527 G T SNP PITX2 ENST00000306732 human ensembl 74_37 -1 known silent c.90 p.P30 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 tier1 - - 130 0 0.00 88 8 8.33 PKD1 0 genome.wustl.edu 37 16 2148119 2148119 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 2148119 2148119 G T SNP PKD1 ENST00000566784 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 66 0 0.00 39 13 25.00 PKD1 0 genome.wustl.edu 37 16 2139829 2139829 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 2139829 2139829 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.12811 p.P4271S 0.083 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 35 0 0.00 25 3 10.71 PKD1L1 0 genome.wustl.edu 37 7 47955186 47955186 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 47955186 47955186 A - DEL PKD1L1 ENST00000289672 human ensembl 74_37 -1 known frame_shift_del c.1071 p.H358fs 0.006 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 38 0 0.00 14 9 39.13 PKDCC 0 genome.wustl.edu 37 2 42280450 42280450 + Silent SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 42280450 42280450 C G SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known silent c.711 p.A237 0.994 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 tier1 - - 51 0 0.00 47 9 16.07 PKDREJ 0 genome.wustl.edu 37 22 46658462 46658462 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 46658462 46658462 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.758 p.R253H 0.000 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 tier1 - - 38 0 0.00 29 8 21.62 PKNOX1 0 genome.wustl.edu 37 21 44433177 44433177 + Splice_Site SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 44433177 44433177 G T SNP PKNOX1 ENST00000291547 human ensembl 74_37 +1 known splice_site c.352-1 e4-1 1.000 - - - no_errors PKNOX1 HGNC ENSG00000160199 61 0 0.00 62 4 6.06 PKNOX2 0 genome.wustl.edu 37 11 125301354 125301354 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 125301354 125301354 G - DEL PKNOX2 ENST00000530517 human ensembl 74_37 +1 known rna NULL NULL 0.181 - - - no_errors PKNOX2 HGNC ENSG00000165495 tier1 16 0 0.00 11 6 35.29 PLA2G16 0 genome.wustl.edu 37 11 63381549 63381549 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 63381549 63381549 G - DEL PLA2G16 ENST00000394613 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLA2G16 HGNC ENSG00000176485 tier1 87 0 0.00 47 15 24.19 PLA2G4F 0 genome.wustl.edu 37 15 42437801 42437801 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 42437801 42437801 C T SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known silent c.1758 p.E586 0.106 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 tier1 - - 96 0 0.00 54 15 21.74 PLA2R1 0 genome.wustl.edu 37 2 160885468 160885468 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 160885468 160885468 A G SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.848 p.M283T 0.018 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 PLA2R1 HGNC ENSG00000153246 tier1 - - 38 0 0.00 20 10 33.33 PLAGL2 0 genome.wustl.edu 37 20 30784466 30784466 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 30784466 30784466 G A SNP PLAGL2 ENST00000246229 human ensembl 74_37 -1 known missense c.1280 p.P427L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 tier1 - - 72 0 0.00 58 8 12.12 PLB1 0 genome.wustl.edu 37 2 28827531 28827531 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 28827531 28827531 C T SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.2833 p.R945C 0.945 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 tier1 rs145179606 - 50 0 0.00 30 6 16.67 PLCB2 0 genome.wustl.edu 37 15 40596215 40596215 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 40596215 40596215 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known missense c.149 p.T50M 0.993 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 tier1 - - 36 0 0.00 38 7 15.56 PLD4 0 genome.wustl.edu 37 14 105398428 105398428 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 105398428 105398428 G A SNP PLD4 ENST00000392593 human ensembl 74_37 +1 known missense c.1138 p.G380R 0.999 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 tier1 - - 59 0 0.00 34 16 32.00 PLEC 0 genome.wustl.edu 37 8 144994758 144994758 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 144994758 144994758 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.9642 p.T3214 0.004 pfam_Plectin_repeat,smart_Plectin_repeat 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 tier1 - - 59 0 0.00 60 25 29.41 PLEKHA2 0 genome.wustl.edu 37 8 38809686 38809686 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 38809686 38809686 C T SNP PLEKHA2 ENST00000420274 human ensembl 74_37 +1 known silent c.489 p.N163 0.942 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 tier1 - - 34 0 0.00 32 6 15.79 PLEKHA3 0 genome.wustl.edu 37 2 179350399 179350399 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 179350399 179350399 T C SNP PLEKHA3 ENST00000234453 human ensembl 74_37 +1 known silent c.72 p.N24 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA3 HGNC ENSG00000116095 tier1 - - 26 0 0.00 13 3 18.75 PLEKHA4 0 genome.wustl.edu 37 19 49344468 49344468 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 49344468 49344468 G A SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.1843 p.R615W 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 tier1 - - 143 0 0.00 99 32 24.43 PLEKHA4 0 genome.wustl.edu 37 19 49344558 49344558 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 49344558 49344558 C T SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.1753 p.A585T 0.160 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 tier1 - - 85 0 0.00 60 15 20.00 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 tier1 50 0 0.00 38 18 32.14 PLEKHH3 0 genome.wustl.edu 37 17 40823464 40823464 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 40823464 40823464 C T SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known missense c.1189 p.A397T 0.655 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 tier1 - - 90 0 0.00 57 12 17.39 PLEKHM3 0 genome.wustl.edu 37 2 208841894 208841894 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 208841894 208841894 T C SNP PLEKHM3 ENST00000427836 human ensembl 74_37 -1 known missense c.1027 p.T343A 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 34 0 0.00 21 2 8.70 PLG 0 genome.wustl.edu 37 6 161132169 161132170 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 161132169 161132170 - A INS PLG ENST00000308192 human ensembl 74_37 +1 known frame_shift_ins c.353_354 p.N120fs 0.028:0.033 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 tier1 259 0 0.00 240 30 11.11 PLG 0 genome.wustl.edu 37 6 161134306 161134306 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 161134306 161134306 T - DEL PLG ENST00000462918 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors PLG HGNC ENSG00000122194 tier1 22 0 0.00 25 4 13.79 PLIN2 0 genome.wustl.edu 37 9 19108507 19108508 + RNA INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 19108507 19108508 - A INS PLIN2 ENST00000464326 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.029 - - - no_errors PLIN2 HGNC ENSG00000147872 tier1 10 0 0.00 11 4 26.67 PLIN4 0 genome.wustl.edu 37 19 4516633 4516633 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 4516633 4516633 T C SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.209 p.E70G 0.020 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 tier1 - - 84 0 0.00 47 17 26.56 PLK1 0 genome.wustl.edu 37 16 23695251 23695251 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 23695251 23695251 C T SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.877 p.R293C 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 tier1 - - 61 0 0.00 60 15 20.00 PLXDC2 0 genome.wustl.edu 37 10 20569079 20569079 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 20569079 20569079 A - DEL PLXDC2 ENST00000377238 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PLXDC2 HGNC ENSG00000120594 tier1 38 0 0.00 22 10 31.25 PLXNA1 0 genome.wustl.edu 37 3 126708216 126708216 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 126708216 126708216 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.780 p.T260 0.030 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 tier1 - - 29 0 0.00 19 15 44.12 PLXNA1 0 genome.wustl.edu 37 3 126748821 126748821 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 126748821 126748821 A G SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.4975 p.N1659D 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 47 0 0.00 20 2 9.09 PLXNA4 0 genome.wustl.edu 37 7 131912284 131912284 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 131912284 131912284 C A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1808 p.G603V 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 49 0 0.00 23 17 42.50 PLXNB3 0 genome.wustl.edu 37 X 153043747 153043747 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 153043747 153043747 G A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.5510 p.R1837Q 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 tier1 - - 80 0 0.00 51 8 13.56 PMEPA1 0 genome.wustl.edu 37 20 56227348 56227349 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 56227348 56227349 - G INS PMEPA1 ENST00000341744 human ensembl 74_37 -1 known frame_shift_ins c.625_624 p.S208fs 1.000:0.979 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 tier1 51 0 0.00 49 6 10.91 PMF1-BGLAP 0 genome.wustl.edu 37 1 156182947 156182948 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 156182947 156182948 - A INS PMF1-BGLAP ENST00000368276 human ensembl 74_37 +1 known frame_shift_ins c.141_142 p.L48fs 1.000:1.000 NULL pfam_Nnf1 - no_errors PMF1-BGLAP HGNC ENSG00000260238 tier1 21 0 0.00 7 3 30.00 PML 0 genome.wustl.edu 37 15 74327656 74327656 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 74327656 74327656 C - DEL PML ENST00000268059 human ensembl 74_37 +1 known frame_shift_del c.1854 p.P620fs 0.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 tier1 155 0 0.00 121 14 10.37 PNISR 0 genome.wustl.edu 37 6 99848584 99848584 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 99848584 99848584 T - DEL PNISR ENST00000369239 human ensembl 74_37 -1 known frame_shift_del c.2250 p.K750fs 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 tier1 71 0 0.00 41 10 19.61 PNLIPRP1 0 genome.wustl.edu 37 10 118368594 118368594 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 118368594 118368594 G T SNP PNLIPRP1 ENST00000358834 human ensembl 74_37 +1 known missense c.1370 p.R457L 0.980 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 tier1 - - 37 0 0.00 45 5 10.00 PNMA2 0 genome.wustl.edu 37 8 26365709 26365709 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 26365709 26365709 G A SNP PNMA2 ENST00000522362 human ensembl 74_37 -1 known missense c.563 p.A188V 1.000 NULL pfam_Retrotrans_gag_dom - no_errors PNMA2 HGNC ENSG00000240694 tier1 - - 34 0 0.00 42 11 20.75 PNMAL1 0 genome.wustl.edu 37 19 46973894 46973894 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 46973894 46973894 G - DEL PNMAL1 ENST00000313683 human ensembl 74_37 -1 known frame_shift_del c.399 p.T134fs 0.000 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 tier1 39 0 0.00 35 8 18.60 PNPLA1 0 genome.wustl.edu 37 6 36260882 36260882 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 36260882 36260882 C - DEL PNPLA1 ENST00000457797 human ensembl 74_37 +1 known frame_shift_del c.486 p.P164fs 0.985 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 tier1 80 0 0.00 64 7 9.86 POLA1 0 genome.wustl.edu 37 X 24735597 24735597 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 24735597 24735597 C A SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known silent c.897 p.T299 0.000 tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,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 POLA1 HGNC ENSG00000101868 tier1 - - 38 0 0.00 17 7 28.00 POLE 0 genome.wustl.edu 37 12 133219301 133219301 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 133219301 133219301 C - DEL POLE ENST00000320574 human ensembl 74_37 -1 known frame_shift_del c.4743 p.T1583fs 0.930 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 26 0 0.00 20 3 13.04 POLE 0 genome.wustl.edu 37 12 133241907 133241907 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 133241907 133241907 C A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.2449 p.G817C 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 44 0 0.00 36 11 23.40 POLG 0 genome.wustl.edu 37 15 89876828 89876830 + In_Frame_Del DEL TGC TGC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 89876828 89876830 TGC - DEL POLG ENST00000268124 human ensembl 74_37 -1 known in_frame_del c.158_156 p.Q55in_frame_del 0.005:0.011:0.014 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 tier1 40 0 0.00 24 3 11.11 POLR2B 0 genome.wustl.edu 37 4 57877007 57877007 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 57877007 57877007 T C SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.1642 p.W548R 1.000 NULL pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 tier1 - - 37 0 0.00 37 11 22.92 POLR3A 0 genome.wustl.edu 37 10 79761979 79761979 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 79761979 79761979 T C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.2335 p.T779A 1.000 pfam_RNA_pol_Rpb1_4 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 tier1 - - 23 0 0.00 31 8 20.51 POLR3A 0 genome.wustl.edu 37 10 79782027 79782027 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 79782027 79782027 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.761 p.R254Q 1.000 pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N 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 tier1 - - 41 0 0.00 26 7 21.21 POLR3A 0 genome.wustl.edu 37 10 79785947 79785947 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 79785947 79785947 G A SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.85 p.R29C 1.000 pfam_RNA_pol_Rpb1_1 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 tier1 - - 60 0 0.00 34 6 15.00 POLR3D 0 genome.wustl.edu 37 8 22105405 22105405 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 22105405 22105405 G A SNP POLR3D ENST00000397802 human ensembl 74_37 +1 known missense c.245 p.R82H 0.998 NULL pfam_RPC4 - no_errors POLR3D HGNC ENSG00000168495 tier1 - - 41 0 0.00 41 7 14.58 POLRMT 0 genome.wustl.edu 37 19 621241 621241 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 621241 621241 G A SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known silent c.2457 p.D819 1.000 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 tier1 - - 68 0 0.00 57 6 9.52 POM121 0 genome.wustl.edu 37 7 72418968 72418968 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 72418968 72418968 C T SNP POM121 ENST00000395270 human ensembl 74_37 +1 known missense c.2959 p.R987W 0.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 tier1 rs143664457 - 124 0 0.00 77 17 18.09 POM121L9P 0 genome.wustl.edu 37 22 24659492 24659492 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 24659492 24659492 G T SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors POM121L9P HGNC ENSG00000128262 tier1 - - 107 0 0.00 89 36 28.80 POSTN 0 genome.wustl.edu 37 13 38154786 38154786 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 38154786 38154786 T C SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1441 p.R481G 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 111 0 0.00 82 32 28.07 POSTN 0 genome.wustl.edu 37 13 38156600 38156600 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 38156600 38156600 T G SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1295 p.H432P 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 108 0 0.00 43 27 38.57 POU3F3 0 genome.wustl.edu 37 2 105472906 105472906 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 105472906 105472906 A G SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.938 p.D313G 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 tier1 - - 63 0 0.00 40 5 11.11 POU4F3 0 genome.wustl.edu 37 5 145719506 145719506 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 145719506 145719506 C T SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known silent c.516 p.A172 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 tier1 - - 44 0 0.00 29 5 14.71 POU5F1 0 genome.wustl.edu 37 6 31132949 31132949 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 31132949 31132949 G A SNP POU5F1 ENST00000259915 human ensembl 74_37 -1 known nonsense c.772 p.Q258* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1 HGNC ENSG00000204531 tier1 - - 60 0 0.00 41 11 21.15 PPAN-P2RY11 0 genome.wustl.edu 37 19 10217080 10217080 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10217080 10217080 T A SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known missense c.10 p.S4T 0.147 NULL pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 tier1 - - 22 0 0.00 17 4 19.05 PPAN-P2RY11 0 genome.wustl.edu 37 19 10224313 10224313 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10224313 10224313 C T SNP PPAN-P2RY11 ENST00000428358 human ensembl 74_37 +1 novel missense c.1346 p.P449L 0.016 NULL pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors PPAN-P2RY11 HGNC ENSG00000243207 tier1 - - 76 0 0.00 57 4 6.45 PPAPDC3 0 genome.wustl.edu 37 9 134183419 134183419 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 134183419 134183419 C T SNP PPAPDC3 ENST00000372264 human ensembl 74_37 +1 known silent c.561 p.Y187 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 tier1 rs139765954 - 56 0 0.00 52 8 13.33 PPARGC1A 0 genome.wustl.edu 37 4 23797449 23797449 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 23797449 23797449 C T SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.2393 p.R798K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 tier1 - - 36 0 0.00 30 10 25.00 PPIG 0 genome.wustl.edu 37 2 170465183 170465183 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 170465183 170465183 G A SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.292 p.E98K 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 tier1 - - 52 0 0.00 37 4 9.76 PPM1D 0 genome.wustl.edu 37 17 58740624 58740624 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 58740624 58740624 A - DEL PPM1D ENST00000305921 human ensembl 74_37 +1 known frame_shift_del c.1529 p.N512fs 0.997 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 tier1 37 0 0.00 38 2 5.00 PPM1H 0 genome.wustl.edu 37 12 63195670 63195670 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 63195670 63195670 G A SNP PPM1H ENST00000228705 human ensembl 74_37 -1 known missense c.682 p.R228C 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 tier1 - - 41 0 0.00 23 12 34.29 PPOX 0 genome.wustl.edu 37 1 161137885 161137886 + Frame_Shift_Del DEL CA CA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 161137885 161137886 CA - DEL PPOX ENST00000352210 human ensembl 74_37 +1 known frame_shift_del c.439_440 p.H147fs 1.000:1.000 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 tier1 52 0 0.00 34 6 15.00 PPP1CC 0 genome.wustl.edu 37 12 111180637 111180637 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 111180637 111180637 C - DEL PPP1CC ENST00000551690 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors PPP1CC HGNC ENSG00000186298 tier1 22 0 0.00 13 3 18.75 PPP1R12B 0 genome.wustl.edu 37 1 202549938 202549938 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 202549938 202549938 C T SNP PPP1R12B ENST00000290419 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors PPP1R12B HGNC ENSG00000077157 tier1 - - 50 0 0.00 49 4 7.55 PPP1R13L 0 genome.wustl.edu 37 19 45899677 45899677 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 45899677 45899677 G T SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known silent c.730 p.R244 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 tier1 - - 82 0 0.00 59 12 16.67 PPP1R14B 0 genome.wustl.edu 37 11 64014017 64014017 + Silent SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 64014017 64014017 C G SNP PPP1R14B ENST00000309318 human ensembl 74_37 -1 known silent c.129 p.G43 0.000 superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 49 0 0.00 32 4 11.11 PPP1R26 0 genome.wustl.edu 37 9 138379043 138379043 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 138379043 138379043 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2687 p.V898fs 0.002 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 67 0 0.00 34 17 33.33 PPP1R37 0 genome.wustl.edu 37 19 45648386 45648386 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 45648386 45648386 C T SNP PPP1R37 ENST00000221462 human ensembl 74_37 +1 known silent c.1164 p.S388 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 tier1 - - 37 0 0.00 37 8 17.78 PPP1R9A 0 genome.wustl.edu 37 7 94791228 94791228 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 94791228 94791228 G A SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.1699 p.G567S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 tier1 - - 55 0 0.00 54 7 11.48 PPP2R1B 0 genome.wustl.edu 37 11 111626165 111626165 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 111626165 111626165 G A SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known missense c.697 p.R233C 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 31 0 0.00 29 2 6.45 PPP2R5B 0 genome.wustl.edu 37 11 64697795 64697795 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 64697795 64697795 T C SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known missense c.724 p.F242L 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 tier1 - - 44 0 0.00 35 8 18.60 PPP4C 0 genome.wustl.edu 37 16 30087711 30087711 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 30087711 30087711 A G SNP PPP4C ENST00000279387 human ensembl 74_37 +1 known missense c.13 p.S5G 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP4C HGNC ENSG00000149923 44 0 0.00 69 4 5.41 PPP4R1 0 genome.wustl.edu 37 18 9547802 9547802 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 9547802 9547802 C T SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known silent c.2838 p.A946 0.272 NULL pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 tier1 - - 18 0 0.00 17 6 26.09 PPP4R1 0 genome.wustl.edu 37 18 9549281 9549281 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 9549281 9549281 G A SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known missense c.2603 p.P868L 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 tier1 - - 55 0 0.00 47 4 7.84 PRB1 0 genome.wustl.edu 37 12 11506732 11506732 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 11506732 11506732 G T SNP PRB1 ENST00000500254 human ensembl 74_37 -1 known missense c.305 p.P102Q 0.003 NULL NULL - no_errors PRB1 HGNC ENSG00000251655 tier1 - - 173 0 0.00 123 16 11.51 PRB2 0 genome.wustl.edu 37 12 11546379 11546379 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 11546379 11546379 T C SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known silent c.633 p.K211 0.102 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 tier1 - - 86 0 0.00 92 7 6.86 PRB2 0 genome.wustl.edu 37 12 11546381 11546381 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 11546381 11546381 T G SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known missense c.631 p.K211Q 0.033 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 tier1 rs201455726 - 85 0 0.00 95 8 7.77 PRCD 0 genome.wustl.edu 37 17 74540516 74540517 + RNA INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 74540516 74540517 - C INS PRCD ENST00000397633 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PRCD HGNC ENSG00000214140 tier1 33 0 0.00 23 6 20.69 PRDM10 0 genome.wustl.edu 37 11 129827675 129827675 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 129827675 129827675 G A SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.200 p.T67M 0.999 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 tier1 - - 38 0 0.00 24 10 29.41 PRDM13 0 genome.wustl.edu 37 6 100062377 100062377 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 100062377 100062377 G A SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known silent c.1866 p.L622 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 tier1 - - 52 0 0.00 36 14 28.00 PRDM4 0 genome.wustl.edu 37 12 108128295 108128295 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 108128295 108128295 G A SNP PRDM4 ENST00000228437 human ensembl 74_37 -1 known missense c.2098 p.R700C 1.000 pirsf_Znf_PRDM4,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM4 HGNC ENSG00000110851 32 0 0.00 24 8 25.00 PRG4 0 genome.wustl.edu 37 1 186273952 186273954 + In_Frame_Del DEL TCC TCC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 186273952 186273954 TCC - DEL PRG4 ENST00000445192 human ensembl 74_37 +1 known in_frame_del c.496_498 p.S169in_frame_del 1.000:1.000:1.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 47 0 0.00 46 18 28.12 PRG4 0 genome.wustl.edu 37 1 186276771 186276771 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 186276771 186276771 C T SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known silent c.1920 p.P640 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 rs142961862 - 76 0 0.00 44 19 30.16 PRKCB 0 genome.wustl.edu 37 16 24105543 24105543 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 24105543 24105543 T C SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.746 p.L249S 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,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_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 74 0 0.00 59 14 19.18 PRKCZ 0 genome.wustl.edu 37 1 2116391 2116391 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 2116391 2116391 G A SNP PRKCZ ENST00000378567 human ensembl 74_37 +1 known silent c.1722 p.E574 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_PKC_zeta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 tier1 - - 57 0 0.00 39 7 15.22 PRKD1 0 genome.wustl.edu 37 14 30046584 30046584 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 30046584 30046584 G T SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.2599 p.L867M 0.029 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 tier1 - - 55 0 0.00 31 14 31.11 PRKDC 0 genome.wustl.edu 37 8 48767818 48767818 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 48767818 48767818 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.6723 p.V2241 0.976 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 tier1 - - 49 0 0.00 68 4 5.56 PRKDC 0 genome.wustl.edu 37 8 48776098 48776098 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 48776098 48776098 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.5609 p.M1870T 1.000 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 tier1 - - 41 0 0.00 62 14 18.42 PRKG2 0 genome.wustl.edu 37 4 82061765 82061765 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 82061765 82061765 A G SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.1466 p.I489T 0.999 pfam_Prot_kinase_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_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_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,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 tier1 - - 24 0 0.00 26 4 13.33 PRKRIR 0 genome.wustl.edu 37 11 76062779 76062779 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 76062779 76062779 C T SNP PRKRIR ENST00000260045 human ensembl 74_37 -1 known missense c.1415 p.S472N 1.000 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 tier1 - - 56 0 0.00 56 5 8.20 PRKXP1 0 genome.wustl.edu 37 15 101088126 101088126 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 101088126 101088126 T - DEL PRKXP1 ENST00000602585 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-526I2.5 Clone_based_vega_gene ENSG00000270127 tier1 23 0 0.00 20 5 20.00 PRMT8 0 genome.wustl.edu 37 12 3600863 3600863 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 3600863 3600863 C A SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known silent c.72 p.T24 0.999 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 tier1 - - 22 0 0.00 21 5 19.23 PROB1 0 genome.wustl.edu 37 5 138728473 138728473 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 138728473 138728473 C A SNP PROB1 ENST00000434752 human ensembl 74_37 -1 known missense c.2298 p.Q766H 0.575 NULL NULL - no_errors PROB1 HGNC ENSG00000228672 tier1 - - 40 0 0.00 28 13 31.71 PROX1 0 genome.wustl.edu 37 1 214169975 214169975 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 214169975 214169975 T - DEL PROX1 ENST00000261454 human ensembl 74_37 +1 known frame_shift_del c.97 p.F34fs 1.000 NULL pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 67 0 0.00 57 9 13.64 PRPF40A 0 genome.wustl.edu 37 2 153520287 153520288 + Splice_Site INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 153520287 153520288 - A INS PRPF40A ENST00000410080 human ensembl 74_37 -1 known splice_site_ins c.1972-3_1972-2 e19-2 1.000:0.141 - - - no_errors PRPF40A HGNC ENSG00000196504 tier1 49 0 0.00 35 12 25.53 PRPF40B 0 genome.wustl.edu 37 12 50026386 50026386 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 50026386 50026386 C T SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.302 p.P101L 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 tier1 - - 69 0 0.00 57 4 6.56 PRPF4B 0 genome.wustl.edu 37 6 4052975 4052975 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 4052975 4052975 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.2334 p.K780fs 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors PRPF4B HGNC ENSG00000112739 tier1 30 0 0.00 43 8 15.69 PRPF8 0 genome.wustl.edu 37 17 1582092 1582092 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 1582092 1582092 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known silent c.1683 p.H561 0.891 pfam_PROCN,superfamily_Histone-fold pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 29 0 0.00 8 2 20.00 PRR12 0 genome.wustl.edu 37 19 50097858 50097858 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 50097858 50097858 C A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.347 p.P116H 0.999 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 tier1 - - 62 0 0.00 42 5 10.64 PRR14L 0 genome.wustl.edu 37 22 32099549 32099549 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 32099549 32099549 G - DEL PRR14L ENST00000397493 human ensembl 74_37 -1 known frame_shift_del c.5987 p.P1996fs 0.508 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 tier1 47 0 0.00 41 9 18.00 PRR14L 0 genome.wustl.edu 37 22 32111916 32111916 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 32111916 32111916 A G SNP PRR14L ENST00000397493 human ensembl 74_37 -1 known missense c.1909 p.C637R 0.015 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 tier1 - - 62 0 0.00 52 6 10.34 PRR5L 0 genome.wustl.edu 37 11 36472847 36472847 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 36472847 36472847 G T SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known missense c.674 p.S225I 0.931 NULL pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 tier1 - - 72 0 0.00 65 4 5.80 PRRC2B 0 genome.wustl.edu 37 9 134319642 134319642 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 134319642 134319642 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known silent c.540 p.G180 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 65 0 0.00 38 14 26.92 PRRC2C 0 genome.wustl.edu 37 1 171535520 171535520 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 171535520 171535520 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.6266 p.R2089Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 48 0 0.00 35 9 20.45 PRRT3 0 genome.wustl.edu 37 3 9989596 9989596 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 9989596 9989596 G A SNP PRRT3 ENST00000295984 human ensembl 74_37 -1 known nonsense c.1261 p.R421* 1.000 NULL NULL - no_errors PRRT3 HGNC ENSG00000163704 tier1 - - 27 0 0.00 13 4 23.53 PRSS22 0 genome.wustl.edu 37 16 2903146 2903146 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 2903146 2903146 C - DEL PRSS22 ENST00000161006 human ensembl 74_37 -1 known frame_shift_del c.902 p.G301fs 0.010 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 tier1 10 0 0.00 6 4 40.00 PRSS42 0 genome.wustl.edu 37 3 46875570 46875570 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 46875570 46875570 C T SNP PRSS42 ENST00000429665 human ensembl 74_37 -1 known missense c.16 p.G6S 0.000 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS42 HGNC ENSG00000178055 tier1 - - 39 0 0.00 20 11 35.48 PRSS51 0 genome.wustl.edu 37 8 10356254 10356254 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 10356254 10356254 C T SNP PRSS51 ENST00000521149 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors PRSS51 HGNC ENSG00000253649 tier1 - - 36 0 0.00 44 5 10.20 PSD4 0 genome.wustl.edu 37 2 113956432 113956432 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 113956432 113956432 C A SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.2740 p.L914M 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 23 0 0.00 11 4 26.67 PSD4 0 genome.wustl.edu 37 2 113956438 113956438 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 113956438 113956438 G A SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.2746 p.V916M 0.