Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA10 0 genome.wustl.edu 37 17 67186589 67186589 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 67186589 67186589 C T SNP ABCA10 ENST00000269081 human ensembl 69_37n -1 known missense c.2041 p.D681N 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 103 0 0.00 88 12 12.00 - - - ABCA10 0 genome.wustl.edu 37 17 67189676 67189676 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 67189676 67189676 C G SNP ABCA10 ENST00000269081 human ensembl 69_37n -1 known missense c.1599 p.K533N 0.997 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 131 0 0.00 95 35 26.72 - - - ABCA13 0 genome.wustl.edu 37 7 48237925 48237925 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 48237925 48237925 C T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known silent c.255 p.F85 0.024 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 77 0 0.00 50 6 10.53 - - - ABCA5 0 genome.wustl.edu 37 17 67293342 67293342 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 67293342 67293342 C T SNP ABCA5 ENST00000392677 human ensembl 69_37n -1 known missense c.1426 p.E476K 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 74 0 0.00 53 14 20.90 - - - ABCA6 0 genome.wustl.edu 37 17 67083529 67083529 + Missense_Mutation SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 67083529 67083529 T G SNP ABCA6 ENST00000284425 human ensembl 69_37n -1 known missense c.3784 p.T1262P 0.985 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 273 0 0.00 197 33 14.29 - - - ABCC12 0 genome.wustl.edu 37 16 48174608 48174608 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 48174608 48174608 G C SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.647 p.S216C 0.994 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 19 0 0.00 11 6 35.29 - - - ABCG1 0 genome.wustl.edu 37 21 43716451 43716451 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 43716451 43716451 C G SNP ABCG1 ENST00000398437 human ensembl 69_37n +1 known silent c.2424 p.L808 1.000 tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 76 0 0.00 45 6 11.76 - - - ABLIM1 0 genome.wustl.edu 37 10 116225386 116225386 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 116225386 116225386 C T SNP ABLIM1 ENST00000466400 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ABLIM1 HGNC ENSG00000099204 41 0 0.00 31 18 36.73 - - - ACACA 0 genome.wustl.edu 37 17 35548174 35548174 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 35548174 35548174 G T SNP ACACA ENST00000353139 human ensembl 69_37n -1 known missense c.4459 p.L1487I 0.867 pfam_AcCoA_COase_cen 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,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,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 ACACA HGNC ENSG00000132142 95 0 0.00 41 8 16.33 - - - ACACB 0 genome.wustl.edu 37 12 109700261 109700261 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 109700261 109700261 C T SNP ACACB ENST00000338432 human ensembl 69_37n +1 known silent c.6774 p.L2258 0.000 pfam_Carboxyl_trans,pfscan_COA_CT_C 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_fold,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 42 0 0.00 34 8 19.05 - - - ACAD11 0 genome.wustl.edu 37 3 132345562 132345562 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 132345562 132345562 C T SNP ACAD11 ENST00000264990 human ensembl 69_37n -1 known missense c.1170 p.M390I 1.000 pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 115 0 0.00 89 26 22.61 - - - ACE 0 genome.wustl.edu 37 17 61570849 61570849 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 61570849 61570849 G C SNP ACE ENST00000290866 human ensembl 69_37n +1 known missense c.2965 p.E989Q 1.000 pfam_Peptidase_M2,prints_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 46 0 0.00 51 12 19.05 - - - ACPL2 0 genome.wustl.edu 37 3 140997221 140997221 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 140997221 140997221 G C SNP ACPL2 ENST00000286353 human ensembl 69_37n +1 known missense c.117 p.M39I 0.012 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 53 0 0.00 25 11 29.73 - - - ACPL2 0 genome.wustl.edu 37 3 141011696 141011696 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 141011696 141011696 C T SNP ACPL2 ENST00000286353 human ensembl 69_37n +1 known silent c.1092 p.T364 0.017 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 29 0 0.00 22 4 15.38 - - - ACSF3 0 genome.wustl.edu 37 16 89212355 89212355 + Missense_Mutation SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 89212355 89212355 T G SNP ACSF3 ENST00000317447 human ensembl 69_37n +1 known missense c.1511 p.V504G 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 83 0 0.00 36 8 17.78 - - - ACSL4 0 genome.wustl.edu 37 X 108924259 108924259 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 108924259 108924259 G A SNP ACSL4 ENST00000340800 human ensembl 69_37n -1 known missense c.746 p.S249L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 114 0 0.00 56 28 32.94 - - - ACVR1C 0 genome.wustl.edu 37 2 158412650 158412650 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 158412650 158412650 G A SNP ACVR1C ENST00000243349 human ensembl 69_37n -1 known silent c.499 p.L167 0.957 pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ENSG00000123612 125 0 0.00 74 32 30.19 - - - ADAM19 0 genome.wustl.edu 37 5 156997987 156997987 + Silent SNP T T C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 156997987 156997987 T C SNP ADAM19 ENST00000394020 human ensembl 69_37n -1 known silent c.102 p.R34 1.000 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 72 0 0.00 51 19 27.14 - - - ADAMTS13 0 genome.wustl.edu 37 9 136305542 136305542 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 136305542 136305542 G C SNP ADAMTS13 ENST00000371929 human ensembl 69_37n +1 known missense c.1864 p.E622Q 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 42 0 0.00 14 4 22.22 - - - ADAMTSL1 0 genome.wustl.edu 37 9 18622283 18622283 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 18622283 18622283 G A SNP ADAMTSL1 ENST00000327883 human ensembl 69_37n +1 known missense c.517 p.D173N 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 70 0 0.00 47 13 21.67 - - - ADAMTSL3 0 genome.wustl.edu 37 15 84539660 84539660 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 84539660 84539660 G A SNP ADAMTSL3 ENST00000286744 human ensembl 69_37n +1 known silent c.909 p.E303 0.976 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 58 0 0.00 34 11 23.91 - - - ADAMTSL3 0 genome.wustl.edu 37 15 84539697 84539697 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 84539697 84539697 G C SNP ADAMTSL3 ENST00000286744 human ensembl 69_37n +1 known missense c.946 p.D316H 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 51 0 0.00 31 14 31.11 - - - ADCK3 0 genome.wustl.edu 37 1 227152807 227152807 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 227152807 227152807 C T SNP ADCK3 ENST00000366777 human ensembl 69_37n +1 known missense c.284 p.S95L 0.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 26 0 0.00 36 5 12.20 - - - ADCY1 0 genome.wustl.edu 37 7 45701780 45701780 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 45701780 45701780 C T SNP ADCY1 ENST00000297323 human ensembl 69_37n +1 known silent c.1572 p.F524 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 46 0 0.00 22 6 21.43 - - - ADD2 0 genome.wustl.edu 37 2 70917942 70917942 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 70917942 70917942 C A SNP ADD2 ENST00000264436 human ensembl 69_37n -1 known missense c.825 p.Q275H 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 56 0 0.00 31 9 22.50 - - - ADGB 0 genome.wustl.edu 37 6 147022141 147022141 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 147022141 147022141 G A SNP ADGB ENST00000397944 human ensembl 69_37n +1 known missense c.1642 p.E548K 0.657 smart_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 114 0 0.00 91 26 22.22 - - - ADIPOR2 0 genome.wustl.edu 37 12 1890221 1890221 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 1890221 1890221 C A SNP ADIPOR2 ENST00000357103 human ensembl 69_37n +1 known missense c.817 p.Q273K 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 113 0 0.00 98 34 25.76 - - - ADORA1 0 genome.wustl.edu 37 1 203134784 203134784 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 203134784 203134784 G C SNP ADORA1 ENST00000309502 human ensembl 69_37n +1 known missense c.737 p.S246T 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adenosn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 102 0 0.00 47 15 24.19 - - - ADSS 0 genome.wustl.edu 37 1 244586160 244586160 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 244586160 244586160 C G SNP ADSS ENST00000366535 human ensembl 69_37n -1 known missense c.640 p.E214Q 1.000 pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC ENSG00000035687 182 0 0.00 176 44 20.00 - - - AFAP1L2 0 genome.wustl.edu 37 10 116055702 116055702 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 116055702 116055702 C G SNP AFAP1L2 ENST00000491814 human ensembl 69_37n -1 known rna NULL NULL 0.667 - - - no_errors AFAP1L2 HGNC ENSG00000169129 49 0 0.00 54 6 10.00 - - - AGBL4 0 genome.wustl.edu 37 1 49711501 49711501 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 49711501 49711501 G A SNP AGBL4 ENST00000371839 human ensembl 69_37n -1 known silent c.318 p.T106 1.000 NULL pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 97 0 0.00 73 22 22.92 - - - AHCYL2 0 genome.wustl.edu 37 7 129064919 129064919 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 129064919 129064919 G C SNP AHCYL2 ENST00000325006 human ensembl 69_37n +1 known missense c.1645 p.E549Q 1.000 pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 70 0 0.00 68 19 21.84 - - - AKAP10 0 genome.wustl.edu 37 17 19843048 19843048 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 19843048 19843048 C T SNP AKAP10 ENST00000225737 human ensembl 69_37n -1 known missense c.1300 p.D434N 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors AKAP10 HGNC ENSG00000108599 78 0 0.00 115 21 15.44 - - - AKAP12 0 genome.wustl.edu 37 6 151670262 151670262 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 151670262 151670262 G A SNP AKAP12 ENST00000253332 human ensembl 69_37n +1 known missense c.736 p.E246K 0.029 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 30 0 0.00 15 8 34.78 - - - AKAP12 0 genome.wustl.edu 37 6 151670277 151670277 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 151670277 151670277 G T SNP AKAP12 ENST00000253332 human ensembl 69_37n +1 known nonsense c.751 p.E251* 0.444 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 26 0 0.00 14 7 33.33 - - - AKAP13 0 genome.wustl.edu 37 15 86077099 86077099 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 86077099 86077099 C T SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known nonsense c.466 p.Q156* 0.029 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 17 0 0.00 14 7 33.33 - - - AKAP13 0 genome.wustl.edu 37 15 86207934 86207934 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 86207934 86207934 C A SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known nonsense c.4952 p.S1651* 1.000 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 52 0 0.00 37 14 27.45 - - - AKAP3 0 genome.wustl.edu 37 12 4736759 4736759 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 4736759 4736759 C T SNP AKAP3 ENST00000228850 human ensembl 69_37n -1 known missense c.1309 p.E437K 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 82 0 0.00 66 27 29.03 - - - AKR7L 0 genome.wustl.edu 37 1 19595190 19595190 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 19595190 19595190 C T SNP AKR7L ENST00000420396 human ensembl 69_37n -1 known nonsense c.176 p.W59* 1.000 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7L HGNC ENSG00000211454 36 0 0.00 18 4 18.18 - - - ALDH3A2 0 genome.wustl.edu 37 17 19576546 19576546 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 19576546 19576546 G A SNP ALDH3A2 ENST00000575384 human ensembl 69_37n +1 novel missense c.223 p.E75K 0.691 NULL NULL - no_start_codon ALDH3A2 HGNC ENSG00000072210 61 0 0.00 33 23 41.07 - - - ALDOA 0 genome.wustl.edu 37 16 30080850 30080850 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 30080850 30080850 G A SNP ALDOA ENST00000338110 human ensembl 69_37n +1 known missense c.655 p.D219N 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 61 0 0.00 29 11 26.83 - - - ALG1 0 genome.wustl.edu 37 16 5122995 5122995 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 5122995 5122995 G T SNP ALG1 ENST00000262374 human ensembl 69_37n +1 known missense c.252 p.Q84H 0.892 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 95 0 0.00 79 36 31.30 - - - ALK 0 genome.wustl.edu 37 2 29519845 29519845 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 29519845 29519845 C G SNP ALK ENST00000389048 human ensembl 69_37n -1 known missense c.1726 p.E576Q 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,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_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 117 0 0.00 39 12 23.53 - - - AMBN 0 genome.wustl.edu 37 4 71465264 71465264 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 71465264 71465264 C A SNP AMBN ENST00000322937 human ensembl 69_37n +1 known nonsense c.195 p.Y65* 0.998 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 71 0 0.00 45 16 26.23 - - - AMZ2 0 genome.wustl.edu 37 17 66246373 66246373 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 66246373 66246373 C T SNP AMZ2 ENST00000359904 human ensembl 69_37n +1 known silent c.45 p.L15 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ENSG00000196704 63 0 0.00 71 9 11.11 - - - ANK1 0 genome.wustl.edu 37 8 41530277 41530277 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 41530277 41530277 G C SNP ANK1 ENST00000396942 human ensembl 69_37n -1 known missense c.4691 p.S1564C 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 30 0 0.00 14 8 36.36 - - - ANK2 0 genome.wustl.edu 37 4 114253195 114253195 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 114253195 114253195 C T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known nonsense c.3193 p.Q1065* 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 67 0 0.00 46 6 11.54 - - - ANKFN1 0 genome.wustl.edu 37 17 54526461 54526461 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 54526461 54526461 G A SNP ANKFN1 ENST00000318698 human ensembl 69_37n +1 known missense c.1130 p.R377K 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 68 0 0.00 83 20 19.42 - - - ANKFY1 0 genome.wustl.edu 37 17 4075888 4075888 + Silent SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 4075888 4075888 C A SNP ANKFY1 ENST00000570535 human ensembl 69_37n -1 known silent c.3228 p.G1076 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 59 0 0.00 20 4 16.67 - - - ANKHD1 0 genome.wustl.edu 37 5 139864797 139864797 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 139864797 139864797 C G SNP ANKHD1 ENST00000246149 human ensembl 69_37n +1 novel missense c.446 p.S149C 0.592 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANKHD1 HGNC ENSG00000131503 71 0 0.00 32 16 33.33 - - - ANKRD17 0 genome.wustl.edu 37 4 74014745 74014745 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 74014745 74014745 C G SNP ANKRD17 ENST00000358602 human ensembl 69_37n -1 known missense c.1352 p.R451T 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_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 33 0 0.00 33 10 23.26 - - - ANKRD40 0 genome.wustl.edu 37 17 48776873 48776873 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 48776873 48776873 G A SNP ANKRD40 ENST00000285243 human ensembl 69_37n -1 known missense c.665 p.S222F 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 79 0 0.00 117 17 12.69 - - - ANKS1B 0 genome.wustl.edu 37 12 99166817 99166817 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 99166817 99166817 C T SNP ANKS1B ENST00000549315 human ensembl 69_37n -1 putative rna NULL NULL 1.000 - - - no_errors ANKS1B HGNC ENSG00000185046 61 0 0.00 53 9 14.29 - - - ANKS1B 0 genome.wustl.edu 37 12 99837459 99837459 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 99837459 99837459 G A SNP ANKS1B ENST00000329257 human ensembl 69_37n -1 known nonsense c.1567 p.R523* 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 132 0 0.00 97 43 30.71 - - - ANO4 0 genome.wustl.edu 37 12 101491639 101491639 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 101491639 101491639 G C SNP ANO4 ENST00000392977 human ensembl 69_37n +1 known missense c.1922 p.G641A 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 98 0 0.00 83 21 20.00 - - - ANO6 0 genome.wustl.edu 37 12 45803172 45803172 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 45803172 45803172 G C SNP ANO6 ENST00000425752 human ensembl 69_37n +1 known missense c.1913 p.R638T 0.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 62 0 0.00 67 9 11.84 - - - APC 0 genome.wustl.edu 37 5 112128144 112128144 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 112128144 112128144 G A SNP APC ENST00000257430 human ensembl 69_37n +1 known missense c.647 p.R216Q 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 50 0 0.00 52 11 17.46 - - - APC 0 genome.wustl.edu 37 5 112175084 112175084 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 112175084 112175084 G C SNP APC ENST00000257430 human ensembl 69_37n +1 known missense c.3793 p.E1265Q 1.000 pfam_APC_Cys-rich_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 36 0 0.00 21 12 36.36 - - - APC 0 genome.wustl.edu 37 5 112175457 112175457 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 112175457 112175457 C T SNP APC ENST00000257430 human ensembl 69_37n +1 known missense c.4166 p.S1389F 1.000 pfam_APC_Cys-rich_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 44 0 0.00 38 15 27.78 - - - APOB 0 genome.wustl.edu 37 2 21238074 21238074 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 21238074 21238074 C T SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.3567 p.M1189I 0.001 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 53 0 0.00 50 8 13.33 - - - APOL6 0 genome.wustl.edu 37 22 36054791 36054791 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 36054791 36054791 C T SNP APOL6 ENST00000409652 human ensembl 69_37n +1 known silent c.180 p.L60 0.000 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 73 0 0.00 47 23 31.94 - - - APTX 0 genome.wustl.edu 37 9 33019979 33019979 + RNA SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 33019979 33019979 G A SNP APTX ENST00000489583 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors APTX HGNC ENSG00000137074 17 0 0.00 5 4 44.44 - - - AQR 0 genome.wustl.edu 37 15 35256470 35256470 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 35256470 35256470 G A SNP AQR ENST00000156471 human ensembl 69_37n -1 known missense c.97 p.P33S 1.000 NULL NULL - no_errors AQR HGNC ENSG00000021776 60 0 0.00 35 13 27.08 - - - ARAP1 0 genome.wustl.edu 37 11 72399551 72399551 + Missense_Mutation SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 72399551 72399551 T G SNP ARAP1 ENST00000393609 human ensembl 69_37n -1 known missense c.4019 p.K1340T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 52 0 0.00 28 4 12.50 - - - ARAP2 0 genome.wustl.edu 37 4 36069753 36069753 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 36069753 36069753 G A SNP ARAP2 ENST00000303965 human ensembl 69_37n -1 known missense c.4891 p.R1631W 0.945 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 89 0 0.00 63 27 29.67 - - - ARFGEF2 0 genome.wustl.edu 37 20 47570306 47570306 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 47570306 47570306 G A SNP ARFGEF2 ENST00000371917 human ensembl 69_37n +1 known missense c.817 p.E273K 0.176 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 74 0 0.00 43 13 23.21 - - - ARGLU1 0 genome.wustl.edu 37 13 107220013 107220013 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 107220013 107220013 G A SNP ARGLU1 ENST00000400198 human ensembl 69_37n -1 known silent c.255 p.F85 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 26 0 0.00 17 6 26.09 - - - ARHGAP29 0 genome.wustl.edu 37 1 94696978 94696978 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 94696978 94696978 C T SNP ARHGAP29 ENST00000260526 human ensembl 69_37n -1 known missense c.190 p.E64K 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 82 0 0.00 47 21 30.88 - - - ARHGAP6 0 genome.wustl.edu 37 X 11272783 11272783 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 11272783 11272783 C T SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known silent c.633 p.L211 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 29 0 0.00 18 7 28.00 - - - ARHGEF10 0 genome.wustl.edu 37 8 1806219 1806219 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 1806219 1806219 G A SNP ARHGEF10 ENST00000398564 human ensembl 69_37n +1 known missense c.203 p.R68K 0.202 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 35 0 0.00 22 9 29.03 - - - ARHGEF28 0 genome.wustl.edu 37 5 73178323 73178323 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 73178323 73178323 G C SNP ARHGEF28 ENST00000545377 human ensembl 69_37n +1 known missense c.2841 p.M947I 1.000 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 29 0 0.00 28 8 22.22 - - - ARHGEF4 0 genome.wustl.edu 37 2 131801929 131801929 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 131801929 131801929 G T SNP ARHGEF4 ENST00000326016 human ensembl 69_37n +1 known nonsense c.1657 p.E553* 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 31 0 0.00 14 5 26.32 - - - ARHGEF40 0 genome.wustl.edu 37 14 21544955 21544955 + Missense_Mutation SNP A A G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 21544955 21544955 A G SNP ARHGEF40 ENST00000298694 human ensembl 69_37n +1 known missense c.1940 p.N647S 0.949 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 38 0 0.00 19 10 34.48 - - - ARID2 0 genome.wustl.edu 37 12 46240701 46240701 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 46240701 46240701 G A SNP ARID2 ENST00000334344 human ensembl 69_37n +1 known missense c.1561 p.E521K 1.000 pfam_DNA-bd_RFX pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 145 0 0.00 108 38 26.03 - - - ARID5B 0 genome.wustl.edu 37 10 63851361 63851361 + Silent SNP A A C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 63851361 63851361 A C SNP ARID5B ENST00000279873 human ensembl 69_37n +1 known silent c.2139 p.P713 0.946 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 62 0 0.00 24 7 21.88 - - - ARL10 0 genome.wustl.edu 37 5 175795857 175795857 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 175795857 175795857 G A SNP ARL10 ENST00000310389 human ensembl 69_37n +1 known missense c.433 p.E145K 0.969 pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL10 HGNC ENSG00000175414 63 0 0.00 41 15 26.32 - - - ARSG 0 genome.wustl.edu 37 17 66339821 66339821 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 66339821 66339821 C T SNP ARSG ENST00000448504 human ensembl 69_37n +1 known missense c.295 p.R99C 0.972 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 49 0 0.00 40 5 10.87 - - - ARSI 0 genome.wustl.edu 37 5 149676953 149676953 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 149676953 149676953 G A SNP ARSI ENST00000328668 human ensembl 69_37n -1 known missense c.1534 p.H512Y 1.