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 21 0 0.00 12 4 25.00 PSEN2 0 genome.wustl.edu 37 1 227078994 227078994 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 227078994 227078994 C T SNP PSEN2 ENST00000391872 human ensembl 74_37 +1 known missense c.1001 p.T334M 0.711 pfam_Peptidase_A22A,smart_Preselin/SPP pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC ENSG00000143801 tier1 rs144277432 - 47 0 0.00 33 10 23.26 PSG2 0 genome.wustl.edu 37 19 43585990 43585991 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 43585990 43585991 TT - DEL PSG2 ENST00000491995 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.005 - - - no_errors PSG2 HGNC ENSG00000242221 tier1 20 0 0.00 10 7 41.18 PSG8 0 genome.wustl.edu 37 19 43257204 43257204 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 43257204 43257204 C A SNP PSG8 ENST00000600709 human ensembl 74_37 -1 known rna NULL NULL 0.070 - - - no_errors PSG8 HGNC ENSG00000124467 tier1 - - 18 0 0.00 16 6 27.27 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 tier1 41 0 0.00 27 10 27.03 PSMD1 0 genome.wustl.edu 37 2 232030597 232030597 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 232030597 232030597 A - DEL PSMD1 ENST00000308696 human ensembl 74_37 +1 known frame_shift_del c.2581 p.K862fs 1.000 pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 tier1 41 0 0.00 30 5 14.29 PSME4 0 genome.wustl.edu 37 2 54093345 54093345 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 54093345 54093345 T - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.5413 p.T1805fs 1.000 pfam_DUF3437,superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 tier1 52 0 0.00 48 11 18.64 PSMF1 0 genome.wustl.edu 37 20 1145699 1145699 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 1145699 1145699 C T SNP PSMF1 ENST00000333082 human ensembl 74_37 +1 known missense c.791 p.P264L 1.000 NULL pfam_FP_dom,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 tier1 - - 65 0 0.00 40 4 9.09 PSPH 0 genome.wustl.edu 37 7 56079283 56079285 + RNA DEL AAA AAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 56079283 56079285 AAA - DEL PSPH ENST00000459834 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001:0.001 - - - no_errors PSPH HGNC ENSG00000146733 tier1 23 0 0.00 14 5 26.32 PTCH1 0 genome.wustl.edu 37 9 98211549 98211549 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 98211549 98211549 G - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.3606 p.S1203fs 0.012 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 76 0 0.00 57 12 17.39 PTCH1 0 genome.wustl.edu 37 9 98244509 98244509 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 98244509 98244509 A - DEL PTCH1 ENST00000550914 human ensembl 74_37 -1 known frame_shift_del c.143 p.L48fs 0.653 NULL NULL - no_errors PTCH1 HGNC ENSG00000185920 tier1 40 0 0.00 25 3 10.71 PTEN 0 genome.wustl.edu 37 10 89720738 89720738 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 89720738 89720738 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.889 p.D297N 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 - - 52 0 0.00 45 11 19.64 PTENP1 0 genome.wustl.edu 37 9 33674344 33674346 + RNA DEL TTT TTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 33674344 33674346 TTT - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.837:0.842:0.847 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 17 0 0.00 12 5 29.41 PTENP1 0 genome.wustl.edu 37 9 33676993 33676993 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 33676993 33676993 C T SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.070 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 - - 11 0 0.00 8 5 38.46 PTF1A 0 genome.wustl.edu 37 10 23481496 23481496 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 23481496 23481496 C A SNP PTF1A ENST00000376504 human ensembl 74_37 +1 known missense c.37 p.L13I 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors PTF1A HGNC ENSG00000168267 tier1 - - 49 0 0.00 32 8 20.00 PTN 0 genome.wustl.edu 37 7 136938294 136938294 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 136938294 136938294 C T SNP PTN ENST00000348225 human ensembl 74_37 -1 known missense c.206 p.G69D 1.000 pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 25 0 0.00 22 2 8.33 PTOV1 0 genome.wustl.edu 37 19 50363527 50363527 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 50363527 50363527 G - DEL PTOV1 ENST00000391842 human ensembl 74_37 +1 known frame_shift_del c.1242 p.*417fs 1.000 NULL pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 tier1 78 0 0.00 44 29 39.73 PTPLAD1 0 genome.wustl.edu 37 15 65868695 65868695 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 65868695 65868695 A - DEL PTPLAD1 ENST00000261875 human ensembl 74_37 +1 known frame_shift_del c.1067 p.K358fs 1.000 NULL pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTPLAD1 HGNC ENSG00000074696 tier1 41 0 0.00 27 8 22.86 PTPLAD1 0 genome.wustl.edu 37 15 65868701 65868701 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 65868701 65868701 A G SNP PTPLAD1 ENST00000261875 human ensembl 74_37 +1 known missense c.1073 p.K358R 1.000 NULL pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTPLAD1 HGNC ENSG00000074696 39 0 0.00 33 5 13.16 PTPLAD1 0 genome.wustl.edu 37 15 65868702 65868702 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 65868702 65868702 G A SNP PTPLAD1 ENST00000261875 human ensembl 74_37 +1 known silent c.1074 p.K358 1.000 NULL pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTPLAD1 HGNC ENSG00000074696 39 0 0.00 32 5 13.51 PTPN21 0 genome.wustl.edu 37 14 89016861 89016861 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 89016861 89016861 A G SNP PTPN21 ENST00000554628 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 57 0 0.00 59 11 15.71 PTPRA 0 genome.wustl.edu 37 20 3001962 3001962 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 3001962 3001962 G A SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.1082 p.C361Y 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_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-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 tier1 - - 82 0 0.00 53 6 10.17 PTPRC 0 genome.wustl.edu 37 1 198697519 198697519 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 198697519 198697519 T C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1771 p.S591P 1.000 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 91 0 0.00 75 29 27.88 PTPRH 0 genome.wustl.edu 37 19 55697597 55697597 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 55697597 55697597 C T SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.2774 p.G925D 0.976 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 tier1 - - 64 0 0.00 47 12 20.34 PTPRK 0 genome.wustl.edu 37 6 128321225 128321225 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 128321225 128321225 A - DEL PTPRK ENST00000524481 human ensembl 74_37 -1 known rna NULL NULL 0.625 - - - no_errors PTPRK HGNC ENSG00000152894 tier1 11 0 0.00 11 7 38.89 PTPRM 0 genome.wustl.edu 37 18 7955190 7955190 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 7955190 7955190 G A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.910 p.A304T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 32 0 0.00 23 10 30.30 PTPRN 0 genome.wustl.edu 37 2 220161986 220161986 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 220161986 220161986 T C SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.2057 p.N686S 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 tier1 - - 73 0 0.00 57 9 13.64 PTPRVP 0 genome.wustl.edu 37 1 202140354 202140354 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 202140354 202140354 G T SNP PTPRVP ENST00000482597 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors PTPRVP HGNC ENSG00000243323 tier1 - - 51 0 0.00 50 4 7.41 PXDN 0 genome.wustl.edu 37 2 1652402 1652402 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 1652402 1652402 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.3150 p.Y1050 0.676 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 29 0 0.00 14 3 17.65 PXDN 0 genome.wustl.edu 37 2 1677547 1677547 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 1677547 1677547 A G SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.886 p.L296 0.617 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 55 0 0.00 29 12 29.27 PXDN 0 genome.wustl.edu 37 2 1680771 1680771 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 1680771 1680771 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.776 p.S259L 0.921 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 44 0 0.00 26 15 36.59 PYCR1 0 genome.wustl.edu 37 17 79892835 79892835 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 79892835 79892835 G A SNP PYCR1 ENST00000329875 human ensembl 74_37 -1 known silent c.507 p.A169 0.877 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR1 HGNC ENSG00000183010 tier1 - - 73 0 0.00 51 8 13.56 PYROXD1 0 genome.wustl.edu 37 12 21608074 21608074 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 21608074 21608074 T A SNP PYROXD1 ENST00000240651 human ensembl 74_37 +1 known missense c.497 p.I166N 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 tier1 - - 40 0 0.00 28 7 19.44 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 tier1 66 0 0.00 65 13 16.67 RAB11FIP1 0 genome.wustl.edu 37 8 37728987 37728987 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 37728987 37728987 G T SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known silent c.3333 p.P1111 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 tier1 - - 52 0 0.00 73 4 5.19 RAB11FIP2 0 genome.wustl.edu 37 10 119768615 119768615 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 119768615 119768615 T C SNP RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known missense c.1493 p.E498G 1.000 pfam_Rab-bd_FIP-RBD pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 tier1 - - 44 0 0.00 44 5 10.20 RAB13 0 genome.wustl.edu 37 1 153954703 153954703 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 153954703 153954703 G A SNP RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RAB13 HGNC ENSG00000143545 tier1 - - 61 0 0.00 57 5 8.06 RAB20 0 genome.wustl.edu 37 13 111176254 111176254 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 111176254 111176254 C T SNP RAB20 ENST00000267328 human ensembl 74_37 -1 known missense c.463 p.V155M 0.014 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB20 HGNC ENSG00000139832 tier1 - - 43 0 0.00 30 13 30.23 RAB35 0 genome.wustl.edu 37 12 120534289 120534289 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 120534289 120534289 G A SNP RAB35 ENST00000432953 human ensembl 74_37 -1 known missense c.761 p.S254F 0.024 NULL NULL - no_errors RAB35 HGNC ENSG00000111737 39 0 0.00 24 4 14.29 RAB3B 0 genome.wustl.edu 37 1 52385688 52385688 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 52385688 52385688 G T SNP RAB3B ENST00000371655 human ensembl 74_37 -1 known missense c.571 p.L191M 0.158 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,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 RAB3B HGNC ENSG00000169213 tier1 - - 32 0 0.00 21 3 12.50 RABEPK 0 genome.wustl.edu 37 9 127990265 127990265 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 127990265 127990265 A G SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known silent c.603 p.A201 0.997 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 tier1 - - 69 0 0.00 64 4 5.88 RABGAP1L 0 genome.wustl.edu 37 1 174517133 174517133 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 174517133 174517133 G A SNP RABGAP1L ENST00000357444 human ensembl 74_37 +1 known silent c.1758 p.E586 0.000 NULL pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors RABGAP1L HGNC ENSG00000152061 tier1 - - 65 0 0.00 70 6 7.89 RAD21 0 genome.wustl.edu 37 8 117862896 117862898 + In_Frame_Del DEL CTT CTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 117862896 117862898 CTT - DEL RAD21 ENST00000297338 human ensembl 74_37 -1 known in_frame_del c.1581_1579 p.K527in_frame_del 1.000:1.000:1.000 pfam_ScpA pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 tier1 68 0 0.00 47 14 22.95 RAD54L2 0 genome.wustl.edu 37 3 51680478 51680478 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 51680478 51680478 G A SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.3007 p.A1003T 0.999 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 tier1 rs143819415 - 29 0 0.00 12 10 45.45 RALGAPA2 0 genome.wustl.edu 37 20 20565580 20565580 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 20565580 20565580 C T SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.2459 p.S820N 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 tier1 - - 32 0 0.00 26 4 13.33 RALGAPB 0 genome.wustl.edu 37 20 37146233 37146233 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 37146233 37146233 C - DEL RALGAPB ENST00000262879 human ensembl 74_37 +1 known frame_shift_del c.1136 p.P381fs 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 tier1 104 0 0.00 57 20 25.97 RAN 0 genome.wustl.edu 37 12 131360212 131360212 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 131360212 131360212 T G SNP RAN ENST00000392369 human ensembl 74_37 +1 known missense c.491 p.L164R 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAN HGNC ENSG00000132341 tier1 - - 78 0 0.00 57 20 25.64 RAP1GDS1 0 genome.wustl.edu 37 4 99363154 99363154 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 99363154 99363154 G A SNP RAP1GDS1 ENST00000339360 human ensembl 74_37 +1 known silent c.1713 p.K571 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 tier1 - - 43 0 0.00 40 9 18.37 RAPGEF1 0 genome.wustl.edu 37 9 134501680 134501680 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 134501680 134501680 C T SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.1334 p.G445D 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 tier1 - - 64 0 0.00 46 23 33.33 RAPGEF2 0 genome.wustl.edu 37 4 160225603 160225603 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 160225603 160225603 G A SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.170 p.S57N 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 tier1 - - 61 0 0.00 64 7 9.86 RAPGEF4 0 genome.wustl.edu 37 2 173885367 173885367 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 173885367 173885367 A G SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.2177 p.N726S 1.000 pfam_Ras-assoc,superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 59 0 0.00 38 17 30.91 RAPH1 0 genome.wustl.edu 37 2 204309641 204309641 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 204309641 204309641 C T SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.1882 p.V628I 1.000 superfamily_Kinase-like_dom pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 tier1 - - 69 0 0.00 41 21 33.87 RASA1 0 genome.wustl.edu 37 5 86669996 86669996 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 86669996 86669996 T C SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.1793 p.L598S 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 53 0 0.00 38 6 13.64 RASA1 0 genome.wustl.edu 37 5 86675571 86675571 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 86675571 86675571 A - DEL RASA1 ENST00000274376 human ensembl 74_37 +1 known frame_shift_del c.2507 p.N838fs 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 50 0 0.00 29 5 14.71 RASA1 0 genome.wustl.edu 37 5 86675607 86675607 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 86675607 86675607 T C SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.2543 p.L848P 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 46 0 0.00 30 6 16.67 RASAL1 0 genome.wustl.edu 37 12 113537619 113537619 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 113537619 113537619 C T SNP RASAL1 ENST00000549444 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RASAL1 HGNC ENSG00000111344 tier1 - - 24 0 0.00 23 5 17.86 RASAL2 0 genome.wustl.edu 37 1 178436542 178436542 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 178436542 178436542 A T SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.3664 p.I1222L 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 22 0 0.00 34 4 10.53 RASAL2-AS1 0 genome.wustl.edu 37 1 178062370 178062370 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 178062370 178062370 C T SNP RASAL2-AS1 ENST00000419458 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RASAL2-AS1 HGNC ENSG00000224687 tier1 - - 38 0 0.00 38 4 9.52 RASEF 0 genome.wustl.edu 37 9 85637251 85637251 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 85637251 85637251 G A SNP RASEF ENST00000376447 human ensembl 74_37 -1 known silent c.669 p.D223 0.080 superfamily_Vinculin/catenin pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 tier1 - - 54 0 0.00 45 16 26.23 RASGRP1 0 genome.wustl.edu 37 15 38786678 38786678 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 38786678 38786678 G A SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known missense c.2164 p.R722W 1.000 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 tier1 - - 54 0 0.00 25 14 35.90 RAVER2 0 genome.wustl.edu 37 1 65296647 65296647 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 65296647 65296647 A - DEL RAVER2 ENST00000294428 human ensembl 74_37 +1 known frame_shift_del c.2055 p.K687fs 0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 tier1 65 0 0.00 47 11 18.97 RB1CC1 0 genome.wustl.edu 37 8 53554985 53554985 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 53554985 53554985 T C SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known silent c.4263 p.S1421 0.018 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 tier1 - - 53 0 0.00 45 8 15.09 RB1CC1 0 genome.wustl.edu 37 8 53574183 53574183 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 53574183 53574183 A T SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known missense c.1270 p.L424M 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 tier1 - - 47 0 0.00 58 8 12.12 RBBP4 0 genome.wustl.edu 37 1 33134598 33134598 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 33134598 33134598 C T SNP RBBP4 ENST00000373493 human ensembl 74_37 +1 known missense c.626 p.A209V 0.999 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 tier1 - - 22 0 0.00 12 4 25.00 RBBP6 0 genome.wustl.edu 37 16 24583221 24583221 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 24583221 24583221 G A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.4834 p.V1612I 0.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 tier1 - - 47 0 0.00 35 7 16.67 RBBP8 0 genome.wustl.edu 37 18 20606158 20606158 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 20606158 20606158 T C SNP RBBP8 ENST00000399725 human ensembl 74_37 +1 known missense c.2552 p.L851P 1.000 NULL pfam_CtIP_N - no_errors RBBP8 HGNC ENSG00000101773 tier1 - - 50 0 0.00 41 5 10.87 RBFOX3 0 genome.wustl.edu 37 17 77093503 77093503 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 77093503 77093503 G A SNP RBFOX3 ENST00000415831 human ensembl 74_37 -1 known missense c.626 p.T209M 1.000 pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX3 HGNC ENSG00000167281 22 0 0.00 13 5 27.78 RBL1 0 genome.wustl.edu 37 20 35689630 35689630 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 35689630 35689630 A G SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known missense c.1126 p.Y376H 0.988 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 tier1 - - 49 0 0.00 50 9 15.25 RBL2 0 genome.wustl.edu 37 16 53488648 53488648 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 53488648 53488648 C T SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known missense c.1073 p.A358V 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 tier1 - - 88 0 0.00 85 7 7.53 RBM12 0 genome.wustl.edu 37 20 34242923 34242923 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 34242923 34242923 G T SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known missense c.322 p.P108T 0.494 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 tier1 - - 67 0 0.00 48 4 7.69 RBM24 0 genome.wustl.edu 37 6 17283276 17283276 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 17283276 17283276 A G SNP RBM24 ENST00000504055 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RBM24 HGNC ENSG00000112183 tier1 - - 11 0 0.00 7 7 50.00 RBM25 0 genome.wustl.edu 37 14 73570072 73570072 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 73570072 73570072 G A SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.1040 p.R347Q 1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 tier1 - - 21 0 0.00 16 12 42.86 RBM33 0 genome.wustl.edu 37 7 155504069 155504070 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 155504069 155504070 0 T INS RBM33 ENST00000401878 human ensembl 74_37 +1 known frame_shift_ins c.1121_1122 p.P375fs 0.998:0.029 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 92 0 0.00 82 8 8.89 RBMXL1 0 genome.wustl.edu 37 1 89449530 89449530 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 89449530 89449530 C T SNP RBMXL1 ENST00000413769 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RBMXL1 HGNC ENSG00000213516 tier1 - - 68 0 0.00 30 5 14.29 RBPJL 0 genome.wustl.edu 37 20 43940969 43940969 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 43940969 43940969 C A SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.553 p.H185N 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 tier1 - - 95 0 0.00 56 11 16.42 RCC2 0 genome.wustl.edu 37 1 17749315 17749315 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 17749315 17749315 G T SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known missense c.541 p.Q181K 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 tier1 - - 67 0 0.00 39 11 22.00 RCE1 0 genome.wustl.edu 37 11 66612465 66612465 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 66612465 66612465 C A SNP RCE1 ENST00000309657 human ensembl 74_37 +1 known missense c.577 p.L193M 1.000 pfam_CAAX_protease pfam_CAAX_protease - no_errors RCE1 HGNC ENSG00000173653 46 0 0.00 31 2 6.06 RCHY1 0 genome.wustl.edu 37 4 76407852 76407852 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 76407852 76407852 G A SNP RCHY1 ENST00000324439 human ensembl 74_37 -1 known nonsense c.682 p.R228* 0.994 NULL pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RCHY1 HGNC ENSG00000163743 tier1 - - 40 0 0.00 31 15 32.61 RDH5 0 genome.wustl.edu 37 12 56117811 56117812 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 56117811 56117812 - G INS RDH5 ENST00000257895 human ensembl 74_37 +1 known frame_shift_ins c.711_712 p.A239fs 0.947:1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH5 HGNC ENSG00000135437 tier1 67 0 0.00 57 8 12.31 RECK 0 genome.wustl.edu 37 9 36066767 36066767 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 36066767 36066767 C A SNP RECK ENST00000475774 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RECK HGNC ENSG00000122707 tier1 - - 45 0 0.00 39 8 17.02 RECK 0 genome.wustl.edu 37 9 36102113 36102113 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 36102113 36102113 A - DEL RECK ENST00000377966 human ensembl 74_37 +1 known frame_shift_del c.1321 p.K442fs 1.000 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 tier1 85 0 0.00 53 13 19.70 RELB 0 genome.wustl.edu 37 19 45537526 45537526 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 45537526 45537526 G A SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.1232 p.R411Q 1.000 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 tier1 - - 125 0 0.00 105 36 25.35 RELN 0 genome.wustl.edu 37 7 103137131 103137131 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 103137131 103137131 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.9035 p.A3012V 0.999 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 51 0 0.00 30 4 11.76 RELN 0 genome.wustl.edu 37 7 103629675 103629675 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 103629675 103629675 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.129 p.H43 1.000 pfscan_Reeler_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 77 0 0.00 84 17 16.83 REM1 0 genome.wustl.edu 37 20 30072036 30072036 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 30072036 30072036 G A SNP REM1 ENST00000201979 human ensembl 74_37 +1 known missense c.700 p.E234K 1.000 pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 tier1 - - 11 0 0.00 9 6 40.00 RERE 0 genome.wustl.edu 37 1 8555155 8555155 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 8555155 8555155 G A SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.1072 p.R358W 1.000 pfscan_ELM2_dom 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 tier1 - - 48 0 0.00 33 7 17.50 RERE 0 genome.wustl.edu 37 1 8419873 8419873 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 8419873 8419873 T C SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.3569 p.K1190R 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 89 0 0.00 64 5 7.25 RFX1 0 genome.wustl.edu 37 19 14104410 14104410 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 14104410 14104410 G A SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known silent c.246 p.P82 0.363 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 tier1 - - 100 0 0.00 73 24 24.49 RFX2 0 genome.wustl.edu 37 19 6013117 6013117 + Splice_Site SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 6013117 6013117 C A SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known splice_site c.780-1 e7-1 1.000 - - - no_errors RFX2 HGNC ENSG00000087903 tier1 - - 39 0 0.00 38 4 9.52 RFX2 0 genome.wustl.edu 37 19 6026217 6026218 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 6026217 6026218 - T INS RFX2 ENST00000303657 human ensembl 74_37 -1 known frame_shift_ins c.554_553 p.S185fs 0.999:1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 tier1 116 0 0.00 68 11 13.92 RFX5 0 genome.wustl.edu 37 1 151318680 151318680 + Splice_Site SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 151318680 151318680 C T SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known splice_site c.116+1 e1+1 1.000 - - - no_errors RFX5 HGNC ENSG00000143390 tier1 - - 56 0 0.00 53 13 19.70 RGPD3 0 genome.wustl.edu 37 2 107040056 107040056 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 107040056 107040056 G A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.4367 p.S1456L 0.273 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 52 0 0.00 42 11 20.75 RGS12 0 genome.wustl.edu 37 4 3344181 3344181 + RNA SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 3344181 3344181 C G SNP RGS12 ENST00000513784 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors RGS12 HGNC ENSG00000159788 tier1 - - 47 0 0.00 41 7 14.58 RGS12 0 genome.wustl.edu 37 4 3432431 3432431 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 3432431 3432431 C - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3863 p.1292fs 0.