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 62 0 0.00 42 9 17.65 - - - ARX 0 genome.wustl.edu 37 X 25028418 25028418 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 25028418 25028418 C G SNP ARX ENST00000379044 human ensembl 69_37n -1 known missense c.1078 p.E360Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_Antifreeze_1 - no_errors ARX HGNC ENSG00000004848 60 0 0.00 22 7 24.14 - - - ASB9 0 genome.wustl.edu 37 X 15262576 15262576 + RNA SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 15262576 15262576 C A SNP ASB9 ENST00000473862 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ASB9 HGNC ENSG00000102048 48 0 0.00 27 14 34.15 - - - ASCC2 0 genome.wustl.edu 37 22 30221653 30221653 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 30221653 30221653 G A SNP ASCC2 ENST00000307790 human ensembl 69_37n -1 known silent c.198 p.L66 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 62 0 0.00 37 12 24.49 - - - ASPSCR1 0 genome.wustl.edu 37 17 79966993 79966993 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 79966993 79966993 G A SNP ASPSCR1 ENST00000583503 human ensembl 69_37n +1 known missense c.455 p.R152Q 0.005 NULL pfam_TUG - no_errors ASPSCR1 HGNC ENSG00000169696 24 0 0.00 8 4 33.33 - - - ATF3 0 genome.wustl.edu 37 1 212788425 212788425 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 212788425 212788425 C G SNP ATF3 ENST00000341491 human ensembl 69_37n +1 known missense c.62 p.P21R 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors ATF3 HGNC ENSG00000162772 55 0 0.00 43 18 29.51 - - - ATG16L1 0 genome.wustl.edu 37 2 234171846 234171846 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 234171846 234171846 G C SNP ATG16L1 ENST00000392017 human ensembl 69_37n +1 known missense c.280 p.E94Q 1.000 pfam_Autophagy-rel_prot_16 pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ATG16L1 HGNC ENSG00000085978 74 0 0.00 39 16 29.09 - - - ATG16L1 0 genome.wustl.edu 37 2 234182378 234182378 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 234182378 234182378 C T SNP ATG16L1 ENST00000392017 human ensembl 69_37n +1 known missense c.806 p.S269L 1.000 NULL pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ATG16L1 HGNC ENSG00000085978 165 0 0.00 131 52 28.42 - - - ATG2B 0 genome.wustl.edu 37 14 96788996 96788996 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 96788996 96788996 C T SNP ATG2B ENST00000359933 human ensembl 69_37n -1 known missense c.2617 p.D873N 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 109 0 0.00 84 11 11.58 - - - ATP13A4 0 genome.wustl.edu 37 3 193160240 193160240 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 193160240 193160240 G A SNP ATP13A4 ENST00000428352 human ensembl 69_37n -1 known nonsense c.1177 p.Q393* 0.614 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP13A4 HGNC ENSG00000127249 108 0 0.00 75 35 31.82 - - - ATP13A5 0 genome.wustl.edu 37 3 192992930 192992930 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 192992930 192992930 G A SNP ATP13A5 ENST00000342358 human ensembl 69_37n -1 known silent c.3558 p.F1186 0.998 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ENSG00000187527 141 0 0.00 108 25 18.66 - - - ATP2B1 0 genome.wustl.edu 37 12 90036112 90036112 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 90036112 90036112 C G SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known missense c.229 p.D77H 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 72 0 0.00 74 13 14.94 - - - ATP6V1D 0 genome.wustl.edu 37 14 67810151 67810151 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 67810151 67810151 G C SNP ATP6V1D ENST00000216442 human ensembl 69_37n -1 known missense c.461 p.S154C 1.000 pfam_V_ATPase_D,tigrfam_V_ATPase_D pfam_V_ATPase_D,tigrfam_V_ATPase_D - no_errors ATP6V1D HGNC ENSG00000100554 51 0 0.00 32 12 27.27 - - - ATP6V1E2 0 genome.wustl.edu 37 2 46739730 46739730 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 46739730 46739730 C G SNP ATP6V1E2 ENST00000306448 human ensembl 69_37n -1 known missense c.121 p.E41Q 1.000 pfam_ATPase_V1/A1-cplx_esu pfam_ATPase_V1/A1-cplx_esu - no_errors ATP6V1E2 HGNC ENSG00000250565 116 0 0.00 69 33 32.35 - - - ATP6V1G3 0 genome.wustl.edu 37 1 198492671 198492671 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 198492671 198492671 G C SNP ATP6V1G3 ENST00000367381 human ensembl 69_37n -1 known silent c.225 p.L75 0.000 pfam_V-ATPase_G,tigrfam_V-ATPase_G pfam_V-ATPase_G,tigrfam_V-ATPase_G - no_errors ATP6V1G3 HGNC ENSG00000151418 146 0 0.00 155 48 23.65 - - - ATP7A 0 genome.wustl.edu 37 X 77294443 77294443 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 77294443 77294443 G C SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known missense c.3621 p.E1207D 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 93 0 0.00 54 23 29.87 - - - ATP9A 0 genome.wustl.edu 37 20 50234064 50234064 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 50234064 50234064 G A SNP ATP9A ENST00000338821 human ensembl 69_37n -1 known nonsense c.2380 p.Q794* 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ENSG00000054793 50 0 0.00 26 6 18.75 - - - AURKC 0 genome.wustl.edu 37 19 57743477 57743477 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 57743477 57743477 C T SNP AURKC ENST00000302804 human ensembl 69_37n +1 known missense c.181 p.R61W 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AURKC HGNC ENSG00000105146 39 0 0.00 34 9 20.93 - - - AVIL 0 genome.wustl.edu 37 12 58203467 58203467 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 58203467 58203467 G C SNP AVIL ENST00000257861 human ensembl 69_37n -1 known missense c.852 p.I284M 0.995 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors AVIL HGNC ENSG00000135407 155 0 0.00 125 21 14.29 - - - AXDND1 0 genome.wustl.edu 37 1 179354475 179354475 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 179354475 179354475 G C SNP AXDND1 ENST00000367618 human ensembl 69_37n +1 known missense c.844 p.E282Q 1.000 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 93 0 0.00 111 26 18.84 - - - B3GALTL 0 genome.wustl.edu 37 13 31803344 31803344 + Silent SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 31803344 31803344 C A SNP B3GALTL ENST00000343307 human ensembl 69_37n +1 known silent c.183 p.V61 1.000 NULL pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 50 0 0.00 52 13 19.70 - - - BAG4 0 genome.wustl.edu 37 8 38067752 38067752 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 38067752 38067752 C T SNP BAG4 ENST00000287322 human ensembl 69_37n +1 known missense c.1115 p.S372L 0.988 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 43 0 0.00 18 14 43.75 - - - BBS12 0 genome.wustl.edu 37 4 123664136 123664136 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 123664136 123664136 C T SNP BBS12 ENST00000314218 human ensembl 69_37n +1 known silent c.1089 p.L363 0.991 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC ENSG00000181004 66 0 0.00 57 27 31.76 - - - BBX 0 genome.wustl.edu 37 3 107492312 107492312 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 107492312 107492312 G A SNP BBX ENST00000325805 human ensembl 69_37n +1 known missense c.1744 p.D582N 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC ENSG00000114439 35 0 0.00 30 14 31.82 - - - BCAP29 0 genome.wustl.edu 37 7 107254145 107254145 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 107254145 107254145 G A SNP BCAP29 ENST00000379119 human ensembl 69_37n +1 known missense c.737 p.G246D 0.000 NULL pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 92 0 0.00 81 19 19.00 - - - BCAS1 0 genome.wustl.edu 37 20 52574003 52574003 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 52574003 52574003 C T SNP BCAS1 ENST00000395961 human ensembl 69_37n -1 known missense c.1384 p.E462K 0.989 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 154 0 0.00 128 20 13.51 - - - BICC1 0 genome.wustl.edu 37 10 60553331 60553331 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 60553331 60553331 G A SNP BICC1 ENST00000373886 human ensembl 69_37n +1 known missense c.1135 p.D379N 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 93 0 0.00 111 17 13.28 - - - BIVM 0 genome.wustl.edu 37 13 103459616 103459616 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 103459616 103459616 C T SNP BIVM ENST00000481069 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors BIVM HGNC ENSG00000134897 28 0 0.00 26 12 30.77 - - - BPIFB3 0 genome.wustl.edu 37 20 31644491 31644491 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 31644491 31644491 G A SNP BPIFB3 ENST00000375494 human ensembl 69_37n +1 known missense c.268 p.E90K 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N 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 BPIFB3 HGNC ENSG00000186190 106 0 0.00 84 18 17.65 - - - BPTF 0 genome.wustl.edu 37 17 65850193 65850193 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 65850193 65850193 G A SNP BPTF ENST00000321892 human ensembl 69_37n +1 known missense c.751 p.E251K 1.000 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 110 0 0.00 157 28 15.14 - - - BRCA2 0 genome.wustl.edu 37 13 32915015 32915015 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 32915015 32915015 G C SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known missense c.6523 p.E2175Q 0.001 pirsf_DNA_recomb/repair_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 40 0 0.00 31 12 27.91 - - - BRWD1 0 genome.wustl.edu 37 21 40570906 40570906 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 40570906 40570906 G C SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known missense c.5436 p.F1812L 0.005 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 89 0 0.00 58 15 20.55 - - - BSN 0 genome.wustl.edu 37 3 49693239 49693239 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 49693239 49693239 G T SNP BSN ENST00000296452 human ensembl 69_37n +1 known nonsense c.6250 p.E2084* 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 24 0 0.00 13 3 18.75 - - - BST1 0 genome.wustl.edu 37 4 15720590 15720590 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 15720590 15720590 C G SNP BST1 ENST00000265016 human ensembl 69_37n +1 known missense c.765 p.F255L 1.000 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 93 0 0.00 77 15 16.30 - - - BTRC 0 genome.wustl.edu 37 10 103285793 103285793 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 103285793 103285793 G C SNP BTRC ENST00000370187 human ensembl 69_37n +1 known missense c.580 p.E194Q 1.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 66 0 0.00 57 23 28.75 - - - C10orf12 0 genome.wustl.edu 37 10 98741670 98741670 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 98741670 98741670 G C SNP C10orf12 ENST00000286067 human ensembl 69_37n +1 known missense c.523 p.E175Q 1.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 29 0 0.00 35 9 20.45 - - - C10orf137 0 genome.wustl.edu 37 10 127412419 127412419 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 127412419 127412419 C T SNP C10orf137 ENST00000356792 human ensembl 69_37n +1 known missense c.424 p.H142Y 0.996 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 63 0 0.00 43 12 21.82 - - - C11orf48 0 genome.wustl.edu 37 11 62437402 62437402 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 62437402 62437402 G C SNP C11orf48 ENST00000431002 human ensembl 69_37n -1 known silent c.102 p.L34 0.000 NULL NULL - no_errors C11orf48 HGNC ENSG00000162194 114 0 0.00 40 33 45.21 - - - C11orf63 0 genome.wustl.edu 37 11 122756560 122756560 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 122756560 122756560 G C SNP C11orf63 ENST00000227349 human ensembl 69_37n +1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 36 0 0.00 13 10 41.67 - - - C14orf93 0 genome.wustl.edu 37 14 23457139 23457139 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 23457139 23457139 C G SNP C14orf93 ENST00000299088 human ensembl 69_37n -1 known missense c.1170 p.E390D 1.000 NULL NULL - no_errors C14orf93 HGNC ENSG00000100802 71 0 0.00 44 11 20.00 - - - C15orf40 0 genome.wustl.edu 37 15 83677321 83677321 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 83677321 83677321 C A SNP C15orf40 ENST00000451195 human ensembl 69_37n -1 known missense c.345 p.K115N 1.000 pfam_DUF167,superfamily_DUF167 pfam_DUF167,superfamily_DUF167 - no_errors C15orf40 HGNC ENSG00000169609 43 0 0.00 24 14 36.84 - - - C15orf53 0 genome.wustl.edu 37 15 38990571 38990571 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 38990571 38990571 C T SNP C15orf53 ENST00000318792 human ensembl 69_37n +1 known missense c.365 p.S122F 0.005 NULL NULL - no_errors C15orf53 HGNC ENSG00000175779 44 0 0.00 23 7 22.58 - - - C19orf45 0 genome.wustl.edu 37 19 7570273 7570273 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 7570273 7570273 C T SNP C19orf45 ENST00000361664 human ensembl 69_37n +1 known silent c.846 p.L282 0.244 NULL NULL - no_errors C19orf45 HGNC ENSG00000198723 29 0 0.00 14 9 37.50 - - - C1GALT1 0 genome.wustl.edu 37 7 7283329 7283329 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 7283329 7283329 G C SNP C1GALT1 ENST00000223122 human ensembl 69_37n +1 known missense c.1063 p.D355H 0.995 NULL pfam_Fringe-like,pfam_Glyco_trans_31 - no_errors C1GALT1 HGNC ENSG00000106392 50 0 0.00 52 10 16.13 - - - C1RL 0 genome.wustl.edu 37 12 7249361 7249361 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 7249361 7249361 C T SNP C1RL ENST00000266542 human ensembl 69_37n -1 known missense c.1090 p.E364K 0.028 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 34 0 0.00 19 12 38.71 - - - C1orf129 0 genome.wustl.edu 37 1 170994466 170994466 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 170994466 170994466 C T SNP C1orf129 ENST00000367759 human ensembl 69_37n +1 known missense c.2186 p.S729F 0.001 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf129 HGNC ENSG00000117501 116 0 0.00 130 23 15.03 - - - C1orf131 0 genome.wustl.edu 37 1 231376866 231376866 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 231376866 231376866 C T SNP C1orf131 ENST00000366649 human ensembl 69_37n -1 known missense c.22 p.D8N 0.002 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 26 0 0.00 23 8 25.81 - - - C1orf198 0 genome.wustl.edu 37 1 230979431 230979431 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 230979431 230979431 C T SNP C1orf198 ENST00000366663 human ensembl 69_37n -1 known missense c.596 p.R199Q 1.000 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 36 0 0.00 36 10 21.74 - - - C1orf216 0 genome.wustl.edu 37 1 36181601 36181601 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 36181601 36181601 G A SNP C1orf216 ENST00000270815 human ensembl 69_37n -1 known silent c.322 p.L108 0.815 NULL NULL - no_errors C1orf216 HGNC ENSG00000142686 26 0 0.00 19 12 38.71 - - - C20orf132 0 genome.wustl.edu 37 20 35731097 35731097 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 35731097 35731097 G C SNP C20orf132 ENST00000400441 human ensembl 69_37n -1 known missense c.3122 p.S1041C 0.003 NULL superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 89 0 0.00 68 15 18.07 - - - C20orf132 0 genome.wustl.edu 37 20 35731195 35731195 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 35731195 35731195 G T SNP C20orf132 ENST00000343811 human ensembl 69_37n -1 known nonsense c.3104 p.S1035* 0.972 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C20orf132 HGNC ENSG00000101353 71 0 0.00 52 7 11.86 - - - C5orf63 0 genome.wustl.edu 37 5 126383590 126383590 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 126383590 126383590 C T SNP C5orf63 ENST00000535381 human ensembl 69_37n -1 known silent c.189 p.Q63 0.011 NULL pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold - no_errors C5orf63 HGNC ENSG00000164241 128 0 0.00 61 25 29.07 - - - C7 0 genome.wustl.edu 37 5 40981496 40981496 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 40981496 40981496 G A SNP C7 ENST00000313164 human ensembl 69_37n +1 known missense c.2353 p.E785K 0.370 smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 54 0 0.00 41 9 18.00 - - - C7orf31 0 genome.wustl.edu 37 7 25175643 25175643 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 25175643 25175643 G C SNP C7orf31 ENST00000283905 human ensembl 69_37n -1 known missense c.1721 p.S574W 0.001 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 63 0 0.00 62 15 19.48 - - - C8orf47 0 genome.wustl.edu 37 8 99101660 99101660 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 99101660 99101660 G A SNP C8orf47 ENST00000318528 human ensembl 69_37n +1 known missense c.415 p.E139K 0.009 NULL NULL - no_errors C8orf47 HGNC ENSG00000177459 31 0 0.00 21 4 15.38 - - - C9orf84 0 genome.wustl.edu 37 9 114454003 114454003 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 114454003 114454003 G C SNP C9orf84 ENST00000318737 human ensembl 69_37n -1 known missense c.4062 p.F1354L 0.004 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 66 0 0.00 60 20 24.69 - - - C9orf84 0 genome.wustl.edu 37 9 114454075 114454075 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 114454075 114454075 G A SNP C9orf84 ENST00000318737 human ensembl 69_37n -1 known silent c.3990 p.F1330 0.065 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 65 0 0.00 49 15 23.44 - - - C9orf84 0 genome.wustl.edu 37 9 114454484 114454484 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 114454484 114454484 G C SNP C9orf84 ENST00000318737 human ensembl 69_37n -1 known missense c.3581 p.S1194C 0.006 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 60 0 0.00 62 10 13.89 - - - CA5B 0 genome.wustl.edu 37 X 15793409 15793409 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 15793409 15793409 C A SNP CA5B ENST00000318636 human ensembl 69_37n +1 known missense c.596 p.T199N 0.766 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 CA5B HGNC ENSG00000169239 136 0 0.00 74 10 11.90 - - - CABLES1 0 genome.wustl.edu 37 18 20817196 20817196 + Missense_Mutation SNP T T C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 20817196 20817196 T C SNP CABLES1 ENST00000256925 human ensembl 69_37n +1 known missense c.1433 p.F478S 1.000 superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES1 HGNC ENSG00000134508 101 0 0.00 76 16 17.20 - - - CACNA1E 0 genome.wustl.edu 37 1 181721316 181721316 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 181721316 181721316 C G SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.3769 p.L1257V 0.983 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 50 0 0.00 53 15 22.06 - - - CADM1 0 genome.wustl.edu 37 11 115109292 115109292 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 115109292 115109292 C G SNP CADM1 ENST00000452722 human ensembl 69_37n -1 known missense c.352 p.D118H 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM1 HGNC ENSG00000182985 67 0 0.00 71 9 11.25 - - - CALM2 0 genome.wustl.edu 37 2 47389797 47389797 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 47389797 47389797 G C SNP CALM2 ENST00000272298 human ensembl 69_37n -1 known missense c.39 p.F13L 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors CALM2 HGNC ENSG00000143933 80 0 0.00 80 16 16.49 - - - CALR3 0 genome.wustl.edu 37 19 16593368 16593368 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 16593368 16593368 G A SNP CALR3 ENST00000269881 human ensembl 69_37n -1 known missense c.811 p.H271Y 0.004 pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,pirsf_Calreticulin,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000141979 73 0 0.00 56 10 15.15 - - - CAND1 0 genome.wustl.edu 37 12 67691236 67691236 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 67691236 67691236 C T SNP CAND1 ENST00000299218 human ensembl 69_37n +1 known missense c.541 p.L181F 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 75 0 0.00 72 20 21.74 - - - CARD11 0 genome.wustl.edu 37 7 2987384 2987384 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 2987384 2987384 C T SNP CARD11 ENST00000396946 human ensembl 69_37n -1 known silent c.45 p.L15 0.851 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 117 0 0.00 54 16 22.86 - - - CARM1 0 genome.wustl.edu 37 19 11031748 11031748 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 11031748 11031748 G C SNP CARM1 ENST00000327064 human ensembl 69_37n +1 known missense c.1560 p.L520F 1.000 NULL pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 38 0 0.00 28 6 17.65 - - - CARS 0 genome.wustl.edu 37 11 3069055 3069055 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 3069055 3069055 G A SNP CARS ENST00000380525 human ensembl 69_37n -1 known missense c.202 p.R68W 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt - no_errors CARS HGNC ENSG00000110619 43 0 0.00 16 6 27.27 - - - CASK 0 genome.wustl.edu 37 X 41413095 41413095 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 41413095 41413095 C T SNP CASK ENST00000378163 human ensembl 69_37n -1 known missense c.1916 p.R639Q 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 120 0 0.00 53 37 41.11 - - - CASZ1 0 genome.wustl.edu 37 1 10705025 10705025 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 10705025 10705025 C G SNP CASZ1 ENST00000377022 human ensembl 69_37n -1 known missense c.3817 p.A1273P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 72 0 0.00 29 12 29.27 - - - CATSPER2P1 0 genome.wustl.edu 37 15 44036377 44036377 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 44036377 44036377 C T SNP CATSPER2P1 ENST00000429276 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 50 0 0.00 40 10 20.00 - - - CBY1 0 genome.wustl.edu 37 22 39069209 39069209 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 39069209 39069209 G C SNP CBY1 ENST00000216029 human ensembl 69_37n +1 known missense c.349 p.D117H 1.000 NULL NULL - no_errors CBY1 HGNC ENSG00000100211 74 0 0.00 46 16 25.81 - - - CCDC108 0 genome.wustl.edu 37 2 219887984 219887984 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 219887984 219887984 C T SNP CCDC108 ENST00000341552 human ensembl 69_37n -1 known missense c.2765 p.R922Q 0.062 superfamily_PapD-like,pfscan_Major_sperm superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 33 0 0.00 21 9 29.03 - - - CCDC109B 0 genome.wustl.edu 37 4 110603795 110603795 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 110603795 110603795 G A SNP CCDC109B ENST00000394650 human ensembl 69_37n +1 known missense c.509 p.R170K 0.994 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors CCDC109B HGNC ENSG00000005059 45 0 0.00 31 14 31.11 - - - CCDC110 0 genome.wustl.edu 37 4 186380336 186380336 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 186380336 186380336 G A SNP CCDC110 ENST00000307588 human ensembl 69_37n -1 known missense c.1405 p.L469F 1.000 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 19 0 0.00 24 16 40.00 - - - CCDC120 0 genome.wustl.edu 37 X 48922181 48922181 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 48922181 48922181 C T SNP CCDC120 ENST00000422185 human ensembl 69_37n +1 known missense c.605 p.A202V 0.776 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 31 0 0.00 7 5 41.67 - - - CCDC144A 0 genome.wustl.edu 37 17 16612317 16612317 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 16612317 16612317 G A SNP CCDC144A ENST00000360524 human ensembl 69_37n +1 known missense c.946 p.E316K 0.260 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 74 0 0.00 183 23 11.11 - - - CCDC47 0 genome.wustl.edu 37 17 61829734 61829734 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 61829734 61829734 C A SNP CCDC47 ENST00000225726 human ensembl 69_37n -1 known missense c.1149 p.M383I 1.000 pfam_DUF1682 pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 65 0 0.00 58 14 19.44 - - - CCDC63 0 genome.wustl.edu 37 12 111321923 111321923 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 111321923 111321923 G A SNP CCDC63 ENST00000308208 human ensembl 69_37n +1 known missense c.943 p.E315K 0.000 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 89 0 0.00 70 19 21.35 - - - CCDC78 0 genome.wustl.edu 37 16 773019 773019 + Splice_Site SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 773019 773019 C G SNP CCDC78 ENST00000293889 human ensembl 69_37n -1 known splice_site c.1201-1 e13-1 1.000 - - - no_errors CCDC78 HGNC ENSG00000162004 34 0 0.00 20 5 20.00 - - - CCDC84 0 genome.wustl.edu 37 11 118868978 118868978 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 118868978 118868978 G T SNP CCDC84 ENST00000334418 human ensembl 69_37n +1 known missense c.71 p.R24L 1.000 NULL NULL - no_errors CCDC84 HGNC ENSG00000186166 22 0 0.00 9 4 30.77 - - - CCDC88C 0 genome.wustl.edu 37 14 91745599 91745599 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 91745599 91745599 G A SNP CCDC88C ENST00000389857 human ensembl 69_37n -1 known missense c.4751 p.S1584L 0.998 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 118 0 0.00 88 12 12.00 - - - CCDC88C 0 genome.wustl.edu 37 14 91791240 91791240 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 91791240 91791240 C T SNP CCDC88C ENST00000389857 human ensembl 69_37n -1 known missense c.1225 p.E409K 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 111 0 0.00 101 17 14.29 - - - CCR4 0 genome.wustl.edu 37 3 32995515 32995515 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 32995515 32995515 C T SNP CCR4 ENST00000330953 human ensembl 69_37n +1 known missense c.601 p.L201F 0.034 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR4,prints_ATII_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR4,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 32 0 0.00 39 5 11.11 - - - CD276 0 genome.wustl.edu 37 15 73996053 73996053 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 73996053 73996053 G A SNP CD276 ENST00000318443 human ensembl 69_37n +1 known missense c.787 p.D263N 0.878 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD276 HGNC ENSG00000103855 11 0 0.00 11 6 35.29 - - - CD8A 0 genome.wustl.edu 37 2 87015674 87015674 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 87015674 87015674 C T SNP CD8A ENST00000538832 human ensembl 69_37n -1 known missense c.758 p.R253K 0.767 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8A HGNC ENSG00000153563 39 0 0.00 30 14 31.82 - - - CD96 0 genome.wustl.edu 37 3 111342638 111342638 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 111342638 111342638 G C SNP CD96 ENST00000283285 human ensembl 69_37n +1 known silent c.1266 p.V422 0.002 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD96 HGNC ENSG00000153283 70 0 0.00 41 7 14.58 - - - CDC42BPA 0 genome.wustl.edu 37 1 227307612 227307612 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 227307612 227307612 C T SNP CDC42BPA ENST00000334218 human ensembl 69_37n -1 known missense c.1540 p.E514K 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 125 0 0.00 120 33 21.57 - - - CDC42EP4 0 genome.wustl.edu 37 17 71282177 71282177 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 71282177 71282177 C G SNP CDC42EP4 ENST00000335793 human ensembl 69_37n -1 known missense c.463 p.E155Q 0.394 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP4 HGNC ENSG00000179604 18 0 0.00 10 4 28.57 - - - CDC7 0 genome.wustl.edu 37 1 91981408 91981408 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 91981408 91981408 G C SNP CDC7 ENST00000234626 human ensembl 69_37n +1 known missense c.1155 p.L385F 0.995 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDC7 HGNC ENSG00000097046 44 0 0.00 16 6 27.27 - - - CDH1 0 genome.wustl.edu 37 16 68842438 68842439 + Frame_Shift_Ins INS - - A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 68842438 68842439 - A INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.499_500 p.G169fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 52 0 0.00 28 10 26.32 - - - CDHR1 0 genome.wustl.edu 37 10 85961629 85961629 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 85961629 85961629 C G SNP CDHR1 ENST00000372117 human ensembl 69_37n +1 known missense c.592 p.L198V 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 71 0 0.00 51 10 16.13 - - - CDK11A 0 genome.wustl.edu 37 1 1635704 1635704 + Silent SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 1635704 1635704 G T SNP CDK11A ENST00000404249 human ensembl 69_37n -1 known silent c.1644 p.L548 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11A HGNC ENSG00000008128 79 0 0.00 40 26 39.39 - - - CDK11A 0 genome.wustl.edu 37 1 1647826 1647826 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 1647826 1647826 C T SNP CDK11A ENST00000404249 human ensembl 69_37n -1 known silent c.447 p.Q149 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11A HGNC ENSG00000008128 294 0 0.00 203 43 17.41 - - - CDK11B 0 genome.wustl.edu 37 1 1586887 1586887 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 1586887 1586887 C T SNP CDK11B ENST00000407249 human ensembl 69_37n -1 known missense c.163 p.D55N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11B HGNC ENSG00000248333 113 0 0.00 113 35 23.65 - - - CDK17 0 genome.wustl.edu 37 12 96691099 96691099 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 96691099 96691099 C T SNP CDK17 ENST00000261211 human ensembl 69_37n -1 known silent c.822 p.L274 0.995 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK17 HGNC ENSG00000059758 98 0 0.00 69 30 30.30 - - - CDK5RAP2 0 genome.wustl.edu 37 9 123301349 123301349 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 123301349 123301349 G C SNP CDK5RAP2 ENST00000349780 human ensembl 69_37n -1 known silent c.477 p.L159 0.583 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 153 0 0.00 94 25 21.01 - - - CEACAM8 0 genome.wustl.edu 37 19 43093885 43093885 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 43093885 43093885 C T SNP CEACAM8 ENST00000244336 human ensembl 69_37n -1 known missense c.427 p.E143K 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM8 HGNC ENSG00000124469 72 0 0.00 80 15 15.79 - - - CELA1 0 genome.wustl.edu 37 12 51737591 51737591 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 51737591 51737591 C G SNP CELA1 ENST00000293636 human ensembl 69_37n -1 known missense c.146 p.G49A 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA1 HGNC ENSG00000139610 68 0 0.00 38 11 22.00 - - - CELF2 0 genome.wustl.edu 37 10 11259429 11259429 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 11259429 11259429 G C SNP CELF2 ENST00000450189 human ensembl 69_37n +1 known missense c.313 p.E105Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 110 0 0.00 108 13 10.66 - - - CENPE 0 genome.wustl.edu 37 4 104066736 104066736 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 104066736 104066736 C G SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.4516 p.E1506Q 0.539 superfamily_Signal_recog_particl_SRP54_hlx pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 133 0 0.00 107 20 15.75 - - - CENPE 0 genome.wustl.edu 37 4 104067141 104067141 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 104067141 104067141 C G SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.4258 p.E1420Q 0.090 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 124 0 0.00 108 19 14.84 - - - CENPJ 0 genome.wustl.edu 37 13 25479707 25479707 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 25479707 25479707 C T SNP CENPJ ENST00000381884 human ensembl 69_37n -1 known silent c.2469 p.Q823 0.000 NULL pfam_Tcp10/CenJ_C - no_errors CENPJ HGNC ENSG00000151849 57 0 0.00 54 11 16.92 - - - CEP152 0 genome.wustl.edu 37 15 49048259 49048259 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 49048259 49048259 G A SNP CEP152 ENST00000380950 human ensembl 69_37n -1 known silent c.3186 p.I1062 0.