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 36 0 0.00 27 5 15.62 RHBDD2 0 genome.wustl.edu 37 7 75512837 75512837 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 75512837 75512837 A - DEL RHBDD2 ENST00000467406 human ensembl 74_37 +1 putative rna NULL NULL 0.010 - - - no_errors RHBDD2 HGNC ENSG00000005486 tier1 19 0 0.00 12 4 25.00 RHOBTB2 0 genome.wustl.edu 37 8 22862121 22862121 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 22862121 22862121 A G SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known silent c.174 p.Q58 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 tier1 - - 32 0 0.00 30 5 14.29 RIC3 0 genome.wustl.edu 37 11 8160039 8160039 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 8160039 8160039 A - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RIC3 HGNC ENSG00000166405 tier1 14 0 0.00 5 4 44.44 RIC3 0 genome.wustl.edu 37 11 8161539 8161539 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 8161539 8161539 A - DEL RIC3 ENST00000309737 human ensembl 74_37 -1 known frame_shift_del c.326 p.L109fs 1.000 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 tier1 82 0 0.00 66 20 23.26 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 tier1 25 0 0.00 21 11 34.38 RIMBP2 0 genome.wustl.edu 37 12 130926638 130926638 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 130926638 130926638 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.1208 p.T403M 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 56 0 0.00 24 10 29.41 RIMS1 0 genome.wustl.edu 37 6 72596814 72596814 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 72596814 72596814 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.88 p.E30K 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 131 0 0.00 117 16 12.03 RIMS1 0 genome.wustl.edu 37 6 72892166 72892166 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 72892166 72892166 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.992 p.P331L 0.888 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 43 0 0.00 45 6 11.76 RIMS1 0 genome.wustl.edu 37 6 73110999 73110999 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 73110999 73110999 A - DEL RIMS1 ENST00000431478 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors RIMS1 HGNC ENSG00000079841 tier1 19 0 0.00 14 6 30.00 RIN1 0 genome.wustl.edu 37 11 66100117 66100117 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 66100117 66100117 G A SNP RIN1 ENST00000311320 human ensembl 74_37 -1 known missense c.1982 p.T661I 0.981 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 tier1 - - 60 0 0.00 41 23 35.94 RIOK1 0 genome.wustl.edu 37 6 7398932 7398932 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 7398932 7398932 T A SNP RIOK1 ENST00000379834 human ensembl 74_37 +1 known missense c.439 p.Y147N 1.000 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 tier1 - - 66 0 0.00 64 8 11.11 RMDN3 0 genome.wustl.edu 37 15 41029894 41029894 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 41029894 41029894 T - DEL RMDN3 ENST00000260385 human ensembl 74_37 -1 known frame_shift_del c.1156 p.T386fs 1.000 NULL NULL - no_errors RMDN3 HGNC ENSG00000137824 tier1 90 0 0.00 67 11 14.10 RN7SL860P 0 genome.wustl.edu 37 19 22784509 22784509 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 22784509 22784509 A - DEL RN7SL860P ENST00000473738 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors RN7SL860P HGNC ENSG00000240713 tier1 21 0 0.00 18 11 37.93 RNASE11 0 genome.wustl.edu 37 14 21052229 21052229 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 21052229 21052229 G - DEL RNASE11 ENST00000398008 human ensembl 74_37 -1 known frame_shift_del c.405 p.S136fs 0.002 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE11 HGNC ENSG00000173464 tier1 58 0 0.00 36 11 23.40 RND3 0 genome.wustl.edu 37 2 151326627 151326630 + Frame_Shift_Del DEL TTTA TTTA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTTA TTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 151326627 151326630 TTTA - DEL RND3 ENST00000263895 human ensembl 74_37 -1 known frame_shift_del c.609_606 p.N202fs 1.000:1.000:1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,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 tier1 44 0 0.00 32 5 13.51 RNF123 0 genome.wustl.edu 37 3 49736506 49736506 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 49736506 49736506 C T SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known silent c.732 p.S244 0.908 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 tier1 - - 35 0 0.00 33 9 21.43 RNF123 0 genome.wustl.edu 37 3 49739823 49739823 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 49739823 49739823 C T SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known silent c.1614 p.N538 0.995 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 tier1 - - 33 0 0.00 20 5 20.00 RNF144A 0 genome.wustl.edu 37 2 7179767 7179767 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 7179767 7179767 G A SNP RNF144A ENST00000320892 human ensembl 74_37 +1 known missense c.755 p.G252D 1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF144A HGNC ENSG00000151692 tier1 - - 84 0 0.00 74 7 8.64 RNF20 0 genome.wustl.edu 37 9 104309733 104309733 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 104309733 104309733 G A SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known missense c.1025 p.R342H 1.000 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 tier1 - - 43 0 0.00 22 12 35.29 RNF207 0 genome.wustl.edu 37 1 6270328 6270328 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 6270328 6270328 C T SNP RNF207 ENST00000377948 human ensembl 74_37 +1 known silent c.165 p.H55 0.982 NULL NULL - no_errors RNF207 HGNC ENSG00000158286 tier1 - - 70 0 0.00 53 4 7.02 RNF213 0 genome.wustl.edu 37 17 78367233 78367233 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 78367233 78367233 C A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.15559 p.L5187I 0.477 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 59 0 0.00 51 17 25.00 RNF215 0 genome.wustl.edu 37 22 30775768 30775768 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 30775768 30775768 T C SNP RNF215 ENST00000382363 human ensembl 74_37 -1 known missense c.1043 p.H348R 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF215 HGNC ENSG00000099999 tier1 - - 30 0 0.00 29 6 17.14 RNF220 0 genome.wustl.edu 37 1 44877906 44877906 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 44877906 44877906 G A SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known missense c.137 p.R46Q 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 tier1 - - 54 0 0.00 45 8 15.09 RNF44 0 genome.wustl.edu 37 5 175959157 175959157 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 175959157 175959157 G A SNP RNF44 ENST00000274811 human ensembl 74_37 -1 known missense c.145 p.R49W 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF44 HGNC ENSG00000146083 tier1 - - 32 0 0.00 19 8 29.63 RNFT1 0 genome.wustl.edu 37 17 58040251 58040251 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 58040251 58040251 G A SNP RNFT1 ENST00000305783 human ensembl 74_37 -1 known silent c.451 p.L151 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT1 HGNC ENSG00000189050 tier1 - - 32 0 0.00 17 27 61.36 ROBO1 0 genome.wustl.edu 37 3 78685185 78685185 + Silent SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 78685185 78685185 A C SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known silent c.3111 p.V1037 0.991 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 80 0 0.00 72 20 21.74 ROBO1 0 genome.wustl.edu 37 3 78685252 78685252 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 78685252 78685252 C T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.3044 p.C1015Y 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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 53 0 0.00 37 15 28.85 ROBO4 0 genome.wustl.edu 37 11 124765468 124765468 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 124765468 124765468 G A SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known silent c.921 p.S307 0.969 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_dom - no_errors ROBO4 HGNC ENSG00000154133 21 0 0.00 11 3 21.43 ROCK1 0 genome.wustl.edu 37 18 18622641 18622641 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 18622641 18622641 A G SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known silent c.705 p.V235 1.000 pfam_Prot_kinase_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_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 tier1 - - 84 0 0.00 59 13 18.06 ROPN1B 0 genome.wustl.edu 37 3 125691017 125691017 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 125691017 125691017 C T SNP ROPN1B ENST00000504401 human ensembl 74_37 +1 putative silent c.120 p.Y40 0.224 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC ENSG00000114547 tier1 - - 43 0 0.00 54 4 6.90 ROR2 0 genome.wustl.edu 37 9 94538048 94538048 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 94538048 94538048 C A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.150 p.Q50H 0.013 pirsf_Tyr_kinase_rcpt_ROR pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 39 0 0.00 33 4 10.81 RP1L1 0 genome.wustl.edu 37 8 10470049 10470049 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 10470049 10470049 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.1559 p.R520H 0.154 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 37 0 0.00 39 5 11.36 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 tier1 49 0 0.00 43 25 36.76 RPN1 0 genome.wustl.edu 37 3 128348877 128348877 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 128348877 128348877 G T SNP RPN1 ENST00000296255 human ensembl 74_37 -1 known missense c.953 p.P318H 1.000 pfam_Ribophorin_I pfam_Ribophorin_I - no_errors RPN1 HGNC ENSG00000163902 tier1 - - 67 0 0.00 50 9 15.25 RPS6KA2 0 genome.wustl.edu 37 6 166889308 166889308 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 166889308 166889308 G A SNP RPS6KA2 ENST00000366863 human ensembl 74_37 -1 known silent c.465 p.C155 0.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 tier1 - - 104 0 0.00 48 11 18.64 RPS6KA4 0 genome.wustl.edu 37 11 64126867 64126869 + In_Frame_Del DEL GAG GAG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 64126867 64126869 GAG - DEL RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known in_frame_del c.73_75 p.E26in_frame_del 1.000:1.000:1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 tier1 90 0 0.00 47 19 28.79 RPTOR 0 genome.wustl.edu 37 17 78567121 78567121 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 78567121 78567121 G A SNP RPTOR ENST00000573746 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 43 0 0.00 25 9 26.47 RRAD 0 genome.wustl.edu 37 16 66957796 66957796 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 66957796 66957796 C T SNP RRAD ENST00000299759 human ensembl 74_37 -1 known missense c.397 p.V133M 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC ENSG00000166592 tier1 - - 42 0 0.00 24 18 42.86 RRAGD 0 genome.wustl.edu 37 6 90121614 90121614 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 90121614 90121614 G A SNP RRAGD ENST00000369415 human ensembl 74_37 -1 known silent c.99 p.D33 1.000 NULL pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGD HGNC ENSG00000025039 tier1 - - 32 0 0.00 13 7 35.00 RRBP1 0 genome.wustl.edu 37 20 17641107 17641107 + Nonsense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 17641107 17641107 C A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known nonsense c.46 p.G16* 1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 60 0 0.00 52 4 7.14 RRM2B 0 genome.wustl.edu 37 8 103236304 103236304 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 103236304 103236304 G A SNP RRM2B ENST00000251810 human ensembl 74_37 -1 known nonsense c.520 p.R174* 0.978 pfam_RNR_small,superfamily_Ferritin-like_SF pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2B HGNC ENSG00000048392 tier1 - - 48 0 0.00 51 10 16.39 RRN3P2 0 genome.wustl.edu 37 16 29110458 29110458 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 29110458 29110458 T C SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RRN3P2 HGNC ENSG00000103472 tier1 - - 76 0 0.00 113 24 17.52 RSBN1 0 genome.wustl.edu 37 1 114319836 114319836 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 114319836 114319836 G A SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known nonsense c.1654 p.R552* 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 tier1 - - 64 0 0.00 53 9 14.52 RSPH10B2 0 genome.wustl.edu 37 7 6831535 6831535 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 6831535 6831535 C A SNP RSPH10B2 ENST00000297186 human ensembl 74_37 +1 known missense c.2140 p.P714T 0.347 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 tier1 - - 23 0 0.00 24 8 25.00 RTN3 0 genome.wustl.edu 37 11 63525656 63525656 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 63525656 63525656 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.3082 p.K1030fs 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 tier1 38 0 0.00 26 14 35.00 RTN4 0 genome.wustl.edu 37 2 55209688 55209688 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 55209688 55209688 C T SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.3323 p.R1108H 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 tier1 - - 56 0 0.00 42 9 17.65 RTTN 0 genome.wustl.edu 37 18 67759942 67759942 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 67759942 67759942 G T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.4002 p.S1334 0.885 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 tier1 - - 51 0 0.00 44 8 15.38 RTTN 0 genome.wustl.edu 37 18 67863751 67863751 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 67863751 67863751 A - DEL RTTN ENST00000255674 human ensembl 74_37 -1 known frame_shift_del c.827 p.F276fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 tier1 89 0 0.00 64 8 11.11 RXFP2 0 genome.wustl.edu 37 13 32376432 32376432 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 32376432 32376432 A C SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.2155 p.K719Q 0.948 NULL pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 54 0 0.00 34 13 27.66 RXRB 0 genome.wustl.edu 37 6 33164130 33164130 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 33164130 33164130 G - DEL RXRB ENST00000413614 human ensembl 74_37 -1 known frame_shift_del c.786 p.S263fs 0.000 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors RXRB HGNC ENSG00000204231 tier1 90 0 0.00 51 28 35.44 RYR1 0 genome.wustl.edu 37 19 39038962 39038962 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 39038962 39038962 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.12184 p.D4062N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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 tier1 - - 73 0 0.00 46 14 23.33 RYR2 0 genome.wustl.edu 37 1 237993779 237993779 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 237993779 237993779 T - DEL RYR2 ENST00000462585 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RYR2 HGNC ENSG00000198626 tier1 99 0 0.00 65 19 22.62 RYR3 0 genome.wustl.edu 37 15 34077887 34077887 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 34077887 34077887 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.9293 p.E3098G 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 55 0 0.00 24 15 38.46 RYR3 0 genome.wustl.edu 37 15 33954455 33954455 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 33954455 33954455 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.4724 p.R1575L 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 32 0 0.00 23 2 8.00 S1PR2 0 genome.wustl.edu 37 19 10334909 10334909 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10334909 10334909 C T SNP S1PR2 ENST00000590320 human ensembl 74_37 -1 known missense c.673 p.A225T 0.174 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt,prints_GPCR_Rhodpsn,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt - no_errors S1PR2 HGNC ENSG00000267534 29 0 0.00 8 3 27.27 S1PR2 0 genome.wustl.edu 37 19 10335511 10335511 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10335511 10335511 G A SNP S1PR2 ENST00000590320 human ensembl 74_37 -1 known missense c.71 p.T24M 0.757 prints_EDG5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt,prints_GPCR_Rhodpsn,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt - no_errors S1PR2 HGNC ENSG00000267534 61 0 0.00 44 5 10.20 S1PR5 0 genome.wustl.edu 37 19 10625120 10625120 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 10625120 10625120 C T SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known missense c.568 p.A190T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 tier1 - - 60 0 0.00 55 10 15.38 SACS 0 genome.wustl.edu 37 13 23909409 23909409 + Missense_Mutation SNP C C G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 23909409 23909409 C G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.8606 p.C2869S 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 27 0 0.00 22 8 26.67 SAE1 0 genome.wustl.edu 37 19 47634198 47634200 + In_Frame_Del DEL AGG AGG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 47634198 47634200 AGG - DEL SAE1 ENST00000270225 human ensembl 74_37 +1 known in_frame_del c.11_13 p.E6in_frame_del 1.000:1.000:1.000 NULL pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like - no_errors SAE1 HGNC ENSG00000142230 tier1 142 0 0.00 124 34 21.52 SAFB 0 genome.wustl.edu 37 19 5661791 5661791 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 5661791 5661791 G A SNP SAFB ENST00000588852 human ensembl 74_37 +1 known missense c.2125 p.A709T 0.557 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 tier1 - - 76 0 0.00 58 7 10.77 SAMD1 0 genome.wustl.edu 37 19 14199586 14199586 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 14199586 14199586 C T SNP SAMD1 ENST00000533683 human ensembl 74_37 -1 novel missense c.1037 p.R346H 1.000 superfamily_SAM/pointed pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC ENSG00000141858 tier1 - - 68 0 0.00 56 4 6.67 SAR1A 0 genome.wustl.edu 37 10 71921648 71921648 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 71921648 71921648 G T SNP SAR1A ENST00000373238 human ensembl 74_37 -1 known silent c.24 p.I8 1.000 smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1A HGNC ENSG00000079332 tier1 - - 30 0 0.00 27 9 25.00 SASH1 0 genome.wustl.edu 37 6 148711274 148711274 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 148711274 148711274 G A SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.161 p.G54D 1.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 tier1 - - 66 0 0.00 48 9 15.79 SASH1 0 genome.wustl.edu 37 6 148865156 148865156 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 148865156 148865156 G A SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.2550 p.E850 0.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 40 0 0.00 25 3 10.71 SATL1 0 genome.wustl.edu 37 X 84363925 84363925 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 84363925 84363925 G T SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.50 p.A17E 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 tier1 - - 87 0 0.00 75 4 5.06 SBNO1 0 genome.wustl.edu 37 12 123798226 123798226 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 123798226 123798226 A G SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.3161 p.V1054A 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 35 0 0.00 30 4 11.76 SCAP 0 genome.wustl.edu 37 3 47460943 47460943 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 47460943 47460943 C A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.1815 p.E605D 0.985 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 tier1 - - 44 0 0.00 32 5 13.51 SCARNA18 0 genome.wustl.edu 37 5 82360128 82360128 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 82360128 82360128 G T SNP SCARNA18 ENST00000459004 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SCARNA18 HGNC ENSG00000238835 tier1 - - 29 0 0.00 34 4 10.53 SCD5 0 genome.wustl.edu 37 4 83582061 83582061 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 83582061 83582061 G T SNP SCD5 ENST00000273908 human ensembl 74_37 -1 known missense c.739 p.R247S 0.000 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 tier1 - - 93 0 0.00 42 20 32.26 SCD5 0 genome.wustl.edu 37 4 83601945 83601945 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 83601945 83601945 G A SNP SCD5 ENST00000319540 human ensembl 74_37 -1 known missense c.484 p.R162C 1.000 pfam_Fatty_acid_desaturase-1 pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 38 0 0.00 28 3 9.68 SCFD1 0 genome.wustl.edu 37 14 31091582 31091582 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 31091582 31091582 C T SNP SCFD1 ENST00000458591 human ensembl 74_37 +1 known missense c.38 p.A13V 0.068 superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 tier1 - - 91 0 0.00 78 11 12.36 SCFD1 0 genome.wustl.edu 37 14 31107414 31107414 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 31107414 31107414 T C SNP SCFD1 ENST00000458591 human ensembl 74_37 +1 known silent c.396 p.N132 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 tier1 - - 53 0 0.00 36 12 25.00 SCGB2B2 0 genome.wustl.edu 37 19 35084404 35084404 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 35084404 35084404 C T SNP SCGB2B2 ENST00000595326 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SCGB2B2 HGNC ENSG00000205209 tier1 - - 20 0 0.00 8 4 33.33 SCLY 0 genome.wustl.edu 37 2 238991922 238991922 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 238991922 238991922 C T SNP SCLY ENST00000254663 human ensembl 74_37 +1 known nonsense c.835 p.R279* 0.911 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS - no_errors SCLY HGNC ENSG00000132330 tier1 - - 67 0 0.00 49 6 10.91 SCN2A 0 genome.wustl.edu 37 2 166171983 166171983 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 166171983 166171983 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.1386 p.A462 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 rs145912536 - 69 0 0.00 34 8 19.05 SCN3A 0 genome.wustl.edu 37 2 165948847 165948847 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 165948847 165948847 A G SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.4724 p.L1575P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 63 0 0.00 78 8 9.30 SCN3B 0 genome.wustl.edu 37 11 123516402 123516402 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 123516402 123516402 C A SNP SCN3B ENST00000299333 human ensembl 74_37 -1 known missense c.112 p.G38C 1.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SCN3B HGNC ENSG00000166257 tier1 - - 31 0 0.00 22 6 21.43 SCN4A 0 genome.wustl.edu 37 17 62045456 62045456 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 62045456 62045456 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.963 p.N321 0.820 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 59 0 0.00 23 35 60.34 SCN4A 0 genome.wustl.edu 37 17 62018159 62018159 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 62018159 62018159 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.5483 p.R1828H 0.951 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 43 0 0.00 32 5 13.51 SCN5A 0 genome.wustl.edu 37 3 38622707 38622707 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 38622707 38622707 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.2943 p.C981 1.000 pfam_Na_trans_assoc,prints_Na_channel_a5su 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 tier1 - - 37 0 0.00 25 7 21.88 SCN7A 0 genome.wustl.edu 37 2 167279923 167279924 + Frame_Shift_Del DEL AT AT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 167279923 167279924 AT - DEL SCN7A ENST00000409855 human ensembl 74_37 -1 known frame_shift_del c.2873_2872 p.M958fs 1.000:1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 32 0 0.00 36 2 5.26 SCN9A 0 genome.wustl.edu 37 2 167055647 167055647 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 167055647 167055647 G A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known silent c.5505 p.D1835 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 88 0 0.00 64 20 23.81 SCN9A 0 genome.wustl.edu 37 2 167134703 167134703 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 167134703 167134703 C T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2467 p.E823K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 63 0 0.00 50 6 10.71 SCNN1D 0 genome.wustl.edu 37 1 1222275 1222275 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 1222275 1222275 C - DEL SCNN1D ENST00000379116 human ensembl 74_37 +1 known frame_shift_del c.1039 p.F349fs 0.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 tier1 78 0 0.00 62 15 19.48 SCRIB 0 genome.wustl.edu 37 8 144873383 144873383 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 144873383 144873383 G T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.4843 p.R1615S 0.993 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 31 0 0.00 25 8 24.24 SCRN2 0 genome.wustl.edu 37 17 45915667 45915667 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 45915667 45915667 T C SNP SCRN2 ENST00000290216 human ensembl 74_37 -1 known missense c.1088 p.Q363R 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 tier1 - - 64 0 0.00 45 6 11.76 SCUBE3 0 genome.wustl.edu 37 6 35205687 35205687 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 35205687 35205687 G A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.769 p.A257T 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 tier1 - - 86 0 0.00 65 11 14.47 SCUBE3 0 genome.wustl.edu 37 6 35213121 35213121 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 35213121 35213121 C T SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.2566 p.R856C 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 tier1 - - 77 0 0.00 54 29 34.94 SDC1 0 genome.wustl.edu 37 2 20402090 20402090 + RNA DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 20402090 20402090 C - DEL SDC1 ENST00000482879 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SDC1 HGNC ENSG00000115884 tier1 47 0 0.00 33 5 13.16 SDC3 0 genome.wustl.edu 37 1 31351475 31351475 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 31351475 31351475 G A SNP SDC3 ENST00000339394 human ensembl 74_37 -1 known missense c.251 p.S84L 1.000 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC3 HGNC ENSG00000162512 tier1 - - 42 0 0.00 27 11 28.95 SDK2 0 genome.wustl.edu 37 17 71344794 71344794 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 71344794 71344794 T C SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.6109 p.I2037V 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_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 45 0 0.00 34 8 19.05 SEC24A 0 genome.wustl.edu 37 5 134050782 134050782 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 134050782 134050782 C T SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known silent c.2796 p.N932 0.994 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 tier1 - - 46 0 0.00 58 8 12.12 SEC31B 0 genome.wustl.edu 37 10 102256019 102256019 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 102256019 102256019 G A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.2306 p.A769V 0.462 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 tier1 - - 41 0 0.00 47 7 12.96 SEC61A1 0 genome.wustl.edu 37 3 127774388 127774388 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 127774388 127774388 C T SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known silent c.105 p.T35 0.169 superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 tier1 - - 78 0 0.00 76 8 9.52 SEL1L3 0 genome.wustl.edu 37 4 25831751 25831751 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 25831751 25831751 C A SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.1126 p.D376Y 0.997 superfamily_ConA-like_lec_gl_sf pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 - - 100 0 0.00 71 4 5.33 SEMA4B 0 genome.wustl.edu 37 15 90771824 90771824 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 90771824 90771824 C - DEL SEMA4B ENST00000332496 human ensembl 74_37 +1 known frame_shift_del c.2463 p.R823fs 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 tier1 57 0 0.00 51 21 29.17 SEMA4D 0 genome.wustl.edu 37 9 91994102 91994102 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 91994102 91994102 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known silent c.2106 p.A702 0.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 tier1 - - 49 0 0.00 45 11 19.30 SEMA6A 0 genome.wustl.edu 37 5 115831945 115831945 + Splice_Site SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 115831945 115831945 A G SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known splice_site c.342+2 e4+2 1.000 - - - no_errors SEMA6A HGNC ENSG00000092421 tier1 - - 78 0 0.00 59 9 13.04 SEMA6C 0 genome.wustl.edu 37 1 151106894 151106894 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 151106894 151106894 G - DEL SEMA6C ENST00000368913 human ensembl 74_37 -1 known frame_shift_del c.1742 p.P581fs 0.334 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 tier1 40 0 0.00 31 8 20.51 SEPN1 0 genome.wustl.edu 37 1 26136236 26136236 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 26136236 26136236 A G SNP SEPN1 ENST00000354177 human ensembl 74_37 +1 known missense c.833 p.Q278R 1.000 NULL pfscan_EF_hand_dom - no_errors SEPN1 HGNC ENSG00000162430 tier1 - - 47 0 0.00 46 8 14.81 SERF2 0 genome.wustl.edu 37 15 44086154 44086154 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 44086154 44086154 G A SNP SERF2 ENST00000409960 human ensembl 74_37 +1 putative missense c.497 p.G166D 1.000 NULL pfam_Uncharacterised_SERF - no_errors SERF2 HGNC ENSG00000140264 59 0 0.00 39 4 9.30 SERPINA12 0 genome.wustl.edu 37 14 94956095 94956095 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 94956095 94956095 G A SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known silent c.915 p.D305 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 tier1 - - 47 0 0.00 35 16 31.37 SERPINB9 0 genome.wustl.edu 37 6 2892189 2892189 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 2892189 2892189 C T SNP SERPINB9 ENST00000380698 human ensembl 74_37 -1 known missense c.601 p.E201K 0.931 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 38 0 0.00 25 3 10.71 SERPINF1 0 genome.wustl.edu 37 17 1674430 1674431 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 1674430 1674431 - C INS SERPINF1 ENST00000254722 human ensembl 74_37 +1 known frame_shift_ins c.391_392 p.Q133fs 0.614:0.627 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF1 HGNC ENSG00000132386 tier1 52 0 0.00 40 14 25.93 SERTAD3 0 genome.wustl.edu 37 19 40946794 40946796 + RNA DEL AAA AAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 40946794 40946796 AAA - DEL SERTAD3 ENST00000601217 human ensembl 74_37 -1 known rna NULL NULL 0.794:0.788:0.768 - - - no_errors SERTAD3 HGNC ENSG00000167565 tier1 186 0 0.00 153 16 9.47 SETBP1 0 genome.wustl.edu 37 18 42532404 42532404 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 42532404 42532404 T - DEL SETBP1 ENST00000282030 human ensembl 74_37 +1 known frame_shift_del c.3099 p.L1035fs 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 69 0 0.00 43 13 23.21 SETD1A 0 genome.wustl.edu 37 16 30975958 30975958 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 30975958 30975958 C T SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.895 p.R299W 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 tier1 - - 53 0 0.00 34 18 34.62 SETD1B 0 genome.wustl.edu 37 12 122242658 122242658 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 122242658 122242658 C - DEL SETD1B ENST00000267197 human ensembl 74_37 +1 known frame_shift_del c.15 p.H8fs 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 49 0 0.00 19 18 48.65 SETD1B 0 genome.wustl.edu 37 12 122252481 122252481 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 122252481 122252481 C T SNP SETD1B ENST00000267197 human ensembl 74_37 +1 known missense c.2360 p.T787M 0.997 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 9 0 0.00 8 4 33.33 SETD6 0 genome.wustl.edu 37 16 58550438 58550440 + In_Frame_Del DEL AGA AGA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 58550438 58550440 AGA - DEL SETD6 ENST00000219315 human ensembl 74_37 +1 known in_frame_del c.533_535 p.K179in_frame_del 1.000:0.998:1.000 pfam_SET_dom,pirsf_RuBisCo-cyt_methylase pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase - no_errors SETD6 HGNC ENSG00000103037 tier1 61 0 0.00 32 9 21.95 SETDB1 0 genome.wustl.edu 37 1 150936218 150936218 + Splice_Site SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 150936218 150936218 G A SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known splice_site c.3669+1 e19+1 1.000 - - - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 44 0 0.00 36 9 20.00 SEZ6L2 0 genome.wustl.edu 37 16 29906705 29906706 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 29906705 29906706 - G INS SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known frame_shift_ins c.728_727 p.R243fs 1.000:1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 tier1 166 0 0.00 122 26 17.57 SF3B2 0 genome.wustl.edu 37 11 65827281 65827281 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 65827281 65827281 T C SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known missense c.1430 p.M477T 1.000 pfam_DUF382 pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 tier1 - - 34 0 0.00 36 7 16.28 SFI1 0 genome.wustl.edu 37 22 32014440 32014440 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 32014440 32014440 G - DEL SFI1 ENST00000474741 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SFI1 HGNC ENSG00000198089 tier1 52 0 0.00 27 6 18.18 SFTPA2 0 genome.wustl.edu 37 10 81317336 81317336 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 81317336 81317336 T C SNP SFTPA2 ENST00000372325 human ensembl 74_37 -1 known missense c.376 p.S126G 0.013 smart_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA2 HGNC ENSG00000185303 tier1 - - 43 0 0.00 29 7 19.44 SGSM2 0 genome.wustl.edu 37 17 2268625 2268625 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 2268625 2268625 G A SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known silent c.1278 p.R426 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 SGSM2 HGNC ENSG00000141258 tier1 - - 66 0 0.00 51 5 8.93 SH3BGR 0 genome.wustl.edu 37 21 40871812 40871812 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 40871812 40871812 G T SNP SH3BGR ENST00000333634 human ensembl 74_37 +1 known missense c.565 p.G189C 0.051 NULL pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGR HGNC ENSG00000185437 tier1 - - 90 0 0.00 65 11 14.29 SH3BP4 0 genome.wustl.edu 37 2 235950921 235950921 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 235950921 235950921 C T SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.1508 p.T503M 0.998 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 tier1 - - 24 0 0.00 12 6 33.33 SH3BP5L 0 genome.wustl.edu 37 1 249106200 249106200 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 249106200 249106200 C T SNP SH3BP5L ENST00000366472 human ensembl 74_37 -1 known missense c.1081 p.V361I 0.166 NULL pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 20 0 0.00 13 3 18.75 SH3GL1 0 genome.wustl.edu 37 19 4361753 4361753 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 4361753 4361753 G A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known silent c.951 p.F317 0.995 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 67 0 0.00 41 4 8.89 SH3KBP1 0 genome.wustl.edu 37 X 19560215 19560215 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 19560215 19560215 G - DEL SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known frame_shift_del c.1720 p.L574fs 0.002 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 tier1 84 0 0.00 55 7 11.29 SH3PXD2A 0 genome.wustl.edu 37 10 105362131 105362131 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 105362131 105362131 G 0 DEL SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known frame_shift_del c.2844 p.I949fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 9 0 0.00 10 5 33.33 SH3TC2 0 genome.wustl.edu 37 5 148427444 148427444 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 148427444 148427444 T C SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.260 p.E87G 0.996 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 tier1 - - 43 0 0.00 20 5 20.00 SHC1 0 genome.wustl.edu 37 1 154935863 154935863 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 154935863 154935863 G - DEL SHC1 ENST00000490667 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SHC1 HGNC ENSG00000160691 tier1 107 0 0.00 70 38 35.19 SHCBP1L 0 genome.wustl.edu 37 1 182909500 182909500 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 182909500 182909500 T A SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known missense c.734 p.D245V 0.003 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 tier1 - - 60 0 0.00 41 6 12.77 SHPK 0 genome.wustl.edu 37 17 3513905 3513905 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 3513905 3513905 G A SNP SHPK ENST00000225519 human ensembl 74_37 -1 known silent c.1386 p.V462 0.027 NULL pfam_Carb_kinase_FGGY_N - no_errors SHPK HGNC ENSG00000197417 tier1 - - 16 0 0.00 6 7 53.85 SIDT1 0 genome.wustl.edu 37 3 113322843 113322843 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 113322843 113322843 C T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known missense c.1300 p.R434W 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 69 0 0.00 46 13 22.03 SIK1 0 genome.wustl.edu 37 21 44837638 44837638 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 44837638 44837638 C T SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known silent c.1761 p.R587 0.975 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_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_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 tier1 - - 59 0 0.00 68 6 8.11 SIPA1L2 0 genome.wustl.edu 37 1 232607232 232607232 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 232607232 232607232 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.2128 p.V710I 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 67 0 0.00 42 21 33.33 SIPA1L3 0 genome.wustl.edu 37 19 38573645 38573645 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 38573645 38573645 G T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.1440 p.K480N 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 - - 71 0 0.00 38 8 17.39 SLC15A1 0 genome.wustl.edu 37 13 99362008 99362008 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 99362008 99362008 G T SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known silent c.966 p.P322 0.046 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 tier1 - - 58 0 0.00 47 4 7.84 SLC16A14 0 genome.wustl.edu 37 2 230902154 230902154 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 230902154 230902154 G A SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.1475 p.P492L 0.863 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 tier1 - - 51 0 0.00 30 6 16.67 SLC18A3 0 genome.wustl.edu 37 10 50819743 50819743 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 50819743 50819743 G A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known silent c.957 p.T319 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 tier1 - - 19 0 0.00 22 6 21.43 SLC19A1 0 genome.wustl.edu 37 21 46952005 46952005 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 46952005 46952005 C - DEL SLC19A1 ENST00000311124 human ensembl 74_37 -1 known frame_shift_del c.247 p.V83fs 0.014 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 tier1 35 0 0.00 29 7 19.44 SLC1A6 0 genome.wustl.edu 37 19 15067364 15067364 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 15067364 15067364 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.1093 p.V365I 0.984 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 tier1 - - 70 0 0.00 40 20 33.33 SLC25A14 0 genome.wustl.edu 37 X 129492768 129492768 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 129492768 129492768 T - DEL SLC25A14 ENST00000464184 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A14 HGNC ENSG00000102078 tier1 33 0 0.00 19 4 17.39 SLC25A16 0 genome.wustl.edu 37 10 70246947 70246947 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 70246947 70246947 G A SNP SLC25A16 ENST00000609923 human ensembl 74_37 -1 known missense c.796 p.R266W 0.999 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier - no_errors SLC25A16 HGNC ENSG00000122912 tier1 - - 55 0 0.00 34 14 28.00 SLC25A25 0 genome.wustl.edu 37 9 130854349 130854349 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 130854349 130854349 C A SNP SLC25A25 ENST00000373066 human ensembl 74_37 +1 known missense c.200 p.P67H 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 tier1 - - 68 0 0.00 39 14 26.42 SLC26A1 0 genome.wustl.edu 37 4 985263 985263 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 985263 985263 G A SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known silent c.229 p.L77 0.240 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 tier1 - - 49 0 0.00 30 5 14.29 SLC26A7 0 genome.wustl.edu 37 8 92352747 92352747 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 92352747 92352747 A - DEL SLC26A7 ENST00000309536 human ensembl 74_37 +1 known frame_shift_del c.994 p.K333fs 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 tier1 59 0 0.00 64 10 13.51 SLC28A3 0 genome.wustl.edu 37 9 86955495 86955495 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 86955495 86955495 G T SNP SLC28A3 ENST00000376238 human ensembl 74_37 -1 known silent c.54 p.G18 0.013 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC ENSG00000197506 tier1 - - 63 0 0.00 52 4 7.14 SLC2A12 0 genome.wustl.edu 37 6 134327992 134327992 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 134327992 134327992 C T SNP SLC2A12 ENST00000275230 human ensembl 74_37 -1 known missense c.1525 p.G509S 1.000 pfam_Sub_transporter,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 SLC2A12 HGNC ENSG00000146411 tier1 - - 49 0 0.00 47 10 17.54 SLC2A13 0 genome.wustl.edu 37 12 40345040 40345040 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 40345040 40345040 G A SNP SLC2A13 ENST00000380858 human ensembl 74_37 -1 putative silent c.1053 p.G351 0.040 pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 tier1 - - 91 0 0.00 65 13 16.67 SLC2A9 0 genome.wustl.edu 37 4 9922179 9922179 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 9922179 9922179 C T SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known missense c.832 p.G278S 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 tier1 - - 29 0 0.00 14 7 33.33 SLC30A10 0 genome.wustl.edu 37 1 220088998 220088998 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 220088998 220088998 G - DEL SLC30A10 ENST00000366926 human ensembl 74_37 -1 known frame_shift_del c.1251 p.A419fs 0.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 tier1 41 0 0.00 35 7 16.67 SLC30A5 0 genome.wustl.edu 37 5 68398896 68398896 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 68398896 68398896 T - DEL SLC30A5 ENST00000396591 human ensembl 74_37 +1 known frame_shift_del c.214 p.F73fs 0.996 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 tier1 125 0 0.00 109 32 22.70 SLC30A5 0 genome.wustl.edu 37 5 68411969 68411969 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 68411969 68411969 G T SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known missense c.1000 p.A334S 0.974 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 tier1 - - 49 0 0.00 35 4 10.26 SLC38A9 0 genome.wustl.edu 37 5 55008154 55008154 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 55008154 55008154 G A SNP SLC38A9 ENST00000502416 human ensembl 74_37 -1 known rna NULL NULL 0.321 - - - no_errors SLC38A9 HGNC ENSG00000177058 tier1 - - 85 0 0.00 61 11 15.28 SLC39A3 0 genome.wustl.edu 37 19 2737237 2737237 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 2737237 2737237 C T SNP SLC39A3 ENST00000269740 human ensembl 74_37 -1 known missense c.19 p.A7T 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 tier1 - - 59 0 0.00 63 11 14.86 SLC39A7 0 genome.wustl.edu 37 6 33171577 33171577 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 33171577 33171577 C T SNP SLC39A7 ENST00000374675 human ensembl 74_37 +1 known missense c.1397 p.A466V 1.000 pfam_ZIP pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 43 0 0.00 26 3 10.34 SLC43A1 0 genome.wustl.edu 37 11 57254668 57254668 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 57254668 57254668 G A SNP SLC43A1 ENST00000278426 human ensembl 74_37 -1 known missense c.1433 p.T478M 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 tier1 - - 98 0 0.00 68 10 12.82 SLC43A1 0 genome.wustl.edu 37 11 57265290 57265290 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 57265290 57265290 G T SNP SLC43A1 ENST00000278426 human ensembl 74_37 -1 known missense c.494 p.S165Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 37 0 0.00 30 3 9.09 SLC4A7 0 genome.wustl.edu 37 3 27450945 27450945 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 27450945 27450945 G T SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.1843 p.L615M 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 46 0 0.00 44 5 10.20 SLC4A8 0 genome.wustl.edu 37 12 51868866 51868866 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 51868866 51868866 C T SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known missense c.2048 p.A683V 0.999 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 tier1 - - 53 0 0.00 50 5 9.09 SLC5A11 0 genome.wustl.edu 37 16 24919407 24919407 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 24919407 24919407 G A SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known silent c.1389 p.A463 0.043 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 tier1 - - 60 0 0.00 39 9 18.75 SLC5A7 0 genome.wustl.edu 37 2 108626718 108626718 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 108626718 108626718 C T SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known nonsense c.1144 p.R382* 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 tier1 - - 86 0 0.00 45 21 31.82 SLC6A14 0 genome.wustl.edu 37 X 115569030 115569030 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 115569030 115569030 A - DEL SLC6A14 ENST00000371900 human ensembl 74_37 +1 known frame_shift_del c.121 p.K42fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 tier1 117 0 0.00 56 18 24.32 SLC6A9 0 genome.wustl.edu 37 1 44468596 44468596 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 44468596 44468596 G T SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.871 p.L291I 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 tier1 - - 72 0 0.00 34 12 26.09 SLC8A1 0 genome.wustl.edu 37 2 40657337 40657337 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 40657337 40657337 G T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.84 p.S28 0.997 prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 32 0 0.00 40 4 9.09 SLC9A1 0 genome.wustl.edu 37 1 27429000 27429000 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 27429000 27429000 C T SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.1696 p.E566K 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 tier1 - - 45 0 0.00 35 12 25.53 SLC9A3R1 0 genome.wustl.edu 37 17 72758236 72758236 + Missense_Mutation SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 72758236 72758236 G C SNP SLC9A3R1 ENST00000262613 human ensembl 74_37 +1 known missense c.527 p.G176A 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R1 HGNC ENSG00000109062 tier1 - - 55 0 0.00 28 7 20.00 SLC9A7P1 0 genome.wustl.edu 37 12 98849361 98849361 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 98849361 98849361 G T SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 64 0 0.00 53 4 6.78 SLC9A9 0 genome.wustl.edu 37 3 143513850 143513850 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 143513850 143513850 C T SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known missense c.526 p.V176I 0.989 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 tier1 - - 61 0 0.00 42 13 23.64 SLC9C1 0 genome.wustl.edu 37 3 111936361 111936362 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 111936361 111936362 - T INS SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_ins c.1718_1717 p.T573fs 0.000:0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 tier1 77 0 0.00 75 10 11.76 SLCO2A1 0 genome.wustl.edu 37 3 133666102 133666103 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 133666102 133666103 - G INS SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known frame_shift_ins c.1293_1292 p.S432fs 0.371:0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 tier1 33 0 0.00 37 5 11.90 SLCO5A1 0 genome.wustl.edu 37 8 70674105 70674105 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 70674105 70674105 T C SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.913 p.M305V 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 tier1 - - 44 0 0.00 33 19 36.54 SLIT2 0 genome.wustl.edu 37 4 20255565 20255565 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 20255565 20255565 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.127 p.G43R 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 63 0 0.00 47 12 20.34 SLIT3 0 genome.wustl.edu 37 5 168123370 168123372 + In_Frame_Del DEL GTT GTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 168123370 168123372 GTT - DEL SLIT3 ENST00000519560 human ensembl 74_37 -1 known in_frame_del c.3009_3007 p.N1003in_frame_del 0.954:1.000:1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 51 0 0.00 45 15 25.00 SLITRK2 0 genome.wustl.edu 37 X 144904398 144904398 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 144904398 144904398 G T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.455 p.G152V 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 tier1 - - 36 0 0.00 11 5 31.25 SLITRK3 0 genome.wustl.edu 37 3 164908289 164908289 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 164908289 164908289 G T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.330 p.N110K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 45 0 0.00 28 2 6.67 SLITRK5 0 genome.wustl.edu 37 13 88327706 88327706 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 88327706 88327706 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known nonsense c.63 p.W21* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 64 0 0.00 29 9 23.68 SLITRK5 0 genome.wustl.edu 37 13 88330073 88330073 + Silent SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 88330073 88330073 G C SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.2430 p.P810 0.861 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 24 0 0.00 4 3 42.86 SLTM 0 genome.wustl.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 59182525 59182526 TC - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.2034_2033 p.R678fs 0.999:1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 tier1 28 0 0.00 17 5 22.73 SMAD5 0 genome.wustl.edu 37 5 135515157 135515157 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 135515157 135515157 A - DEL SMAD5 ENST00000514641 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SMAD5 HGNC ENSG00000113658 tier1 51 0 0.00 43 4 8.51 SMARCD2 0 genome.wustl.edu 37 17 61911039 61911039 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 61911039 61911039 C T SNP SMARCD2 ENST00000448276 human ensembl 74_37 -1 known missense c.1225 p.D409N 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 tier1 - - 47 0 0.00 40 7 14.89 SMARCD3 0 genome.wustl.edu 37 7 150936201 150936201 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 150936201 150936201 C T SNP SMARCD3 ENST00000262188 human ensembl 74_37 -1 known silent c.1440 p.V480 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 tier1 - - 52 0 0.00 27 6 18.18 SMC4 0 genome.wustl.edu 37 3 160134136 160134136 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 160134136 160134136 A - DEL SMC4 ENST00000344722 human ensembl 74_37 +1 known frame_shift_del c.1370 p.K459fs 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 tier1 37 0 0.00 20 4 16.67 SMC6 0 genome.wustl.edu 37 2 17898356 17898356 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 17898356 17898356 T - DEL SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_del c.1258 p.S420fs 0.998 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 tier1 52 0 0.00 46 7 13.21 SMCO2 0 genome.wustl.edu 37 12 27628630 27628630 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 27628630 27628630 A - DEL SMCO2 ENST00000416383 human ensembl 74_37 +1 known frame_shift_del c.478 p.I162fs 0.000 NULL NULL - no_errors SMCO2 HGNC ENSG00000165935 tier1 60 0 0.00 61 7 10.29 SMG6 0 genome.wustl.edu 37 17 1964760 1964760 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 1964760 1964760 G - DEL SMG6 ENST00000570756 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors SMG6 HGNC ENSG00000070366 tier1 35 0 0.00 41 6 12.77 SMG6 0 genome.wustl.edu 37 17 1964769 1964770 + RNA DEL GC GC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 1964769 1964770 GC - DEL SMG6 ENST00000570756 human ensembl 74_37 -1 known rna NULL NULL 0.044:0.088 - - - no_errors SMG6 HGNC ENSG00000070366 tier1 35 0 0.00 26 11 29.73 SMG6 0 genome.wustl.edu 37 17 2202942 2202942 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 2202942 2202942 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.1105 p.A369T 0.001 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 67 0 0.00 46 4 8.00 SMUG1 0 genome.wustl.edu 37 12 54576259 54576259 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 54576259 54576259 A - DEL SMUG1 ENST00000337581 human ensembl 74_37 -1 known frame_shift_del c.434 p.F145fs 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC ENSG00000123415 tier1 33 0 0.00 32 4 11.11 SNAP25 0 genome.wustl.edu 37 20 10287898 10287898 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 10287898 10287898 A G SNP SNAP25 ENST00000495883 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNAP25 HGNC ENSG00000132639 tier1 - - 36 0 0.00 35 11 23.91 SNAPC1 0 genome.wustl.edu 37 14 62242910 62242911 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 62242910 62242911 - T INS SNAPC1 ENST00000216294 human ensembl 74_37 +1 known frame_shift_ins c.632_633 p.D214fs 1.000:0.961 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 tier1 54 0 0.00 59 6 9.23 SNHG14 0 genome.wustl.edu 37 15 25456847 25456847 + RNA SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 25456847 25456847 G T SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 46 0 0.00 25 5 16.67 SNHG6 0 genome.wustl.edu 37 8 67834877 67834877 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 67834877 67834877 T - DEL SNHG6 ENST00000520348 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SNHG6 HGNC ENSG00000245910 tier1 8 0 0.00 10 3 23.08 SNORA72 0 genome.wustl.edu 37 8 99054837 99054837 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 99054837 99054837 A - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 tier1 52 0 0.00 71 11 13.41 SNORD57 0 genome.wustl.edu 37 20 2637628 2637629 + RNA INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 2637628 2637629 - A INS SNORD57 ENST00000448188 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.987 - - - no_errors SNORD57 HGNC ENSG00000226572 tier1 50 0 0.00 38 7 15.56 SNPH 0 genome.wustl.edu 37 20 1277890 1277890 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 1277890 1277890 C A SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.284 p.T95K 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 37 0 0.00 31 3 8.82 SNRNP27 0 genome.wustl.edu 37 2 70122235 70122235 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 70122235 70122235 G A SNP SNRNP27 ENST00000244227 human ensembl 74_37 +1 known missense c.44 p.R15H 1.000 pfam_DUF1777 pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 tier1 - - 53 0 0.00 31 8 20.51 SNRNP40 0 genome.wustl.edu 37 1 31732678 31732679 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 31732678 31732679 AA - DEL SNRNP40 ENST00000486941 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.034 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 40 0 0.00 29 10 25.64 SNRPN 0 genome.wustl.edu 37 15 25221489 25221489 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 25221489 25221489 C T SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.205 p.R69W 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 tier1 - - 59 0 0.00 47 6 11.32 SNTG2 0 genome.wustl.edu 37 2 1312285 1312285 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 1312285 1312285 G A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1304 p.S435N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 53 0 0.00 42 6 12.50 SNUPN 0 genome.wustl.edu 37 15 75902272 75902272 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 75902272 75902272 C T SNP SNUPN ENST00000371091 human ensembl 74_37 -1 known missense c.493 p.V165M 1.000 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 tier1 - - 50 0 0.00 24 16 40.00 SNX20 0 genome.wustl.edu 37 16 50707923 50707923 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 50707923 50707923 C T SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known silent c.345 p.R115 0.937 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 tier1 - - 24 0 0.00 15 7 31.82 SNX21 0 genome.wustl.edu 37 20 44470649 44470651 + RNA DEL TTT TTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 44470649 44470651 TTT - DEL SNX21 ENST00000344780 human ensembl 74_37 +1 known rna NULL NULL 0.017:0.013:0.007 - - - no_errors SNX21 HGNC ENSG00000124104 tier1 65 0 0.00 50 12 19.35 SOD1 0 genome.wustl.edu 37 21 33040846 33040846 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 33040846 33040846 C T SNP SOD1 ENST00000270142 human ensembl 74_37 +1 known silent c.420 p.N140 0.997 pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom - no_errors SOD1 HGNC ENSG00000142168 tier1 rs1804449 - 35 0 0.00 20 7 25.93 SOD2 0 genome.wustl.edu 37 6 160113437 160113437 + Splice_Site SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 160113437 160113437 C T SNP SOD2 ENST00000540491 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors SOD2 HGNC ENSG00000112096 tier1 - - 38 0 0.00 22 9 29.03 SOGA1 0 genome.wustl.edu 37 20 35414897 35414897 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 35414897 35414897 G - DEL SOGA1 ENST00000237536 human ensembl 74_37 -1 known frame_shift_del c.4977 p.S1660fs 0.644 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 tier1 63 0 0.00 37 8 17.78 SOGA2 0 genome.wustl.edu 37 18 8818982 8818982 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 8818982 8818982 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.2881 p.R961W 0.453 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 rs149462341 - 37 0 0.00 17 4 19.05 SOGA2 0 genome.wustl.edu 37 18 8825003 8825003 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 8825003 8825003 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.3495 p.T1165 0.616 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 rs114022207 - 50 0 0.00 43 14 24.56 SORBS1 0 genome.wustl.edu 37 10 97174480 97174480 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 97174480 97174480 G A SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.581 p.A194V 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 57 0 0.00 62 5 7.46 SORBS2 0 genome.wustl.edu 37 4 186544439 186544439 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 186544439 186544439 T - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.2132 p.N711fs 0.203 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 54 0 0.00 42 5 10.64 SORBS2 0 genome.wustl.edu 37 4 186545131 186545131 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 186545131 186545131 G A SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known silent c.1440 p.Y480 0.364 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 38 0 0.00 28 5 15.15 SORCS1 0 genome.wustl.edu 37 10 108923780 108923780 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 108923780 108923780 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.505 p.G169R 0.994 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 44 0 0.00 26 13 33.33 SORCS2 0 genome.wustl.edu 37 4 7725564 7725564 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 7725564 7725564 G T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known missense c.2565 p.E855D 1.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 tier1 - - 37 0 0.00 25 12 32.43 SORL1 0 genome.wustl.edu 37 11 121489505 121489505 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 121489505 121489505 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.5627 p.T1876M 1.000 superfamily_Fibronectin_type3,smart_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,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 rs149445303 - 66 0 0.00 61 18 22.78 SOWAHD 0 genome.wustl.edu 37 X 118893451 118893451 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 118893451 118893451 C T SNP SOWAHD ENST00000343905 human ensembl 74_37 +1 known missense c.821 p.A274V 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHD HGNC ENSG00000187808 tier1 - - 33 0 0.00 9 5 35.71 SOX14 0 genome.wustl.edu 37 3 137483819 137483819 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 137483819 137483819 C T SNP SOX14 ENST00000306087 human ensembl 74_37 +1 known missense c.193 p.R65C 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX14 HGNC ENSG00000168875 tier1 - - 75 0 0.00 64 9 12.33 SOX17 0 genome.wustl.edu 37 8 55370816 55370816 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 55370816 55370816 G A SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.118 p.G40R 1.000 NULL pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 tier1 - - 14 0 0.00 10 7 41.18 SOX2 0 genome.wustl.edu 37 3 181431011 181431011 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 181431011 181431011 C - DEL SOX2 ENST00000325404 human ensembl 74_37 +1 known frame_shift_del c.863 p.S290fs 1.000 NULL pfam_TF_SOX,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX2 HGNC ENSG00000181449 tier1 37 0 0.00 15 3 16.67 SP100 0 genome.wustl.edu 37 2 231334496 231334496 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 231334496 231334496 A - DEL SP100 ENST00000341950 human ensembl 74_37 +1 known frame_shift_del c.1350 p.K453fs 0.007 NULL pfam_Sp100 - no_errors SP100 HGNC ENSG00000067066 tier1 23 0 0.00 19 8 29.63 SP140 0 genome.wustl.edu 37 2 231159025 231159025 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 231159025 231159025 A - DEL SP140 ENST00000392045 human ensembl 74_37 +1 known frame_shift_del c.2008 p.K672fs 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 tier1 76 0 0.00 56 19 25.33 SP8 0 genome.wustl.edu 37 7 20824432 20824432 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 20824432 20824432 C - DEL SP8 ENST00000418710 human ensembl 74_37 -1 known frame_shift_del c.1004 p.G335fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 tier1 15 0 0.00 15 4 21.05 SPAG16 0 genome.wustl.edu 37 2 214160791 214160791 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 214160791 214160791 T A SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.140 p.V47D 0.828 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 tier1 - - 92 0 0.00 71 13 15.48 SPAG17 0 genome.wustl.edu 37 1 118509241 118509241 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 118509241 118509241 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.6523 p.V2175M 0.999 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 53 0 0.00 64 4 5.88 SPATA31C1 0 genome.wustl.edu 37 9 90535546 90535546 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 90535546 90535546 C T SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31C1 HGNC ENSG00000230246 tier1 - - 207 0 0.00 137 40 22.60 SPATA31D3 0 genome.wustl.edu 37 9 84564459 84564459 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 84564459 84564459 T C SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SPATA31D3 HGNC ENSG00000186788 36 0 0.00 45 3 6.25 SPATA31D5P 0 genome.wustl.edu 37 9 84531279 84531279 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 84531279 84531279 A - DEL SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 48 0 0.00 53 9 14.52 SPATA6 0 genome.wustl.edu 37 1 48821240 48821240 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 48821240 48821240 T - DEL SPATA6 ENST00000487629 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors SPATA6 HGNC ENSG00000132122 tier1 14 0 0.00 21 3 12.50 SPEF2 0 genome.wustl.edu 37 5 35705894 35705895 + Frame_Shift_Del DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 35705894 35705895 AA - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649_2650 p.K886fs 0.129:0.963 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 47 0 0.00 43 14 24.56 SPEF2 0 genome.wustl.edu 37 5 35779244 35779244 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 35779244 35779244 C T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.4243 p.R1415C 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 57 0 0.00 31 21 40.38 SPEG 0 genome.wustl.edu 37 2 220349121 220349121 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 220349121 220349121 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.6936 p.V2312 0.