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 99 0 0.00 72 29 28.43 - - - CEP350 0 genome.wustl.edu 37 1 179983440 179983440 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 179983440 179983440 C G SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.1852 p.Q618E 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 69 0 0.00 76 26 25.49 - - - CEP350 0 genome.wustl.edu 37 1 179989696 179989696 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 179989696 179989696 G C SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.2787 p.Q929H 0.998 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 41 0 0.00 29 7 19.44 - - - CES5A 0 genome.wustl.edu 37 16 55905576 55905576 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 55905576 55905576 G C SNP CES5A ENST00000521992 human ensembl 69_37n -1 known missense c.465 p.I155M 0.997 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 54 0 0.00 14 12 46.15 - - - CFTR 0 genome.wustl.edu 37 7 117232054 117232054 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 117232054 117232054 G C SNP CFTR ENST00000003084 human ensembl 69_37n +1 known missense c.1833 p.K611N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 24 0 0.00 15 10 40.00 - - - CHAF1A 0 genome.wustl.edu 37 19 4422727 4422727 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 4422727 4422727 G C SNP CHAF1A ENST00000301280 human ensembl 69_37n +1 known missense c.1182 p.E394D 0.997 NULL pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC ENSG00000167670 104 0 0.00 55 26 31.71 - - - CHD3 0 genome.wustl.edu 37 17 7809182 7809182 + Silent SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 7809182 7809182 C A SNP CHD3 ENST00000330494 human ensembl 69_37n +1 known silent c.4233 p.G1411 0.626 pfam_DUF1086 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_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,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 43 0 0.00 24 7 21.88 - - - CHD7 0 genome.wustl.edu 37 8 61654172 61654172 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 61654172 61654172 C T SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known nonsense c.181 p.Q61* 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 63 0 0.00 45 16 26.23 - - - CHFR 0 genome.wustl.edu 37 12 133446307 133446307 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 133446307 133446307 C T SNP CHFR ENST00000266880 human ensembl 69_37n -1 known missense c.517 p.E173K 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 35 0 0.00 21 13 38.24 - - - CIITA 0 genome.wustl.edu 37 16 10989596 10989596 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 10989596 10989596 G C SNP CIITA ENST00000324288 human ensembl 69_37n +1 known missense c.270 p.E90D 1.000 prints_MHC_II_transact smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 65 0 0.00 40 12 23.08 - - - CKAP5 0 genome.wustl.edu 37 11 46810261 46810261 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 46810261 46810261 C G SNP CKAP5 ENST00000415402 human ensembl 69_37n -1 known missense c.1938 p.K646N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 119 0 0.00 102 38 27.14 - - - CLCN4 0 genome.wustl.edu 37 X 10174758 10174758 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 10174758 10174758 C G SNP CLCN4 ENST00000380833 human ensembl 69_37n +1 known missense c.785 p.A262G 0.999 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 156 0 0.00 72 14 16.09 - - - CLCN6 0 genome.wustl.edu 37 1 11898657 11898657 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 11898657 11898657 C G SNP CLCN6 ENST00000346436 human ensembl 69_37n +1 known silent c.2469 p.V823 0.906 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 50 0 0.00 27 10 27.03 - - - CLCNKA 0 genome.wustl.edu 37 1 16356470 16356470 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 16356470 16356470 C T SNP CLCNKA ENST00000331433 human ensembl 69_37n +1 known silent c.1308 p.I436 0.909 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 51 0 0.00 38 14 26.92 - - - CLDN8 0 genome.wustl.edu 37 21 31587860 31587860 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 31587860 31587860 G A SNP CLDN8 ENST00000286809 human ensembl 69_37n -1 known silent c.384 p.I128 0.093 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC ENSG00000156284 56 0 0.00 34 8 19.05 - - - CLEC4D 0 genome.wustl.edu 37 12 8670867 8670867 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 8670867 8670867 G A SNP CLEC4D ENST00000299665 human ensembl 69_37n +1 known missense c.229 p.E77K 0.088 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 35 0 0.00 32 15 31.91 - - - CLIC6 0 genome.wustl.edu 37 21 36088711 36088711 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 36088711 36088711 C A SNP CLIC6 ENST00000360731 human ensembl 69_37n +1 known missense c.2046 p.F682L 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC6 HGNC ENSG00000159212 106 0 0.00 84 31 26.96 - - - CLPSL2 0 genome.wustl.edu 37 6 35745264 35745264 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 35745264 35745264 C G SNP CLPSL2 ENST00000360454 human ensembl 69_37n +1 known missense c.113 p.S38C 0.000 NULL NULL - no_errors CLPSL2 HGNC ENSG00000196748 43 0 0.00 22 5 18.52 - - - CLSTN2 0 genome.wustl.edu 37 3 140185532 140185532 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 140185532 140185532 G A SNP CLSTN2 ENST00000458420 human ensembl 69_37n +1 known missense c.1303 p.D435N 1.000 superfamily_ConA-like_lec_gl pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 43 0 0.00 17 8 32.00 - - - CMYA5 0 genome.wustl.edu 37 5 79025052 79025052 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 79025052 79025052 C G SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.464 p.S155C 0.733 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 44 0 0.00 57 14 19.72 - - - CMYA5 0 genome.wustl.edu 37 5 79030755 79030755 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 79030755 79030755 C T SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.6167 p.S2056L 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 16 0 0.00 12 13 52.00 - - - CMYA5 0 genome.wustl.edu 37 5 79031127 79031127 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 79031127 79031127 C T SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.6539 p.S2180L 0.983 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 13 0 0.00 4 6 60.00 - - - CNIH4 0 genome.wustl.edu 37 1 224548252 224548252 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 224548252 224548252 C T SNP CNIH4 ENST00000465271 human ensembl 69_37n +1 known missense c.125 p.S42L 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH4 HGNC ENSG00000143771 56 0 0.00 63 16 20.25 - - - CNTNAP2 0 genome.wustl.edu 37 7 147259301 147259301 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 147259301 147259301 G A SNP CNTNAP2 ENST00000361727 human ensembl 69_37n +1 known missense c.1849 p.D617N 1.000 superfamily_Fibrinogen_a/b/g_C pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 80 0 0.00 77 21 21.21 - - - CNTNAP3 0 genome.wustl.edu 37 9 39100067 39100067 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 39100067 39100067 C T SNP CNTNAP3 ENST00000297668 human ensembl 69_37n -1 known missense c.2836 p.E946K 1.000 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 18 0 0.00 18 9 33.33 - - - CNTNAP5 0 genome.wustl.edu 37 2 125192094 125192094 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 125192094 125192094 C T SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known missense c.563 p.S188L 1.000 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 81 0 0.00 53 29 35.37 - - - COL11A1 0 genome.wustl.edu 37 1 103491465 103491465 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 103491465 103491465 G T SNP COL11A1 ENST00000358392 human ensembl 69_37n -1 known missense c.824 p.T275N 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 193 0 0.00 136 26 16.05 - - - COL4A2 0 genome.wustl.edu 37 13 111125395 111125395 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 111125395 111125395 G A SNP COL4A2 ENST00000360467 human ensembl 69_37n +1 known missense c.2323 p.E775K 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 12 0 0.00 10 6 37.50 - - - COL6A1 0 genome.wustl.edu 37 21 47407424 47407424 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 47407424 47407424 C T SNP COL6A1 ENST00000361866 human ensembl 69_37n +1 known silent c.750 p.F250 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 56 0 0.00 26 12 30.77 - - - COL8A1 0 genome.wustl.edu 37 3 99513932 99513932 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 99513932 99513932 G T SNP COL8A1 ENST00000261037 human ensembl 69_37n +1 known missense c.1187 p.G396V 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 25 0 0.00 13 9 40.91 - - - COLQ 0 genome.wustl.edu 37 3 15518644 15518644 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 15518644 15518644 C T SNP COLQ ENST00000383788 human ensembl 69_37n -1 known missense c.454 p.E152K 0.966 pfam_Collagen pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 50 0 0.00 24 8 25.00 - - - COPS6 0 genome.wustl.edu 37 7 99689093 99689093 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 99689093 99689093 C T SNP COPS6 ENST00000303904 human ensembl 69_37n +1 known missense c.793 p.H265Y 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors COPS6 HGNC ENSG00000168090 85 0 0.00 41 18 30.51 - - - CP 0 genome.wustl.edu 37 3 148903057 148903057 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 148903057 148903057 C T SNP CP ENST00000264613 human ensembl 69_37n -1 known missense c.2254 p.E752K 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 84 0 0.00 61 10 13.89 - - - CPB2 0 genome.wustl.edu 37 13 46658437 46658437 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 46658437 46658437 C G SNP CPB2 ENST00000181383 human ensembl 69_37n -1 known missense c.192 p.K64N 0.031 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 78 0 0.00 65 25 27.78 - - - CPED1 0 genome.wustl.edu 37 7 120768504 120768504 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 120768504 120768504 C T SNP CPED1 ENST00000310396 human ensembl 69_37n +1 known silent c.1371 p.F457 0.998 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 23 0 0.00 31 15 31.91 - - - CPSF7 0 genome.wustl.edu 37 11 61183744 61183744 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 61183744 61183744 G C SNP CPSF7 ENST00000340437 human ensembl 69_37n -1 known silent c.927 p.L309 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC ENSG00000149532 44 0 0.00 24 4 14.29 - - - CPVL 0 genome.wustl.edu 37 7 29152329 29152329 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 29152329 29152329 G T SNP CPVL ENST00000265394 human ensembl 69_37n -1 known missense c.279 p.F93L 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 62 0 0.00 36 11 23.40 - - - CRAMP1L 0 genome.wustl.edu 37 16 1712533 1712533 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 1712533 1712533 C G SNP CRAMP1L ENST00000293925 human ensembl 69_37n +1 known missense c.2456 p.S819C 0.961 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 37 0 0.00 12 7 36.84 - - - CREBBP 0 genome.wustl.edu 37 16 3900518 3900518 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 3900518 3900518 G C SNP CREBBP ENST00000262367 human ensembl 69_37n -1 known missense c.578 p.S193C 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 70 0 0.00 62 8 11.27 - - - CRNKL1 0 genome.wustl.edu 37 20 20031155 20031155 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 20031155 20031155 C T SNP CRNKL1 ENST00000377340 human ensembl 69_37n -1 known missense c.646 p.D216N 1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 147 0 0.00 117 44 27.33 - - - CRYAB 0 genome.wustl.edu 37 11 111781132 111781132 + Silent SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 111781132 111781132 C A SNP CRYAB ENST00000227251 human ensembl 69_37n -1 known silent c.243 p.V81 1.000 pfam_Hsp20,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_Hsp20 pfam_Alpha-crystallin_N,pfam_Hsp20,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_Hsp20 - no_errors CRYAB HGNC ENSG00000109846 68 0 0.00 32 10 23.81 - - - CRYBA4 0 genome.wustl.edu 37 22 27026323 27026323 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 27026323 27026323 C T SNP CRYBA4 ENST00000354760 human ensembl 69_37n +1 known missense c.463 p.P155S 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA4 HGNC ENSG00000196431 103 0 0.00 63 25 28.41 - - - CRYBG3 0 genome.wustl.edu 37 3 97596117 97596117 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 97596117 97596117 C A SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known missense c.235 p.H79N 0.439 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 30 0 0.00 29 8 21.62 - - - CSDE1 0 genome.wustl.edu 37 1 115282499 115282499 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 115282499 115282499 G C SNP CSDE1 ENST00000369530 human ensembl 69_37n -1 known missense c.151 p.P51A 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 38 0 0.00 41 11 21.15 - - - CSF3R 0 genome.wustl.edu 37 1 36932074 36932074 + Missense_Mutation SNP T T A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 36932074 36932074 T A SNP CSF3R ENST00000373103 human ensembl 69_37n -1 known missense c.2476 p.T826S 0.001 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 31 0 0.00 12 6 31.58 - - - CSMD2 0 genome.wustl.edu 37 1 34291356 34291356 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 34291356 34291356 C T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known silent c.1053 p.L351 1.000 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 58 0 0.00 39 12 23.53 - - - CSPP1 0 genome.wustl.edu 37 8 68071328 68071328 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 68071328 68071328 C A SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known missense c.2479 p.Q827K 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 49 0 0.00 46 21 31.34 - - - CSTF2T 0 genome.wustl.edu 37 10 53457842 53457842 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 53457842 53457842 G A SNP CSTF2T ENST00000331173 human ensembl 69_37n -1 known nonsense c.1468 p.Q490* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 56 0 0.00 34 9 20.93 - - - CTAGE5 0 genome.wustl.edu 37 14 39815162 39815162 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 39815162 39815162 C T SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known missense c.1901 p.S634F 0.997 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 88 0 0.00 82 20 19.61 - - - CTSL3 0 genome.wustl.edu 37 9 90401666 90401666 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 90401666 90401666 C T SNP CTSL3 ENST00000354530 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors CTSL3 HGNC ENSG00000188029 74 0 0.00 86 13 13.13 - - - CUX1 0 genome.wustl.edu 37 7 101842130 101842130 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 101842130 101842130 G A SNP CUX1 ENST00000360264 human ensembl 69_37n +1 known missense c.1976 p.R659Q 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 86 0 0.00 49 16 24.62 - - - CXorf48 0 genome.wustl.edu 37 X 134292176 134292176 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 134292176 134292176 G C SNP CXorf48 ENST00000276241 human ensembl 69_37n -1 known nonsense c.485 p.S162* 0.000 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf48 HGNC ENSG00000169551 94 0 0.00 54 12 18.18 - - - CYP2C19 0 genome.wustl.edu 37 10 96602677 96602677 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 96602677 96602677 G A SNP CYP2C19 ENST00000371321 human ensembl 69_37n +1 known missense c.1045 p.D349N 0.984 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 87 0 0.00 58 26 30.59 - - - CYP2J2 0 genome.wustl.edu 37 1 60378062 60378062 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 60378062 60378062 C T SNP CYP2J2 ENST00000492633 human ensembl 69_37n -1 known rna NULL NULL 0.008 - - - no_errors CYP2J2 HGNC ENSG00000134716 18 0 0.00 21 11 33.33 - - - DAP3 0 genome.wustl.edu 37 1 155686854 155686854 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 155686854 155686854 C T SNP DAP3 ENST00000343043 human ensembl 69_37n +1 known missense c.103 p.H35Y 0.001 NULL pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 55 0 0.00 68 16 19.05 - - - DARS2 0 genome.wustl.edu 37 1 173806108 173806108 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 173806108 173806108 G A SNP DARS2 ENST00000361951 human ensembl 69_37n +1 known missense c.694 p.E232K 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-synth_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-synth_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 136 0 0.00 139 40 22.35 - - - DCLRE1B 0 genome.wustl.edu 37 1 114454081 114454081 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 114454081 114454081 G A SNP DCLRE1B ENST00000369563 human ensembl 69_37n +1 known silent c.867 p.L289 0.426 pfam_DRMBL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 53 0 0.00 38 6 13.64 - - - DDX3X 0 genome.wustl.edu 37 X 41203588 41203588 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 41203588 41203588 G T SNP DDX3X ENST00000399959 human ensembl 69_37n +1 known missense c.961 p.V321L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,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 243 0 0.00 130 31 19.25 - - - DDX4 0 genome.wustl.edu 37 5 55082490 55082490 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 55082490 55082490 G T SNP DDX4 ENST00000505374 human ensembl 69_37n +1 known missense c.1009 p.G337W 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 35 0 0.00 24 11 31.43 - - - DDX42 0 genome.wustl.edu 37 17 61864561 61864561 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 61864561 61864561 C G SNP DDX42 ENST00000389924 human ensembl 69_37n +1 known nonsense c.152 p.S51* 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 113 0 0.00 175 41 18.89 - - - DDX42 0 genome.wustl.edu 37 17 61876968 61876968 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 61876968 61876968 G A SNP DDX42 ENST00000389924 human ensembl 69_37n +1 known missense c.454 p.E152K 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 121 0 0.00 209 42 16.67 - - - DDX60L 0 genome.wustl.edu 37 4 169305835 169305835 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 169305835 169305835 G A SNP DDX60L ENST00000260184 human ensembl 69_37n -1 known silent c.4044 p.L1348 0.027 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 72 0 0.00 43 18 29.51 - - - DEK 0 genome.wustl.edu 37 6 18249944 18249944 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 18249944 18249944 C T SNP DEK ENST00000397239 human ensembl 69_37n -1 known missense c.700 p.E234K 1.000 NULL pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd - no_errors DEK HGNC ENSG00000124795 173 0 0.00 104 34 24.64 - - - DFNB59 0 genome.wustl.edu 37 2 179320772 179320772 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 179320772 179320772 C G SNP DFNB59 ENST00000375129 human ensembl 69_37n +1 known nonsense c.443 p.S148* 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNB59 HGNC ENSG00000204311 36 0 0.00 31 8 20.51 - - - DGCR14 0 genome.wustl.edu 37 22 19127420 19127420 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 19127420 19127420 C T SNP DGCR14 ENST00000252137 human ensembl 69_37n -1 known missense c.518 p.R173K 1.000 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 48 0 0.00 35 11 23.91 - - - DHRS7 0 genome.wustl.edu 37 14 60619764 60619764 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 60619764 60619764 G A SNP DHRS7 ENST00000216500 human ensembl 69_37n -1 known missense c.526 p.H176Y 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7 HGNC ENSG00000100612 38 0 0.00 43 9 17.31 - - - DICER1 0 genome.wustl.edu 37 14 95569715 95569715 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 95569715 95569715 C G SNP DICER1 ENST00000343455 human ensembl 69_37n -1 known missense c.4018 p.E1340Q 1.000 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 34 0 0.00 24 7 22.58 - - - DIEXF 0 genome.wustl.edu 37 1 210001507 210001507 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 210001507 210001507 C T SNP DIEXF ENST00000491415 human ensembl 69_37n +1 known silent c.99 p.F33 1.000 NULL pfam_Digest_organ_expansion_fac-prd - no_errors DIEXF HGNC ENSG00000117597 24 0 0.00 15 7 31.82 - - - DISP1 0 genome.wustl.edu 37 1 223116391 223116391 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 223116391 223116391 C G SNP DISP1 ENST00000284476 human ensembl 69_37n +1 known missense c.226 p.Q76E 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 126 0 0.00 93 18 16.22 - - - DLEU7 0 genome.wustl.edu 37 13 51287277 51287277 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 51287277 51287277 C T SNP DLEU7 ENST00000443723 human ensembl 69_37n -1 known rna NULL NULL 0.335 - - - no_errors DLEU7 HGNC ENSG00000186047 34 0 0.00 36 13 26.53 - - - DMXL2 0 genome.wustl.edu 37 15 51778354 51778354 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 51778354 51778354 G A SNP DMXL2 ENST00000543779 human ensembl 69_37n -1 known missense c.5398 p.L1800F 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 73 0 0.00 78 15 16.13 - - - DNAH12 0 genome.wustl.edu 37 3 57335860 57335860 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 57335860 57335860 C T SNP DNAH12 ENST00000462199 human ensembl 69_37n -1 putative nonsense c.1764 p.W588* 1.000 pfam_Dynein_heavy pfam_Dynein_heavy - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNAH12 HGNC ENSG00000174844 68 0 0.00 42 17 28.33 - - - DNAH14 0 genome.wustl.edu 37 1 225155281 225155281 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 225155281 225155281 C G SNP DNAH14 ENST00000430092 human ensembl 69_37n +1 known nonsense c.647 p.S216* 0.951 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 63 0 0.00 124 14 10.14 - - - DNAH6 0 genome.wustl.edu 37 2 84745089 84745089 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 84745089 84745089 G C SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.139 p.D47H 0.001 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 52 0 0.00 49 16 24.62 - - - DNAH8 0 genome.wustl.edu 37 6 38885163 38885163 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 38885163 38885163 C T SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.9638 p.S3213L 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 63 0 0.00 61 12 16.44 - - - DNAJC16 0 genome.wustl.edu 37 1 15888676 15888676 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 15888676 15888676 G C SNP DNAJC16 ENST00000375847 human ensembl 69_37n +1 known missense c.1194 p.L398F 0.000 NULL pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJC16 HGNC ENSG00000116138 116 0 0.00 85 25 22.73 - - - DNAJC16 0 genome.wustl.edu 37 1 15890499 15890499 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 15890499 15890499 G C SNP DNAJC16 ENST00000375847 human ensembl 69_37n +1 known missense c.1414 p.E472Q 0.999 NULL pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJC16 HGNC ENSG00000116138 57 0 0.00 59 12 16.90 - - - DOCK1 0 genome.wustl.edu 37 10 129160347 129160347 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 129160347 129160347 C A SNP DOCK1 ENST00000280333 human ensembl 69_37n +1 known missense c.3240 p.F1080L 1.000 superfamily_ARM-type_fold pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 36 0 0.00 54 8 12.90 - - - DOCK4 0 genome.wustl.edu 37 7 111451976 111451976 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 111451976 111451976 G C SNP DOCK4 ENST00000428084 human ensembl 69_37n -1 known nonsense c.2960 p.S987* 1.000 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 46 0 0.00 33 10 23.26 - - - DOCK7 0 genome.wustl.edu 37 1 62959997 62959997 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 62959997 62959997 C T SNP DOCK7 ENST00000454575 human ensembl 69_37n -1 known missense c.2653 p.E885K 1.000 NULL pfam_DOCK,superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK7 HGNC ENSG00000116641 57 0 0.00 26 13 33.33 - - - DOCK7 0 genome.wustl.edu 37 1 62961313 62961313 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 62961313 62961313 C G SNP DOCK7 ENST00000251157 human ensembl 69_37n -1 known missense c.4936 p.D1646H 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 76 0 0.00 69 24 25.81 - - - DOCK7 0 genome.wustl.edu 37 1 62961323 62961323 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 62961323 62961323 C T SNP DOCK7 ENST00000251157 human ensembl 69_37n -1 known missense c.4926 p.M1642I 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 74 0 0.00 69 23 24.73 - - - DPP8 0 genome.wustl.edu 37 15 65790229 65790229 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 65790229 65790229 C T SNP DPP8 ENST00000341861 human ensembl 69_37n -1 known missense c.736 p.E246K 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 91 0 0.00 86 10 10.42 - - - DRGX 0 genome.wustl.edu 37 10 50599324 50599324 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 50599324 50599324 G A SNP DRGX ENST00000434016 human ensembl 69_37n -1 known silent c.33 p.I11 0.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors DRGX HGNC ENSG00000165606 34 0 0.00 26 11 29.73 - - - DROSHA 0 genome.wustl.edu 37 5 31401594 31401594 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 31401594 31401594 C A SNP DROSHA ENST00000344624 human ensembl 69_37n -1 known missense c.4070 p.W1357L 1.000 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 171 0 0.00 110 39 26.00 - - - DSE 0 genome.wustl.edu 37 6 116579988 116579988 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 116579988 116579988 G A SNP DSE ENST00000540275 human ensembl 69_37n +1 known missense c.382 p.E128K 0.979 NULL NULL - no_errors DSE HGNC ENSG00000111817 50 0 0.00 21 4 16.00 - - - E2F5 0 genome.wustl.edu 37 8 86127297 86127297 + RNA SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 86127297 86127297 G C SNP E2F5 ENST00000519128 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors E2F5 HGNC ENSG00000133740 27 0 0.00 26 10 27.78 - - - EEA1 0 genome.wustl.edu 37 12 93210085 93210085 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 93210085 93210085 G A SNP EEA1 ENST00000322349 human ensembl 69_37n -1 known missense c.1820 p.A607V 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 146 0 0.00 100 36 26.47 - - - EFCAB6 0 genome.wustl.edu 37 22 44079633 44079633 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 44079633 44079633 G A SNP EFCAB6 ENST00000262726 human ensembl 69_37n -1 known silent c.1245 p.I415 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 129 0 0.00 121 14 10.14 - - - EGFLAM 0 genome.wustl.edu 37 5 38418272 38418272 + Silent SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 38418272 38418272 C A SNP EGFLAM ENST00000354891 human ensembl 69_37n +1 known silent c.1599 p.G533 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 68 0 0.00 46 20 30.30 - - - EIF4E2 0 genome.wustl.edu 37 2 233431864 233431864 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 233431864 233431864 G A SNP EIF4E2 ENST00000258416 human ensembl 69_37n +1 known missense c.605 p.R202Q 1.000 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E2 HGNC ENSG00000135930 45 0 0.00 19 16 45.71 - - - EIF4G1 0 genome.wustl.edu 37 3 184039808 184039808 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 184039808 184039808 G T SNP EIF4G1 ENST00000352767 human ensembl 69_37n +1 known missense c.1457 p.G486V 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 28 0 0.00 21 9 30.00 - - - EMC7 0 genome.wustl.edu 37 15 34382543 34382543 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 34382543 34382543 C T SNP EMC7 ENST00000256545 human ensembl 69_37n -1 known nonsense c.470 p.W157* 1.000 pfam_DUF2012 pfam_DUF2012,superfamily_Carb-bd-like_fold - no_errors EMC7 HGNC ENSG00000134153 69 0 0.00 56 23 28.75 - - - EML6 0 genome.wustl.edu 37 2 55191121 55191121 + Splice_Site SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 55191121 55191121 G A SNP EML6 ENST00000481376 human ensembl 69_37n +1 known splice_site c.NULL NULL 1.000 - - - no_errors EML6 HGNC ENSG00000214595 63 0 0.00 53 15 21.74 - - - ENAM 0 genome.wustl.edu 37 4 71509721 71509721 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 71509721 71509721 C G SNP ENAM ENST00000396073 human ensembl 69_37n +1 known missense c.2578 p.Q860E 0.987 NULL NULL - no_errors ENAM HGNC ENSG00000132464 61 0 0.00 47 18 27.69 - - - ENG 0 genome.wustl.edu 37 9 130579444 130579444 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 130579444 130579444 G A SNP ENG ENST00000373203 human ensembl 69_37n -1 known silent c.1725 p.I575 0.997 NULL pfam_Zona_pellucida_Endoglin/CD105 - no_errors ENG HGNC ENSG00000106991 55 0 0.00 28 19 40.43 - - - EPHX2 0 genome.wustl.edu 37 8 27373304 27373304 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 27373304 27373304 G A SNP EPHX2 ENST00000521400 human ensembl 69_37n +1 known missense c.805 p.E269K 1.000 prints_Epox_hydrolase-like pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors EPHX2 HGNC ENSG00000120915 71 0 0.00 43 8 15.69 - - - EPRS 0 genome.wustl.edu 37 1 220170425 220170425 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 220170425 220170425 G A SNP EPRS ENST00000366923 human ensembl 69_37n -1 known missense c.2441 p.S814F 0.000 NULL pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 100 0 0.00 104 19 15.08 - - - ERLIN1 0 genome.wustl.edu 37 10 101927112 101927112 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 101927112 101927112 C G SNP ERLIN1 ENST00000407654 human ensembl 69_37n -1 known missense c.556 p.E186Q 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors ERLIN1 HGNC ENSG00000107566 129 0 0.00 105 28 21.05 - - - ERMP1 0 genome.wustl.edu 37 9 5787227 5787227 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 5787227 5787227 G C SNP ERMP1 ENST00000339450 human ensembl 69_37n -1 known missense c.2632 p.Q878E 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 43 0 0.00 45 8 15.09 - - - ETS2 0 genome.wustl.edu 37 21 40191444 40191444 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 40191444 40191444 G A SNP ETS2 ENST00000360214 human ensembl 69_37n +1 known missense c.829 p.D277N 0.984 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS2 HGNC ENSG00000157557 40 0 0.00 30 4 11.76 - - - ETV2 0 genome.wustl.edu 37 19 36135560 36135560 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 36135560 36135560 C T SNP ETV2 ENST00000402764 human ensembl 69_37n +1 known missense c.835 p.R279W 0.894 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV2 HGNC ENSG00000105672 17 0 0.00 10 4 28.57 - - - ETV5 0 genome.wustl.edu 37 3 185823642 185823642 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 185823642 185823642 C G SNP ETV5 ENST00000537818 human ensembl 69_37n -1 known missense c.142 p.D48H 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV5 HGNC ENSG00000244405 90 0 0.00 51 21 28.77 - - - EXOC4 0 genome.wustl.edu 37 7 133002139 133002139 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 133002139 133002139 C G SNP EXOC4 ENST00000253861 human ensembl 69_37n +1 known nonsense c.758 p.S253* 0.998 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 120 0 0.00 69 32 31.68 - - - EXOC7 0 genome.wustl.edu 37 17 74084200 74084200 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 74084200 74084200 C T SNP EXOC7 ENST00000335146 human ensembl 69_37n -1 known missense c.1456 p.D486N 1.000 pfam_Exo70,superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 30 0 0.00 21 8 27.59 - - - EYA4 0 genome.wustl.edu 37 6 133802655 133802655 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 133802655 133802655 G C SNP EYA4 ENST00000355167 human ensembl 69_37n +1 known missense c.1025 p.R342T 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 65 0 0.00 44 8 15.38 - - - FAF1 0 genome.wustl.edu 37 1 50956274 50956274 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 50956274 50956274 C G SNP FAF1 ENST00000371778 human ensembl 69_37n -1 known missense c.1639 p.E547Q 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 91 0 0.00 76 43 36.13 - - - FAM13A 0 genome.wustl.edu 37 4 89668139 89668139 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 89668139 89668139 C G SNP FAM13A ENST00000264344 human ensembl 69_37n -1 known missense c.2410 p.E804Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 114 0 0.00 53 42 44.21 - - - FAM13B 0 genome.wustl.edu 37 5 137290027 137290027 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 137290027 137290027 C T SNP FAM13B ENST00000033079 human ensembl 69_37n -1 known missense c.1480 p.E494K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 30 0 0.00 19 10 34.48 - - - FAM13C 0 genome.wustl.edu 37 10 61122179 61122179 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 61122179 61122179 G A SNP FAM13C ENST00000373868 human ensembl 69_37n -1 known silent c.42 p.F14 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 80 0 0.00 49 21 29.58 - - - FAM160B2 0 genome.wustl.edu 37 8 21957369 21957369 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 21957369 21957369 C T SNP FAM160B2 ENST00000289921 human ensembl 69_37n +1 known missense c.1306 p.H436Y 0.998 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 17 0 0.00 14 8 34.78 - - - FAM186A 0 genome.wustl.edu 37 12 50745916 50745916 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 50745916 50745916 G C SNP FAM186A ENST00000327337 human ensembl 69_37n -1 known missense c.4699 p.L1567V 0.003 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 112 0 0.00 118 38 24.36 - - - FAM18B2 0 genome.wustl.edu 37 17 15406381 15406381 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 15406381 15406381 C T SNP FAM18B2 ENST00000225576 human ensembl 69_37n -1 known missense c.628 p.D210N 0.000 NULL pfam_DUF846_euk - no_errors FAM18B2 HGNC ENSG00000175106 48 0 0.00 16 11 40.74 - - - FAM190B 0 genome.wustl.edu 37 10 86185546 86185546 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 86185546 86185546 G A SNP FAM190B ENST00000372088 human ensembl 69_37n +1 known missense c.1765 p.E589K 1.000 NULL NULL - no_errors FAM190B HGNC ENSG00000107771 57 0 0.00 51 9 15.00 - - - FAM200A 0 genome.wustl.edu 37 7 99144807 99144807 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 99144807 99144807 C G SNP FAM200A ENST00000449309 human ensembl 69_37n -1 known missense c.1224 p.E408D 0.891 NULL superfamily_RNaseH-like_dom - no_errors FAM200A HGNC ENSG00000221909 30 0 0.00 18 6 25.00 - - - FAM200B 0 genome.wustl.edu 37 4 15690057 15690057 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 15690057 15690057 G C SNP FAM200B ENST00000422728 human ensembl 69_37n +1 putative missense c.1457 p.R486T 0.906 superfamily_PAH superfamily_RNaseH-like_dom,superfamily_PAH - no_errors FAM200B HGNC ENSG00000237765 45 0 0.00 48 10 17.24 - - - FAM65B 0 genome.wustl.edu 37 6 24843212 24843212 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 24843212 24843212 G C SNP FAM65B ENST00000259698 human ensembl 69_37n -1 known missense c.1798 p.L600V 0.377 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 79 0 0.00 46 25 35.21 - - - FAM71A 0 genome.wustl.edu 37 1 212799107 212799107 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 212799107 212799107 G C SNP FAM71A ENST00000294829 human ensembl 69_37n +1 known missense c.888 p.L296F 0.000 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 25 0 0.00 11 7 38.89 - - - FAM98A 0 genome.wustl.edu 37 2 33817255 33817255 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 33817255 33817255 G T SNP FAM98A ENST00000238823 human ensembl 69_37n -1 known missense c.229 p.L77I 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 51 0 0.00 25 9 26.47 - - - FASN 0 genome.wustl.edu 37 17 80053314 80053314 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 80053314 80053314 C T SNP FASN ENST00000306749 human ensembl 69_37n -1 known silent c.162 p.L54 0.999 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 35 0 0.00 16 6 27.27 - - - FBN1 0 genome.wustl.edu 37 15 48703211 48703211 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 48703211 48703211 C T SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.8592 p.M2864I 1.000 pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 124 0 0.00 113 38 25.17 - - - FBN2 0 genome.wustl.edu 37 5 127712538 127712538 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 127712538 127712538 C T SNP FBN2 ENST00000262464 human ensembl 69_37n -1 known missense c.1858 p.E620K 1.000 pirsf_Fibrillin,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 46 0 0.00 51 22 30.14 - - - FBXO21 0 genome.wustl.edu 37 12 117595778 117595778 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 117595778 117595778 C G SNP FBXO21 ENST00000330622 human ensembl 69_37n -1 known missense c.1438 p.E480Q 1.000 superfamily_F-box_dom_cyclin-like pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 47 0 0.00 52 8 13.33 - - - FBXO33 0 genome.wustl.edu 37 14 39871049 39871049 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 39871049 39871049 C T SNP FBXO33 ENST00000298097 human ensembl 69_37n -1 known missense c.727 p.E243K 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO33 HGNC ENSG00000165355 35 0 0.00 16 5 23.81 - - - FBXW2 0 genome.wustl.edu 37 9 123527031 123527031 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 123527031 123527031 C T SNP FBXW2 ENST00000373926 human ensembl 69_37n -1 known missense c.1171 p.D391N 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 38 0 0.00 31 14 31.11 - - - FBXW2 0 genome.wustl.edu 37 9 123535049 123535049 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 123535049 123535049 C T SNP FBXW2 ENST00000373926 human ensembl 69_37n -1 known missense c.889 p.D297N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 47 0 0.00 33 11 25.00 - - - FBXW4 0 genome.wustl.edu 37 10 103384621 103384621 + RNA SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 103384621 103384621 G C SNP FBXW4 ENST00000470093 human ensembl 69_37n -1 known rna NULL NULL 0.047 - - - no_errors FBXW4 HGNC ENSG00000107829 29 0 0.00 19 11 36.67 - - - FCAMR 0 genome.wustl.edu 37 1 207134028 207134028 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 207134028 207134028 G A SNP FCAMR ENST00000324852 human ensembl 69_37n -1 novel missense c.1193 p.S398F 0.308 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors FCAMR HGNC ENSG00000162897 99 0 0.00 88 24 21.43 - - - FCRL2 0 genome.wustl.edu 37 1 157737109 157737109 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 157737109 157737109 C G SNP FCRL2 ENST00000361516 human ensembl 69_37n -1 known missense c.1074 p.L358F 0.203 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL2 HGNC ENSG00000132704 30 0 0.00 28 9 24.32 - - - FCRL5 0 genome.wustl.edu 37 1 157509116 157509116 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 157509116 157509116 C T SNP FCRL5 ENST00000356953 human ensembl 69_37n -1 known missense c.1162 p.E388K 0.000 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 58 0 0.00 46 18 28.12 - - - FDCSP 0 genome.wustl.edu 37 4 71098739 71098739 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 71098739 71098739 G C SNP FDCSP ENST00000317987 human ensembl 69_37n +1 known missense c.86 p.R29T 0.709 NULL NULL - no_errors FDCSP HGNC ENSG00000181617 114 0 0.00 120 17 12.41 - - - FER 0 genome.wustl.edu 37 5 108168544 108168544 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 108168544 108168544 C G SNP FER ENST00000281092 human ensembl 69_37n +1 known missense c.281 p.S94C 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors FER HGNC ENSG00000151422 49 0 0.00 49 20 28.99 - - - FER1L6 0 genome.wustl.edu 37 8 124982322 124982322 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 124982322 124982322 G C SNP FER1L6 ENST00000399018 human ensembl 69_37n +1 known missense c.432 p.K144N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 152 0 0.00 110 36 24.66 - - - FGFR1OP 0 genome.wustl.edu 37 6 167417226 167417226 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 167417226 167417226 G A SNP FGFR1OP ENST00000366847 human ensembl 69_37n +1 known missense c.227 p.S76N 1.000 pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation - no_errors FGFR1OP HGNC ENSG00000213066 341 1 0.29 212 62 22.63 - - - FGGY 0 genome.wustl.edu 37 1 59922675 59922675 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 59922675 59922675 G C SNP FGGY ENST00000303721 human ensembl 69_37n +1 known missense c.597 p.E199D 0.314 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 152 0 0.00 121 68 35.98 - - - FKBP5 0 genome.wustl.edu 37 6 35588008 35588008 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 35588008 35588008 C T SNP FKBP5 ENST00000337746 human ensembl 69_37n -1 known silent c.294 p.K98 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 91 0 0.00 65 15 18.52 - - - FKBP5 0 genome.wustl.edu 37 6 35588011 35588011 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 35588011 35588011 C T SNP FKBP5 ENST00000337746 human ensembl 69_37n -1 known missense c.291 p.M97I 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 92 0 0.00 65 16 19.75 - - - FLNA 0 genome.wustl.edu 37 X 153594507 153594507 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 153594507 153594507 G A SNP FLNA ENST00000369850 human ensembl 69_37n -1 known silent c.1314 p.G438 0.928 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 FLNA HGNC ENSG00000196924 19 0 0.00 5 5 50.00 - - - FLNC 0 genome.wustl.edu 37 7 128484829 128484829 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 128484829 128484829 G A SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.3310 p.E1104K 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 FLNC HGNC ENSG00000128591 35 0 0.00 13 5 27.78 - - - FLRT3 0 genome.wustl.edu 37 20 14306370 14306370 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 14306370 14306370 G T SNP FLRT3 ENST00000341420 human ensembl 69_37n -1 known missense c.1783 p.Q595K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 89 0 0.00 68 18 20.93 - - - FMN1 0 genome.wustl.edu 37 15 33149276 33149276 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 33149276 33149276 C G SNP FMN1 ENST00000334528 human ensembl 69_37n -1 known missense c.3199 p.E1067Q 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC ENSG00000248905 94 0 0.00 62 15 19.23 - - - FOLH1B 0 genome.wustl.edu 37 11 89391855 89391855 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 89391855 89391855 C T SNP FOLH1B ENST00000526379 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 74 0 0.00 41 20 32.79 - - - FRAS1 0 genome.wustl.edu 37 4 79410060 79410060 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 79410060 79410060 C G SNP FRAS1 ENST00000512123 human ensembl 69_37n +1 novel missense c.3469 p.P1157A 0.997 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FRAS1 HGNC ENSG00000138759 66 0 0.00 66 19 22.35 - - - FTCD 0 genome.wustl.edu 37 21 47556829 47556829 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 47556829 47556829 C T SNP FTCD ENST00000359679 human ensembl 69_37n -1 known missense c.1678 p.E560K 0.001 NULL 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 15 0 0.00 8 4 33.33 - - - FYTTD1 0 genome.wustl.edu 37 3 197497048 197497048 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 197497048 197497048 C T SNP FYTTD1 ENST00000241502 human ensembl 69_37n +1 known silent c.430 p.L144 1.000 pfam_DUF1346 pfam_DUF1346 - no_errors FYTTD1 HGNC ENSG00000122068 74 0 0.00 39 18 31.58 - - - FZD3 0 genome.wustl.edu 37 8 28385334 28385334 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 28385334 28385334 G A SNP FZD3 ENST00000240093 human ensembl 69_37n +1 known missense c.1057 p.E353K 1.000 pfam_Frizzled,prints_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like - no_errors FZD3 HGNC ENSG00000104290 119 0 0.00 100 14 12.28 - - - GALNT1 0 genome.wustl.edu 37 18 33243615 33243615 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 33243615 33243615 C T SNP GALNT1 ENST00000269195 human ensembl 69_37n +1 known missense c.163 p.H55Y 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 GALNT1 HGNC ENSG00000141429 61 0 0.00 62 19 23.46 - - - GALNT12 0 genome.wustl.edu 37 9 101597549 101597549 + Silent SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 101597549 101597549 T G SNP GALNT12 ENST00000375011 human ensembl 69_37n +1 known silent c.936 p.G312 0.816 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 GALNT12 HGNC ENSG00000119514 169 1 0.59 120 40 25.00 - - - GAS6 0 genome.wustl.edu 37 13 114537535 114537535 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 114537535 114537535 C A SNP GAS6 ENST00000357389 human ensembl 69_37n -1 known missense c.823 p.D275Y 1.000 superfamily_ConA-like_lec_gl,smart_EGF-like_Ca-bd,smart_EGF-like pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 21 0 0.00 12 4 25.00 - - - GBP2 0 genome.wustl.edu 37 1 89573883 89573883 + Missense_Mutation SNP A A C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 89573883 89573883 A C SNP GBP2 ENST00000370466 human ensembl 69_37n -1 known missense c.1751 p.L584W 0.000 NULL pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP2 HGNC ENSG00000162645 146 0 0.00 98 11 10.09 - - - GCFC1 0 genome.wustl.edu 37 21 34123276 34123276 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 34123276 34123276 C T SNP GCFC1 ENST00000331923 human ensembl 69_37n -1 known missense c.1675 p.D559N 1.000 NULL pfam_GCFC_dom - no_errors GCFC1 HGNC ENSG00000159086 94 0 0.00 89 13 12.75 - - - GCLM 0 genome.wustl.edu 37 1 94354629 94354629 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 94354629 94354629 G T SNP GCLM ENST00000370238 human ensembl 69_37n -1 known missense c.742 p.L248M 0.994 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors GCLM HGNC ENSG00000023909 80 0 0.00 41 15 26.79 - - - GDI2 0 genome.wustl.edu 37 10 5827855 5827855 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 5827855 5827855 C G SNP GDI2 ENST00000380132 human ensembl 69_37n -1 known missense c.559 p.D187H 1.000 pfam_GDP_dissociation_inhibitor,prints_RabGDI pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI2 HGNC ENSG00000057608 60 0 0.00 62 21 25.30 - - - GDI2 0 genome.wustl.edu 37 10 5827883 5827883 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 5827883 5827883 C T SNP GDI2 ENST00000380132 human ensembl 69_37n -1 known silent c.531 p.K177 1.000 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI2 HGNC ENSG00000057608 77 0 0.00 71 25 26.04 - - - GFOD2 0 genome.wustl.edu 37 16 67709771 67709771 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 67709771 67709771 C T SNP GFOD2 ENST00000268797 human ensembl 69_37n -1 known missense c.445 p.D149N 1.000 NULL pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 44 0 0.00 11 4 26.67 - - - GHRHR 0 genome.wustl.edu 37 7 31018925 31018925 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 31018925 31018925 C T SNP GHRHR ENST00000463164 human ensembl 69_37n +1 putative rna NULL NULL 0.001 - - - no_errors GHRHR HGNC ENSG00000106128 22 0 0.00 13 6 31.58 - - - GID8 0 genome.wustl.edu 37 20 61572953 61572953 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 61572953 61572953 C T SNP GID8 ENST00000266069 human ensembl 69_37n +1 known silent c.99 p.I33 1.000 pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC ENSG00000101193 65 0 0.00 32 16 33.33 - - - GIMAP8 0 genome.wustl.edu 37 7 150174822 150174822 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 150174822 150174822 C T SNP GIMAP8 ENST00000307271 human ensembl 69_37n +1 known missense c.1952 p.S651F 0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP8 HGNC ENSG00000171115 33 0 0.00 22 9 29.03 - - - GIT2 0 genome.wustl.edu 37 12 110376308 110376308 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 110376308 110376308 G A SNP GIT2 ENST00000355312 human ensembl 69_37n -1 known missense c.1880 p.A627V 0.225 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 122 0 0.00 70 25 26.32 - - - GLRB 0 genome.wustl.edu 37 4 157999256 157999256 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 157999256 157999256 C T SNP GLRB ENST00000264428 human ensembl 69_37n +1 known missense c.80 p.S27L 1.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 95 0 0.00 70 27 27.55 - - - GNA12 0 genome.wustl.edu 37 7 2771046 2771046 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 2771046 2771046 C T SNP GNA12 ENST00000275364 human ensembl 69_37n -1 known silent c.915 p.V305 0.998 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA12 HGNC ENSG00000146535 34 0 0.00 29 11 27.50 - - - GNA12 0 genome.wustl.edu 37 7 2771197 2771197 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 2771197 2771197 C T SNP GNA12 ENST00000275364 human ensembl 69_37n -1 known missense c.764 p.S255N 0.981 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA12 HGNC ENSG00000146535 43 0 0.00 22 8 26.67 - - - GNPTG 0 genome.wustl.edu 37 16 1412861 1412861 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 1412861 1412861 G A SNP GNPTG ENST00000204679 human ensembl 69_37n +1 known silent c.777 p.L259 0.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC ENSG00000090581 45 0 0.00 31 7 18.42 - - - GOLGA4 0 genome.wustl.edu 37 3 37388711 37388711 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 37388711 37388711 C A SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known nonsense c.6500 p.S2167* 0.997 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 115 0 0.00 108 16 12.80 - - - GPATCH1 0 genome.wustl.edu 37 19 33572169 33572169 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 33572169 33572169 G C SNP GPATCH1 ENST00000170564 human ensembl 69_37n +1 known missense c.70 p.E24Q 1.000 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 29 0 0.00 23 11 32.35 - - - GPR158 0 genome.wustl.edu 37 10 25701277 25701277 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 25701277 25701277 G T SNP GPR158 ENST00000376351 human ensembl 69_37n +1 known missense c.1210 p.D404Y 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 65 0 0.00 52 12 18.75 - - - GPR161 0 genome.wustl.edu 37 1 168073859 168073859 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 168073859 168073859 G A SNP GPR161 ENST00000537209 human ensembl 69_37n -1 known missense c.290 p.S97F 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 105 0 0.00 82 16 16.33 - - - GPRIN2 0 genome.wustl.edu 37 10 46999421 46999421 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 46999421 46999421 G A SNP GPRIN2 ENST00000374314 human ensembl 69_37n +1 known missense c.541 p.E181K 0.043 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 37 0 0.00 14 4 21.05 - - - GPSM2 0 genome.wustl.edu 37 1 109457025 109457025 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 109457025 109457025 G A SNP GPSM2 ENST00000264126 human ensembl 69_37n +1 known missense c.1258 p.E420K 1.000 NULL pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 63 0 0.00 26 17 39.53 - - - GRHL2 0 genome.wustl.edu 37 8 102631887 102631887 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 102631887 102631887 C G SNP GRHL2 ENST00000251808 human ensembl 69_37n +1 known missense c.1219 p.H407D 1.000 pfam_CP2 pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 66 0 0.00 64 21 24.71 - - - GRHPR 0 genome.wustl.edu 37 9 37426094 37426094 + RNA SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 37426094 37426094 G A SNP GRHPR ENST00000487399 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors GRHPR HGNC ENSG00000137106 27 0 0.00 13 6 31.58 - - - GRM1 0 genome.wustl.edu 37 6 146678690 146678690 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 146678690 146678690 G A SNP GRM1 ENST00000282753 human ensembl 69_37n +1 known missense c.1462 p.E488K 0.959 prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C - no_errors GRM1 HGNC ENSG00000152822 65 0 0.00 49 24 32.88 - - - GRM5 0 genome.wustl.edu 37 11 88338035 88338035 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 88338035 88338035 C G SNP GRM5 ENST00000305447 human ensembl 69_37n -1 known missense c.1245 p.Q415H 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1 - no_errors GRM5 HGNC ENSG00000168959 55 0 0.00 33 17 33.33 - - - GSR 0 genome.wustl.edu 37 8 30553959 30553959 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 30553959 30553959 C A SNP GSR ENST00000221130 human ensembl 69_37n -1 known nonsense c.733 p.E245* 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 60 0 0.00 35 6 14.63 - - - GTF2IRD1 0 genome.wustl.edu 37 7 73938400 73938400 + Splice_Site SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 73938400 73938400 G A SNP GTF2IRD1 ENST00000265755 human ensembl 69_37n +1 known splice_site c.1007-1 e7-1 1.000 - - - no_errors GTF2IRD1 HGNC ENSG00000006704 42 0 0.00 35 5 12.50 - - - GTF2IRD2B 0 genome.wustl.edu 37 7 74536717 74536717 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 74536717 74536717 G A SNP GTF2IRD2B ENST00000312575 human ensembl 69_37n +1 known silent c.264 p.V88 0.015 NULL pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 21 0 0.00 19 4 17.39 - - - GTPBP3 0 genome.wustl.edu 37 19 17449538 17449538 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 17449538 17449538 G C SNP GTPBP3 ENST00000358792 human ensembl 69_37n +1 known missense c.579 p.E193D 0.165 NULL pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 40 0 0.00 10 5 33.33 - - - GTPBP6 0 genome.wustl.edu 37 X 229514 229514 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 229514 229514 G A SNP GTPBP6 ENST00000326153 human ensembl 69_37n -1 known missense c.148 p.R50C 0.005 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N - no_start_codon GTPBP6 HGNC ENSG00000178605 43 0 0.00 14 6 30.00 - - - HACE1 0 genome.wustl.edu 37 6 105291170 105291170 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 105291170 105291170 C A SNP HACE1 ENST00000262903 human ensembl 69_37n -1 known missense c.330 p.Q110H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 69 0 0.00 60 13 17.81 - - - HBP1 0 genome.wustl.edu 37 7 106840607 106840607 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 106840607 106840607 C G SNP HBP1 ENST00000222574 human ensembl 69_37n +1 known missense c.1388 p.A463G 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Ataxin-1_HBP1,pfam_HMG_superfamily,superfamily_Ataxin-1_HBP1,superfamily_HMG_superfamily,smart_Ataxin_AXH_dom,smart_HMG_superfamily,pfscan_Ataxin-1_HBP1,pfscan_HMG_superfamily - no_errors HBP1 HGNC ENSG00000105856 110 0 0.00 91 31 25.41 - - - HCST 0 genome.wustl.edu 37 19 36394703 36394703 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 36394703 36394703 C T SNP HCST ENST00000246551 human ensembl 69_37n +1 known silent c.139 p.L47 0.061 pfam_DAP10 pfam_DAP10 - no_errors HCST HGNC ENSG00000126264 31 0 0.00 13 5 27.78 - - - HDX 0 genome.wustl.edu 37 X 83724310 83724310 + Missense_Mutation SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 83724310 83724310 T G SNP HDX ENST00000297977 human ensembl 69_37n -1 known missense c.421 p.T141P 0.965 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC ENSG00000165259 243 0 0.00 129 41 24.12 - - - HEATR7B2 0 genome.wustl.edu 37 5 41065478 41065478 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 41065478 41065478 C T SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.316 p.D106N 0.090 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 69 0 0.00 61 7 10.29 - - - HECTD3 0 genome.wustl.edu 37 1 45474006 45474006 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 45474006 45474006 G C SNP HECTD3 ENST00000372168 human ensembl 69_37n -1 known missense c.56 p.S19C 0.