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 65 0 0.00 41 7 14.58 SPEN 0 genome.wustl.edu 37 1 16260997 16260997 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 16260997 16260997 G T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.8262 p.T2754 0.185 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 53 0 0.00 22 12 35.29 SPG11 0 genome.wustl.edu 37 15 44907749 44907750 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 44907749 44907750 - A INS SPG11 ENST00000261866 human ensembl 74_37 -1 known frame_shift_ins c.2850_2849 p.L950fs 0.098:0.982 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 20 0 0.00 25 3 10.71 SPHK2 0 genome.wustl.edu 37 19 49129476 49129476 + Missense_Mutation SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 49129476 49129476 G C SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known missense c.554 p.G185A 0.986 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 tier1 - - 17 0 0.00 5 6 54.55 SPIN2B 0 genome.wustl.edu 37 X 57146545 57146545 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 57146545 57146545 T C SNP SPIN2B ENST00000275988 human ensembl 74_37 -1 known missense c.518 p.Y173C 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN2B HGNC ENSG00000186787 tier1 - - 43 0 0.00 26 4 13.33 SPINK13 0 genome.wustl.edu 37 5 147649640 147649640 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 147649640 147649640 C A SNP SPINK13 ENST00000398450 human ensembl 74_37 +1 known missense c.5 p.A2D 0.945 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK13 HGNC ENSG00000214510 tier1 - - 88 0 0.00 54 10 15.62 SPNS1 0 genome.wustl.edu 37 16 28995600 28995600 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 28995600 28995600 G A SNP SPNS1 ENST00000311008 human ensembl 74_37 +1 known missense c.1567 p.V523M 0.979 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 19 0 0.00 17 3 15.00 SPPL2B 0 genome.wustl.edu 37 19 2353292 2353292 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 2353292 2353292 G A SNP SPPL2B ENST00000452401 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPPL2B HGNC ENSG00000005206 16 0 0.00 6 3 33.33 SPRED1 0 genome.wustl.edu 37 15 38545225 38545225 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 38545225 38545225 G - DEL SPRED1 ENST00000561205 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SPRED1 HGNC ENSG00000166068 tier1 25 0 0.00 17 4 19.05 SPRYD7 0 genome.wustl.edu 37 13 50502184 50502184 + Missense_Mutation SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 50502184 50502184 G C SNP SPRYD7 ENST00000361840 human ensembl 74_37 -1 known missense c.261 p.N87K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD7 HGNC ENSG00000123178 tier1 - - 96 0 0.00 57 10 14.93 SPTA1 0 genome.wustl.edu 37 1 158632566 158632566 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 158632566 158632566 A T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2390 p.L797Q 1.000 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_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 69 0 0.00 41 6 12.50 SPTBN2 0 genome.wustl.edu 37 11 66472851 66472851 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 66472851 66472851 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.1896 p.A632 0.000 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,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 18 0 0.00 26 5 16.13 SPTBN5 0 genome.wustl.edu 37 15 42147436 42147436 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 42147436 42147436 G T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.9409 p.L3137M 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 52 0 0.00 47 18 27.69 SRCAP 0 genome.wustl.edu 37 16 30736371 30736371 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 30736371 30736371 C - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.5626 p.P1878fs 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,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 tier1 73 0 0.00 52 6 10.34 SREK1 0 genome.wustl.edu 37 5 65475195 65475195 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 65475195 65475195 C T SNP SREK1 ENST00000284041 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SREK1 HGNC ENSG00000153914 tier1 - - 72 0 0.00 53 20 27.40 SRGAP2-AS1 0 genome.wustl.edu 37 1 121103696 121103696 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 121103696 121103696 T 0 DEL SRGAP2-AS1 ENST00000437515 human ensembl 74_37 -1 known rna NULL NULL 0.989 - - - no_errors RP11-343N15.1 Clone_based_vega_gene ENSG00000230806 16 0 0.00 15 11 42.31 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 126137087 126137087 T 0 DEL SRPR ENST00000332118 human ensembl 74_37 -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_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 111 0 0.00 88 7 7.37 SRRM3 0 genome.wustl.edu 37 7 75894705 75894705 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 75894705 75894705 G A SNP SRRM3 ENST00000388802 human ensembl 74_37 +1 known missense c.749 p.R250Q 0.461 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM3 HGNC ENSG00000177679 tier1 - - 76 0 0.00 49 10 16.95 SSH2 0 genome.wustl.edu 37 17 27958431 27958431 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 27958431 27958431 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.3700 p.R1234C 0.845 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 tier1 - - 53 0 0.00 44 16 26.67 SSMEM1 0 genome.wustl.edu 37 7 129847928 129847928 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 129847928 129847928 G T SNP SSMEM1 ENST00000297819 human ensembl 74_37 +1 known missense c.178 p.V60F 0.839 NULL NULL - no_errors SSMEM1 HGNC ENSG00000165120 56 0 0.00 33 2 5.71 SSPO 0 genome.wustl.edu 37 7 149484529 149484529 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 149484529 149484529 G A SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 40 0 0.00 42 5 10.64 SSPO 0 genome.wustl.edu 37 7 149501110 149501110 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 149501110 149501110 G - DEL SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 100 0 0.00 54 5 8.47 SSTR3 0 genome.wustl.edu 37 22 37602691 37602691 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 37602691 37602691 C T SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known silent c.1152 p.G384 0.013 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 tier1 - - 93 0 0.00 57 4 6.56 ST18 0 genome.wustl.edu 37 8 53071577 53071577 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 53071577 53071577 A G SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1687 p.Y563H 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 36 0 0.00 54 5 8.47 ST3GAL2 0 genome.wustl.edu 37 16 70415756 70415756 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 70415756 70415756 A G SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known missense c.889 p.Y297H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 tier1 - - 57 0 0.00 40 10 20.00 ST6GAL2 0 genome.wustl.edu 37 2 107423316 107423316 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 107423316 107423316 C T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.1408 p.E470K 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 rs141942088 - 14 0 0.00 12 6 33.33 ST6GALNAC4 0 genome.wustl.edu 37 9 130672349 130672349 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 130672349 130672349 G - DEL ST6GALNAC4 ENST00000495983 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ST6GALNAC4 HGNC ENSG00000136840 tier1 74 0 0.00 46 14 23.33 ST7-OT4 0 genome.wustl.edu 37 7 116596663 116596663 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 116596663 116596663 G - DEL ST7-OT4 ENST00000397750 human ensembl 74_37 +1 putative frame_shift_del c.256 p.G87fs 0.000 NULL NULL - no_errors ST7-OT4 HGNC ENSG00000214188 tier1 54 0 0.00 34 6 15.00 STARD13 0 genome.wustl.edu 37 13 33703975 33703975 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 33703975 33703975 C A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.839 p.R280L 0.835 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 45 0 0.00 28 7 20.00 STARD7 0 genome.wustl.edu 37 2 96852544 96852544 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 96852544 96852544 T C SNP STARD7 ENST00000337288 human ensembl 74_37 -1 known missense c.1037 p.E346G 1.000 NULL pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD7 HGNC ENSG00000084090 tier1 - - 75 0 0.00 47 11 18.97 STARD9 0 genome.wustl.edu 37 15 42982290 42982290 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 42982290 42982290 T C SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known silent c.8514 p.P2838 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 22 0 0.00 16 5 23.81 STAT1 0 genome.wustl.edu 37 2 191873795 191873795 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 191873795 191873795 C T SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.167 p.R56H 0.003 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 tier1 - - 58 0 0.00 31 9 22.50 STAT5A 0 genome.wustl.edu 37 17 40453399 40453399 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 40453399 40453399 C - DEL STAT5A ENST00000345506 human ensembl 74_37 +1 known frame_shift_del c.1096 p.Q368fs 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 tier1 90 0 0.00 72 12 14.29 STAT5B 0 genome.wustl.edu 37 17 40370235 40370236 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 40370235 40370236 - G INS STAT5B ENST00000293328 human ensembl 74_37 -1 known frame_shift_ins c.1103_1102 p.Q368fs 1.000:1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 tier1 79 0 0.00 41 13 24.07 STH 0 genome.wustl.edu 37 17 44076968 44076968 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 44076968 44076968 A G SNP STH ENST00000537309 human ensembl 74_37 +1 known missense c.323 p.H108R 0.000 NULL NULL - no_errors STH HGNC ENSG00000256762 tier1 - - 29 0 0.00 28 6 17.65 STK11 0 genome.wustl.edu 37 19 1221309 1221310 + Frame_Shift_Del DEL TG TG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 1221309 1221310 TG 0 DEL STK11 ENST00000326873 human ensembl 74_37 +1 known frame_shift_del c.832_833 p.C278fs 1.000:1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors STK11 HGNC ENSG00000118046 74 0 0.00 63 6 8.70 STON2 0 genome.wustl.edu 37 14 81737144 81737144 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 81737144 81737144 G A SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.2483 p.A828V 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 20 0 0.00 33 2 5.71 STX16-NPEPL1 0 genome.wustl.edu 37 20 57266488 57266488 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 57266488 57266488 A - DEL STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known frame_shift_del c.1095 p.N368fs 0.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 tier1 55 0 0.00 48 9 15.79 STX4 0 genome.wustl.edu 37 16 31044421 31044421 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 31044421 31044421 C T SNP STX4 ENST00000493902 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors STX4 HGNC ENSG00000103496 tier1 - - 24 0 0.00 27 4 12.90 SUGT1 0 genome.wustl.edu 37 13 53239840 53239840 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 53239840 53239840 A G SNP SUGT1 ENST00000343788 human ensembl 74_37 +1 known missense c.587 p.D196G 1.000 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_SGS,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SUGT1 HGNC ENSG00000165416 tier1 - - 62 0 0.00 49 4 7.55 SUPT6H 0 genome.wustl.edu 37 17 27002426 27002426 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 27002426 27002426 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known silent c.546 p.D182 0.115 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,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 tier1 - - 29 0 0.00 25 8 24.24 SUPT6H 0 genome.wustl.edu 37 17 27028124 27028124 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 27028124 27028124 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.4972 p.R1658W 0.981 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,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 tier1 - - 45 0 0.00 28 20 41.67 SUSD3 0 genome.wustl.edu 37 9 95838183 95838183 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 95838183 95838183 G T SNP SUSD3 ENST00000375472 human ensembl 74_37 +1 known missense c.206 p.G69V 0.990 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD3 HGNC ENSG00000157303 tier1 - - 45 0 0.00 36 12 25.00 SVOPL 0 genome.wustl.edu 37 7 138356801 138356801 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 138356801 138356801 C A SNP SVOPL ENST00000419765 human ensembl 74_37 -1 novel missense c.236 p.W79L 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 tier1 - - 113 0 0.00 65 18 21.69 SYCP1 0 genome.wustl.edu 37 1 115419373 115419373 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 115419373 115419373 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.743 p.I250fs 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 121 0 0.00 88 33 27.27 SYCP3 0 genome.wustl.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 102122901 102122901 T - DEL SYCP3 ENST00000266743 human ensembl 74_37 -1 known frame_shift_del c.643 p.I215fs 0.988 NULL pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 tier1 49 0 0.00 39 5 11.36 SYDE1 0 genome.wustl.edu 37 19 15218306 15218306 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 15218306 15218306 G A SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.62 p.R21Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 tier1 - - 18 0 0.00 10 5 33.33 SYDE1 0 genome.wustl.edu 37 19 15224472 15224472 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 15224472 15224472 C T SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.1906 p.R636W 0.946 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 tier1 - - 51 0 0.00 29 8 21.05 SYMPK 0 genome.wustl.edu 37 19 46357678 46357678 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 46357678 46357678 C A SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.76 p.G26C 0.989 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 29 0 0.00 28 2 6.67 SYNE1 0 genome.wustl.edu 37 6 152826487 152826487 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 152826487 152826487 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.627 p.S209 0.157 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 36 0 0.00 17 12 41.38 SYNE2 0 genome.wustl.edu 37 14 64443352 64443352 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 64443352 64443352 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.1200 p.Q400H 0.745 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 176 0 0.00 192 36 15.79 SYNE2 0 genome.wustl.edu 37 14 64465666 64465666 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 64465666 64465666 C A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.3388 p.L1130M 0.019 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 32 0 0.00 24 4 14.29 SYNJ2 0 genome.wustl.edu 37 6 158508008 158508009 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 158508008 158508009 - C INS SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_ins c.3330_3331 p.P1113fs 1.000:1.000 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 tier1 45 0 0.00 41 8 16.33 SYNPO 0 genome.wustl.edu 37 5 150028878 150028878 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 150028878 150028878 C T SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known silent c.1773 p.S591 0.015 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 tier1 - - 34 0 0.00 33 12 26.09 SYNPO2L 0 genome.wustl.edu 37 10 75406682 75406682 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 75406682 75406682 G - DEL SYNPO2L ENST00000394810 human ensembl 74_37 -1 known frame_shift_del c.2728 p.R910fs 0.868 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 tier1 103 0 0.00 77 12 13.48 SYT8 0 genome.wustl.edu 37 11 1856515 1856515 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 1856515 1856515 C A SNP SYT8 ENST00000424556 human ensembl 74_37 +1 known missense c.101 p.P34H 0.000 NULL NULL - no_errors SYT8 HGNC ENSG00000149043 tier1 - - 64 0 0.00 38 19 33.33 SZT2 0 genome.wustl.edu 37 1 43905341 43905341 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 43905341 43905341 C - DEL SZT2 ENST00000562955 human ensembl 74_37 +1 known frame_shift_del c.6772 p.S2260fs 0.994 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 tier1 31 0 0.00 30 4 11.76 TACC1 0 genome.wustl.edu 37 8 38677720 38677721 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 38677720 38677721 - T INS TACC1 ENST00000379931 human ensembl 74_37 +1 known frame_shift_ins c.958_959 p.E321fs 0.699:0.697 NULL pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 tier1 38 0 0.00 37 5 11.90 TACC3 0 genome.wustl.edu 37 4 1730307 1730308 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 1730307 1730308 - C INS TACC3 ENST00000313288 human ensembl 74_37 +1 known frame_shift_ins c.1178_1179 p.M396fs 0.001:0.000 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 tier1 94 0 0.00 78 17 17.89 TADA2B 0 genome.wustl.edu 37 4 7056451 7056451 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 7056451 7056451 G A SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known silent c.933 p.A311 0.005 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 tier1 - - 21 0 0.00 18 5 21.74 TAF2 0 genome.wustl.edu 37 8 120744196 120744196 + Silent SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 120744196 120744196 T G SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known silent c.3568 p.R1190 1.000 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 tier1 - - 57 0 0.00 35 20 36.36 TANC1 0 genome.wustl.edu 37 2 160076366 160076366 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 160076366 160076366 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known silent c.3666 p.G1222 0.002 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,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 28 0 0.00 19 2 9.52 TANC2 0 genome.wustl.edu 37 17 61482566 61482566 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 61482566 61482566 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.3193 p.R1065C 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 19 0 0.00 19 2 9.52 TANGO6 0 genome.wustl.edu 37 16 68894134 68894134 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 68894134 68894134 G A SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.442 p.V148I 0.057 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 tier1 rs201171315 - 47 0 0.00 57 9 13.64 TARS 0 genome.wustl.edu 37 5 33448779 33448779 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 33448779 33448779 A G SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.271 p.K91E 1.000 pfam_TGS,superfamily_TGS-like pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 tier1 - - 29 0 0.00 19 7 26.92 TAS2R41 0 genome.wustl.edu 37 7 143175407 143175407 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 143175407 143175407 T - DEL TAS2R41 ENST00000408916 human ensembl 74_37 +1 known frame_shift_del c.442 p.W150fs 0.499 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 tier1 39 0 0.00 43 8 15.69 TBC1D1 0 genome.wustl.edu 37 4 38020002 38020002 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 38020002 38020002 A G SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.910 p.S304G 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 tier1 - - 41 0 0.00 48 7 12.73 TBC1D20 0 genome.wustl.edu 37 20 416262 416262 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 416262 416262 C T SNP TBC1D20 ENST00000461188 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D20 HGNC ENSG00000125875 tier1 - - 17 0 0.00 14 4 22.22 TBC1D20 0 genome.wustl.edu 37 20 418035 418035 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 418035 418035 T - DEL TBC1D20 ENST00000461188 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D20 HGNC ENSG00000125875 tier1 56 0 0.00 44 13 22.81 TBC1D20 0 genome.wustl.edu 37 20 418551 418551 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 418551 418551 A - DEL TBC1D20 ENST00000461188 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D20 HGNC ENSG00000125875 tier1 28 0 0.00 27 4 12.90 TBC1D21 0 genome.wustl.edu 37 15 74174063 74174063 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 74174063 74174063 C T SNP TBC1D21 ENST00000300504 human ensembl 74_37 +1 known missense c.247 p.R83W 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_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 TBC1D21 HGNC ENSG00000167139 tier1 - - 36 0 0.00 36 11 23.40 TBC1D23 0 genome.wustl.edu 37 3 100014178 100014180 + In_Frame_Del DEL AAG AAG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 100014178 100014180 AAG - DEL TBC1D23 ENST00000394144 human ensembl 74_37 +1 known in_frame_del c.758_760 p.E255in_frame_del 1.000:1.000:1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 tier1 49 0 0.00 53 8 13.11 TBC1D32 0 genome.wustl.edu 37 6 121563364 121563364 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 121563364 121563364 A G SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.2140 p.Y714H 0.995 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 38 0 0.00 36 9 20.00 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58066626 58066626 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 58066626 58066626 T C SNP TBC1D3P1-DHX40P1 ENST00000587125 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 tier1 - - 40 0 0.00 57 6 9.52 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58066651 58066651 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 58066651 58066651 C T SNP TBC1D3P1-DHX40P1 ENST00000587125 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 tier1 - - 54 0 0.00 69 6 8.00 TBC1D5 0 genome.wustl.edu 37 3 17208335 17208335 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 17208335 17208335 T C SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known missense c.2018 p.N673S 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 tier1 - - 79 0 0.00 65 5 7.14 TBC1D8 0 genome.wustl.edu 37 2 101667040 101667040 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 101667040 101667040 G A SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.695 p.T232M 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 tier1 - - 57 0 0.00 47 9 16.07 TBC1D9B 0 genome.wustl.edu 37 5 179292737 179292737 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 179292737 179292737 C T SNP TBC1D9B ENST00000518085 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TBC1D9B HGNC ENSG00000197226 tier1 - - 45 0 0.00 40 18 31.03 TBK1 0 genome.wustl.edu 37 12 64868147 64868147 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 64868147 64868147 G T SNP TBK1 ENST00000331710 human ensembl 74_37 +1 known silent c.678 p.G226 0.999 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_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_dom - no_errors TBK1 HGNC ENSG00000183735 tier1 - - 59 0 0.00 51 4 7.27 TBL1XR1 0 genome.wustl.edu 37 3 176743311 176743311 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 176743311 176743311 A C SNP TBL1XR1 ENST00000430069 human ensembl 74_37 -1 known missense c.1520 p.V507G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 31 0 0.00 38 5 11.63 TCEAL2 0 genome.wustl.edu 37 X 101381878 101381878 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 101381878 101381878 C A SNP TCEAL2 ENST00000329035 human ensembl 74_37 +1 known missense c.76 p.H26N 0.000 NULL pfam_TF_A-like/BEX-like - no_errors TCEAL2 HGNC ENSG00000184905 tier1 - - 61 0 0.00 13 12 48.00 TCERG1 0 genome.wustl.edu 37 5 145883589 145883589 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 145883589 145883589 T - DEL TCERG1 ENST00000509787 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCERG1 HGNC ENSG00000113649 tier1 42 0 0.00 29 3 9.38 TCF12 0 genome.wustl.edu 37 15 57565313 57565313 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 57565313 57565313 C T SNP TCF12 ENST00000438423 human ensembl 74_37 +1 known missense c.1831 p.R611C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 tier1 - - 52 0 0.00 25 6 19.35 TCF20 0 genome.wustl.edu 37 22 42564716 42564716 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 42564716 42564716 G - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_del c.5826 p.L1943fs 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 51 0 0.00 47 9 16.07 TCF25 0 genome.wustl.edu 37 16 89951020 89951020 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 89951020 89951020 A - DEL TCF25 ENST00000263346 human ensembl 74_37 +1 known frame_shift_del c.385 p.K131fs 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 tier1 45 0 0.00 33 12 26.67 TCF4 0 genome.wustl.edu 37 18 53302976 53302976 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 53302976 53302976 C A SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.153 p.W51C 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 tier1 - - 43 0 0.00 22 11 33.33 TCHH 0 genome.wustl.edu 37 1 152080543 152080543 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 152080543 152080543 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.5150 p.R1717H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 65 0 0.00 60 4 6.25 TCHH 0 genome.wustl.edu 37 1 152085240 152085241 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 152085240 152085241 - C INS TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_ins c.453_452 p.E152fs 0.002:0.019 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 35 0 0.00 32 4 11.11 TCN2 0 genome.wustl.edu 37 22 31006966 31006966 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 31006966 31006966 T C SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known missense c.173 p.L58P 1.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 tier1 - - 91 0 0.00 65 26 28.57 TCP1 0 genome.wustl.edu 37 6 160202059 160202059 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 160202059 160202059 T A SNP TCP1 ENST00000321394 human ensembl 74_37 -1 known missense c.881 p.D294V 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_alpha pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_alpha - no_errors TCP1 HGNC ENSG00000120438 tier1 - - 61 0 0.00 52 6 10.34 TCTN1 0 genome.wustl.edu 37 12 111085086 111085086 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 111085086 111085086 C A SNP TCTN1 ENST00000397659 human ensembl 74_37 +1 known missense c.1580 p.P527Q 1.000 NULL pfam_DUF1619 - no_errors TCTN1 HGNC ENSG00000204852 tier1 - - 54 0 0.00 39 22 36.07 TDP1 0 genome.wustl.edu 37 14 90485719 90485719 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 90485719 90485719 T A SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known missense c.1601 p.I534N 1.000 pfam_Tyr-DNA_phospho pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 tier1 - - 48 0 0.00 48 7 12.73 TDRD3 0 genome.wustl.edu 37 13 61103042 61103042 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 61103042 61103042 T C SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known silent c.1683 p.G561 0.336 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 tier1 - - 75 0 0.00 62 8 11.43 TDRD6 0 genome.wustl.edu 37 6 46657580 46657580 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 46657580 46657580 G A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.1715 p.R572Q 0.979 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 50 0 0.00 66 18 21.43 TDRG1 0 genome.wustl.edu 37 6 40347103 40347104 + RNA INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 40347103 40347104 - C INS TDRG1 ENST00000373170 human ensembl 74_37 +1 known rna NULL NULL 0.014:0.008 - - - no_errors TDRG1 HGNC ENSG00000204091 tier1 47 0 0.00 47 13 21.67 TECRL 0 genome.wustl.edu 37 4 65155449 65155449 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 65155449 65155449 A G SNP TECRL ENST00000381210 human ensembl 74_37 -1 known silent c.811 p.L271 0.058 pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 tier1 - - 41 0 0.00 37 9 19.57 TENM3 0 genome.wustl.edu 37 4 183714347 183714347 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 183714347 183714347 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.6522 p.R2174 1.000 superfamily_Cyt_c-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 35 0 0.00 19 7 26.92 TEPP 0 genome.wustl.edu 37 16 58010398 58010398 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 58010398 58010398 G A SNP TEPP ENST00000290871 human ensembl 74_37 +1 known missense c.23 p.C8Y 0.082 NULL NULL - no_errors TEPP HGNC ENSG00000159648 tier1 - - 67 0 0.00 39 7 15.22 TET2 0 genome.wustl.edu 37 4 106164884 106164884 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 106164884 106164884 C T SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.3752 p.T1251M 0.099 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 46 0 0.00 29 10 25.64 TET2 0 genome.wustl.edu 37 4 106196910 106196910 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 106196910 106196910 A G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.5243 p.N1748S 0.002 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 15 0 0.00 15 4 21.05 TEX15 0 genome.wustl.edu 37 8 30701437 30701437 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 30701437 30701437 T C SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known silent c.5097 p.T1699 0.951 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 61 0 0.00 54 4 6.90 TFB1M 0 genome.wustl.edu 37 6 155581483 155581483 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 155581483 155581483 G T SNP TFB1M ENST00000367166 human ensembl 74_37 -1 known missense c.718 p.Q240K 1.000 pfam_rRNA_Ade_methylase_transferase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 tier1 - - 73 0 0.00 77 5 6.10 TFDP2 0 genome.wustl.edu 37 3 141697454 141697454 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 141697454 141697454 C T SNP TFDP2 ENST00000489671 human ensembl 74_37 -1 known missense c.427 p.V143I 1.000 pfam_E2F_TDP,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP2 HGNC ENSG00000114126 tier1 - - 71 0 0.00 55 8 12.70 TGFBR2 0 genome.wustl.edu 37 3 30691872 30691872 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 30691872 30691872 A - DEL TGFBR2 ENST00000359013 human ensembl 74_37 +1 known frame_shift_del c.449 p.K153fs 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 51 0 0.00 41 15 26.79 TGM3 0 genome.wustl.edu 37 20 2312875 2312875 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 2312875 2312875 G A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.1561 p.A521T 0.993 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 tier1 - - 34 0 0.00 29 7 19.44 TH 0 genome.wustl.edu 37 11 2189810 2189810 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 2189810 2189810 C T SNP TH ENST00000381178 human ensembl 74_37 -1 known missense c.491 p.R164H 1.000 pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 tier1 - - 56 0 0.00 26 12 31.58 THAP7 0 genome.wustl.edu 37 22 21355663 21355663 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 21355663 21355663 G A SNP THAP7 ENST00000215742 human ensembl 74_37 -1 known silent c.118 p.L40 1.000 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC ENSG00000184436 tier1 - - 89 0 0.00 53 24 30.77 THBS2 0 genome.wustl.edu 37 6 169634947 169634947 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 169634947 169634947 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.1533 p.A511 0.252 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 tier1 - - 71 0 0.00 65 11 14.47 THBS2 0 genome.wustl.edu 37 6 169639773 169639773 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 169639773 169639773 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.1050 p.C350 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 tier1 - - 34 0 0.00 23 4 14.81 THBS3 0 genome.wustl.edu 37 1 155167348 155167348 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 155167348 155167348 C T SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known missense c.2405 p.G802D 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 tier1 - - 41 0 0.00 18 4 18.18 THRA 0 genome.wustl.edu 37 17 38244561 38244561 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 38244561 38244561 G A SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.790 p.A264T 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 tier1 - - 51 0 0.00 44 8 15.38 TICRR 0 genome.wustl.edu 37 15 90163024 90163024 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 90163024 90163024 G A SNP TICRR ENST00000268138 human ensembl 74_37 +1 known silent c.3105 p.P1035 0.001 NULL NULL - no_errors TICRR HGNC ENSG00000140534 tier1 - - 67 0 0.00 40 7 14.89 TIE1 0 genome.wustl.edu 37 1 43770890 43770890 + RNA SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 43770890 43770890 C A SNP TIE1 ENST00000485125 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 69 0 0.00 59 15 20.27 TIGD2 0 genome.wustl.edu 37 4 90034766 90034766 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 90034766 90034766 G A SNP TIGD2 ENST00000317005 human ensembl 74_37 +1 known missense c.641 p.C214Y 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD2 HGNC ENSG00000180346 49 0 0.00 26 4 13.33 TLCD1 0 genome.wustl.edu 37 17 27051859 27051859 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 27051859 27051859 C - DEL TLCD1 ENST00000292090 human ensembl 74_37 -1 known frame_shift_del c.413 p.G138fs 0.737 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 tier1 31 0 0.00 22 6 21.43 TLE2 0 genome.wustl.edu 37 19 3019732 3019732 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 3019732 3019732 G T SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.334 p.Q112K 1.000 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 tier1 - - 166 0 0.00 136 10 6.85 TLX3 0 genome.wustl.edu 37 5 170736463 170736463 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 170736463 170736463 G T SNP TLX3 ENST00000296921 human ensembl 74_37 +1 known missense c.94 p.A32S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors TLX3 HGNC ENSG00000164438 tier1 - - 24 0 0.00 12 4 25.00 TM9SF4 0 genome.wustl.edu 37 20 30730863 30730863 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 30730863 30730863 C T SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.607 p.R203C 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 tier1 rs199761347 - 52 0 0.00 40 9 18.00 TMC2 0 genome.wustl.edu 37 20 2621828 2621828 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 2621828 2621828 C T SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2552 p.A851V 0.030 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 tier1 - - 67 0 0.00 60 8 11.76 TMC4 0 genome.wustl.edu 37 19 54668189 54668189 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 54668189 54668189 C T SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known silent c.1092 p.T364 0.000 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 tier1 - - 94 0 0.00 58 28 32.56 TMC8 0 genome.wustl.edu 37 17 76135299 76135299 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 76135299 76135299 G T SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known missense c.1880 p.R627M 0.139 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 tier1 - - 30 0 0.00 21 17 44.74 TMCC2 0 genome.wustl.edu 37 1 205211075 205211075 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 205211075 205211075 G A SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.650 p.R217H 0.997 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 tier1 - - 21 0 0.00 10 10 50.00 TMEFF2 0 genome.wustl.edu 37 2 193049181 193049181 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 193049181 193049181 C T SNP TMEFF2 ENST00000272771 human ensembl 74_37 -1 known missense c.311 p.G104D 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 tier1 - - 42 0 0.00 34 5 12.82 TMEM121 0 genome.wustl.edu 37 14 105995579 105995579 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 105995579 105995579 C T SNP TMEM121 ENST00000392519 human ensembl 74_37 +1 known silent c.408 p.Y136 0.998 NULL NULL - no_errors TMEM121 HGNC ENSG00000184986 tier1 - - 79 0 0.00 49 5 9.26 TMEM129 0 genome.wustl.edu 37 4 1719363 1719363 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 1719363 1719363 G T SNP TMEM129 ENST00000382936 human ensembl 74_37 -1 known silent c.720 p.L240 0.988 pfam_Tmpp129 pfam_Tmpp129 - no_errors TMEM129 HGNC ENSG00000168936 tier1 - - 29 0 0.00 24 5 17.24 TMEM131 0 genome.wustl.edu 37 2 98543889 98543889 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 98543889 98543889 C A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.249 p.Q83H 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 tier1 - - 63 0 0.00 46 6 11.54 TMEM132B 0 genome.wustl.edu 37 12 126128809 126128809 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 126128809 126128809 C T SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.1610 p.P537L 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 64 0 0.00 58 19 24.68 TMEM132C 0 genome.wustl.edu 37 12 129181916 129181916 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 129181916 129181916 A C SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.2077 p.T693P 0.928 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 36 0 0.00 21 11 34.38 TMEM132C 0 genome.wustl.edu 37 12 129189895 129189895 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 129189895 129189895 C T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known silent c.2382 p.N794 0.003 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 31 0 0.00 41 14 25.45 TMEM132D 0 genome.wustl.edu 37 12 130184428 130184428 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 130184428 130184428 C T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.895 p.V299M 0.014 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 50 0 0.00 38 6 13.64 TMEM184A 0 genome.wustl.edu 37 7 1585319 1585319 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 1585319 1585319 G - DEL TMEM184A ENST00000421996 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TMEM184A HGNC ENSG00000164855 tier1 16 0 0.00 18 6 25.00 TMEM184C 0 genome.wustl.edu 37 4 148550763 148550764 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 148550763 148550764 - T INS TMEM184C ENST00000296582 human ensembl 74_37 +1 known frame_shift_ins c.586_587 p.G197fs 0.015:0.026 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 tier1 75 0 0.00 51 18 26.09 TMEM186 0 genome.wustl.edu 37 16 8889941 8889941 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 8889941 8889941 C T SNP TMEM186 ENST00000333050 human ensembl 74_37 -1 known silent c.510 p.R170 0.000 NULL NULL - no_errors TMEM186 HGNC ENSG00000184857 tier1 - - 74 0 0.00 80 19 19.19 TMEM191A 0 genome.wustl.edu 37 22 21058315 21058315 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 21058315 21058315 C T SNP TMEM191A ENST00000419950 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TMEM191A HGNC ENSG00000226287 tier1 - - 77 0 0.00 105 9 7.89 TMEM194B 0 genome.wustl.edu 37 2 191382316 191382316 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 191382316 191382316 G A SNP TMEM194B ENST00000409150 human ensembl 74_37 -1 known missense c.542 p.S181L 0.009 pfam_TMEM194 pfam_TMEM194 - no_errors TMEM194B HGNC ENSG00000189362 tier1 - - 59 0 0.00 44 8 15.38 TMEM200B 0 genome.wustl.edu 37 1 29447700 29447700 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 29447700 29447700 C T SNP TMEM200B ENST00000420504 human ensembl 74_37 -1 known missense c.641 p.R214H 0.998 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200B HGNC ENSG00000253304 tier1 - - 53 0 0.00 23 12 34.29 TMEM229B 0 genome.wustl.edu 37 14 67940219 67940219 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 67940219 67940219 C T SNP TMEM229B ENST00000357461 human ensembl 74_37 -1 known missense c.422 p.R141H 1.000 NULL pfam_DUF1113_TMEM229 - no_errors TMEM229B HGNC ENSG00000198133 tier1 - - 69 0 0.00 45 13 22.41 TMEM232 0 genome.wustl.edu 37 5 109940905 109940905 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 109940905 109940905 T - DEL TMEM232 ENST00000429839 human ensembl 74_37 -1 known frame_shift_del c.1181 p.N394fs 0.000 NULL NULL - no_errors TMEM232 HGNC ENSG00000186952 tier1 71 0 0.00 47 9 16.07 TMEM246 0 genome.wustl.edu 37 9 104238840 104238840 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 104238840 104238840 G A SNP TMEM246 ENST00000374847 human ensembl 74_37 -1 known missense c.535 p.P179S 1.000 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 tier1 - - 53 0 0.00 34 4 10.53 TMEM254 0 genome.wustl.edu 37 10 81850719 81850719 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 81850719 81850719 T - DEL TMEM254 ENST00000463029 human ensembl 74_37 +1 known rna NULL NULL 0.071 - - - no_errors TMEM254 HGNC ENSG00000133678 tier1 67 0 0.00 41 13 24.07 TMEM52B 0 genome.wustl.edu 37 12 10342726 10342726 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 10342726 10342726 A G SNP TMEM52B ENST00000381923 human ensembl 74_37 +1 known missense c.539 p.D180G 0.000 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 tier1 - - 33 0 0.00 47 15 24.19 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 tier1 27 0 0.00 19 5 20.83 TMEM63A 0 genome.wustl.edu 37 1 226040372 226040372 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 226040372 226040372 C T SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known silent c.1896 p.A632 0.912 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 tier1 - - 40 0 0.00 41 5 10.87 TMEM63A 0 genome.wustl.edu 37 1 226053805 226053805 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 226053805 226053805 G - DEL TMEM63A ENST00000474478 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM63A HGNC ENSG00000196187 tier1 23 0 0.00 25 4 13.79 TMEM63C 0 genome.wustl.edu 37 14 77719651 77719653 + In_Frame_Del DEL GAG GAG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 77719651 77719653 GAG - DEL TMEM63C ENST00000298351 human ensembl 74_37 +1 known in_frame_del c.2152_2154 p.E721in_frame_del 0.827:0.901:0.910 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 tier1 33 0 0.00 39 6 13.33 TMEM69 0 genome.wustl.edu 37 1 46158997 46158997 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 46158997 46158997 C T SNP TMEM69 ENST00000372025 human ensembl 74_37 +1 known missense c.164 p.P55L 0.899 NULL pfam_DUF3429 - no_errors TMEM69 HGNC ENSG00000159596 tier1 - - 39 0 0.00 47 4 7.84 TMEM95 0 genome.wustl.edu 37 17 7259514 7259514 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7259514 7259514 G - DEL TMEM95 ENST00000330767 human ensembl 74_37 +1 known frame_shift_del c.352 p.G119fs 1.000 NULL NULL - no_errors TMEM95 HGNC ENSG00000182896 tier1 25 0 0.00 19 4 17.39 TMEM97 0 genome.wustl.edu 37 17 26653807 26653807 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 26653807 26653807 A - DEL TMEM97 ENST00000226230 human ensembl 74_37 +1 known frame_shift_del c.519 p.K176fs 1.000 pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 tier1 21 0 0.00 9 7 43.75 TMPRSS11A 0 genome.wustl.edu 37 4 68780360 68780360 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 68780360 68780360 T C SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known missense c.1050 p.I350M 0.994 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 tier1 - - 68 0 0.00 45 17 27.42 TMPRSS12 0 genome.wustl.edu 37 12 51252715 51252715 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 51252715 51252715 A - DEL TMPRSS12 ENST00000398458 human ensembl 74_37 +1 known frame_shift_del c.531 p.A180fs 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS12 HGNC ENSG00000186452 tier1 65 0 0.00 50 21 29.58 TMPRSS4 0 genome.wustl.edu 37 11 117985923 117985923 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 117985923 117985923 T A SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known missense c.1080 p.D360E 0.120 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 tier1 - - 49 0 0.00 53 4 7.02 TMPRSS7 0 genome.wustl.edu 37 3 111764731 111764731 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 111764731 111764731 G A SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known missense c.293 p.R98Q 1.000 NULL pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 tier1 - - 128 0 0.00 102 34 24.82 TMPRSS9 0 genome.wustl.edu 37 19 2405411 2405411 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 2405411 2405411 T C SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.608 p.I203T 0.999 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 tier1 - - 66 0 0.00 38 11 22.45 TMTC1 0 genome.wustl.edu 37 12 29670503 29670503 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 29670503 29670503 C T SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.1702 p.A568T 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 tier1 - - 31 0 0.00 23 6 20.00 TNFRSF12A 0 genome.wustl.edu 37 16 3071775 3071775 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 3071775 3071775 C T SNP TNFRSF12A ENST00000326577 human ensembl 74_37 +1 known missense c.338 p.P113L 1.000 pfam_TNFR_12,prints_TNFR_12 pfam_TNFR_12,prints_TNFR_12 - no_errors TNFRSF12A HGNC ENSG00000006327 tier1 - - 62 0 0.00 48 8 14.29 TNFRSF8 0 genome.wustl.edu 37 1 12195644 12195644 + Splice_Site SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 12195644 12195644 G T SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known splice_site c.1310-1 e13-1 1.000 - - - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 - - 163 0 0.00 121 15 11.03 TNFSF12 0 genome.wustl.edu 37 17 7460641 7460641 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 7460641 7460641 T C SNP TNFSF12 ENST00000293825 human ensembl 74_37 +1 known missense c.724 p.Y242H 1.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF12 HGNC ENSG00000239697 tier1 - - 13 0 0.00 11 5 31.25 TNFSF8 0 genome.wustl.edu 37 9 117692515 117692515 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 117692515 117692515 C T SNP TNFSF8 ENST00000223795 human ensembl 74_37 -1 known silent c.69 p.P23 0.000 pirsf_TNF_CD30_ligand_type pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom - no_errors TNFSF8 HGNC ENSG00000106952 58 0 0.00 42 4 8.70 TNFSF9 0 genome.wustl.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 6531149 6531151 GCT 0 DEL TNFSF9 ENST00000245817 human ensembl 74_37 +1 known in_frame_del c.102_104 p.L38in_frame_del 0.039:0.043:0.048 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF9 HGNC ENSG00000125657 20 0 0.00 7 2 22.22 TNRC6B 0 genome.wustl.edu 37 22 40657941 40657941 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 40657941 40657941 C T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.221 p.A74V 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 tier1 - - 143 0 0.00 144 18 11.11 TNS3 0 genome.wustl.edu 37 7 47408140 47408140 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 47408140 47408140 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.2103 p.Q701 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 tier1 - - 77 0 0.00 59 8 11.94 TNXB 0 genome.wustl.edu 37 6 32010327 32010327 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 32010327 32010327 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.12109 p.G4037S 0.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 55 0 0.00 45 15 24.59 TNXB 0 genome.wustl.edu 37 6 32030199 32030199 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 32030199 32030199 G - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.6903 p.I2302fs 0.002 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 60 0 0.00 48 11 18.64 TOP3B 0 genome.wustl.edu 37 22 22318305 22318305 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 22318305 22318305 C A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.1194 p.E398D 0.997 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 tier1 - - 23 0 0.00 11 8 42.11 TOPBP1 0 genome.wustl.edu 37 3 133331322 133331322 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 133331322 133331322 C T SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.3946 p.E1316K 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 tier1 - - 23 0 0.00 15 5 25.00 TP53BP1 0 genome.wustl.edu 37 15 43748969 43748969 + Nonsense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 43748969 43748969 C A SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known nonsense c.1837 p.E613* 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 tier1 - - 40 0 0.00 46 13 22.03 TP53INP1 0 genome.wustl.edu 37 8 95952411 95952411 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 95952411 95952411 T C SNP TP53INP1 ENST00000342697 human ensembl 74_37 -1 known silent c.150 p.E50 0.009 NULL NULL - no_errors TP53INP1 HGNC ENSG00000164938 tier1 - - 44 0 0.00 26 21 44.68 TPO 0 genome.wustl.edu 37 2 1442587 1442587 + Splice_Site SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 1442587 1442587 G T SNP TPO ENST00000539820 human ensembl 74_37 +1 known splice_site c.483-1 e5-1 0.241 - - - no_errors TPO HGNC ENSG00000115705 tier1 - - 59 0 0.00 48 13 19.12 TPR 0 genome.wustl.edu 37 1 186312523 186312523 + Nonsense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 186312523 186312523 C A SNP TPR ENST00000367478 human ensembl 74_37 -1 known nonsense c.3685 p.E1229* 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 tier1 - - 44 0 0.00 36 8 18.18 TPSD1 0 genome.wustl.edu 37 16 1306980 1306980 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 1306980 1306980 C T SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known missense c.437 p.T146M 0.514 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors TPSD1 HGNC ENSG00000095917 tier1 rs144003164 - 65 0 0.00 61 18 22.78 TRAF3IP1 0 genome.wustl.edu 37 2 239237829 239237830 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 239237829 239237830 - G INS TRAF3IP1 ENST00000373327 human ensembl 74_37 +1 known frame_shift_ins c.761_762 p.K257fs 0.045:0.019 NULL NULL - no_errors TRAF3IP1 HGNC ENSG00000204104 tier1 41 0 0.00 31 12 27.91 TRAK1 0 genome.wustl.edu 37 3 42166922 42166922 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 42166922 42166922 C T SNP TRAK1 ENST00000327628 human ensembl 74_37 +1 putative silent c.102 p.N34 1.000 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 - - 61 0 0.00 54 4 6.90 TRAPPC10 0 genome.wustl.edu 37 21 45502962 45502962 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 45502962 45502962 G A SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.2017 p.A673T 0.067 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 tier1 - - 34 0 0.00 16 8 33.33 TRAPPC11 0 genome.wustl.edu 37 4 184605469 184605469 + Nonsense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 184605469 184605469 G T SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known nonsense c.1378 p.G460* 1.000 pfam_Foie-gras_1 pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 tier1 - - 32 0 0.00 38 6 13.64 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 tier1 54 0 0.00 26 12 31.58 TRHDE-AS1 0 genome.wustl.edu 37 12 72665950 72665950 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 72665950 72665950 G - DEL TRHDE-AS1 ENST00000435350 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors TRHDE-AS1 HGNC ENSG00000236333 tier1 172 0 0.00 124 36 22.50 TRIM10 0 genome.wustl.edu 37 6 30128469 30128469 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 30128469 30128469 G A SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known missense c.167 p.T56I 0.007 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_sf,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 TRIM10 HGNC ENSG00000204613 tier1 - - 69 0 0.00 35 17 32.69 TRIM22 0 genome.wustl.edu 37 11 5719674 5719674 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 5719674 5719674 G A SNP TRIM22 ENST00000379965 human ensembl 74_37 +1 known missense c.649 p.A217T 0.030 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC ENSG00000132274 47 0 0.00 51 3 5.56 TRIM4 0 genome.wustl.edu 37 7 99489839 99489839 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 99489839 99489839 A - DEL TRIM4 ENST00000355947 human ensembl 74_37 -1 known frame_shift_del c.1450 p.W484fs 0.987 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 tier1 20 0 0.00 15 5 25.00 TRIM43 0 genome.wustl.edu 37 2 96262110 96262110 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 96262110 96262110 G T SNP TRIM43 ENST00000272395 human ensembl 74_37 +1 known missense c.668 p.S223I 0.001 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM43 HGNC ENSG00000144015 tier1 - - 130 0 0.00 110 8 6.78 TRIM46 0 genome.wustl.edu 37 1 155156330 155156330 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 155156330 155156330 G A SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known silent c.1944 p.S648 0.370 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 tier1 - - 57 0 0.00 30 9 23.08 TRIM7 0 genome.wustl.edu 37 5 180630477 180630477 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 180630477 180630477 C T SNP TRIM7 ENST00000509199 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TRIM7 HGNC ENSG00000146054 tier1 - - 38 0 0.00 20 5 20.00 TRIM77 0 genome.wustl.edu 37 11 89447424 89447424 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 89447424 89447424 G A SNP TRIM77 ENST00000398290 human ensembl 74_37 +1 known missense c.572 p.R191H 0.006 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM77 HGNC ENSG00000214414 tier1 - - 41 0 0.00 30 7 18.92 TRIM9 0 genome.wustl.edu 37 14 51475876 51475876 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 51475876 51475876 T G SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.1228 p.T410P 1.000 NULL pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,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,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 46 0 0.00 42 3 6.67 TRIO 0 genome.wustl.edu 37 5 14368970 14368970 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 14368970 14368970 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.3028 p.V1010I 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 52 0 0.00 46 8 14.81 TRIOBP 0 genome.wustl.edu 37 22 38122337 38122337 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 38122337 38122337 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known silent c.3774 p.P1258 0.068 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 86 0 0.00 65 13 16.67 TRIOBP 0 genome.wustl.edu 37 22 38129304 38129304 + Splice_Site SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 38129304 38129304 G T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known splice_site c.3948-1 e6-1 1.000 - - - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 83 0 0.00 66 14 17.50 TRMT44 0 genome.wustl.edu 37 4 8480090 8480090 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 8480090 8480090 T C SNP TRMT44 ENST00000511366 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TRMT44 HGNC ENSG00000155275 tier1 - - 20 0 0.00 22 7 24.14 TRPC3 0 genome.wustl.edu 37 4 122854046 122854046 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 122854046 122854046 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.367 p.G123S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 59 0 0.00 42 11 20.75 TRPC3 0 genome.wustl.edu 37 4 122854153 122854153 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 122854153 122854153 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.260 p.R87Q 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 24 0 0.00 32 4 11.11 TRPS1 0 genome.wustl.edu 37 8 116617171 116617171 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 116617171 116617171 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1025 p.N342S 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 42 0 0.00 55 8 12.70 TRPS1 0 genome.wustl.edu 37 8 116631988 116631988 + Missense_Mutation SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 116631988 116631988 A C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.337 p.F113V 0.994 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 37 0 0.00 43 7 14.00 TRPS1 0 genome.wustl.edu 37 8 116632237 116632237 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 116632237 116632237 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.88 p.E30K 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 52 0 0.00 65 4 5.80 TRPV1 0 genome.wustl.edu 37 17 3480936 3480936 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 3480936 3480936 G - DEL TRPV1 ENST00000399756 human ensembl 74_37 -1 known frame_shift_del c.1669 p.R557fs 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 tier1 42 0 0.00 23 10 30.30 TRRAP 0 genome.wustl.edu 37 7 98490094 98490094 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 98490094 98490094 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known silent c.309 p.N103 0.876 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 tier1 - - 71 0 0.00 44 14 24.14 TRRAP 0 genome.wustl.edu 37 7 98508848 98508848 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 98508848 98508848 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.1961 p.T654M 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 tier1 - - 60 0 0.00 67 19 22.09 TSC1 0 genome.wustl.edu 37 9 135779172 135779172 + Nonsense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 135779172 135779172 G A SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known nonsense c.2074 p.R692* 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 rs118203631 - 31 0 0.00 34 4 10.53 TSGA10 0 genome.wustl.edu 37 2 99725853 99725854 + Frame_Shift_Ins INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 99725853 99725854 - G INS TSGA10 ENST00000355053 human ensembl 74_37 -1 known frame_shift_ins c.50_49 p.R17fs 0.992:0.927 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 78 0 0.00 53 19 26.39 TSPAN32 0 genome.wustl.edu 37 11 2338585 2338585 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 2338585 2338585 G A SNP TSPAN32 ENST00000182290 human ensembl 74_37 +1 known missense c.731 p.R244H 0.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 - no_errors TSPAN32 HGNC ENSG00000064201 tier1 - - 32 0 0.00 38 5 11.63 TTBK1 0 genome.wustl.edu 37 6 43221342 43221342 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 43221342 43221342 C T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known nonsense c.367 p.R123* 0.793 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors TTBK1 HGNC ENSG00000146216 tier1 - - 49 0 0.00 37 7 15.91 TTBK1 0 genome.wustl.edu 37 6 43250473 43250473 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 43250473 43250473 C T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.1995 p.S665 0.988 NULL pfam_Prot_kinase_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_dom - no_errors TTBK1 HGNC ENSG00000146216 tier1 - - 38 0 0.00 20 11 35.48 TTBK1 0 genome.wustl.edu 37 6 43251751 43251751 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 43251751 43251751 G A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.3273 p.R1091 0.994 NULL pfam_Prot_kinase_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_dom - no_errors TTBK1 HGNC ENSG00000146216 20 0 0.00 9 6 40.00 TTC21A 0 genome.wustl.edu 37 3 39179044 39179044 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 39179044 39179044 C T SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.3542 p.A1181V 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 68 0 0.00 63 5 7.35 TTC26 0 genome.wustl.edu 37 7 138853316 138853317 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 138853316 138853317 AA - DEL TTC26 ENST00000481482 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.010 - - - no_errors TTC26 HGNC ENSG00000105948 tier1 25 0 0.00 11 4 26.67 TTC5 0 genome.wustl.edu 37 14 20763965 20763966 + Frame_Shift_Del DEL GA GA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 20763965 20763966 GA - DEL TTC5 ENST00000258821 human ensembl 74_37 -1 known frame_shift_del c.745_744 p.R249fs 1.000:1.000 smart_TPR_repeat,pfscan_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC ENSG00000136319 tier1 56 0 0.00 40 19 32.20 TTC5 0 genome.wustl.edu 37 14 20770016 20770016 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 20770016 20770016 G T SNP TTC5 ENST00000258821 human ensembl 74_37 -1 known missense c.160 p.L54I 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC ENSG00000136319 tier1 - - 87 0 0.00 71 10 12.35 TTC7B 0 genome.wustl.edu 37 14 91007520 91007520 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 91007520 91007520 A - DEL TTC7B ENST00000554654 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TTC7B HGNC ENSG00000165914 tier1 32 0 0.00 26 6 18.75 TTI1 0 genome.wustl.