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 68 0 0.00 33 11 25.00 - - - HELZ 0 genome.wustl.edu 37 17 65147231 65147231 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 65147231 65147231 G A SNP HELZ ENST00000358691 human ensembl 69_37n -1 known missense c.2287 p.L763F 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 78 0 0.00 111 19 14.62 - - - HERC1 0 genome.wustl.edu 37 15 63964894 63964894 + Splice_Site SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 63964894 63964894 C G SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known splice_site c.7847-1 e38-1 1.000 - - - no_errors HERC1 HGNC ENSG00000103657 65 0 0.00 55 21 27.63 - - - HERC1 0 genome.wustl.edu 37 15 64017704 64017704 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 64017704 64017704 C T SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.3355 p.E1119K 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 35 0 0.00 26 11 29.73 - - - HERC2 0 genome.wustl.edu 37 15 28517375 28517375 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 28517375 28517375 C T SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.1069 p.E357K 0.993 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 41 0 0.00 33 5 13.16 - - - HEXB 0 genome.wustl.edu 37 5 74017042 74017042 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 74017042 74017042 C G SNP HEXB ENST00000513539 human ensembl 69_37n +1 known rna NULL NULL 0.616 - - - no_errors HEXB HGNC ENSG00000049860 25 0 0.00 50 10 16.67 - - - HEXDC 0 genome.wustl.edu 37 17 80386446 80386446 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 80386446 80386446 C G SNP HEXDC ENST00000578775 human ensembl 69_37n +1 known nonsense c.188 p.S63* 0.049 NULL NULL - no_start_codon HEXDC HGNC ENSG00000169660 83 0 0.00 58 7 10.77 - - - HGSNAT 0 genome.wustl.edu 37 8 43033331 43033331 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 43033331 43033331 C T SNP HGSNAT ENST00000458501 human ensembl 69_37n +1 known silent c.1050 p.I350 0.061 pfam_DUF1624 pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 179 0 0.00 150 47 23.62 - - - HIST3H2BB 0 genome.wustl.edu 37 1 228646044 228646044 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 228646044 228646044 G A SNP HIST3H2BB ENST00000369160 human ensembl 69_37n +1 known missense c.214 p.E72K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST3H2BB HGNC ENSG00000196890 101 0 0.00 84 19 18.45 - - - HLA-DQA2 0 genome.wustl.edu 37 6 32709262 32709262 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 32709262 32709262 G A SNP HLA-DQA2 ENST00000374940 human ensembl 69_37n +1 known silent c.42 p.L14 0.191 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA2 HGNC ENSG00000237541 119 0 0.00 85 28 24.78 - - - HMCN1 0 genome.wustl.edu 37 1 186120829 186120829 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 186120829 186120829 C T SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known silent c.14850 p.L4950 1.000 pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 52 0 0.00 63 10 13.70 - - - HNRNPU 0 genome.wustl.edu 37 1 245019359 245019359 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 245019359 245019359 C G SNP HNRNPU ENST00000283179 human ensembl 69_37n -1 known missense c.2014 p.E672Q 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC ENSG00000153187 156 0 0.00 155 48 23.65 - - - HNRNPU 0 genome.wustl.edu 37 1 245020994 245020994 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 245020994 245020994 C T SNP HNRNPU ENST00000283179 human ensembl 69_37n -1 known missense c.1520 p.G507E 1.000 pfam_Zeta_toxin_domain pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC ENSG00000153187 93 0 0.00 82 21 20.39 - - - HNRPLL 0 genome.wustl.edu 37 2 38829676 38829676 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 38829676 38829676 C T SNP HNRPLL ENST00000449105 human ensembl 69_37n -1 known silent c.93 p.E31 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRPLL HGNC ENSG00000143889 29 0 0.00 8 5 38.46 - - - HNRPLL 0 genome.wustl.edu 37 2 38829687 38829687 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 38829687 38829687 C T SNP HNRPLL ENST00000449105 human ensembl 69_37n -1 known missense c.82 p.E28K 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRPLL HGNC ENSG00000143889 28 0 0.00 9 5 35.71 - - - HOXD4 0 genome.wustl.edu 37 2 177016487 177016487 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 177016487 177016487 G C SNP HOXD4 ENST00000306324 human ensembl 69_37n +1 known missense c.126 p.Q42H 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC ENSG00000170166 8 0 0.00 3 4 57.14 - - - HP1BP3 0 genome.wustl.edu 37 1 21076289 21076289 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 21076289 21076289 C T SNP HP1BP3 ENST00000312239 human ensembl 69_37n -1 known silent c.1068 p.P356 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5 pfam_Histone_H1/H5,smart_Histone_H1/H5 - no_errors HP1BP3 HGNC ENSG00000127483 94 0 0.00 42 9 17.65 - - - HPS4 0 genome.wustl.edu 37 22 26859979 26859979 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 26859979 26859979 C T SNP HPS4 ENST00000398141 human ensembl 69_37n -1 known silent c.1656 p.V552 0.522 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 39 0 0.00 15 6 28.57 - - - HPSE2 0 genome.wustl.edu 37 10 100503657 100503657 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 100503657 100503657 G C SNP HPSE2 ENST00000370552 human ensembl 69_37n -1 known missense c.767 p.S256C 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 62 0 0.00 58 22 27.16 - - - HTR2C 0 genome.wustl.edu 37 X 114141977 114141977 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 114141977 114141977 G A SNP HTR2C ENST00000276198 human ensembl 69_37n +1 known silent c.1376 p.*459 0.900 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 31 0 0.00 18 12 40.00 - - - HTT 0 genome.wustl.edu 37 4 3190748 3190748 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 3190748 3190748 G A SNP HTT ENST00000355072 human ensembl 69_37n +1 known missense c.5296 p.E1766K 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 116 0 0.00 71 33 31.73 - - - HYDIN 0 genome.wustl.edu 37 16 71098709 71098709 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 71098709 71098709 C G SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.2110 p.E704Q 0.963 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 86 0 0.00 27 13 31.71 - - - IBSP 0 genome.wustl.edu 37 4 88723881 88723881 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 88723881 88723881 C T SNP IBSP ENST00000226284 human ensembl 69_37n +1 known nonsense c.181 p.Q61* 0.995 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 40 0 0.00 41 9 18.00 - - - IDE 0 genome.wustl.edu 37 10 94291539 94291539 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 94291539 94291539 C T SNP IDE ENST00000265986 human ensembl 69_37n -1 known silent c.627 p.G209 0.988 pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 75 0 0.00 61 19 23.46 - - - IDI1 0 genome.wustl.edu 37 10 1089321 1089321 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 1089321 1089321 C T SNP IDI1 ENST00000381344 human ensembl 69_37n -1 known missense c.326 p.R109Q 1.000 pfam_NUDIX_hydrolase_dom,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 IDI1 HGNC ENSG00000067064 70 0 0.00 59 18 23.38 - - - IGF2R 0 genome.wustl.edu 37 6 160482885 160482885 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 160482885 160482885 C T SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known silent c.3507 p.I1169 0.425 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 67 0 0.00 51 28 35.00 - - - IGHV3-13 0 genome.wustl.edu 37 14 106586182 106586182 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 106586182 106586182 C T SNP IGHV3-13 ENST00000390602 human ensembl 69_37n -1 known missense c.303 p.M101I 0.827 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-13 HGNC ENSG00000211942 65 0 0.00 55 25 30.86 - - - IL12A 0 genome.wustl.edu 37 3 159713202 159713202 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 159713202 159713202 C T SNP IL12A ENST00000305579 human ensembl 69_37n +1 known silent c.618 p.F206 0.019 pfam_IL12,superfamily_4_helix_cytokine-like_core pfam_IL12,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC ENSG00000168811 72 0 0.00 45 18 28.57 - - - IL16 0 genome.wustl.edu 37 15 81591674 81591674 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 81591674 81591674 C A SNP IL16 ENST00000558857 human ensembl 69_37n +1 known missense c.121 p.H41N 0.000 NULL NULL - no_start_codon IL16 HGNC ENSG00000172349 19 0 0.00 19 8 29.63 - - - IL1RAP 0 genome.wustl.edu 37 3 190373869 190373869 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 190373869 190373869 C G SNP IL1RAP ENST00000443369 human ensembl 69_37n +1 known missense c.1537 p.L513V 0.847 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC ENSG00000196083 44 0 0.00 44 10 18.18 - - - INTS10 0 genome.wustl.edu 37 8 19703292 19703292 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 19703292 19703292 C G SNP INTS10 ENST00000397977 human ensembl 69_37n +1 known missense c.1960 p.Q654E 1.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 81 0 0.00 51 24 32.00 - - - INTS12 0 genome.wustl.edu 37 4 106604111 106604111 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 106604111 106604111 G A SNP INTS12 ENST00000340139 human ensembl 69_37n -1 known missense c.1168 p.P390S 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 88 0 0.00 77 25 24.51 - - - IPP 0 genome.wustl.edu 37 1 46195372 46195372 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 46195372 46195372 G C SNP IPP ENST00000396478 human ensembl 69_37n -1 known missense c.794 p.S265C 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 IPP HGNC ENSG00000197429 116 0 0.00 81 12 12.90 - - - IQCH 0 genome.wustl.edu 37 15 67692531 67692531 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 67692531 67692531 G A SNP IQCH ENST00000335894 human ensembl 69_37n +1 known missense c.1985 p.R662Q 1.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 92 0 0.00 79 31 28.18 - - - IQGAP3 0 genome.wustl.edu 37 1 156521568 156521568 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 156521568 156521568 C G SNP IQGAP3 ENST00000361170 human ensembl 69_37n -1 known missense c.1663 p.D555H 0.703 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,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 57 0 0.00 46 7 13.21 - - - IREB2 0 genome.wustl.edu 37 15 78778155 78778155 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 78778155 78778155 G C SNP IREB2 ENST00000258886 human ensembl 69_37n +1 known missense c.1682 p.G561A 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,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 66 0 0.00 60 24 28.57 - - - ISL1 0 genome.wustl.edu 37 5 50685717 50685717 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 50685717 50685717 G A SNP ISL1 ENST00000230658 human ensembl 69_37n +1 known missense c.716 p.R239Q 0.997 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL1 HGNC ENSG00000016082 38 0 0.00 25 6 19.35 - - - ITGA2 0 genome.wustl.edu 37 5 52370939 52370939 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 52370939 52370939 C G SNP ITGA2 ENST00000296585 human ensembl 69_37n +1 known missense c.2713 p.Q905E 0.930 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGA2 HGNC ENSG00000164171 83 0 0.00 85 39 31.45 - - - ITGAL 0 genome.wustl.edu 37 16 30495230 30495230 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 30495230 30495230 G A SNP ITGAL ENST00000356798 human ensembl 69_37n +1 known missense c.805 p.D269N 0.992 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 38 0 0.00 19 6 24.00 - - - ITGB2 0 genome.wustl.edu 37 21 46311909 46311909 + Silent SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 46311909 46311909 G T SNP ITGB2 ENST00000302347 human ensembl 69_37n -1 known silent c.1227 p.I409 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 36 0 0.00 18 5 21.74 - - - ITPR2 0 genome.wustl.edu 37 12 26647139 26647139 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 26647139 26647139 C T SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.5317 p.E1773K 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 52 0 0.00 53 20 27.40 - - - ITSN1 0 genome.wustl.edu 37 21 35122544 35122544 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 35122544 35122544 C G SNP ITSN1 ENST00000381285 human ensembl 69_37n +1 known missense c.443 p.S148C 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ITSN1 HGNC ENSG00000205726 74 0 0.00 55 9 14.06 - - - IWS1 0 genome.wustl.edu 37 2 128261086 128261086 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 128261086 128261086 G T SNP IWS1 ENST00000295321 human ensembl 69_37n -1 known nonsense c.1286 p.S429* 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 128 0 0.00 80 21 20.79 - - - JAG1 0 genome.wustl.edu 37 20 10621580 10621580 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 10621580 10621580 G A SNP JAG1 ENST00000254958 human ensembl 69_37n -1 known missense c.3050 p.S1017F 1.000 NULL pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 73 0 0.00 48 17 26.15 - - - JAK3 0 genome.wustl.edu 37 19 17950341 17950341 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 17950341 17950341 C T SNP JAK3 ENST00000458235 human ensembl 69_37n -1 known silent c.1386 p.L462 0.175 smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 26 0 0.00 21 6 22.22 - - - KANK4 0 genome.wustl.edu 37 1 62734158 62734158 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 62734158 62734158 C T SNP KANK4 ENST00000371153 human ensembl 69_37n -1 known missense c.2032 p.E678K 1.000 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 37 0 0.00 32 14 30.43 - - - KBTBD8 0 genome.wustl.edu 37 3 67053917 67053917 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 67053917 67053917 C T SNP KBTBD8 ENST00000417314 human ensembl 69_37n +1 known missense c.526 p.R176C 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,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 KBTBD8 HGNC ENSG00000163376 29 0 0.00 29 8 21.62 - - - KCNA2 0 genome.wustl.edu 37 1 111147111 111147111 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 111147111 111147111 C G SNP KCNA2 ENST00000316361 human ensembl 69_37n -1 known missense c.294 p.L98F 0.998 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC ENSG00000177301 26 0 0.00 17 7 28.00 - - - KCNA4 0 genome.wustl.edu 37 11 30033212 30033212 + Silent SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 30033212 30033212 G T SNP KCNA4 ENST00000328224 human ensembl 69_37n -1 known silent c.1014 p.L338 0.060 NULL pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 26 0 0.00 22 6 20.69 - - - KCNA7 0 genome.wustl.edu 37 19 49574011 49574011 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 49574011 49574011 C T SNP KCNA7 ENST00000221444 human ensembl 69_37n -1 known missense c.680 p.R227H 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 67 0 0.00 40 15 26.79 - - - KCNH1 0 genome.wustl.edu 37 1 211192458 211192458 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 211192458 211192458 G C SNP KCNH1 ENST00000271751 human ensembl 69_37n -1 known missense c.699 p.I233M 1.000 prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,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 55 0 0.00 55 13 18.84 - - - KCNIP4 0 genome.wustl.edu 37 4 20852249 20852249 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 20852249 20852249 G A SNP KCNIP4 ENST00000382150 human ensembl 69_37n -1 known missense c.142 p.R48W 1.000 prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP4 HGNC ENSG00000185774 57 0 0.00 34 13 27.66 - - - KCNMB3 0 genome.wustl.edu 37 3 178968844 178968844 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 178968844 178968844 G A SNP KCNMB3 ENST00000314235 human ensembl 69_37n -1 known silent c.48 p.F16 0.000 NULL pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB3 HGNC ENSG00000171121 70 0 0.00 66 25 27.47 - - - KCNV2 0 genome.wustl.edu 37 9 2729535 2729535 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 2729535 2729535 C T SNP KCNV2 ENST00000382082 human ensembl 69_37n +1 known silent c.1446 p.I482 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 60 0 0.00 42 14 24.56 - - - KCTD20 0 genome.wustl.edu 37 6 36446965 36446965 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 36446965 36446965 G A SNP KCTD20 ENST00000373731 human ensembl 69_37n +1 known missense c.502 p.E168K 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 KCTD20 HGNC ENSG00000112078 52 0 0.00 30 17 36.17 - - - KCTD21 0 genome.wustl.edu 37 11 77885525 77885525 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 77885525 77885525 C T SNP KCTD21 ENST00000340067 human ensembl 69_37n -1 known missense c.76 p.D26N 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 42 0 0.00 47 9 16.07 - - - KCTD3 0 genome.wustl.edu 37 1 215792602 215792602 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 215792602 215792602 C T SNP KCTD3 ENST00000259154 human ensembl 69_37n +1 known nonsense c.1855 p.Q619* 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 77 0 0.00 49 12 19.67 - - - KDM2A 0 genome.wustl.edu 37 11 67013375 67013375 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 67013375 67013375 C T SNP KDM2A ENST00000534486 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors KDM2A HGNC ENSG00000173120 24 0 0.00 20 8 28.57 - - - KDM4A 0 genome.wustl.edu 37 1 44134883 44134883 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 44134883 44134883 G C SNP KDM4A ENST00000372396 human ensembl 69_37n +1 known missense c.1276 p.E426Q 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 57 0 0.00 28 11 28.21 - - - KDM5B 0 genome.wustl.edu 37 1 202698837 202698837 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 202698837 202698837 C A SNP KDM5B ENST00000367265 human ensembl 69_37n -1 known nonsense c.4495 p.E1499* 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 59 0 0.00 49 16 24.62 - - - KIAA0232 0 genome.wustl.edu 37 4 6864958 6864958 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 6864958 6864958 C T SNP KIAA0232 ENST00000307659 human ensembl 69_37n +1 known missense c.2849 p.P950L 0.999 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 48 0 0.00 47 13 21.67 - - - KIAA0355 0 genome.wustl.edu 37 19 34832394 34832394 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 34832394 34832394 G T SNP KIAA0355 ENST00000299505 human ensembl 69_37n +1 known missense c.1555 p.D519Y 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 42 0 0.00 26 11 29.73 - - - KIAA1109 0 genome.wustl.edu 37 4 123132205 123132205 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 123132205 123132205 G C SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.2202 p.Q734H 0.949 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 89 0 0.00 67 36 34.95 - - - KIAA1199 0 genome.wustl.edu 37 15 81217032 81217032 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 81217032 81217032 C T SNP KIAA1199 ENST00000220244 human ensembl 69_37n +1 known missense c.2273 p.S758L 0.998 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 88 0 0.00 42 8 16.00 - - - KIAA1244 0 genome.wustl.edu 37 6 138584527 138584527 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 138584527 138584527 C T SNP KIAA1244 ENST00000251691 human ensembl 69_37n +1 known missense c.1907 p.S636L 1.000 superfamily_ARM-type_fold,smart_Sec7 pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 38 0 0.00 23 10 30.30 - - - KIAA1257 0 genome.wustl.edu 37 3 128696921 128696921 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 128696921 128696921 C G SNP KIAA1257 ENST00000265068 human ensembl 69_37n -1 known missense c.775 p.E259Q 0.016 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 221 0 0.00 162 61 27.35 - - - KIAA1467 0 genome.wustl.edu 37 12 13221368 13221368 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 13221368 13221368 C G SNP KIAA1467 ENST00000197268 human ensembl 69_37n +1 known missense c.1273 p.Q425E 0.017 NULL superfamily_Quinonprotein_ADH-like - no_errors KIAA1467 HGNC ENSG00000084444 62 0 0.00 44 7 13.73 - - - KIAA1549L 0 genome.wustl.edu 37 11 33565327 33565327 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 33565327 33565327 C G SNP KIAA1549L ENST00000389726 human ensembl 69_37n +1 known missense c.1327 p.P443A 0.001 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 60 0 0.00 38 11 22.45 - - - KIAA1755 0 genome.wustl.edu 37 20 36856635 36856635 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 36856635 36856635 C T SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known missense c.1879 p.D627N 0.997 superfamily_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 33 0 0.00 22 6 21.43 - - - KIAA1755 0 genome.wustl.edu 37 20 36870061 36870061 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 36870061 36870061 C G SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known missense c.472 p.E158Q 0.867 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 86 0 0.00 39 16 28.57 - - - KIF15 0 genome.wustl.edu 37 3 44867541 44867541 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 44867541 44867541 G A SNP KIF15 ENST00000326047 human ensembl 69_37n +1 known missense c.2560 p.E854K 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 46 0 0.00 39 10 20.41 - - - KIF18A 0 genome.wustl.edu 37 11 28116237 28116237 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 28116237 28116237 C T SNP KIF18A ENST00000263181 human ensembl 69_37n -1 known missense c.436 p.E146K 0.999 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 75 0 0.00 79 10 11.11 - - - KIF4A 0 genome.wustl.edu 37 X 69572501 69572501 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 69572501 69572501 G A SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known missense c.1483 p.E495K 0.997 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 114 0 0.00 52 10 15.87 - - - KIFC1 0 genome.wustl.edu 37 6 33377466 33377466 + Nonstop_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 33377466 33377466 G T SNP KIFC1 ENST00000428849 human ensembl 69_37n +1 known nonstop c.2021 p.*674L 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 58 0 0.00 23 9 28.12 - - - KLF7 0 genome.wustl.edu 37 2 207945972 207945972 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 207945972 207945972 C G SNP KLF7 ENST00000309446 human ensembl 69_37n -1 known missense c.874 p.D292H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF7 HGNC ENSG00000118263 73 0 0.00 57 19 25.00 - - - KLHL4 0 genome.wustl.edu 37 X 86773201 86773201 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 86773201 86773201 C G SNP KLHL4 ENST00000373114 human ensembl 69_37n +1 known missense c.305 p.A102G 0.999 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 47 0 0.00 27 8 22.86 - - - KLHL8 0 genome.wustl.edu 37 4 88085091 88085091 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 88085091 88085091 C T SNP KLHL8 ENST00000273963 human ensembl 69_37n -1 known missense c.1678 p.G560S 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,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 KLHL8 HGNC ENSG00000145332 89 0 0.00 44 20 31.25 - - - KLHL8 0 genome.wustl.edu 37 4 88106843 88106843 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 88106843 88106843 C G SNP KLHL8 ENST00000273963 human ensembl 69_37n -1 known missense c.325 p.E109Q 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_Kelch_2,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 KLHL8 HGNC ENSG00000145332 35 0 0.00 28 7 20.00 - - - KNTC1 0 genome.wustl.edu 37 12 123065155 123065155 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 123065155 123065155 C G SNP KNTC1 ENST00000333479 human ensembl 69_37n +1 known missense c.2920 p.L974V 0.772 superfamily_PAH pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 51 0 0.00 44 25 36.23 - - - KPNA5 0 genome.wustl.edu 37 6 117046930 117046930 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 117046930 117046930 C G SNP KPNA5 ENST00000356348 human ensembl 69_37n +1 known missense c.1016 p.S339C 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 75 0 0.00 53 20 27.40 - - - KRBA1 0 genome.wustl.edu 37 7 149421749 149421749 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 149421749 149421749 G T SNP KRBA1 ENST00000255992 human ensembl 69_37n +1 known missense c.935 p.G312V 0.002 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 33 0 0.00 21 5 19.23 - - - KRT222 0 genome.wustl.edu 37 17 38816249 38816249 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 38816249 38816249 C G SNP KRT222 ENST00000394052 human ensembl 69_37n -1 known missense c.436 p.E146Q 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 136 0 0.00 115 39 25.16 - - - KRT24 0 genome.wustl.edu 37 17 38859392 38859392 + Missense_Mutation SNP T T A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 38859392 38859392 T A SNP KRT24 ENST00000264651 human ensembl 69_37n -1 known missense c.554 p.D185V 0.003 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 105 0 0.00 91 21 18.75 - - - KRT76 0 genome.wustl.edu 37 12 53165956 53165956 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 53165956 53165956 G A SNP KRT76 ENST00000332411 human ensembl 69_37n -1 known silent c.1059 p.I353 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 79 0 0.00 58 7 10.45 - - - KRTAP13-4 0 genome.wustl.edu 37 21 31802938 31802938 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 31802938 31802938 G A SNP KRTAP13-4 ENST00000334068 human ensembl 69_37n +1 known silent c.345 p.L115 0.000 pfam_PMG pfam_PMG - no_errors KRTAP13-4 HGNC ENSG00000186971 95 0 0.00 79 26 24.53 - - - KRTAP9-8 0 genome.wustl.edu 37 17 39394360 39394360 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 39394360 39394360 G C SNP KRTAP9-8 ENST00000254072 human ensembl 69_37n +1 known missense c.57 p.W19C 0.012 NULL NULL - no_errors KRTAP9-8 HGNC ENSG00000187272 130 0 0.00 73 15 17.05 - - - KTN1 0 genome.wustl.edu 37 14 56101368 56101368 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 56101368 56101368 C T SNP KTN1 ENST00000395309 human ensembl 69_37n +1 known nonsense c.1453 p.Q485* 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 26 0 0.00 31 7 18.42 - - - KYNU 0 genome.wustl.edu 37 2 143799654 143799654 + Silent SNP A A C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 143799654 143799654 A C SNP KYNU ENST00000264170 human ensembl 69_37n +1 known silent c.1311 p.P437 0.676 superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 139 1 0.71 86 17 16.50 - - - L3MBTL1 0 genome.wustl.edu 37 20 42169646 42169646 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 42169646 42169646 G C SNP L3MBTL1 ENST00000418998 human ensembl 69_37n +1 known missense c.2401 p.V801L 0.000 superfamily_SAM/pointed pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 78 0 0.00 60 8 11.76 - - - LAMA1 0 genome.wustl.edu 37 18 6965413 6965413 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 6965413 6965413 C G SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known missense c.7069 p.E2357Q 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G 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,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 62 0 0.00 42 13 23.64 - - - LARP4B 0 genome.wustl.edu 37 10 890933 890933 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 890933 890933 C T SNP LARP4B ENST00000316157 human ensembl 69_37n -1 known missense c.493 p.E165K 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 96 0 0.00 90 25 21.55 - - - LARP4B 0 genome.wustl.edu 37 10 890992 890992 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 890992 890992 C A SNP LARP4B ENST00000316157 human ensembl 69_37n -1 known missense c.434 p.G145V 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 91 0 0.00 64 33 33.33 - - - LGALS3 0 genome.wustl.edu 37 14 55611885 55611885 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 55611885 55611885 C T SNP LGALS3 ENST00000254301 human ensembl 69_37n +1 known missense c.649 p.H217Y 0.991 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS3 HGNC ENSG00000131981 52 0 0.00 59 7 10.61 - - - LGALS9 0 genome.wustl.edu 37 17 25974091 25974091 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 25974091 25974091 G A SNP LGALS9 ENST00000581710 human ensembl 69_37n +1 novel missense c.280 p.V94I 0.993 superfamily_ConA-like_lec_gl pfam_Galectin_CRD,superfamily_ConA-like_lec_gl - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LGALS9 HGNC ENSG00000168961 102 0 0.00 52 21 28.77 - - - LHCGR 0 genome.wustl.edu 37 2 48915041 48915041 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 48915041 48915041 C G SNP LHCGR ENST00000294954 human ensembl 69_37n -1 known missense c.1895 p.R632T 1.000 prints_Gphrmn_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors LHCGR HGNC ENSG00000138039 25 0 0.00 29 7 19.44 - - - LILRB3 0 genome.wustl.edu 37 19 54745967 54745967 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 54745967 54745967 C G SNP LILRB3 ENST00000407860 human ensembl 69_37n -1 known missense c.290 p.R97P 0.000 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB3 HGNC ENSG00000204577 323 0 0.00 242 46 15.97 - - - LIN7A 0 genome.wustl.edu 37 12 81205439 81205439 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 81205439 81205439 C G SNP LIN7A ENST00000552864 human ensembl 69_37n -1 known missense c.507 p.E169D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 69 0 0.00 54 15 21.74 - - - LIPN 0 genome.wustl.edu 37 10 90521981 90521981 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 90521981 90521981 G C SNP LIPN ENST00000404459 human ensembl 69_37n +1 known missense c.145 p.E49Q 1.000 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPN HGNC ENSG00000204020 73 0 0.00 31 13 28.89 - - - LMTK2 0 genome.wustl.edu 37 7 97816228 97816228 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 97816228 97816228 C T SNP LMTK2 ENST00000297293 human ensembl 69_37n +1 known silent c.916 p.L306 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 78 0 0.00 72 15 17.05 - - - LONRF2 0 genome.wustl.edu 37 2 100911929 100911929 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 100911929 100911929 C G SNP LONRF2 ENST00000393437 human ensembl 69_37n -1 known missense c.1563 p.K521N 1.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 125 0 0.00 63 19 23.17 - - - LOX 0 genome.wustl.edu 37 5 121412813 121412813 + RNA SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 121412813 121412813 G C SNP LOX ENST00000513319 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LOX HGNC ENSG00000113083 10 0 0.00 6 4 40.00 - - - LRBA 0 genome.wustl.edu 37 4 151511904 151511904 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 151511904 151511904 G A SNP LRBA ENST00000357115 human ensembl 69_37n -1 known silent c.6187 p.L2063 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 84 0 0.00 53 9 14.52 - - - LRFN4 0 genome.wustl.edu 37 11 66627650 66627650 + Missense_Mutation SNP A A G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 66627650 66627650 A G SNP LRFN4 ENST00000309602 human ensembl 69_37n +1 known missense c.1892 p.E631G 0.822 NULL 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,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN4 HGNC ENSG00000173621 42 0 0.00 13 5 27.78 - - - LRP2 0 genome.wustl.edu 37 2 169995791 169995791 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 169995791 169995791 G C SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.13358 p.S4453C 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 32 0 0.00 32 13 28.89 - - - LRP4 0 genome.wustl.edu 37 11 46920202 46920202 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 46920202 46920202 C A SNP LRP4 ENST00000378623 human ensembl 69_37n -1 known nonsense c.703 p.E235* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 42 0 0.00 22 6 21.43 - - - LRP6 0 genome.wustl.edu 37 12 12315287 12315287 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 12315287 12315287 G C SNP LRP6 ENST00000261349 human ensembl 69_37n -1 known missense c.2119 p.P707A 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_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_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 57 0 0.00 54 9 14.29 - - - LRRC16A 0 genome.wustl.edu 37 6 25471441 25471441 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 25471441 25471441 C T SNP LRRC16A ENST00000377969 human ensembl 69_37n +1 known silent c.252 p.S84 1.000 NULL NULL - no_errors LRRC16A HGNC ENSG00000079691 107 0 0.00 74 26 25.74 - - - LRRC16B 0 genome.wustl.edu 37 14 24534912 24534912 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 24534912 24534912 C T SNP LRRC16B ENST00000342740 human ensembl 69_37n +1 known missense c.3478 p.P1160S 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 45 0 0.00 38 16 29.09 - - - LRRC27 0 genome.wustl.edu 37 10 134151163 134151163 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 134151163 134151163 G C SNP LRRC27 ENST00000368613 human ensembl 69_37n +1 known missense c.305 p.R102T 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 77 0 0.00 64 26 28.89 - - - LRRC31 0 genome.wustl.edu 37 3 169569447 169569447 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 169569447 169569447 G C SNP LRRC31 ENST00000316428 human ensembl 69_37n -1 known missense c.1119 p.I373M 0.811 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 115 0 0.00 83 39 31.97 - - - LRRC37A4P 0 genome.wustl.edu 37 17 43587646 43587646 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 43587646 43587646 C T SNP LRRC37A4P ENST00000579913 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors LRRC37A4P HGNC ENSG00000214425 149 0 0.00 123 14 10.22 - - - LRRC37A4P 0 genome.wustl.edu 37 17 43587660 43587660 + Splice_Site SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 43587660 43587660 C A SNP LRRC37A4P ENST00000579913 human ensembl 69_37n -1 known splice_site c.NULL NULL 0.984 - - - no_errors LRRC37A4P HGNC ENSG00000214425 162 0 0.00 133 17 11.33 - - - LRRC8A 0 genome.wustl.edu 37 9 131670394 131670394 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 131670394 131670394 C G SNP LRRC8A ENST00000259324 human ensembl 69_37n +1 known silent c.951 p.L317 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 75 0 0.00 29 14 31.82 - - - LRRIQ1 0 genome.wustl.edu 37 12 85626496 85626496 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 85626496 85626496 G C SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.4978 p.D1660H 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 152 0 0.00 114 38 24.84 - - - LYPLA1 0 genome.wustl.edu 37 8 55013291 55013291 + RNA SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 55013291 55013291 G A SNP LYPLA1 ENST00000521856 human ensembl 69_37n -1 putative rna NULL NULL 0.058 - - - no_errors LYPLA1 HGNC ENSG00000120992 23 0 0.00 8 6 42.86 - - - LYST 0 genome.wustl.edu 37 1 235969147 235969147 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 235969147 235969147 C T SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.3289 p.E1097K 0.997 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 25 0 0.00 52 16 23.53 - - - LYZL1 0 genome.wustl.edu 37 10 29581479 29581479 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 29581479 29581479 C A SNP LYZL1 ENST00000375500 human ensembl 69_37n +1 known nonsense c.309 p.Y103* 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL1 HGNC ENSG00000120563 107 0 0.00 29 11 27.50 - - - MACF1 0 genome.wustl.edu 37 1 39853963 39853963 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 39853963 39853963 G A SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.9263 p.R3088K 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 44 0 0.00 43 6 12.24 - - - MACF1 0 genome.wustl.edu 37 1 39950348 39950348 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 39950348 39950348 G T SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.15982 p.D5328Y 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 46 0 0.00 36 16 30.77 - - - MAGEA12 0 genome.wustl.edu 37 X 151900474 151900474 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 151900474 151900474 G A SNP MAGEA12 ENST00000357916 human ensembl 69_37n -1 known silent c.327 p.L109 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 126 0 0.00 46 27 36.99 - - - MAGEE2 0 genome.wustl.edu 37 X 75003629 75003629 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 75003629 75003629 C G SNP MAGEE2 ENST00000373359 human ensembl 69_37n -1 known missense c.1258 p.E420Q 0.905 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 48 0 0.00 30 12 28.57 - - - MAN2A2 0 genome.wustl.edu 37 15 91453858 91453858 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 91453858 91453858 C T SNP MAN2A2 ENST00000360468 human ensembl 69_37n +1 known missense c.1705 p.H569Y 1.000 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 40 0 0.00 21 5 19.23 - - - MAP4K4 0 genome.wustl.edu 37 2 102472451 102472451 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 102472451 102472451 G C SNP MAP4K4 ENST00000324219 human ensembl 69_37n +1 known missense c.1246 p.E416Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC ENSG00000071054 84 0 0.00 70 23 24.73 - - - MAPKAP1 0 genome.wustl.edu 37 9 128347943 128347943 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 128347943 128347943 C T SNP MAPKAP1 ENST00000265960 human ensembl 69_37n -1 known missense c.562 p.D188N 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 100 0 0.00 44 11 20.00 - - - MAPT 0 genome.wustl.edu 37 17 44051778 44051778 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 44051778 44051778 G A SNP MAPT ENST00000344290 human ensembl 69_37n +1 known missense c.248 p.G83E 0.095 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC ENSG00000186868 24 0 0.00 20 7 25.93 - - - MAS1 0 genome.wustl.edu 37 6 160328830 160328830 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 160328830 160328830 C G SNP MAS1 ENST00000252660 human ensembl 69_37n +1 known missense c.843 p.F281L 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mas_TM,prints_7TM_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 39 0 0.00 30 9 23.08 - - - MBD4 0 genome.wustl.edu 37 3 129155812 129155812 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 129155812 129155812 G A SNP MBD4 ENST00000249910 human ensembl 69_37n -1 known silent c.675 p.F225 0.001 pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 94 0 0.00 73 27 26.47 - - - MBD5 0 genome.wustl.edu 37 2 149227744 149227744 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 149227744 149227744 G T SNP MBD5 ENST00000407073 human ensembl 69_37n +1 known missense c.2232 p.M744I 0.998 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 79 0 0.00 48 15 23.81 - - - MBD6 0 genome.wustl.edu 37 12 57919283 57919283 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 57919283 57919283 C G SNP MBD6 ENST00000355673 human ensembl 69_37n +1 known missense c.532 p.L178V 0.630 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 17 0 0.00 23 6 20.69 - - - MCF2 0 genome.wustl.edu 37 X 138698560 138698560 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 138698560 138698560 C T SNP MCF2 ENST00000370578 human ensembl 69_37n -1 known missense c.1507 p.D503N 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 32 0 0.00 16 10 37.04 - - - MCM4 0 genome.wustl.edu 37 8 48887472 48887472 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 48887472 48887472 C G SNP MCM4 ENST00000262105 human ensembl 69_37n +1 known missense c.2315 p.S772C 1.000 prints_MCM_4 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 64 0 0.00 49 17 25.76 - - - MCMBP 0 genome.wustl.edu 37 10 121618682 121618682 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 121618682 121618682 C T SNP MCMBP ENST00000360003 human ensembl 69_37n -1 known silent c.156 p.L52 0.998 NULL pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 37 0 0.00 23 11 32.35 - - - MCOLN1 0 genome.wustl.edu 37 19 7589965 7589965 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 7589965 7589965 G A SNP MCOLN1 ENST00000264079 human ensembl 69_37n +1 known missense c.150 p.M50I 1.000 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 26 0 0.00 30 5 14.29 - - - MDN1 0 genome.wustl.edu 37 6 90453333 90453333 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 90453333 90453333 C T SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.4279 p.G1427S 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 88 0 0.00 48 24 33.33 - - - MED12 0 genome.wustl.edu 37 X 70342620 70342620 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 70342620 70342620 G A SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.1381 p.E461K 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 65 0 0.00 50 7 12.28 - - - MED12 0 genome.wustl.edu 37 X 70346870 70346870 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 70346870 70346870 G T SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.2737 p.D913Y 0.998 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 125 0 0.00 35 31 46.27 - - - MED13 0 genome.wustl.edu 37 17 60062382 60062382 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 60062382 60062382 G A SNP MED13 ENST00000397786 human ensembl 69_37n -1 known silent c.2455 p.L819 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 154 0 0.00 308 39 11.21 - - - MED13L 0 genome.wustl.edu 37 12 116406835 116406835 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 116406835 116406835 C T SNP MED13L ENST00000281928 human ensembl 69_37n -1 known silent c.6135 p.G2045 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 70 0 0.00 50 12 19.05 - - - MEGF9 0 genome.wustl.edu 37 9 123374719 123374719 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 123374719 123374719 G A SNP MEGF9 ENST00000426959 human ensembl 69_37n -1 known missense c.1153 p.R385C 1.000 smart_EGF-like,pfscan_EGF_laminin pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 99 0 0.00 74 15 16.85 - - - METTL14 0 genome.wustl.edu 37 4 119609136 119609136 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 119609136 119609136 G A SNP METTL14 ENST00000388822 human ensembl 69_37n +1 known missense c.125 p.R42K 1.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 55 0 0.00 45 12 21.05 - - - METTL14 0 genome.wustl.edu 37 4 119609147 119609147 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 119609147 119609147 G A SNP METTL14 ENST00000388822 human ensembl 69_37n +1 known missense c.136 p.E46K 1.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 46 0 0.00 42 10 19.23 - - - METTL2A 0 genome.wustl.edu 37 17 60518038 60518038 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 60518038 60518038 G C SNP METTL2A ENST00000311506 human ensembl 69_37n +1 known missense c.730 p.E244Q 0.838 pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd - no_errors METTL2A HGNC ENSG00000087995 208 0 0.00 376 58 13.36 - - - MGEA5 0 genome.wustl.edu 37 10 103569984 103569984 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 103569984 103569984 G A SNP MGEA5 ENST00000361464 human ensembl 69_37n -1 known missense c.437 p.S146F 1.000 pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 70 0 0.00 36 10 21.74 - - - MIER1 0 genome.wustl.edu 37 1 67411967 67411967 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 67411967 67411967 G A SNP MIER1 ENST00000401041 human ensembl 69_37n +1 known missense c.328 p.D110N 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 90 0 0.00 56 32 36.36 - - - MIPOL1 0 genome.wustl.edu 37 14 38016173 38016173 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 38016173 38016173 C G SNP MIPOL1 ENST00000327441 human ensembl 69_37n +1 known missense c.1326 p.I442M 1.000 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 70 0 0.00 46 22 32.35 - - - MIR190B 0 genome.wustl.edu 37 1 154166178 154166178 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 154166178 154166178 C T SNP MIR190B ENST00000401119 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors MIR190B HGNC ENSG00000215938 67 0 0.00 70 21 23.08 - - - MIR517A 0 genome.wustl.edu 37 19 54215542 54215542 + RNA SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 54215542 54215542 G C SNP MIR517A ENST00000385001 human ensembl 69_37n +1 known rna NULL NULL 0.174 - - - no_errors MIR517A HGNC ENSG00000207734 117 0 0.00 95 20 17.39 - - - MLL 0 genome.wustl.edu 37 11 118376471 118376471 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 118376471 118376471 C T SNP MLL ENST00000389506 human ensembl 69_37n +1 known silent c.9855 p.I3285 1.000 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_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 79 0 0.00 46 16 25.81 - - - MLL5 0 genome.wustl.edu 37 7 104715186 104715186 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 104715186 104715186 C G SNP MLL5 ENST00000257745 human ensembl 69_37n +1 known nonsense c.653 p.S218* 0.998 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 73 0 0.00 50 15 23.08 - - - MNS1 0 genome.wustl.edu 37 15 56723672 56723672 + Missense_Mutation SNP A A C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 56723672 56723672 A C SNP MNS1 ENST00000260453 human ensembl 69_37n -1 known missense c.1294 p.L432V 0.012 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 101 1 0.98 61 26 29.89 - - - MON2 0 genome.wustl.edu 37 12 62986519 62986519 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 62986519 62986519 G C SNP MON2 ENST00000393630 human ensembl 69_37n +1 known missense c.5147 p.G1716A 1.000 NULL pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 54 0 0.00 46 13 22.03 - - - MOV10 0 genome.wustl.edu 37 1 113242703 113242703 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 113242703 113242703 C G SNP MOV10 ENST00000468624 human ensembl 69_37n +1 known rna NULL NULL 0.013 - - - no_errors MOV10 HGNC ENSG00000155363 17 0 0.00 6 5 45.45 - - - MPRIP 0 genome.wustl.edu 37 17 17083362 17083362 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 17083362 17083362 G C SNP MPRIP ENST00000395811 human ensembl 69_37n +1 known missense c.3005 p.R1002T 1.000 NULL pfam_Pleckstrin_homology,superfamily_Ferritin/RR-like,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 82 0 0.00 104 13 11.11 - - - MRPL53 0 genome.wustl.edu 37 2 74699267 74699267 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 74699267 74699267 C T SNP MRPL53 ENST00000409710 human ensembl 69_37n -1 novel missense c.205 p.G69R 0.000 NULL NULL - no_errors MRPL53 HGNC ENSG00000204822 33 0 0.00 17 7 29.17 - - - MS4A8B 0 genome.wustl.edu 37 11 60476149 60476149 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 60476149 60476149 C T SNP MS4A8B ENST00000525458 human ensembl 69_37n +1 putative missense c.374 p.S125L 0.977 pfam_CD20-like pfam_CD20-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MS4A8B HGNC ENSG00000166959 76 0 0.00 36 21 36.84 - - - MSH3 0 genome.wustl.edu 37 5 80149949 80149949 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 80149949 80149949 G T SNP MSH3 ENST00000265081 human ensembl 69_37n +1 known missense c.2814 p.R938S 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 66 0 0.00 50 14 21.88 - - - MST1R 0 genome.wustl.edu 37 3 49934985 49934985 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 49934985 49934985 C T SNP MST1R ENST00000296474 human ensembl 69_37n -1 known missense c.2014 p.G672S 0.996 pirsf_Tyr_kinase_HGF/MSP_rcpt,smart_IPT_TIG_rcpt pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 21 0 0.00 11 5 31.25 - - - MST1R 0 genome.wustl.edu 37 3 49940844 49940844 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 49940844 49940844 C T SNP MST1R ENST00000296474 human ensembl 69_37n -1 known missense c.199 p.E67K 0.003 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 44 0 0.00 27 6 17.14 - - - MST1R 0 genome.wustl.edu 37 3 49940880 49940880 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 49940880 49940880 C G SNP MST1R ENST00000296474 human ensembl 69_37n -1 known missense c.163 p.V55L 0.924 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 38 0 0.00 21 8 27.59 - - - MST1R 0 genome.wustl.edu 37 3 49940888 49940888 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 49940888 49940888 C T SNP MST1R ENST00000296474 human ensembl 69_37n -1 known missense c.155 p.G52E 0.001 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 38 0 0.00 23 7 23.33 - - - MTG1 0 genome.wustl.edu 37 10 135215105 135215105 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 135215105 135215105 C T SNP MTG1 ENST00000460848 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MTG1 Clone_based_vega_gene ENSG00000148824 38 0 0.00 29 4 12.12 - - - MTHFD2 0 genome.wustl.edu 37 2 74432940 74432940 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 74432940 74432940 G C SNP MTHFD2 ENST00000394053 human ensembl 69_37n +1 known silent c.210 p.L70 1.000 pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2 HGNC ENSG00000065911 55 0 0.00 31 11 26.19 - - - MTTP 0 genome.wustl.edu 37 4 100521726 100521726 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 100521726 100521726 C T SNP MTTP ENST00000265517 human ensembl 69_37n +1 known nonsense c.1072 p.Q358* 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N 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 66 0 0.00 50 14 21.21 - - - MTUS2 0 genome.wustl.edu 37 13 30077140 30077140 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 30077140 30077140 G A SNP MTUS2 ENST00000431530 human ensembl 69_37n +1 known missense c.3937 p.E1313K 0.999 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 37 0 0.00 24 6 20.00 - - - MUC16 0 genome.wustl.edu 37 19 9046789 9046789 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 9046789 9046789 C G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.34842 p.T11614 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 100 0 0.00 67 26 27.66 - - - MUC16 0 genome.wustl.edu 37 19 9063096 9063096 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 9063096 9063096 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.24350 p.S8117F 0.003 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 85 0 0.00 75 19 20.21 - - - MUC16 0 genome.wustl.edu 37 19 9068489 9068489 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 9068489 9068489 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.18957 p.V6319 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 122 0 0.00 100 38 27.54 - - - MUC17 0 genome.wustl.edu 37 7 100675012 100675012 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 100675012 100675012 C T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.315 p.V105 0.004 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 69 0 0.00 42 14 24.56 - - - MYBPC1 0 genome.wustl.edu 37 12 102056149 102056149 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 102056149 102056149 G C SNP MYBPC1 ENST00000361466 human ensembl 69_37n +1 known missense c.2046 p.E682D 1.000 pfam_Fibronectin_type3,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 - no_errors MYBPC1 HGNC ENSG00000196091 29 0 0.00 29 9 23.68 - - - MYBPC3 0 genome.wustl.edu 37 11 47374181 47374181 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 47374181 47374181 C T SNP MYBPC3 ENST00000399249 human ensembl 69_37n -1 known silent c.18 p.K6 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC3 HGNC ENSG00000134571 76 0 0.00 29 14 32.56 - - - MYCBPAP 0 genome.wustl.edu 37 17 48597009 48597009 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 48597009 48597009 G A SNP MYCBPAP ENST00000437498 human ensembl 69_37n +1 known missense c.830 p.R277K 0.001 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MYCBPAP HGNC ENSG00000136449 38 0 0.00 67 13 16.25 - - - MYH10 0 genome.wustl.edu 37 17 8424485 8424485 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 8424485 8424485 G A SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known silent c.2046 p.L682 0.983 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 155 0 0.00 77 40 33.90 - - - MYO16 0 genome.wustl.edu 37 13 109707850 109707850 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 109707850 109707850 C T SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known missense c.3176 p.S1059F 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 97 0 0.00 82 15 15.46 - - - MYO18A 0 genome.wustl.edu 37 17 27425981 27425981 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 27425981 27425981 C G SNP MYO18A ENST00000354329 human ensembl 69_37n -1 known missense c.3643 p.D1215H 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 118 0 0.00 56 22 28.21 - - - MYO3A 0 genome.wustl.edu 37 10 26465629 26465629 + Splice_Site SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 26465629 26465629 G A SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known splice_site c.4294-1 e29-1 1.000 - - - no_errors MYO3A HGNC ENSG00000095777 46 0 0.00 34 6 15.00 - - - MYO9B 0 genome.wustl.edu 37 19 17313011 17313011 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 17313011 17313011 G A SNP MYO9B ENST00000397274 human ensembl 69_37n +1 known missense c.4735 p.E1579K 0.874 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 23 0 0.00 12 5 29.41 - - - MYOM1 0 genome.wustl.edu 37 18 3094176 3094176 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 3094176 3094176 C T SNP MYOM1 ENST00000356443 human ensembl 69_37n -1 known missense c.3856 p.E1286K 1.000 smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC ENSG00000101605 96 0 0.00 59 25 29.76 - - - MYOM2 0 genome.wustl.edu 37 8 2054142 2054142 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 2054142 2054142 G C SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known missense c.2845 p.E949Q 1.000 smart_Ig_sub,pfscan_Ig-like 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 - no_errors MYOM2 HGNC ENSG00000036448 77 0 0.00 61 13 17.57 - - - MYT1L 0 genome.wustl.edu 37 2 1926145 1926145 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 1926145 1926145 C G SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.1396 p.E466Q 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 124 0 0.00 77 12 13.48 - - - NACAD 0 genome.wustl.edu 37 7 45122984 45122984 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 45122984 45122984 C T SNP NACAD ENST00000490531 human ensembl 69_37n -1 known missense c.2795 p.G932D 0.008 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 62 0 0.00 33 8 19.51 - - - NADSYN1 0 genome.wustl.edu 37 11 71208553 71208553 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 71208553 71208553 G A SNP NADSYN1 ENST00000319023 human ensembl 69_37n +1 known missense c.1789 p.E597K 0.997 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 103 0 0.00 36 24 40.00 - - - NANS 0 genome.wustl.edu 37 9 100840472 100840472 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 100840472 100840472 C G SNP NANS ENST00000415280 human ensembl 69_37n +1 known nonsense c.23 p.S8* 0.969 pfam_Neu5Ac_N pfam_Neu5Ac_N - no_stop_codon NANS HGNC ENSG00000095380 82 0 0.00 51 23 30.67 - - - NAV2 0 genome.wustl.edu 37 11 20104613 20104613 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 20104613 20104613 C T SNP NAV2 ENST00000396087 human ensembl 69_37n +1 known missense c.5563 p.H1855Y 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 74 0 0.00 61 27 30.34 - - - NBAS 0 genome.wustl.edu 37 2 15534412 15534412 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 15534412 15534412 G C SNP NBAS ENST00000429842 human ensembl 69_37n -1 novel nonsense c.488 p.S163* 1.000 pfam_Sec39 pfam_Sec39 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NBAS HGNC ENSG00000151779 103 0 0.00 58 19 24.68 - - - NBN 0 genome.wustl.edu 37 8 90965699 90965699 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 90965699 90965699 G T SNP NBN ENST00000265433 human ensembl 69_37n -1 known missense c.1618 p.H540N 0.