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 36627613 36627613 G - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.2770 p.L924fs 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 tier1 52 0 0.00 45 8 15.09 TTL 0 genome.wustl.edu 37 2 113287064 113287064 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 113287064 113287064 A - DEL TTL ENST00000460450 human ensembl 74_37 +1 known rna NULL NULL 0.083 - - - no_errors TTL HGNC ENSG00000114999 tier1 26 0 0.00 20 9 31.03 TTLL10 0 genome.wustl.edu 37 1 1117146 1117146 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 1117146 1117146 G T SNP TTLL10 ENST00000379289 human ensembl 74_37 +1 known missense c.781 p.A261S 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 tier1 - - 90 0 0.00 82 12 12.63 TTLL11 0 genome.wustl.edu 37 9 124632949 124632949 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 124632949 124632949 G A SNP TTLL11 ENST00000321582 human ensembl 74_37 -1 known silent c.1830 p.N610 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL11 HGNC ENSG00000175764 tier1 - - 46 0 0.00 19 17 47.22 TTLL3 0 genome.wustl.edu 37 3 9868737 9868737 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 9868737 9868737 G A SNP TTLL3 ENST00000426895 human ensembl 74_37 +1 known missense c.1360 p.V454M 0.001 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 tier1 rs202230845 - 57 0 0.00 39 17 30.36 TTLL5 0 genome.wustl.edu 37 14 76259374 76259374 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 76259374 76259374 G A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known silent c.3102 p.Q1034 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 tier1 - - 61 0 0.00 34 8 19.05 TTN 0 genome.wustl.edu 37 2 179560737 179560737 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 179560737 179560737 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.27330 p.E9111fs 0.016 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 89 0 0.00 62 20 24.39 TTN 0 genome.wustl.edu 37 2 179616234 179616234 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 179616234 179616234 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.10893 p.I3631M 0.920 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 41 0 0.00 43 7 14.00 TTN 0 genome.wustl.edu 37 2 179411075 179411075 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 179411075 179411075 T 0 DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.87279 p.V29094fs 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 43 0 0.00 34 8 19.05 TTN 0 genome.wustl.edu 37 2 179587594 179587594 + Missense_Mutation SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 179587594 179587594 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.18300 p.C6100W 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 68 0 0.00 72 4 5.26 TUBA8 0 genome.wustl.edu 37 22 18613631 18613631 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 18613631 18613631 C A SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.1078 p.P360T 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,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 TUBA8 HGNC ENSG00000183785 tier1 - - 55 0 0.00 51 12 19.05 TUBB3 0 genome.wustl.edu 37 16 90001340 90001340 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 90001340 90001340 G A SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.481 p.D161N 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 tier1 - - 81 0 0.00 63 10 13.70 TUSC3 0 genome.wustl.edu 37 8 15508230 15508230 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 15508230 15508230 A G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.333 p.I111M 0.992 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 tier1 - - 74 0 0.00 63 5 7.35 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 10867203 10867203 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 tier1 50 0 0.00 35 22 38.60 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 tier1 - - 150 0 0.00 120 13 9.77 TXNDC11 0 genome.wustl.edu 37 16 11773555 11773555 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 11773555 11773555 G A SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known silent c.2454 p.S818 0.148 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 tier1 - - 47 0 0.00 30 7 18.92 TXNDC11 0 genome.wustl.edu 37 16 11824630 11824630 + Missense_Mutation SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 11824630 11824630 A T SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known missense c.570 p.S190R 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 tier1 - - 105 0 0.00 99 9 8.33 UBA6 0 genome.wustl.edu 37 4 68530907 68530907 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 68530907 68530907 A - DEL UBA6 ENST00000322244 human ensembl 74_37 -1 known frame_shift_del c.897 p.F299fs 1.000 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 UBA6 HGNC ENSG00000033178 tier1 100 0 0.00 61 13 17.57 UBE2O 0 genome.wustl.edu 37 17 74396248 74396248 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 74396248 74396248 C - DEL UBE2O ENST00000319380 human ensembl 74_37 -1 known frame_shift_del c.1135 p.E379fs 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 tier1 65 0 0.00 40 20 33.33 UBE3C 0 genome.wustl.edu 37 7 156963108 156963109 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 156963108 156963109 - T INS UBE3C ENST00000348165 human ensembl 74_37 +1 known frame_shift_ins c.306_307 p.Y104fs 1.000:1.000 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 tier1 49 0 0.00 43 12 21.82 UBE3C 0 genome.wustl.edu 37 7 156994495 156994495 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 156994495 156994495 T C SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.1412 p.I471T 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 tier1 - - 42 0 0.00 36 9 20.00 UBN1 0 genome.wustl.edu 37 16 4924667 4924668 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 4924667 4924668 - A INS UBN1 ENST00000262376 human ensembl 74_37 +1 known frame_shift_ins c.2256_2257 p.P754fs 1.000:1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 tier1 48 0 0.00 36 15 29.41 UBR1 0 genome.wustl.edu 37 15 43252855 43252855 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 43252855 43252855 T - DEL UBR1 ENST00000290650 human ensembl 74_37 -1 known frame_shift_del c.4745 p.N1582fs 0.838 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 UBR1 HGNC ENSG00000159459 tier1 47 0 0.00 21 13 38.24 UBR5 0 genome.wustl.edu 37 8 103271268 103271268 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 103271268 103271268 G A SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known silent c.8046 p.C2682 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 tier1 - - 42 0 0.00 66 6 8.33 UBR5 0 genome.wustl.edu 37 8 103309203 103309204 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 103309203 103309204 0 A INS UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_ins c.3583_3582 p.E1194fs 1.000:1.000 pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 67 0 0.00 72 6 7.69 UBXN7-AS1 0 genome.wustl.edu 37 3 196159010 196159011 + RNA INS - - G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 196159010 196159011 - G INS UBXN7-AS1 ENST00000598881 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.004 - - - no_errors UBXN7-AS1 HGNC ENSG00000225822 tier1 44 0 0.00 38 5 11.63 UCK2 0 genome.wustl.edu 37 1 165877195 165877195 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 165877195 165877195 T - DEL UCK2 ENST00000462329 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors UCK2 HGNC ENSG00000143179 tier1 57 0 0.00 22 9 29.03 UGDH 0 genome.wustl.edu 37 4 39505575 39505575 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 39505575 39505575 T - DEL UGDH ENST00000316423 human ensembl 74_37 -1 known frame_shift_del c.1294 p.M432fs 1.000 pfam_UDP-Glc/GDP-Man_DH_C,superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 tier1 32 0 0.00 29 6 17.14 UGT1A3 0 genome.wustl.edu 37 2 234638283 234638283 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 234638283 234638283 T - DEL UGT1A3 ENST00000482026 human ensembl 74_37 +1 known frame_shift_del c.511 p.L173fs 0.996 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 tier1 94 0 0.00 73 28 27.72 UHMK1 0 genome.wustl.edu 37 1 162473599 162473599 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 162473599 162473599 C T SNP UHMK1 ENST00000489294 human ensembl 74_37 +1 known missense c.809 p.A270V 0.998 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom - no_errors UHMK1 HGNC ENSG00000152332 tier1 - - 101 0 0.00 84 5 5.62 UHRF1BP1 0 genome.wustl.edu 37 6 34831896 34831896 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 34831896 34831896 A G SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known silent c.3333 p.S1111 0.030 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 tier1 - - 53 0 0.00 50 11 18.03 UHRF2 0 genome.wustl.edu 37 9 6499821 6499822 + RNA INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 6499821 6499822 - C INS UHRF2 ENST00000492853 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors UHRF2 HGNC ENSG00000147854 tier1 83 0 0.00 51 8 13.56 UNC5B 0 genome.wustl.edu 37 10 73051550 73051550 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 73051550 73051550 G T SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known silent c.1656 p.L552 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 tier1 - - 63 0 0.00 40 4 8.89 UNC80 0 genome.wustl.edu 37 2 210818993 210818993 + Silent SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 210818993 210818993 A C SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known silent c.7258 p.R2420 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 40 0 0.00 20 13 39.39 USH2A 0 genome.wustl.edu 37 1 216373117 216373117 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 216373117 216373117 C A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3663 p.Q1221H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 53 0 0.00 31 7 18.42 USP22 0 genome.wustl.edu 37 17 20914527 20914527 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 20914527 20914527 C T SNP USP22 ENST00000261497 human ensembl 74_37 -1 known missense c.1040 p.G347D 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 tier1 - - 56 0 0.00 38 13 25.00 USP24 0 genome.wustl.edu 37 1 55614173 55614173 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 55614173 55614173 C T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.1451 p.R484H 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 119 0 0.00 103 16 13.45 USP27X-AS1 0 genome.wustl.edu 37 X 49642955 49642957 + RNA DEL CCT CCT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 49642955 49642957 CCT - DEL USP27X-AS1 ENST00000437322 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors USP27X-AS1 HGNC ENSG00000234390 tier1 49 0 0.00 41 14 25.45 USP27X-AS1 0 genome.wustl.edu 37 X 49643277 49643278 + RNA INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 49643277 49643278 - C INS USP27X-AS1 ENST00000437322 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors USP27X-AS1 HGNC ENSG00000234390 tier1 39 0 0.00 10 8 44.44 USP33 0 genome.wustl.edu 37 1 78207076 78207076 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 78207076 78207076 A G SNP USP33 ENST00000357428 human ensembl 74_37 -1 known silent c.213 p.L71 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 tier1 rs143164238 - 88 0 0.00 56 27 32.53 USP36 0 genome.wustl.edu 37 17 76798547 76798547 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 76798547 76798547 T - DEL USP36 ENST00000312010 human ensembl 74_37 -1 known frame_shift_del c.2881 p.R961fs 0.566 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 tier1 106 0 0.00 59 11 15.71 USP42 0 genome.wustl.edu 37 7 6185158 6185158 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 6185158 6185158 C T SNP USP42 ENST00000306177 human ensembl 74_37 +1 known silent c.1002 p.Y334 0.469 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 70 0 0.00 63 4 5.97 USP7 0 genome.wustl.edu 37 16 9000392 9000393 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 9000392 9000393 - T INS USP7 ENST00000344836 human ensembl 74_37 -1 known frame_shift_ins c.1319_1318 p.T440fs 0.997:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 tier1 35 0 0.00 38 13 25.49 UTRN 0 genome.wustl.edu 37 6 144806531 144806531 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 144806531 144806531 C A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.3698 p.S1233Y 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 113 0 0.00 56 13 18.84 VAMP4 0 genome.wustl.edu 37 1 171678847 171678847 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 171678847 171678847 T A SNP VAMP4 ENST00000236192 human ensembl 74_37 -1 known missense c.303 p.R101S 1.000 pfam_Synaptobrevin,pfscan_Synaptobrevin pfam_Synaptobrevin,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP4 HGNC ENSG00000117533 tier1 - - 63 0 0.00 49 6 10.91 VANGL2 0 genome.wustl.edu 37 1 160394994 160394994 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 160394994 160394994 C T SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known silent c.1392 p.S464 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 tier1 - - 47 0 0.00 45 15 25.00 VARS 0 genome.wustl.edu 37 6 31749717 31749717 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 31749717 31749717 G A SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.2254 p.R752W 0.998 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 tier1 - - 31 0 0.00 38 4 9.52 VARS2 0 genome.wustl.edu 37 6 30893443 30893443 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 30893443 30893443 G A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.2998 p.G1000S 0.981 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 35 0 0.00 29 2 6.45 VASP 0 genome.wustl.edu 37 19 46025800 46025800 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 46025800 46025800 C T SNP VASP ENST00000586014 human ensembl 74_37 +1 known missense c.232 p.R78C 0.005 smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors VASP HGNC ENSG00000125753 tier1 - - 45 0 0.00 16 15 46.88 VAT1L 0 genome.wustl.edu 37 16 78011528 78011528 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 78011528 78011528 G A SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known missense c.1196 p.G399E 0.998 NULL pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 tier1 - - 59 0 0.00 58 9 13.43 VAX1 0 genome.wustl.edu 37 10 118896029 118896029 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 118896029 118896029 C T SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known missense c.383 p.R128H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 tier1 - - 102 0 0.00 54 31 36.47 VCP 0 genome.wustl.edu 37 9 35062276 35062276 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 35062276 35062276 T C SNP VCP ENST00000358901 human ensembl 74_37 -1 known missense c.883 p.K295E 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 tier1 - - 33 0 0.00 19 11 36.67 VCP 0 genome.wustl.edu 37 9 35067909 35067909 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 35067909 35067909 A G SNP VCP ENST00000358901 human ensembl 74_37 -1 known missense c.281 p.V94A 1.000 pfam_CDC4_N-term_subdom,superfamily_Asp_de-COase-like_dom,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 tier1 - - 58 0 0.00 62 7 10.14 VDAC1 0 genome.wustl.edu 37 5 133316708 133316710 + RNA DEL TTT TTT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 133316708 133316710 TTT - DEL VDAC1 ENST00000492324 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000:0.000 - - - no_errors VDAC1 HGNC ENSG00000213585 tier1 28 0 0.00 23 6 20.69 VEZF1 0 genome.wustl.edu 37 17 56052100 56052100 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 56052100 56052100 C A SNP VEZF1 ENST00000581208 human ensembl 74_37 -1 known missense c.1300 p.V434F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 36 0 0.00 36 2 5.26 VEZT 0 genome.wustl.edu 37 12 95692928 95692928 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 95692928 95692928 T - DEL VEZT ENST00000356859 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors VEZT HGNC ENSG00000028203 tier1 77 0 0.00 62 8 11.43 VPRBP 0 genome.wustl.edu 37 3 51452148 51452148 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 51452148 51452148 T C SNP VPRBP ENST00000335891 human ensembl 74_37 -1 known missense c.2420 p.D807G 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 tier1 - - 40 0 0.00 31 10 24.39 VPS13C 0 genome.wustl.edu 37 15 62165519 62165519 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 62165519 62165519 T - DEL VPS13C ENST00000261517 human ensembl 74_37 -1 known frame_shift_del c.10504 p.R3502fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 62 0 0.00 69 7 9.21 VPS13C 0 genome.wustl.edu 37 15 62316019 62316019 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 62316019 62316019 T 0 DEL VPS13C ENST00000261517 human ensembl 74_37 -1 known frame_shift_del c.474 p.K158fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 40 0 0.00 49 9 15.52 VPS26B 0 genome.wustl.edu 37 11 134109963 134109963 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 134109963 134109963 C T SNP VPS26B ENST00000281187 human ensembl 74_37 +1 known silent c.459 p.S153 1.000 pfam_VPS26,superfamily_Ig_E-set pfam_VPS26,superfamily_Ig_E-set - no_errors VPS26B HGNC ENSG00000151502 tier1 - - 67 0 0.00 45 6 11.76 VPS36 0 genome.wustl.edu 37 13 53000038 53000038 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 53000038 53000038 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS36 HGNC ENSG00000136100 tier1 57 0 0.00 45 21 31.82 VPS45 0 genome.wustl.edu 37 1 150049819 150049819 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 150049819 150049819 G T SNP VPS45 ENST00000369130 human ensembl 74_37 +1 known missense c.649 p.D217Y 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 tier1 - - 45 0 0.00 34 12 26.09 VPS4A 0 genome.wustl.edu 37 16 69353432 69353432 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 69353432 69353432 G - DEL VPS4A ENST00000254950 human ensembl 74_37 +1 known frame_shift_del c.606 p.E204fs 1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 32 0 0.00 31 4 11.43 VPS4A 0 genome.wustl.edu 37 16 69355062 69355062 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 69355062 69355062 C T SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known silent c.960 p.H320 0.006 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 - - 66 0 0.00 43 14 24.56 VPS72 0 genome.wustl.edu 37 1 151149461 151149461 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 151149461 151149461 T A SNP VPS72 ENST00000368892 human ensembl 74_37 -1 known missense c.754 p.T252S 0.116 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 tier1 - - 47 0 0.00 31 7 17.50 VPS8 0 genome.wustl.edu 37 3 184675241 184675241 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 184675241 184675241 T C SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.3115 p.F1039L 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 tier1 - - 52 0 0.00 43 6 12.24 VWA2 0 genome.wustl.edu 37 10 116013454 116013454 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 116013454 116013454 A G SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known missense c.97 p.T33A 1.000 NULL pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 tier1 - - 70 0 0.00 43 11 20.37 VWA5A 0 genome.wustl.edu 37 11 123994433 123994433 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 123994433 123994433 C T SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known silent c.1086 p.A362 0.052 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 tier1 - - 58 0 0.00 52 11 17.46 VWA7 0 genome.wustl.edu 37 6 31743902 31743902 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 31743902 31743902 G A SNP VWA7 ENST00000375686 human ensembl 74_37 -1 known missense c.352 p.P118S 0.611 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 tier1 - - 46 0 0.00 44 11 20.00 WARS2 0 genome.wustl.edu 37 1 119575742 119575742 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 119575742 119575742 C A SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.875 p.R292L 0.379 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 40 0 0.00 37 3 7.50 WASF1 0 genome.wustl.edu 37 6 110426610 110426610 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 110426610 110426610 C T SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known missense c.713 p.R238K 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 23 0 0.00 28 7 20.00 WASIR1 0 genome.wustl.edu 37 X 155246390 155246390 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 155246390 155246390 C T SNP WASIR1 ENST00000399966 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors WASIR1 HGNC ENSG00000185203 tier1 - - 39 0 0.00 15 13 46.43 WASL 0 genome.wustl.edu 37 7 123332485 123332485 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 123332485 123332485 T - DEL WASL ENST00000223023 human ensembl 74_37 -1 known frame_shift_del c.1263 p.V422fs 1.000 pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 tier1 63 0 0.00 56 10 15.15 WBSCR17 0 genome.wustl.edu 37 7 71135007 71135007 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 71135007 71135007 A G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.1317 p.K439 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 64 0 0.00 42 4 8.70 WDFY2 0 genome.wustl.edu 37 13 52158844 52158845 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 52158844 52158845 - A INS WDFY2 ENST00000298125 human ensembl 74_37 +1 known frame_shift_ins c.21_22 p.P8fs 1.000:1.000 NULL pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 tier1 67 0 0.00 51 15 22.73 WDFY3 0 genome.wustl.edu 37 4 85781626 85781626 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 85781626 85781626 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.119 p.R40Q 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 38 0 0.00 38 2 5.00 WDFY4 0 genome.wustl.edu 37 10 50185013 50185013 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 50185013 50185013 G A SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.9280 p.G3094S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_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 WDFY4 HGNC ENSG00000128815 18 0 0.00 16 12 42.86 WDPCP 0 genome.wustl.edu 37 2 63631702 63631702 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 63631702 63631702 C T SNP WDPCP ENST00000272321 human ensembl 74_37 -1 known missense c.916 p.V306I 0.612 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 tier1 - - 48 0 0.00 31 6 16.22 WDR35 0 genome.wustl.edu 37 2 20137695 20137695 + Silent SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 20137695 20137695 A C SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known silent c.2109 p.A703 0.983 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 35 0 0.00 39 4 9.30 WDR4 0 genome.wustl.edu 37 21 44275838 44275838 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 44275838 44275838 C T SNP WDR4 ENST00000330317 human ensembl 74_37 -1 known missense c.680 p.C227Y 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 WDR4 HGNC ENSG00000160193 tier1 - - 108 0 0.00 70 10 12.50 WDR87 0 genome.wustl.edu 37 19 38379432 38379433 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 38379432 38379433 - T INS WDR87 ENST00000447313 human ensembl 74_37 -1 known frame_shift_ins c.4879_4878 p.R1626fs 0.000:0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 120 0 0.00 111 17 13.28 WDR88 0 genome.wustl.edu 37 19 33623177 33623177 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 33623177 33623177 C A SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known silent c.102 p.S34 0.001 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 tier1 - - 138 0 0.00 102 14 12.07 WHAMMP3 0 genome.wustl.edu 37 15 23198619 23198619 + RNA SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 15 23198619 23198619 T C SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 tier1 - - 177 0 0.00 132 20 13.07 WHSC1L1 0 genome.wustl.edu 37 8 38175370 38175370 + RNA SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 38175370 38175370 A G SNP WHSC1L1 ENST00000525081 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHSC1L1 HGNC ENSG00000147548 tier1 - - 30 0 0.00 28 9 24.32 WIPI1 0 genome.wustl.edu 37 17 66417879 66417879 + RNA DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 66417879 66417879 G - DEL WIPI1 ENST00000589459 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors WIPI1 HGNC ENSG00000070540 tier1 38 0 0.00 19 4 17.39 WIPI1 0 genome.wustl.edu 37 17 66425048 66425048 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 66425048 66425048 G A SNP WIPI1 ENST00000262139 human ensembl 74_37 -1 known missense c.995 p.A332V 0.050 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI1 HGNC ENSG00000070540 tier1 - - 25 0 0.00 10 18 64.29 WISP1 0 genome.wustl.edu 37 8 134232957 134232957 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 134232957 134232957 C - DEL WISP1 ENST00000250160 human ensembl 74_37 +1 known frame_shift_del c.483 p.P163fs 0.918 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 tier1 57 0 0.00 51 7 12.07 WNK2 0 genome.wustl.edu 37 9 96070769 96070769 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 96070769 96070769 C T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.6530 p.A2177V 0.001 NULL pfam_Prot_kinase_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_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 69 0 0.00 63 7 10.00 WNK2 0 genome.wustl.edu 37 9 96079878 96079878 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 96079878 96079878 C T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.6704 p.P2235L 0.995 NULL pfam_Prot_kinase_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_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 73 0 0.00 51 6 10.53 WNT1 0 genome.wustl.edu 37 12 49374348 49374348 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 49374348 49374348 G - DEL WNT1 ENST00000293549 human ensembl 74_37 +1 known frame_shift_del c.500 p.G169fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 tier1 50 0 0.00 39 7 15.22 WNT9A 0 genome.wustl.edu 37 1 228109316 228109316 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 228109316 228109316 A G SNP WNT9A ENST00000272164 human ensembl 74_37 -1 known missense c.1001 p.V334A 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 tier1 - - 93 0 0.00 40 13 24.53 WRB 0 genome.wustl.edu 37 21 40762674 40762674 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 40762674 40762674 G A SNP WRB ENST00000333781 human ensembl 74_37 +1 known silent c.153 p.A51 0.001 NULL NULL - no_errors WRB HGNC ENSG00000182093 tier1 rs142448585 - 61 0 0.00 32 15 31.91 WRN 0 genome.wustl.edu 37 8 30946428 30946428 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 30946428 30946428 T C SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.1599 p.N533 0.002 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 50 0 0.00 67 21 23.86 WRN 0 genome.wustl.edu 37 8 30977866 30977866 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 30977866 30977866 T C SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.2556 p.I852 0.998 pfam_Helicase_C,superfamily_P-loop_NTPase,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_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 71 0 0.00 67 8 10.67 WTAP 0 genome.wustl.edu 37 6 160163106 160163106 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 160163106 160163106 T - DEL WTAP ENST00000462110 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors WTAP HGNC ENSG00000146457 tier1 69 0 0.00 38 18 32.14 WWC2 0 genome.wustl.edu 37 4 184203860 184203860 + Splice_Site SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 184203860 184203860 G T SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known splice_site c.2757-1 e18-1 0.953 - - - no_errors WWC2 HGNC ENSG00000151718 tier1 - - 55 0 0.00 36 4 10.00 WWP1 0 genome.wustl.edu 37 8 87443634 87443635 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 87443634 87443635 - A INS WWP1 ENST00000265428 human ensembl 74_37 +1 known frame_shift_ins c.1389_1388 p.R465fs 1.000:1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 tier1 50 0 0.00 38 17 30.91 WWP2 0 genome.wustl.edu 37 16 69921970 69921971 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 69921970 69921971 - C INS WWP2 ENST00000356003 human ensembl 74_37 +1 known frame_shift_ins c.732_733 p.E245fs 0.900:0.891 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 tier1 83 0 0.00 61 18 22.78 XG 0 genome.wustl.edu 37 X 2670327 2670327 + Missense_Mutation SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 2670327 2670327 G C SNP XG ENST00000419513 human ensembl 74_37 +1 known missense c.12 p.W4C 0.000 NULL pfam_CD99L2 - no_errors XG HGNC ENSG00000124343 tier1 - - 247 0 0.00 87 74 45.68 XIST 0 genome.wustl.edu 37 X 73072350 73072350 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 73072350 73072350 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 146 0 0.00 74 34 31.48 XKR4 0 genome.wustl.edu 37 8 56435983 56435983 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 56435983 56435983 G A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.1150 p.A384T 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 70 0 0.00 68 36 34.62 XPA 0 genome.wustl.edu 37 9 100437634 100437634 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 100437634 100437634 T - DEL XPA ENST00000485042 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors XPA HGNC ENSG00000136936 tier1 15 0 0.00 15 6 28.57 XPA 0 genome.wustl.edu 37 9 100444701 100444701 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 100444701 100444701 C T SNP XPA ENST00000462523 human ensembl 74_37 -1 known missense c.685 p.A229T 0.001 NULL pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 tier1 - - 52 0 0.00 41 7 14.58 XPO5 0 genome.wustl.edu 37 6 43538375 43538375 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 43538375 43538375 T G SNP XPO5 ENST00000265351 human ensembl 74_37 -1 known missense c.485 p.E162A 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 tier1 - - 54 0 0.00 45 14 23.73 XPOT 0 genome.wustl.