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 161 0 0.00 130 44 25.29 - - - NCAPH 0 genome.wustl.edu 37 2 97025883 97025883 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 97025883 97025883 G T SNP NCAPH ENST00000240423 human ensembl 69_37n +1 known missense c.1360 p.D454Y 0.191 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 40 0 0.00 27 18 40.00 - - - NCOA3 0 genome.wustl.edu 37 20 46281227 46281227 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 46281227 46281227 C T SNP NCOA3 ENST00000371998 human ensembl 69_37n +1 known missense c.4024 p.P1342S 0.959 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA3 HGNC ENSG00000124151 74 0 0.00 65 10 13.33 - - - NCOA6 0 genome.wustl.edu 37 20 33329000 33329000 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 33329000 33329000 G C SNP NCOA6 ENST00000359003 human ensembl 69_37n -1 known missense c.5060 p.S1687C 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 91 0 0.00 81 37 31.36 - - - NCOA7 0 genome.wustl.edu 37 6 126203578 126203578 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 126203578 126203578 G A SNP NCOA7 ENST00000368357 human ensembl 69_37n +1 known missense c.580 p.D194N 1.000 NULL pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 63 0 0.00 64 9 12.33 - - - NCOR1 0 genome.wustl.edu 37 17 16075194 16075194 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 16075194 16075194 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known nonsense c.358 p.Q120* 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 31 0 0.00 25 7 21.88 - - - NCR2 0 genome.wustl.edu 37 6 41318535 41318535 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 41318535 41318535 G A SNP NCR2 ENST00000373089 human ensembl 69_37n +1 known missense c.764 p.R255K 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR2 HGNC ENSG00000096264 51 0 0.00 42 7 14.29 - - - NDUFA4L2 0 genome.wustl.edu 37 12 57629349 57629349 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 57629349 57629349 G C SNP NDUFA4L2 ENST00000393825 human ensembl 69_37n -1 known missense c.261 p.F87L 1.000 NULL NULL - no_errors NDUFA4L2 HGNC ENSG00000185633 44 0 0.00 29 10 25.64 - - - NDUFB1 0 genome.wustl.edu 37 14 92583859 92583859 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 92583859 92583859 C G SNP NDUFB1 ENST00000329559 human ensembl 69_37n -1 known missense c.264 p.K88N 1.000 pfam_NADH_UbQ_OxRdtase_MNLL_su pfam_NADH_UbQ_OxRdtase_MNLL_su - no_errors NDUFB1 HGNC ENSG00000183648 75 0 0.00 44 13 22.81 - - - NDUFB1 0 genome.wustl.edu 37 14 92583888 92583888 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 92583888 92583888 C A SNP NDUFB1 ENST00000329559 human ensembl 69_37n -1 known missense c.235 p.D79Y 1.000 pfam_NADH_UbQ_OxRdtase_MNLL_su pfam_NADH_UbQ_OxRdtase_MNLL_su - no_errors NDUFB1 HGNC ENSG00000183648 66 0 0.00 48 11 18.64 - - - NEB 0 genome.wustl.edu 37 2 152409956 152409956 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 152409956 152409956 G C SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.19687 p.P6563A 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 88 0 0.00 69 21 23.33 - - - NECAP2 0 genome.wustl.edu 37 1 16778398 16778398 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 16778398 16778398 G A SNP NECAP2 ENST00000443980 human ensembl 69_37n +1 known silent c.555 p.L185 1.000 NULL pfam_NECAP-1 - no_errors NECAP2 HGNC ENSG00000157191 39 0 0.00 21 4 16.00 - - - NEDD9 0 genome.wustl.edu 37 6 11190945 11190945 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 11190945 11190945 G A SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known missense c.1157 p.S386F 1.000 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 48 0 0.00 23 8 25.00 - - - NEK10 0 genome.wustl.edu 37 3 27204223 27204223 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 27204223 27204223 G A SNP NEK10 ENST00000383771 human ensembl 69_37n -1 known silent c.774 p.F258 0.934 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK10 HGNC ENSG00000163491 76 0 0.00 70 21 22.58 - - - NEK4 0 genome.wustl.edu 37 3 52745823 52745823 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 52745823 52745823 C G SNP NEK4 ENST00000233027 human ensembl 69_37n -1 known missense c.2496 p.L832F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 88 0 0.00 76 19 20.00 - - - NEK6 0 genome.wustl.edu 37 9 127101933 127101933 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 127101933 127101933 C G SNP NEK6 ENST00000373600 human ensembl 69_37n +1 known missense c.808 p.L270V 0.906 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 89 0 0.00 37 15 28.85 - - - NETO2 0 genome.wustl.edu 37 16 47162345 47162345 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 47162345 47162345 C G SNP NETO2 ENST00000562559 human ensembl 69_37n -1 putative missense c.25 p.E9Q 0.970 pfam_CUB,superfamily_CUB,pfscan_CUB pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NETO2 HGNC ENSG00000171208 72 0 0.00 47 12 20.00 - - - NEURL 0 genome.wustl.edu 37 10 105331386 105331386 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 105331386 105331386 C T SNP NEURL ENST00000369780 human ensembl 69_37n +1 known silent c.456 p.F152 1.000 smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 54 0 0.00 23 9 28.12 - - - NEUROD1 0 genome.wustl.edu 37 2 182543321 182543321 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 182543321 182543321 C T SNP NEUROD1 ENST00000295108 human ensembl 69_37n -1 known silent c.267 p.K89 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd - no_errors NEUROD1 HGNC ENSG00000162992 159 0 0.00 98 13 11.61 - - - NINL 0 genome.wustl.edu 37 20 25448048 25448048 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 25448048 25448048 C T SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.3400 p.E1134K 0.032 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 101 0 0.00 67 19 22.09 - - - NKAPL 0 genome.wustl.edu 37 6 28228226 28228226 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 28228226 28228226 G A SNP NKAPL ENST00000343684 human ensembl 69_37n +1 known silent c.1077 p.Q359 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 126 0 0.00 65 15 18.52 - - - NLRC4 0 genome.wustl.edu 37 2 32461373 32461373 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 32461373 32461373 G C SNP NLRC4 ENST00000360906 human ensembl 69_37n -1 known missense c.2557 p.L853V 0.998 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 156 0 0.00 108 39 26.53 - - - NLRC4 0 genome.wustl.edu 37 2 32475918 32475918 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 32475918 32475918 G C SNP NLRC4 ENST00000360906 human ensembl 69_37n -1 known missense c.1015 p.L339V 1.000 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 52 0 0.00 40 12 22.22 - - - NLRP3 0 genome.wustl.edu 37 1 247597529 247597529 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 247597529 247597529 C T SNP NLRP3 ENST00000336119 human ensembl 69_37n +1 known silent c.2452 p.L818 0.088 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 71 0 0.00 40 15 27.27 - - - NMD3 0 genome.wustl.edu 37 3 160942832 160942832 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 160942832 160942832 G C SNP NMD3 ENST00000351193 human ensembl 69_37n +1 known silent c.159 p.S53 0.977 pfam_NMD3 pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 95 0 0.00 80 9 10.00 - - - NMNAT1 0 genome.wustl.edu 37 1 10041198 10041198 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 10041198 10041198 C G SNP NMNAT1 ENST00000496751 human ensembl 69_37n +1 putative nonsense c.89 p.S30* 0.215 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NMNAT1 HGNC ENSG00000173614 57 0 0.00 43 9 17.31 - - - NMU 0 genome.wustl.edu 37 4 56475337 56475337 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 56475337 56475337 C T SNP NMU ENST00000264218 human ensembl 69_37n -1 known missense c.229 p.A77T 0.064 NULL pfam_NMU_C,smart_NMU_C - no_errors NMU HGNC ENSG00000109255 66 0 0.00 66 19 22.35 - - - NOTCH2 0 genome.wustl.edu 37 1 120539920 120539920 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 120539920 120539920 G A SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.451 p.H151Y 0.998 pirsf_Notch,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 61 0 0.00 32 19 37.25 - - - NPR2 0 genome.wustl.edu 37 9 35809214 35809214 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 35809214 35809214 G T SNP NPR2 ENST00000342694 human ensembl 69_37n +1 known missense c.3048 p.Q1016H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 96 0 0.00 58 9 13.24 - - - NPRL3 0 genome.wustl.edu 37 16 160604 160604 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 160604 160604 C G SNP NPRL3 ENST00000399953 human ensembl 69_37n -1 known missense c.548 p.G183A 0.680 pfam_NPR3 pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 43 0 0.00 28 7 19.44 - - - NRCAM 0 genome.wustl.edu 37 7 107880462 107880462 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 107880462 107880462 C G SNP NRCAM ENST00000379028 human ensembl 69_37n -1 known missense c.47 p.R16T 0.818 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 64 0 0.00 45 21 31.82 - - - NUB1 0 genome.wustl.edu 37 7 151074240 151074240 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 151074240 151074240 G C SNP NUB1 ENST00000568733 human ensembl 69_37n +1 known missense c.1849 p.D617H 1.000 NULL pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 45 0 0.00 35 8 18.60 - - - NUCKS1 0 genome.wustl.edu 37 1 205693108 205693108 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 205693108 205693108 C T SNP NUCKS1 ENST00000367142 human ensembl 69_37n -1 known missense c.175 p.E59K 1.000 NULL NULL - no_errors NUCKS1 HGNC ENSG00000069275 99 0 0.00 86 15 14.85 - - - NUP153 0 genome.wustl.edu 37 6 17616916 17616916 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 17616916 17616916 G C SNP NUP153 ENST00000537253 human ensembl 69_37n -1 known missense c.4278 p.F1426L 1.000 pfam_Retro-transposon_transp_CS pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 99 0 0.00 87 23 20.72 - - - NUP210L 0 genome.wustl.edu 37 1 154002391 154002391 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 154002391 154002391 G C SNP NUP210L ENST00000368559 human ensembl 69_37n -1 known missense c.3836 p.S1279C 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 51 0 0.00 60 14 18.92 - - - NUP214 0 genome.wustl.edu 37 9 134049692 134049692 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 134049692 134049692 G A SNP NUP214 ENST00000451030 human ensembl 69_37n +1 known silent c.3147 p.V1049 0.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 27 0 0.00 13 10 43.48 - - - NXF3 0 genome.wustl.edu 37 X 102338584 102338584 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 102338584 102338584 G C SNP NXF3 ENST00000395065 human ensembl 69_37n -1 known missense c.388 p.L130V 0.426 pfam_Tap_RNA-bd pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 125 0 0.00 60 15 19.74 - - - OCLN 0 genome.wustl.edu 37 5 68800079 68800079 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 68800079 68800079 C G SNP OCLN ENST00000355237 human ensembl 69_37n +1 known missense c.8 p.S3C 0.367 pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 71 0 0.00 41 21 33.87 - - - OFCC1 0 genome.wustl.edu 37 6 9903633 9903633 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 9903633 9903633 C T SNP OFCC1 ENST00000469426 human ensembl 69_37n -1 known missense c.346 p.D116N 0.055 NULL NULL - no_start_codon OFCC1 HGNC ENSG00000181355 161 0 0.00 147 24 14.04 - - - ONECUT1 0 genome.wustl.edu 37 15 53080980 53080980 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 53080980 53080980 C G SNP ONECUT1 ENST00000305901 human ensembl 69_37n -1 known missense c.1102 p.A368P 1.000 superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 30 0 0.00 12 10 45.45 - - - ONECUT1 0 genome.wustl.edu 37 15 53081051 53081051 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 53081051 53081051 C T SNP ONECUT1 ENST00000305901 human ensembl 69_37n -1 known missense c.1031 p.R344Q 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 66 0 0.00 33 14 29.79 - - - OR11H1 0 genome.wustl.edu 37 22 16449769 16449769 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 16449769 16449769 C T SNP OR11H1 ENST00000252835 human ensembl 69_37n -1 known missense c.36 p.M12I 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 35 0 0.00 29 7 19.44 - - - OR13F1 0 genome.wustl.edu 37 9 107266827 107266827 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 107266827 107266827 C T SNP OR13F1 ENST00000334726 human ensembl 69_37n +1 known missense c.284 p.S95L 0.040 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13F1 HGNC ENSG00000186881 63 0 0.00 36 13 26.00 - - - OR1I1 0 genome.wustl.edu 37 19 15198731 15198731 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 15198731 15198731 C G SNP OR1I1 ENST00000209540 human ensembl 69_37n +1 known silent c.855 p.L285 0.997 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1I1 HGNC ENSG00000094661 50 0 0.00 31 11 26.19 - - - OR2W3 0 genome.wustl.edu 37 1 248058939 248058939 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 248058939 248058939 C T SNP OR2W3 ENST00000360358 human ensembl 69_37n +1 known silent c.51 p.F17 0.433 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 55 0 0.00 25 9 26.47 - - - OR4E2 0 genome.wustl.edu 37 14 22133391 22133391 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 22133391 22133391 C A SNP OR4E2 ENST00000408935 human ensembl 69_37n +1 known nonsense c.95 p.S32* 0.514 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 122 0 0.00 106 19 15.20 - - - OR51T1 0 genome.wustl.edu 37 11 4903616 4903616 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 4903616 4903616 G T SNP OR51T1 ENST00000380378 human ensembl 69_37n +1 known missense c.568 p.V190L 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51T1 HGNC ENSG00000176900 88 0 0.00 78 11 12.36 - - - OR56A4 0 genome.wustl.edu 37 11 6024305 6024305 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 6024305 6024305 G C SNP OR56A4 ENST00000330728 human ensembl 69_37n -1 known missense c.74 p.S25C 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 67 0 0.00 66 27 29.03 - - - OR6K6 0 genome.wustl.edu 37 1 158725148 158725148 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 158725148 158725148 C T SNP OR6K6 ENST00000368144 human ensembl 69_37n +1 known silent c.543 p.F181 0.112 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 79 0 0.00 51 19 26.76 - - - OR9A4 0 genome.wustl.edu 37 7 141619286 141619286 + Missense_Mutation SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 141619286 141619286 T G SNP OR9A4 ENST00000548136 human ensembl 69_37n +1 known missense c.611 p.V204G 0.370 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 118 0 0.00 92 19 17.12 - - - OR9K2 0 genome.wustl.edu 37 12 55524223 55524223 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 55524223 55524223 C G SNP OR9K2 ENST00000305377 human ensembl 69_37n +1 known missense c.671 p.S224C 0.006 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 93 0 0.00 57 26 30.95 - - - OSBPL7 0 genome.wustl.edu 37 17 45893814 45893814 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 45893814 45893814 G A SNP OSBPL7 ENST00000007414 human ensembl 69_37n -1 known silent c.963 p.L321 0.998 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL7 HGNC ENSG00000006025 46 0 0.00 44 8 15.38 - - - OSTN 0 genome.wustl.edu 37 3 190967882 190967882 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 190967882 190967882 G A SNP OSTN ENST00000339051 human ensembl 69_37n +1 known missense c.374 p.R125K 0.563 pfam_Osteocrin pfam_Osteocrin - no_errors OSTN HGNC ENSG00000188729 82 0 0.00 69 22 23.91 - - - PAF1 0 genome.wustl.edu 37 19 39880904 39880904 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 39880904 39880904 C A SNP PAF1 ENST00000221265 human ensembl 69_37n -1 known nonsense c.73 p.E25* 1.000 NULL pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 85 0 0.00 57 20 25.97 - - - PAK1 0 genome.wustl.edu 37 11 77054952 77054952 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 77054952 77054952 G A SNP PAK1 ENST00000278568 human ensembl 69_37n -1 known nonsense c.910 p.Q304* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK1 HGNC ENSG00000149269 129 0 0.00 178 28 13.53 - - - PALB2 0 genome.wustl.edu 37 16 23641648 23641648 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 23641648 23641648 G A SNP PALB2 ENST00000261584 human ensembl 69_37n -1 known silent c.1827 p.I609 0.892 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 56 0 0.00 49 14 22.22 - - - PANK3 0 genome.wustl.edu 37 5 167995968 167995968 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 167995968 167995968 G A SNP PANK3 ENST00000239231 human ensembl 69_37n -1 known silent c.64 p.L22 0.759 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 45 0 0.00 50 10 16.67 - - - PARP10 0 genome.wustl.edu 37 8 145058738 145058738 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 145058738 145058738 C T SNP PARP10 ENST00000313028 human ensembl 69_37n -1 known missense c.1432 p.E478K 0.720 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 37 0 0.00 26 8 23.53 - - - PARP10 0 genome.wustl.edu 37 8 145058780 145058780 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 145058780 145058780 C T SNP PARP10 ENST00000313028 human ensembl 69_37n -1 known missense c.1390 p.D464N 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 40 0 0.00 19 9 32.14 - - - PARP10 0 genome.wustl.edu 37 8 145059210 145059210 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 145059210 145059210 C T SNP PARP10 ENST00000313028 human ensembl 69_37n -1 known missense c.960 p.M320I 0.003 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 41 0 0.00 22 7 24.14 - - - PARP10 0 genome.wustl.edu 37 8 145059220 145059220 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 145059220 145059220 C T SNP PARP10 ENST00000313028 human ensembl 69_37n -1 known missense c.950 p.R317K 0.001 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 45 0 0.00 20 7 25.00 - - - PARP3 0 genome.wustl.edu 37 3 51978149 51978149 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 51978149 51978149 G C SNP PARP3 ENST00000398755 human ensembl 69_37n +1 known missense c.249 p.E83D 0.000 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 43 0 0.00 10 5 33.33 - - - PARP3 0 genome.wustl.edu 37 3 51978890 51978890 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 51978890 51978890 G A SNP PARP3 ENST00000398755 human ensembl 69_37n +1 known missense c.619 p.E207K 1.000 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 26 0 0.00 14 8 36.36 - - - PARP9 0 genome.wustl.edu 37 3 122274435 122274435 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 122274435 122274435 G C SNP PARP9 ENST00000360356 human ensembl 69_37n -1 known missense c.688 p.H230D 0.000 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 65 0 0.00 69 11 13.75 - - - PARP9 0 genome.wustl.edu 37 3 122274953 122274953 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 122274953 122274953 C G SNP PARP9 ENST00000360356 human ensembl 69_37n -1 known missense c.170 p.G57A 0.000 NULL pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 14 0 0.00 11 5 31.25 - - - PARVG 0 genome.wustl.edu 37 22 44585003 44585003 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 44585003 44585003 C G SNP PARVG ENST00000415224 human ensembl 69_37n +1 known missense c.257 p.A86G 0.189 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 32 0 0.00 9 11 55.00 - - - PCDHA3 0 genome.wustl.edu 37 5 140181299 140181299 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 140181299 140181299 G A SNP PCDHA3 ENST00000522353 human ensembl 69_37n +1 known missense c.517 p.D173N 0.052 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 PCDHA3 HGNC ENSG00000255408 44 0 0.00 31 18 36.00 - - - PCDHGA2 0 genome.wustl.edu 37 5 140719182 140719182 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 140719182 140719182 C A SNP PCDHGA2 ENST00000394576 human ensembl 69_37n +1 known missense c.644 p.S215Y 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 PCDHGA2 HGNC ENSG00000081853 41 0 0.00 33 8 19.05 - - - PCDHGA3 0 genome.wustl.edu 37 5 140723819 140723819 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 140723819 140723819 G T SNP PCDHGA3 ENST00000253812 human ensembl 69_37n +1 known missense c.219 p.Q73H 0.990 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 36 0 0.00 23 11 32.35 - - - PCDHGA8 0 genome.wustl.edu 37 5 140772611 140772611 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 140772611 140772611 G A SNP PCDHGA8 ENST00000398604 human ensembl 69_37n +1 known silent c.231 p.L77 0.971 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 28 0 0.00 14 6 30.00 - - - PCLO 0 genome.wustl.edu 37 7 82579161 82579161 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 82579161 82579161 C T SNP PCLO ENST00000333891 human ensembl 69_37n -1 known silent c.10743 p.L3581 0.951 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 140 0 0.00 146 26 15.03 - - - PCLO 0 genome.wustl.edu 37 7 82785412 82785412 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 82785412 82785412 G A SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.545 p.S182F 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 127 0 0.00 124 35 22.01 - - - PCNXL2 0 genome.wustl.edu 37 1 233136146 233136146 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 233136146 233136146 C A SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known nonsense c.5233 p.E1745* 1.000 pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 31 0 0.00 32 6 15.79 - - - PDE6A 0 genome.wustl.edu 37 5 149276340 149276340 + Splice_Site SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 149276340 149276340 C T SNP PDE6A ENST00000255266 human ensembl 69_37n -1 known splice_site c.1408-1 e11-1 1.000 - - - no_errors PDE6A HGNC ENSG00000132915 69 0 0.00 30 14 31.11 - - - PDE8B 0 genome.wustl.edu 37 5 76649195 76649195 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 76649195 76649195 C G SNP PDE8B ENST00000264917 human ensembl 69_37n +1 known silent c.1131 p.L377 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,prints_PDEase,pfscan_PAS,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 113 0 0.00 84 23 21.50 - - - PDGFRA 0 genome.wustl.edu 37 4 55141020 55141020 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 55141020 55141020 G A SNP PDGFRA ENST00000257290 human ensembl 69_37n +1 known missense c.1666 p.E556K 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRA HGNC ENSG00000134853 45 0 0.00 32 7 17.95 - - - PDPK1 0 genome.wustl.edu 37 16 2636750 2636750 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 2636750 2636750 C A SNP PDPK1 ENST00000342085 human ensembl 69_37n +1 known missense c.1199 p.S400Y 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PDPK1 HGNC ENSG00000140992 73 0 0.00 37 7 15.91 - - - PDS5A 0 genome.wustl.edu 37 4 39915337 39915337 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 39915337 39915337 C T SNP PDS5A ENST00000303538 human ensembl 69_37n -1 known missense c.886 p.G296R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 26 0 0.00 30 12 28.57 - - - PDZD2 0 genome.wustl.edu 37 5 32048704 32048704 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 32048704 32048704 G A SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.1579 p.D527N 0.999 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 36 0 0.00 33 6 15.38 - - - PGM2 0 genome.wustl.edu 37 4 37846059 37846059 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 37846059 37846059 C A SNP PGM2 ENST00000381967 human ensembl 69_37n +1 known nonsense c.794 p.S265* 0.888 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM2 HGNC ENSG00000169299 120 0 0.00 85 10 10.53 - - - PGM3 0 genome.wustl.edu 37 6 83898385 83898385 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 83898385 83898385 C G SNP PGM3 ENST00000513973 human ensembl 69_37n -1 known missense c.337 p.E113Q 0.998 superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 72 0 0.00 49 16 24.62 - - - PHC3 0 genome.wustl.edu 37 3 169815093 169815093 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 169815093 169815093 G C SNP PHC3 ENST00000484068 human ensembl 69_37n -1 known nonsense c.410 p.S137* 0.998 pfam_SAM_type1,pfam_SAM_2,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PHC3 HGNC ENSG00000173889 77 0 0.00 79 12 12.90 - - - PHLPP1 0 genome.wustl.edu 37 18 60384485 60384485 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 60384485 60384485 C G SNP PHLPP1 ENST00000262719 human ensembl 69_37n +1 known missense c.1569 p.F523L 1.000 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 64 0 0.00 17 14 43.75 - - - PI4K2B 0 genome.wustl.edu 37 4 25258265 25258265 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 25258265 25258265 G A SNP PI4K2B ENST00000264864 human ensembl 69_37n +1 known missense c.725 p.R242K 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2B HGNC ENSG00000038210 46 0 0.00 58 19 24.36 - - - PI4KAP1 0 genome.wustl.edu 37 22 20385170 20385170 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 20385170 20385170 C T SNP PI4KAP1 ENST00000430523 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP1 HGNC ENSG00000215513 118 0 0.00 61 25 29.07 - - - PI4KB 0 genome.wustl.edu 37 1 151266585 151266585 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 151266585 151266585 G T SNP PI4KB ENST00000446339 human ensembl 69_37n -1 putative nonsense c.95 p.S32* 1.000 superfamily_Kinase-like_dom superfamily_Kinase-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PI4KB HGNC ENSG00000143393 59 0 0.00 45 9 16.67 - - - PIDD 0 genome.wustl.edu 37 11 800427 800427 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 800427 800427 C G SNP PIDD ENST00000347755 human ensembl 69_37n -1 known missense c.2066 p.R689T 