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 64812755 64812755 T - DEL XPOT ENST00000332707 human ensembl 74_37 +1 known frame_shift_del c.370 p.F126fs 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 tier1 105 0 0.00 85 26 23.42 XRCC5 0 genome.wustl.edu 37 2 216990641 216990642 + Frame_Shift_Del DEL GA GA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 216990641 216990642 GA - DEL XRCC5 ENST00000392132 human ensembl 74_37 +1 known frame_shift_del c.685_686 p.L231fs 1.000:1.000 pfam_Ku_N,smart_VWF_A pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 tier1 55 0 0.00 50 21 29.58 XXYLT1 0 genome.wustl.edu 37 3 194877218 194877218 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 194877218 194877218 C T SNP XXYLT1 ENST00000310380 human ensembl 74_37 -1 known missense c.745 p.A249T 0.905 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 tier1 - - 47 0 0.00 44 6 12.00 XYLT2 0 genome.wustl.edu 37 17 48432899 48432899 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 48432899 48432899 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.1045 p.R349W 1.000 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 tier1 - - 23 0 0.00 7 18 72.00 YBX1 0 genome.wustl.edu 37 1 43166567 43166567 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 43166567 43166567 A G SNP YBX1 ENST00000321358 human ensembl 74_37 +1 known missense c.856 p.N286D 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX1 HGNC ENSG00000065978 tier1 - - 141 0 0.00 106 15 12.40 YEATS2 0 genome.wustl.edu 37 3 183454555 183454555 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 183454555 183454555 A G SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.862 p.R288G 1.000 pfam_YEATS,pfscan_YEATS pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 tier1 - - 73 0 0.00 49 6 10.91 YES1 0 genome.wustl.edu 37 18 743079 743079 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 743079 743079 G A SNP YES1 ENST00000314574 human ensembl 74_37 -1 known missense c.899 p.T300M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 tier1 - - 67 0 0.00 49 10 16.95 YIF1A 0 genome.wustl.edu 37 11 66052316 66052316 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 11 66052316 66052316 G - DEL YIF1A ENST00000471387 human ensembl 74_37 -1 putative frame_shift_del c.334 p.L112fs 0.000 NULL pfam_Hrf1 - no_errors YIF1A HGNC ENSG00000174851 tier1 62 0 0.00 43 7 14.00 YLPM1 0 genome.wustl.edu 37 14 75277022 75277023 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 75277022 75277023 - A INS YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_ins c.5127_5128 p.R1710fs 1.000:1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 51 0 0.00 20 4 16.67 YTHDC2 0 genome.wustl.edu 37 5 112889315 112889315 + Nonsense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 112889315 112889315 T G SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known nonsense c.1896 p.Y632* 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 tier1 - - 49 0 0.00 53 5 8.62 YY1 0 genome.wustl.edu 37 14 100706003 100706003 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 100706003 100706003 G A SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.422 p.G141D 0.984 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 tier1 - - 12 0 0.00 18 5 21.74 YY1 0 genome.wustl.edu 37 14 100706005 100706005 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 100706005 100706005 G A SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.424 p.D142N 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 tier1 - - 11 0 0.00 16 6 27.27 ZACN 0 genome.wustl.edu 37 17 74077707 74077707 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 17 74077707 74077707 G - DEL ZACN ENST00000334586 human ensembl 74_37 +1 known frame_shift_del c.751 p.L253fs 0.950 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ENSG00000186919 tier1 49 0 0.00 27 10 27.03 ZBTB11 0 genome.wustl.edu 37 3 101371366 101371366 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 101371366 101371366 T A SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.2618 p.Y873F 1.000 smart_Znf_C2H2-like,pfscan_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 ZBTB11 HGNC ENSG00000066422 tier1 - - 66 0 0.00 50 14 21.88 ZBTB12 0 genome.wustl.edu 37 6 31868164 31868164 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 31868164 31868164 C - DEL ZBTB12 ENST00000375527 human ensembl 74_37 -1 known frame_shift_del c.919 p.A307fs 0.002 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 tier1 37 0 0.00 31 9 22.50 ZBTB20 0 genome.wustl.edu 37 3 114069876 114069876 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 114069876 114069876 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1049 p.R350H 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 - - 52 0 0.00 32 23 41.82 ZBTB21 0 genome.wustl.edu 37 21 43412316 43412317 + Frame_Shift_Del DEL TC TC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 21 43412316 43412317 TC - DEL ZBTB21 ENST00000310826 human ensembl 74_37 -1 known frame_shift_del c.1889_1888 p.E630fs 1.000:1.000 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 ZBTB21 HGNC ENSG00000173276 tier1 46 0 0.00 34 11 24.44 ZBTB48 0 genome.wustl.edu 37 1 6649032 6649032 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 6649032 6649032 G A SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known silent c.1827 p.R609 0.996 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 ZBTB48 HGNC ENSG00000204859 tier1 - - 60 0 0.00 48 6 11.11 ZBTB5 0 genome.wustl.edu 37 9 37441755 37441755 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 37441755 37441755 C A SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.794 p.G265V 0.020 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 ZBTB5 HGNC ENSG00000168795 35 0 0.00 32 3 8.57 ZBTB8A 0 genome.wustl.edu 37 1 33060715 33060715 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 33060715 33060715 C T SNP ZBTB8A ENST00000373510 human ensembl 74_37 +1 known missense c.884 p.A295V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB8A HGNC ENSG00000160062 tier1 - - 56 0 0.00 42 8 16.00 ZC3H13 0 genome.wustl.edu 37 13 46542966 46542967 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 46542966 46542967 - T INS ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_ins c.3713_3712 p.T1238fs 0.994:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 63 0 0.00 43 13 23.21 ZC3H18 0 genome.wustl.edu 37 16 88691141 88691141 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 88691141 88691141 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2030 p.R680fs 0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 50 0 0.00 44 14 24.14 ZC3H3 0 genome.wustl.edu 37 8 144621273 144621273 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 144621273 144621273 G A SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known silent c.264 p.A88 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 tier1 - - 92 0 0.00 89 9 9.18 ZCCHC11 0 genome.wustl.edu 37 1 52937633 52937633 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 52937633 52937633 T - DEL ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_del c.2869 p.R957fs 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 77 0 0.00 65 11 14.47 ZCCHC11 0 genome.wustl.edu 37 1 52940535 52940535 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 52940535 52940535 A G SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.2696 p.V899A 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 - - 44 0 0.00 16 16 50.00 ZCCHC4 0 genome.wustl.edu 37 4 25335610 25335610 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 4 25335610 25335610 G T SNP ZCCHC4 ENST00000302874 human ensembl 74_37 +1 known missense c.686 p.R229L 1.000 pfam_N6_adenine_Mtase-rel_euk pfam_Znf_GRF,pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZCCHC4 HGNC ENSG00000168228 tier1 - - 74 0 0.00 47 16 25.00 ZCCHC6 0 genome.wustl.edu 37 9 88932151 88932151 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 88932151 88932151 A G SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.3257 p.V1086A 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 tier1 - - 86 0 0.00 61 11 15.28 ZCCHC6 0 genome.wustl.edu 37 9 88937823 88937823 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 9 88937823 88937823 A - DEL ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known frame_shift_del c.2842 p.Y948fs 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 tier1 35 0 0.00 17 7 29.17 ZCRB1 0 genome.wustl.edu 37 12 42707711 42707711 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 42707711 42707711 C T SNP ZCRB1 ENST00000266529 human ensembl 74_37 -1 known silent c.411 p.K137 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors ZCRB1 HGNC ENSG00000139168 86 0 0.00 51 3 5.56 ZCWPW1 0 genome.wustl.edu 37 7 100016812 100016812 + Nonsense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 100016812 100016812 C A SNP ZCWPW1 ENST00000398027 human ensembl 74_37 -1 known nonsense c.283 p.E95* 0.995 NULL pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 tier1 - - 45 0 0.00 44 12 21.43 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 25 0 0.00 32 5 13.51 ZDHHC11B 0 genome.wustl.edu 37 5 756154 756154 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 5 756154 756154 T C SNP ZDHHC11B ENST00000382776 human ensembl 74_37 -1 known missense c.328 p.M110V 0.012 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 46 0 0.00 11 6 35.29 ZDHHC8 0 genome.wustl.edu 37 22 20132832 20132833 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 20132832 20132833 - C INS ZDHHC8 ENST00000334554 human ensembl 74_37 +1 known frame_shift_ins c.2207_2208 p.G739fs 1.000:1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 tier1 33 0 0.00 28 11 28.21 ZFAND4 0 genome.wustl.edu 37 10 46121407 46121409 + In_Frame_Del DEL CTC CTC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 46121407 46121409 CTC - DEL ZFAND4 ENST00000344646 human ensembl 74_37 -1 known in_frame_del c.1864_1862 p.G621in_frame_del 0.020:0.001:0.690 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 tier1 47 0 0.00 35 9 20.45 ZFAND4 0 genome.wustl.edu 37 10 46143826 46143826 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 46143826 46143826 C T SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.485 p.G162D 1.000 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 tier1 - - 53 0 0.00 37 11 22.92 ZFHX2 0 genome.wustl.edu 37 14 24004094 24004094 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 24004094 24004094 C T SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known silent c.441 p.A147 0.063 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 - - 39 0 0.00 25 4 13.79 ZFP36L1 0 genome.wustl.edu 37 14 69262957 69262957 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 69262957 69262957 G - DEL ZFP36L1 ENST00000408913 human ensembl 74_37 -1 known frame_shift_del c.55 p.A20fs 0.000 NULL NULL - no_errors ZFP36L1 HGNC ENSG00000185650 tier1 35 0 0.00 28 10 26.32 ZFYVE1 0 genome.wustl.edu 37 14 73442396 73442396 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 73442396 73442396 C T SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known missense c.1669 p.A557T 1.000 superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt_N_dom pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 tier1 - - 35 0 0.00 34 4 10.53 ZFYVE26 0 genome.wustl.edu 37 14 68229514 68229514 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 14 68229514 68229514 G A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known silent c.6034 p.L2012 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 30 0 0.00 21 2 8.70 ZHX1 0 genome.wustl.edu 37 8 124266180 124266180 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 124266180 124266180 A G SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known silent c.2007 p.P669 0.001 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 tier1 - - 44 0 0.00 56 4 6.67 ZHX2 0 genome.wustl.edu 37 8 123963925 123963925 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 123963925 123963925 G A SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known missense c.175 p.E59K 0.903 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 tier1 - - 36 0 0.00 34 12 26.09 ZKSCAN5 0 genome.wustl.edu 37 7 99103706 99103706 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 99103706 99103706 C - DEL ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known frame_shift_del c.39 p.P15fs 0.980 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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 ZKSCAN5 HGNC ENSG00000196652 tier1 50 0 0.00 36 8 18.18 ZMAT1 0 genome.wustl.edu 37 X 101138439 101138440 + RNA DEL TT TT - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 101138439 101138440 TT - DEL ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 tier1 33 0 0.00 19 5 20.83 ZMIZ1 0 genome.wustl.edu 37 10 80968093 80968093 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 80968093 80968093 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.61 p.H21Y 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 tier1 - - 32 0 0.00 25 4 13.79 ZMPSTE24 0 genome.wustl.edu 37 1 40756543 40756543 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 40756543 40756543 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.1077 p.L362fs 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 tier1 60 0 0.00 46 11 19.30 ZMYM2 0 genome.wustl.edu 37 13 20657094 20657094 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 13 20657094 20657094 A - DEL ZMYM2 ENST00000382869 human ensembl 74_37 +1 known frame_shift_del c.3742 p.N1250fs 1.000 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 tier1 46 0 0.00 34 16 32.00 ZMYM3 0 genome.wustl.edu 37 X 70470303 70470303 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 X 70470303 70470303 T - DEL ZMYM3 ENST00000373988 human ensembl 74_37 -1 known frame_shift_del c.1058 p.K353fs 1.000 pfam_Znf_MYM pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 94 0 0.00 32 25 43.86 ZNF12 0 genome.wustl.edu 37 7 6731613 6731614 + Frame_Shift_Del DEL TG TG - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 6731613 6731614 TG - DEL ZNF12 ENST00000405858 human ensembl 74_37 -1 known frame_shift_del c.960_959 p.T320fs 0.989:0.997 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 ZNF12 HGNC ENSG00000164631 tier1 67 0 0.00 61 8 11.59 ZNF137P 0 genome.wustl.edu 37 19 53091853 53091853 + RNA SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 53091853 53091853 C T SNP ZNF137P ENST00000597158 human ensembl 74_37 +1 known rna NULL NULL 0.101 - - - no_errors ZNF137P HGNC ENSG00000123870 tier1 - - 14 0 0.00 16 10 38.46 ZNF142 0 genome.wustl.edu 37 2 219508084 219508084 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 219508084 219508084 C - DEL ZNF142 ENST00000411696 human ensembl 74_37 -1 known frame_shift_del c.3155 p.G1052fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 tier1 60 0 0.00 39 9 18.75 ZNF208 0 genome.wustl.edu 37 19 22156673 22156673 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 22156673 22156673 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1163 p.K388R 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 63 0 0.00 44 10 18.52 ZNF223 0 genome.wustl.edu 37 19 44571252 44571253 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 44571252 44571253 - A INS ZNF223 ENST00000591793 human ensembl 74_37 +1 known frame_shift_ins c.1601_1602 p.P537fs 0.000:0.000 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 tier1 38 0 0.00 26 7 21.21 ZNF23 0 genome.wustl.edu 37 16 71482629 71482629 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 71482629 71482629 G A SNP ZNF23 ENST00000357254 human ensembl 74_37 -1 known silent c.1299 p.S433 0.001 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 ZNF23 HGNC ENSG00000167377 tier1 - - 77 0 0.00 50 26 34.21 ZNF236 0 genome.wustl.edu 37 18 74583780 74583780 + Silent SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 74583780 74583780 A C SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.660 p.T220 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 38 0 0.00 32 5 13.51 ZNF251 0 genome.wustl.edu 37 8 145947906 145947906 + Missense_Mutation SNP T T A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 145947906 145947906 T A SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.1139 p.N380I 0.004 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 ZNF251 HGNC ENSG00000198169 tier1 - - 33 0 0.00 32 25 43.86 ZNF268 0 genome.wustl.edu 37 12 133780995 133780995 + Missense_Mutation SNP G G C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 133780995 133780995 G C SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.2723 p.S908T 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 ZNF268 HGNC ENSG00000090612 tier1 - - 33 0 0.00 18 3 14.29 ZNF271 0 genome.wustl.edu 37 18 32888075 32888078 + RNA DEL AAAA AAAA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 32888075 32888078 AAAA - DEL ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.019:0.042:0.052:0.054 - - - no_errors ZNF271 HGNC ENSG00000257267 tier1 73 0 0.00 55 9 14.06 ZNF277 0 genome.wustl.edu 37 7 111967771 111967771 + Splice_Site SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 111967771 111967771 G T SNP ZNF277 ENST00000361822 human ensembl 74_37 +1 known splice_site c.558-1 e6-1 1.000 - - - no_errors ZNF277 HGNC ENSG00000198839 tier1 - - 47 0 0.00 40 8 16.67 ZNF280B 0 genome.wustl.edu 37 22 22842653 22842653 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 22 22842653 22842653 C T SNP ZNF280B ENST00000360412 human ensembl 74_37 -1 known silent c.1071 p.Q357 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 tier1 - - 81 0 0.00 69 11 13.75 ZNF282 0 genome.wustl.edu 37 7 148895518 148895518 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 148895518 148895518 C T SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known nonsense c.259 p.R87* 0.983 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 tier1 - - 42 0 0.00 34 11 24.44 ZNF292 0 genome.wustl.edu 37 6 87966811 87966812 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 87966811 87966812 0 T INS ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_ins c.3464_3465 p.L1157fs 0.998:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 44 0 0.00 34 7 17.07 ZNF320 0 genome.wustl.edu 37 19 53391430 53391430 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 53391430 53391430 G A SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.92 p.T31I 0.005 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 ZNF320 HGNC ENSG00000182986 tier1 - - 88 0 0.00 63 16 20.25 ZNF326 0 genome.wustl.edu 37 1 90484280 90484280 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 90484280 90484280 C T SNP ZNF326 ENST00000340281 human ensembl 74_37 +1 known missense c.1111 p.R371C 1.000 pfam_AKAP95 pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 tier1 - - 45 0 0.00 38 17 30.91 ZNF335 0 genome.wustl.edu 37 20 44588005 44588005 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 44588005 44588005 G A SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known silent c.2088 p.H696 0.990 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 tier1 - - 54 0 0.00 28 14 33.33 ZNF34 0 genome.wustl.edu 37 8 145999587 145999587 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 145999587 145999587 T - DEL ZNF34 ENST00000343459 human ensembl 74_37 -1 known frame_shift_del c.747 p.K249fs 0.001 NULL 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 tier1 70 0 0.00 63 15 19.23 ZNF384 0 genome.wustl.edu 37 12 6788170 6788170 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 6788170 6788170 C T SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known silent c.246 p.A82 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 21 0 0.00 36 2 5.26 ZNF407 0 genome.wustl.edu 37 18 72589289 72589289 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 72589289 72589289 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.5014 p.A1672T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 34 0 0.00 23 17 42.50 ZNF407 0 genome.wustl.edu 37 18 72632566 72632566 + Silent SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 18 72632566 72632566 C A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known silent c.5346 p.T1782 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 44 0 0.00 29 4 12.12 ZNF416 0 genome.wustl.edu 37 19 58083744 58083744 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 58083744 58083744 C T SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.1528 p.V510I 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 ZNF416 HGNC ENSG00000083817 tier1 rs147696919 - 86 0 0.00 50 21 29.58 ZNF423 0 genome.wustl.edu 37 16 49669799 49669799 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 49669799 49669799 G T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.3264 p.P1088 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 53 0 0.00 70 7 9.09 ZNF467 0 genome.wustl.edu 37 7 149462116 149462116 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 149462116 149462116 C T SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.1475 p.C492Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 tier1 - - 46 0 0.00 11 5 31.25 ZNF469 0 genome.wustl.edu 37 16 88498417 88498417 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 88498417 88498417 C T SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known silent c.4455 p.S1485 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 31 0 0.00 19 7 26.92 ZNF470 0 genome.wustl.edu 37 19 57089372 57089372 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 57089372 57089372 G A SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known silent c.1575 p.A525 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 ZNF470 HGNC ENSG00000197016 tier1 rs139141662 - 48 0 0.00 43 12 21.82 ZNF471 0 genome.wustl.edu 37 19 57035710 57035710 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 57035710 57035710 G A SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.274 p.V92M 0.074 NULL 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 ZNF471 HGNC ENSG00000196263 tier1 - - 100 0 0.00 53 29 35.37 ZNF485 0 genome.wustl.edu 37 10 44111987 44111987 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 44111987 44111987 G A SNP ZNF485 ENST00000361807 human ensembl 74_37 +1 known missense c.496 p.A166T 0.008 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 ZNF485 HGNC ENSG00000198298 tier1 - - 52 0 0.00 39 5 11.36 ZNF492 0 genome.wustl.edu 37 19 22846645 22846646 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 22846645 22846646 - A INS ZNF492 ENST00000456783 human ensembl 74_37 +1 known frame_shift_ins c.174_175 p.N60fs 0.000:0.001 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 tier1 66 0 0.00 40 4 9.09 ZNF497 0 genome.wustl.edu 37 19 58867645 58867645 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 58867645 58867645 G A SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known missense c.1357 p.R453C 0.047 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 tier1 - - 18 0 0.00 14 6 30.00 ZNF500 0 genome.wustl.edu 37 16 4812297 4812297 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 4812297 4812297 G A SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known missense c.638 p.S213L 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 tier1 - - 58 0 0.00 35 15 29.41 ZNF507 0 genome.wustl.edu 37 19 32844630 32844630 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 32844630 32844630 G A SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known silent c.894 p.A298 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 tier1 - - 43 0 0.00 26 5 15.62 ZNF511 0 genome.wustl.edu 37 10 135165862 135165862 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 135165862 135165862 G T SNP ZNF511 ENST00000368554 human ensembl 74_37 +1 known missense c.851 p.R284M 0.000 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 tier1 - - 27 0 0.00 22 7 24.14 ZNF518A 0 genome.wustl.edu 37 10 97916214 97916214 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 97916214 97916214 A - DEL ZNF518A ENST00000478086 human ensembl 74_37 +1 known rna NULL NULL 0.143 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 83 0 0.00 54 7 11.48 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 22 0 0.00 17 12 41.38 ZNF530 0 genome.wustl.edu 37 19 58117515 58117515 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 58117515 58117515 C T SNP ZNF530 ENST00000332854 human ensembl 74_37 +1 known nonsense c.622 p.R208* 0.000 NULL 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 ZNF530 HGNC ENSG00000183647 tier1 - - 30 0 0.00 39 8 17.02 ZNF536 0 genome.wustl.edu 37 19 30934476 30934477 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 30934476 30934477 - A INS ZNF536 ENST00000355537 human ensembl 74_37 +1 known frame_shift_ins c.7_8 p.A4fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 58 0 0.00 25 10 28.57 ZNF541 0 genome.wustl.edu 37 19 48041514 48041514 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 48041514 48041514 G - DEL ZNF541 ENST00000314121 human ensembl 74_37 -1 known frame_shift_del c.3036 p.Y1013fs 0.894 NULL 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 tier1 26 0 0.00 26 5 16.13 ZNF554 0 genome.wustl.edu 37 19 2834366 2834366 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 2834366 2834366 A G SNP ZNF554 ENST00000317243 human ensembl 74_37 +1 known missense c.1133 p.K378R 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 ZNF554 HGNC ENSG00000172006 tier1 - - 53 0 0.00 29 11 27.50 ZNF586 0 genome.wustl.edu 37 19 58291095 58291095 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 58291095 58291095 A G SNP ZNF586 ENST00000396154 human ensembl 74_37 +1 known silent c.1140 p.K380 0.881 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 ZNF586 HGNC ENSG00000083828 tier1 - - 43 0 0.00 44 8 15.38 ZNF607 0 genome.wustl.edu 37 19 38189877 38189877 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 38189877 38189877 A G SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known silent c.1155 p.G385 0.968 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 tier1 - - 58 0 0.00 45 8 15.09 ZNF615 0 genome.wustl.edu 37 19 52505112 52505112 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 52505112 52505112 T G SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.192 p.E64D 0.022 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 ZNF615 HGNC ENSG00000197619 tier1 - - 82 0 0.00 69 10 12.66 ZNF646 0 genome.wustl.edu 37 16 31090803 31090803 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 31090803 31090803 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.3158 p.R1053H 0.216 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 rs140829625 - 38 0 0.00 31 11 26.19 ZNF648 0 genome.wustl.edu 37 1 182025992 182025992 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 182025992 182025992 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.1154 p.T385M 0.985 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 tier1 - - 19 0 0.00 16 6 27.27 ZNF663P 0 genome.wustl.edu 37 20 45085292 45085292 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 20 45085292 45085292 T - DEL ZNF663P ENST00000400371 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF663P HGNC ENSG00000215452 tier1 49 0 0.00 34 18 34.62 ZNF668 0 genome.wustl.edu 37 16 31072399 31072399 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 31072399 31072399 C A SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known missense c.1919 p.G640V 0.816 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 tier1 - - 103 0 0.00 86 13 13.00 ZNF671 0 genome.wustl.edu 37 19 58238904 58238904 + RNA SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 58238904 58238904 G A SNP ZNF671 ENST00000594803 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF671 HGNC ENSG00000083814 tier1 - - 91 0 0.00 75 13 14.77 ZNF687 0 genome.wustl.edu 37 1 151261173 151261173 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 151261173 151261173 T C SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known missense c.2285 p.V762A 0.966 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 tier1 - - 63 0 0.00 35 15 30.00 ZNF687 0 genome.wustl.edu 37 1 151262391 151262391 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 151262391 151262391 G - DEL ZNF687 ENST00000324048 human ensembl 74_37 +1 known frame_shift_del c.2872 p.P960fs 0.884 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 tier1 102 0 0.00 71 22 23.66 ZNF689 0 genome.wustl.edu 37 16 30615890 30615890 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 16 30615890 30615890 G T SNP ZNF689 ENST00000287461 human ensembl 74_37 -1 known missense c.1198 p.L400M 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 ZNF689 HGNC ENSG00000156853 tier1 - - 41 0 0.00 34 9 20.45 ZNF695 0 genome.wustl.edu 37 1 247163304 247163304 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 1 247163304 247163304 G A SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.76 p.R26W 0.691 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 ZNF695 HGNC ENSG00000197472 tier1 - - 87 0 0.00 62 16 20.51 ZNF703 0 genome.wustl.edu 37 8 37554830 37554830 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 37554830 37554830 C T SNP ZNF703 ENST00000331569 human ensembl 74_37 +1 known silent c.411 p.A137 0.378 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF703 HGNC ENSG00000183779 tier1 - - 24 0 0.00 15 6 28.57 ZNF704 0 genome.wustl.edu 37 8 81550825 81550826 + RNA DEL AA AA - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 8 81550825 81550826 AA - DEL ZNF704 ENST00000517379 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors ZNF704 HGNC ENSG00000164684 tier1 36 0 0.00 31 18 36.73 ZNF705A 0 genome.wustl.edu 37 12 8327007 8327007 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 12 8327007 8327007 G A SNP ZNF705A ENST00000359286 human ensembl 74_37 +1 known missense c.98 p.R33K 0.866 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705A HGNC ENSG00000196946 tier1 - - 125 0 0.00 78 9 10.34 ZNF714 0 genome.wustl.edu 37 19 21300892 21300892 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 21300892 21300892 T C SNP ZNF714 ENST00000596143 human ensembl 74_37 +1 known silent c.1422 p.H474 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 tier1 - - 48 0 0.00 22 17 43.59 ZNF717 0 genome.wustl.edu 37 3 75786865 75786865 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 75786865 75786865 G A SNP ZNF717 ENST00000422325 human ensembl 74_37 -1 known missense c.1909 p.H637Y 0.876 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 ZNF717 HGNC ENSG00000227124 tier1 - - 77 0 0.00 64 8 11.11 ZNF730 0 genome.wustl.edu 37 19 23316942 23316942 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 23316942 23316942 G A SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.64 p.D22N 0.022 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 ZNF730 HGNC ENSG00000183850 tier1 - - 115 0 0.00 86 22 20.37 ZNF746 0 genome.wustl.edu 37 7 149171653 149171653 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 7 149171653 149171653 C T SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known missense c.1760 p.R587H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 tier1 - - 44 0 0.00 35 8 18.60 ZNF76 0 genome.wustl.edu 37 6 35259168 35259168 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 35259168 35259168 C T SNP ZNF76 ENST00000373953 human ensembl 74_37 +1 known missense c.739 p.R247C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 tier1 - - 28 0 0.00 19 9 32.14 ZNF773 0 genome.wustl.edu 37 19 58018683 58018683 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 58018683 58018683 G T SNP ZNF773 ENST00000282292 human ensembl 74_37 +1 known missense c.1220 p.R407M 0.989 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 ZNF773 HGNC ENSG00000152439 tier1 - - 109 0 0.00 93 9 8.82 ZNF813 0 genome.wustl.edu 37 19 53994005 53994005 + Silent SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 53994005 53994005 A G SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known silent c.519 p.S173 0.009 NULL 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 ZNF813 HGNC ENSG00000198346 tier1 - - 110 0 0.00 82 16 16.33 ZNF85 0 genome.wustl.edu 37 19 21131730 21131730 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 21131730 21131730 G A SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.410 p.C137Y 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 tier1 - - 55 0 0.00 39 9 18.75 ZNF880 0 genome.wustl.edu 37 19 52888438 52888438 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 52888438 52888438 A - DEL ZNF880 ENST00000422689 human ensembl 74_37 +1 known frame_shift_del c.1605 p.K537fs 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 ZNF880 HGNC ENSG00000221923 tier1 54 0 0.00 42 6 12.50 ZNF888 0 genome.wustl.edu 37 19 53418494 53418494 + RNA SNP A A T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 53418494 53418494 A T SNP ZNF888 ENST00000454258 human ensembl 74_37 -1 known rna NULL NULL 0.107 - - - no_errors ZNF888 HGNC ENSG00000213793 tier1 - - 180 0 0.00 151 27 15.17 ZNRD1 0 genome.wustl.edu 37 6 30030078 30030078 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 6 30030078 30030078 G A SNP ZNRD1 ENST00000332435 human ensembl 74_37 +1 known silent c.324 p.G108 0.991 pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS - no_errors ZNRD1 HGNC ENSG00000066379 tier1 - - 45 0 0.00 65 5 7.04 ZRANB1 0 genome.wustl.edu 37 10 126670253 126670253 + RNA DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 126670253 126670253 T - DEL ZRANB1 ENST00000471421 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors ZRANB1 HGNC ENSG00000019995 tier1 50 0 0.00 35 5 12.50 ZRANB3 0 genome.wustl.edu 37 2 135985510 135985510 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 135985510 135985510 T - DEL ZRANB3 ENST00000264159 human ensembl 74_37 -1 known frame_shift_del c.2030 p.K677fs 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 tier1 89 0 0.00 83 12 12.63 ZRANB3 0 genome.wustl.edu 37 2 136103154 136103154 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 2 136103154 136103154 C T SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known missense c.643 p.D215N 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 tier1 - - 43 0 0.00 39 9 18.75 ZSCAN5C 0 genome.wustl.edu 37 19 56719852 56719853 + Frame_Shift_Ins INS - - A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 19 56719852 56719853 0 A INS ZSCAN5C ENST00000376267 human ensembl 74_37 +1 known frame_shift_ins c.774_775 p.Q258fs 0.007:0.010 NULL 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 ZSCAN5C HGNC ENSG00000204532 85 0 0.00 49 15 23.44 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560547 + RNA DEL CC CC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 10 75560546 75560547 CC - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749:0.797 - - - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 107 0 0.00 98 39 28.47 ZXDC 0 genome.wustl.edu 37 3 126185160 126185160 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 04c9b5fa-4d01-4dd3-ae7f-b522a777bab5 947478b1-8569-4340-8891-abc84e887f22 3 126185160 126185160 C T SNP ZXDC ENST00000389709 human ensembl 74_37 -1 known missense c.1279 p.A427T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC ENSG00000070476 tier1 - - 49 0 0.00 26 11 29.73