0.800 NULL pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 29 0 0.00 9 5 35.71 - - - PIEZO2 0 genome.wustl.edu 37 18 10807218 10807218 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 10807218 10807218 G A SNP PIEZO2 ENST00000579112 human ensembl 69_37n -1 novel missense c.139 p.H47Y 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PIEZO2 HGNC ENSG00000154864 59 0 0.00 48 15 23.44 - - - PIGG 0 genome.wustl.edu 37 4 524392 524392 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 524392 524392 G A SNP PIGG ENST00000453061 human ensembl 69_37n +1 known missense c.2429 p.R810K 0.522 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 136 0 0.00 111 22 16.54 - - - PIGR 0 genome.wustl.edu 37 1 207112715 207112715 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 207112715 207112715 G A SNP PIGR ENST00000356495 human ensembl 69_37n -1 known missense c.137 p.S46F 0.998 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PIGR HGNC ENSG00000162896 57 0 0.00 58 11 15.94 - - - PIGS 0 genome.wustl.edu 37 17 26888531 26888531 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 26888531 26888531 C G SNP PIGS ENST00000308360 human ensembl 69_37n -1 known missense c.585 p.L195F 1.000 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 38 0 0.00 36 6 14.29 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 44 0 0.00 49 6 10.91 - - - PIP5K1A 0 genome.wustl.edu 37 1 151210675 151210675 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 151210675 151210675 C T SNP PIP5K1A ENST00000368888 human ensembl 69_37n +1 known missense c.1163 p.A388V 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 71 0 0.00 76 30 28.30 - - - PIR 0 genome.wustl.edu 37 X 15403102 15403102 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 15403102 15403102 C G SNP PIR ENST00000492432 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PIR HGNC ENSG00000087842 153 0 0.00 72 10 12.05 - - - PIWIL1 0 genome.wustl.edu 37 12 130834474 130834474 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 130834474 130834474 G A SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.1006 p.D336N 0.999 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 36 0 0.00 33 15 31.25 - - - PIWIL3 0 genome.wustl.edu 37 22 25124145 25124145 + Missense_Mutation SNP T T A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 25124145 25124145 T A SNP PIWIL3 ENST00000332271 human ensembl 69_37n -1 known missense c.1931 p.D644V 0.001 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 103 0 0.00 86 24 21.62 - - - PIWIL3 0 genome.wustl.edu 37 22 25124146 25124146 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 25124146 25124146 C G SNP PIWIL3 ENST00000332271 human ensembl 69_37n -1 known missense c.1930 p.D644H 0.001 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 105 0 0.00 89 24 21.24 - - - PJA1 0 genome.wustl.edu 37 X 68382501 68382501 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 68382501 68382501 C T SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known missense c.581 p.R194K 0.675 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 48 0 0.00 12 7 35.00 - - - PJA1 0 genome.wustl.edu 37 X 68382697 68382697 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 68382697 68382697 C T SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known missense c.385 p.E129K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 71 0 0.00 35 9 20.45 - - - PJA1 0 genome.wustl.edu 37 X 68382750 68382750 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 68382750 68382750 C G SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known missense c.332 p.R111T 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 77 0 0.00 46 12 20.69 - - - PKHD1 0 genome.wustl.edu 37 6 51921764 51921764 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 51921764 51921764 G C SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known nonsense c.1526 p.S509* 0.998 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 48 0 0.00 36 10 21.28 - - - PKIG 0 genome.wustl.edu 37 20 43243223 43243223 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 43243223 43243223 C T SNP PKIG ENST00000349959 human ensembl 69_37n +1 known missense c.26 p.S9L 1.000 pfam_cAMP_dep_PKI pfam_cAMP_dep_PKI - no_errors PKIG HGNC ENSG00000168734 24 0 0.00 17 7 29.17 - - - PLBD2 0 genome.wustl.edu 37 12 113818608 113818608 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 113818608 113818608 C T SNP PLBD2 ENST00000280800 human ensembl 69_37n +1 known silent c.918 p.I306 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 85 0 0.00 51 17 25.00 - - - PLCB1 0 genome.wustl.edu 37 20 8713940 8713940 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 8713940 8713940 C A SNP PLCB1 ENST00000338037 human ensembl 69_37n +1 known nonsense c.1944 p.Y648* 1.000 pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 85 0 0.00 40 9 18.37 - - - PLCH1 0 genome.wustl.edu 37 3 155301389 155301389 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 155301389 155301389 C G SNP PLCH1 ENST00000340059 human ensembl 69_37n -1 known missense c.607 p.E203Q 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 40 0 0.00 50 14 21.88 - - - PLD1 0 genome.wustl.edu 37 3 171360647 171360647 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 171360647 171360647 C T SNP PLD1 ENST00000351298 human ensembl 69_37n -1 known missense c.2576 p.G859E 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 65 0 0.00 55 20 26.67 - - - PLXND1 0 genome.wustl.edu 37 3 129279238 129279238 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 129279238 129279238 G A SNP PLXND1 ENST00000324093 human ensembl 69_37n -1 known missense c.5068 p.H1690Y 0.998 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXND1 HGNC ENSG00000004399 43 0 0.00 17 6 26.09 - - - PM20D1 0 genome.wustl.edu 37 1 205813966 205813966 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 205813966 205813966 G C SNP PM20D1 ENST00000367136 human ensembl 69_37n -1 known missense c.549 p.F183L 1.000 pfam_Peptidase_M20 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 26 0 0.00 37 7 15.91 - - - PMS2 0 genome.wustl.edu 37 7 6026983 6026983 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 6026983 6026983 C T SNP PMS2 ENST00000265849 human ensembl 69_37n -1 known silent c.1413 p.Q471 0.001 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 54 0 0.00 40 11 21.57 - - - PNPT1 0 genome.wustl.edu 37 2 55900055 55900055 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 55900055 55900055 G A SNP PNPT1 ENST00000415374 human ensembl 69_37n -1 known missense c.839 p.S280L 0.832 superfamily_PNPase_PH_RNA-bd_bac/org-type,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 94 0 0.00 87 32 26.89 - - - POLG2 0 genome.wustl.edu 37 17 62492750 62492750 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 62492750 62492750 C A SNP POLG2 ENST00000539111 human ensembl 69_37n -1 known nonsense c.337 p.E113* 0.958 NULL pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC ENSG00000256525 33 0 0.00 32 6 15.79 - - - POLR2J3 0 genome.wustl.edu 37 7 102212838 102212838 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 102212838 102212838 C G SNP POLR2J3 ENST00000504157 human ensembl 69_37n -1 known rna NULL NULL 0.017 - - - no_errors POLR2J3 HGNC ENSG00000168255 68 0 0.00 17 3 15.00 - - - POTEH 0 genome.wustl.edu 37 22 16287463 16287463 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 16287463 16287463 G C SNP POTEH ENST00000343518 human ensembl 69_37n -1 known missense c.423 p.H141Q 0.002 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 POTEH HGNC ENSG00000198062 75 0 0.00 89 21 19.09 - - - POU5F1 0 genome.wustl.edu 37 6 31133802 31133802 + Missense_Mutation SNP T T A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 31133802 31133802 T A SNP POU5F1 ENST00000259915 human ensembl 69_37n -1 known missense c.428 p.Q143L 0.995 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1 HGNC ENSG00000204531 107 0 0.00 88 12 12.00 - - - PPEF1 0 genome.wustl.edu 37 X 18797190 18797190 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 18797190 18797190 G C SNP PPEF1 ENST00000361511 human ensembl 69_37n +1 known missense c.621 p.K207N 0.996 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 69 0 0.00 69 12 14.81 - - - PPFIA3 0 genome.wustl.edu 37 19 49643254 49643254 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 49643254 49643254 G A SNP PPFIA3 ENST00000334186 human ensembl 69_37n +1 known silent c.2277 p.K759 0.999 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 60 0 0.00 31 16 34.04 - - - PPIF 0 genome.wustl.edu 37 10 81113562 81113562 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 81113562 81113562 G A SNP PPIF ENST00000225174 human ensembl 69_37n +1 known silent c.588 p.K196 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 PPIF HGNC ENSG00000108179 66 0 0.00 36 6 14.29 - - - PPOX 0 genome.wustl.edu 37 1 161138049 161138049 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 161138049 161138049 C T SNP PPOX ENST00000490768 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PPOX HGNC ENSG00000143224 9 0 0.00 10 5 33.33 - - - PPP2R5C 0 genome.wustl.edu 37 14 102376010 102376010 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 102376010 102376010 C G SNP PPP2R5C ENST00000557071 human ensembl 69_37n +1 known nonsense c.26 p.S9* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PPP2R5C HGNC ENSG00000078304 62 0 0.00 36 12 24.49 - - - PQBP1 0 genome.wustl.edu 37 X 48755788 48755788 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 48755788 48755788 C G SNP PQBP1 ENST00000470062 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PQBP1 HGNC ENSG00000102103 182 0 0.00 64 35 35.35 - - - PRAMEF6 0 genome.wustl.edu 37 1 13001260 13001260 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 13001260 13001260 C T SNP PRAMEF6 ENST00000355096 human ensembl 69_37n -1 known missense c.423 p.M141I 0.000 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 73 0 0.00 53 13 19.70 - - - PRDX3 0 genome.wustl.edu 37 10 120936582 120936582 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 120936582 120936582 C T SNP PRDX3 ENST00000298510 human ensembl 69_37n -1 known silent c.120 p.L40 0.015 NULL pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX3 HGNC ENSG00000165672 38 0 0.00 33 10 23.26 - - - PRDX4 0 genome.wustl.edu 37 X 23704421 23704421 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 23704421 23704421 G C SNP PRDX4 ENST00000379341 human ensembl 69_37n +1 known missense c.785 p.G262A 1.000 pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX4 HGNC ENSG00000123131 114 0 0.00 67 28 29.17 - - - PRIC285 0 genome.wustl.edu 37 20 62203587 62203587 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 62203587 62203587 G C SNP PRIC285 ENST00000467148 human ensembl 69_37n -1 known missense c.152 p.S51C 0.996 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 20 0 0.00 6 4 36.36 - - - PRIM1 0 genome.wustl.edu 37 12 57144894 57144894 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 57144894 57144894 C G SNP PRIM1 ENST00000338193 human ensembl 69_37n -1 known missense c.189 p.Q63H 0.777 tigrfam_DNA_primase_ssu_euk/arc pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc - no_errors PRIM1 HGNC ENSG00000198056 182 0 0.00 149 18 10.71 - - - PROKR1 0 genome.wustl.edu 37 2 68873407 68873407 + Missense_Mutation SNP A A C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 68873407 68873407 A C SNP PROKR1 ENST00000303786 human ensembl 69_37n +1 known missense c.454 p.T152P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors PROKR1 HGNC ENSG00000169618 59 0 0.00 36 5 11.63 - - - PRPF40A 0 genome.wustl.edu 37 2 153533208 153533208 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 153533208 153533208 C T SNP PRPF40A ENST00000410080 human ensembl 69_37n -1 known missense c.742 p.E248K 1.000 prints_Antifreeze_1 pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 178 0 0.00 66 33 33.33 - - - PRR16 0 genome.wustl.edu 37 5 120022150 120022150 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 120022150 120022150 G A SNP PRR16 ENST00000407149 human ensembl 69_37n +1 known missense c.661 p.D221N 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 36 0 0.00 27 9 25.00 - - - PSD2 0 genome.wustl.edu 37 5 139221911 139221911 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 139221911 139221911 C G SNP PSD2 ENST00000274710 human ensembl 69_37n +1 known nonsense c.2168 p.S723* 0.993 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD2 HGNC ENSG00000146005 85 0 0.00 49 12 19.67 - - - PSEN1 0 genome.wustl.edu 37 14 73664751 73664751 + Missense_Mutation SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 73664751 73664751 T G SNP PSEN1 ENST00000324501 human ensembl 69_37n +1 known missense c.782 p.V261G 1.000 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Peptidase_A22A pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 135 0 0.00 79 28 25.93 - - - PSG11 0 genome.wustl.edu 37 19 43519387 43519387 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 43519387 43519387 G C SNP PSG11 ENST00000320078 human ensembl 69_37n -1 known nonsense c.845 p.S282* 0.004 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG11 HGNC ENSG00000243130 110 0 0.00 97 32 24.81 - - - PSMA6 0 genome.wustl.edu 37 14 35782183 35782183 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 35782183 35782183 G A SNP PSMA6 ENST00000261479 human ensembl 69_37n +1 known missense c.506 p.G169E 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 62 0 0.00 50 7 12.28 - - - PSMD1 0 genome.wustl.edu 37 2 232011053 232011053 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 232011053 232011053 G A SNP PSMD1 ENST00000308696 human ensembl 69_37n +1 known missense c.2098 p.E700K 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 47 0 0.00 32 10 23.81 - - - PSMD3 0 genome.wustl.edu 37 17 38153808 38153808 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 38153808 38153808 G T SNP PSMD3 ENST00000264639 human ensembl 69_37n +1 known nonsense c.1579 p.E527* 1.000 pfam_26S_Psome_reg_C pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 23 0 0.00 23 14 37.84 - - - PSMD6 0 genome.wustl.edu 37 3 64009039 64009039 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 64009039 64009039 G C SNP PSMD6 ENST00000295901 human ensembl 69_37n -1 known missense c.57 p.I19M 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 19 0 0.00 15 4 21.05 - - - PTCD3 0 genome.wustl.edu 37 2 86358205 86358206 + Frame_Shift_Ins INS - - T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 86358205 86358206 - T INS PTCD3 ENST00000254630 human ensembl 69_37n +1 known frame_shift_ins c.1242_1243 p.Q416fs 0.982:1.000 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 114 0 0.00 111 25 18.38 - - - PTCHD4 0 genome.wustl.edu 37 6 47846040 47846040 + Nonstop_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 47846040 47846040 C G SNP PTCHD4 ENST00000339488 human ensembl 69_37n -1 known nonstop c.2540 p.*847S 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 47 0 0.00 50 9 15.25 - - - PTPN23 0 genome.wustl.edu 37 3 47451651 47451651 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 47451651 47451651 C T SNP PTPN23 ENST00000265562 human ensembl 69_37n +1 known missense c.2363 p.S788L 0.260 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 37 0 0.00 11 8 42.11 - - - PTPN23 0 genome.wustl.edu 37 3 47453831 47453831 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 47453831 47453831 G T SNP PTPN23 ENST00000265562 human ensembl 69_37n +1 known nonsense c.4237 p.E1413* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 20 0 0.00 12 4 25.00 - - - PTPRA 0 genome.wustl.edu 37 20 2967452 2967452 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 2967452 2967452 C T SNP PTPRA ENST00000425918 human ensembl 69_37n +1 known silent c.517 p.L173 1.000 pirsf_Tyr_Pase_rcpt_a/e-type pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 153 0 0.00 105 32 23.36 - - - PTPRB 0 genome.wustl.edu 37 12 70953346 70953346 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 70953346 70953346 G A SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known silent c.4491 p.I1497 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 114 0 0.00 71 15 17.24 - - - PTPRD 0 genome.wustl.edu 37 9 8525027 8525027 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 8525027 8525027 G A SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known nonsense c.577 p.Q193* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 56 0 0.00 59 9 13.24 - - - PTPRQ 0 genome.wustl.edu 37 12 80935445 80935445 + Nonsense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 80935445 80935445 C G SNP PTPRQ ENST00000266688 human ensembl 69_37n +1 known nonsense c.3254 p.S1085* 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 57 0 0.00 45 9 16.36 - - - PUF60 0 genome.wustl.edu 37 8 144899196 144899196 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 144899196 144899196 C T SNP PUF60 ENST00000526683 human ensembl 69_37n -1 known missense c.1264 p.E422K 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 51 0 0.00 24 5 17.24 - - - PUS7 0 genome.wustl.edu 37 7 105146666 105146666 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 105146666 105146666 C G SNP PUS7 ENST00000356362 human ensembl 69_37n -1 known missense c.453 p.L151F 1.000 superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 80 0 0.00 52 20 27.78 - - - PWP2 0 genome.wustl.edu 37 21 45534480 45534480 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 45534480 45534480 C T SNP PWP2 ENST00000486126 human ensembl 69_37n +1 putative rna NULL NULL 0.002 - - - no_errors PWP2 HGNC ENSG00000241945 38 0 0.00 32 10 23.81 - - - PXDNL 0 genome.wustl.edu 37 8 52323876 52323876 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 52323876 52323876 C T SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known missense c.1996 p.E666K 1.000 NULL 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 - no_errors PXDNL HGNC ENSG00000147485 59 0 0.00 39 10 20.41 - - - PYCRL 0 genome.wustl.edu 37 8 144687950 144687950 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 144687950 144687950 C G SNP PYCRL ENST00000220966 human ensembl 69_37n -1 known missense c.781 p.E261Q 1.000 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCRL HGNC ENSG00000104524 23 0 0.00 6 4 40.00 - - - QPCTL 0 genome.wustl.edu 37 19 46196027 46196027 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 46196027 46196027 C G SNP QPCTL ENST00000012049 human ensembl 69_37n +1 known silent c.66 p.L22 0.005 NULL pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 20 0 0.00 10 4 28.57 - - - RAB3B 0 genome.wustl.edu 37 1 52399020 52399020 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 52399020 52399020 C T SNP RAB3B ENST00000371655 human ensembl 69_37n -1 known missense c.442 p.E148K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3B HGNC ENSG00000169213 54 0 0.00 37 5 11.90 - - - RAD54B 0 genome.wustl.edu 37 8 95419752 95419752 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 95419752 95419752 G A SNP RAD54B ENST00000336148 human ensembl 69_37n -1 known silent c.696 p.F232 0.427 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 47 0 0.00 68 11 13.75 - - - RAD54B 0 genome.wustl.edu 37 8 95419786 95419786 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 95419786 95419786 G C SNP RAD54B ENST00000336148 human ensembl 69_37n -1 known missense c.662 p.S221C 0.926 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 68 0 0.00 61 21 25.30 - - - RALGAPA1 0 genome.wustl.edu 37 14 36147276 36147276 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 36147276 36147276 G C SNP RALGAPA1 ENST00000258840 human ensembl 69_37n -1 known missense c.3127 p.L1043V 0.991 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 66 0 0.00 50 15 23.08 - - - RARA 0 genome.wustl.edu 37 17 38506062 38506062 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 38506062 38506062 G A SNP RARA ENST00000254066 human ensembl 69_37n +1 known silent c.354 p.K118 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt 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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARA HGNC ENSG00000131759 60 0 0.00 42 16 27.59 - - - RASA4CP 0 genome.wustl.edu 37 7 44073784 44073784 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 44073784 44073784 C G SNP RASA4CP ENST00000425524 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RASA4CP HGNC ENSG00000228903 53 0 0.00 35 21 36.84 - - - RASEF 0 genome.wustl.edu 37 9 85615118 85615118 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 85615118 85615118 C G SNP RASEF ENST00000376447 human ensembl 69_37n -1 known missense c.1689 p.K563N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 95 0 0.00 53 20 27.40 - - - RBAK 0 genome.wustl.edu 37 7 5104349 5104349 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 5104349 5104349 G C SNP RBAK ENST00000353796 human ensembl 69_37n +1 known missense c.1262 p.R421T 0.990 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 RBAK HGNC ENSG00000146587 31 0 0.00 25 14 35.90 - - - RBFOX2 0 genome.wustl.edu 37 22 36205855 36205855 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 36205855 36205855 G A SNP RBFOX2 ENST00000438146 human ensembl 69_37n -1 known missense c.434 p.S145L 0.995 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 RBFOX2 HGNC ENSG00000100320 158 0 0.00 93 27 22.50 - - - RBM14 0 genome.wustl.edu 37 11 66392567 66392567 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 66392567 66392567 C T SNP RBM14 ENST00000310137 human ensembl 69_37n +1 known missense c.1220 p.S407L 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 21 0 0.00 11 5 29.41 - - - RBM28 0 genome.wustl.edu 37 7 127975934 127975934 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 127975934 127975934 G A SNP RBM28 ENST00000487602 human ensembl 69_37n -1 known nonsense c.193 p.Q65* 0.005 NULL pfam_RRM_dom,pfscan_RRM_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RBM28 HGNC ENSG00000106344 245 0 0.00 152 51 24.76 - - - RBM47 0 genome.wustl.edu 37 4 40440028 40440028 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 40440028 40440028 C T SNP RBM47 ENST00000295971 human ensembl 69_37n -1 known missense c.883 p.V295M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 14 0 0.00 11 7 38.89 - - - RBM6 0 genome.wustl.edu 37 3 50103765 50103765 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 50103765 50103765 C G SNP RBM6 ENST00000266022 human ensembl 69_37n +1 known missense c.2773 p.P925A 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 43 0 0.00 39 14 26.42 - - - RC3H2 0 genome.wustl.edu 37 9 125659702 125659702 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 125659702 125659702 G A SNP RC3H2 ENST00000357244 human ensembl 69_37n -1 known silent c.87 p.I29 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 61 0 0.00 53 20 27.40 - - - RCBTB1 0 genome.wustl.edu 37 13 50129757 50129757 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 50129757 50129757 G C SNP RCBTB1 ENST00000258646 human ensembl 69_37n -1 known missense c.497 p.A166G 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_Reg_chr_condens,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 78 0 0.00 76 20 20.83 - - - RCHY1 0 genome.wustl.edu 37 4 76439444 76439444 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 76439444 76439444 C T SNP RCHY1 ENST00000324439 human ensembl 69_37n -1 known missense c.53 p.R18Q 0.998 NULL pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RCHY1 HGNC ENSG00000163743 63 0 0.00 23 16 40.00 - - - RELN 0 genome.wustl.edu 37 7 103113290 103113290 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 103113290 103113290 C T SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.10352 p.R3451K 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 148 0 0.00 116 39 25.16 - - - RELN 0 genome.wustl.edu 37 7 103155815 103155815 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 103155815 103155815 C T SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.7936 p.D2646N 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 21 0 0.00 12 7 36.84 - - - RFX3 0 genome.wustl.edu 37 9 3275544 3275544 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 3275544 3275544 C T SNP RFX3 ENST00000382004 human ensembl 69_37n -1 known missense c.1042 p.E348K 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 95 0 0.00 61 14 18.67 - - - RGS6 0 genome.wustl.edu 37 14 72985156 72985156 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 72985156 72985156 C G SNP RGS6 ENST00000553525 human ensembl 69_37n +1 known missense c.1189 p.P397A 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS6 HGNC ENSG00000182732 60 0 0.00 48 8 14.04 - - - RHOA 0 genome.wustl.edu 37 3 49412973 49412973 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 49412973 49412973 C G SNP RHOA ENST00000418115 human ensembl 69_37n -1 known missense c.50 p.G17A 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 55 0 0.00 46 14 23.33 - - - RHOF 0 genome.wustl.edu 37 12 122217526 122217526 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 122217526 122217526 C G SNP RHOF ENST00000267205 human ensembl 69_37n -1 known missense c.514 p.E172Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOF HGNC ENSG00000139725 41 0 0.00 27 4 12.90 - - - RHOJ 0 genome.wustl.edu 37 14 63757637 63757637 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 63757637 63757637 G A SNP RHOJ ENST00000316754 human ensembl 69_37n +1 known silent c.540 p.Q180 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 104 0 0.00 70 11 13.25 - - - RIC3 0 genome.wustl.edu 37 11 8148248 8148248 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 8148248 8148248 C G SNP RIC3 ENST00000309737 human ensembl 69_37n -1 known missense c.628 p.E210Q 1.000 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 100 0 0.00 114 14 10.94 - - - RNF168 0 genome.wustl.edu 37 3 196199186 196199186 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 196199186 196199186 C G SNP RNF168 ENST00000318037 human ensembl 69_37n -1 known missense c.1220 p.R407T 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 95 0 0.00 90 12 11.76 - - - RNF168 0 genome.wustl.edu 37 3 196210659 196210662 + Frame_Shift_Del DEL TTTC TTTC - TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 196210659 196210662 TTTC - DEL RNF168 ENST00000318037 human ensembl 69_37n -1 known frame_shift_del c.662_659 p.R220fs 0.000:0.000:0.000:0.001 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 127 0 0.00 97 25 20.33 - - - RNF213 0 genome.wustl.edu 37 17 78280205 78280205 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 78280205 78280205 C T SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known silent c.2364 p.I788 0.782 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 92 0 0.00 66 28 29.79 - - - RNF219 0 genome.wustl.edu 37 13 79209249 79209249 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 79209249 79209249 G C SNP RNF219 ENST00000282003 human ensembl 69_37n -1 known missense c.634 p.Q212E 1.000 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 134 0 0.00 92 27 22.50 - - - RNF34 0 genome.wustl.edu 37 12 121858105 121858105 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 121858105 121858105 G A SNP RNF34 ENST00000392465 human ensembl 69_37n +1 known missense c.697 p.D233N 0.047 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF34 HGNC ENSG00000170633 48 0 0.00 42 16 27.59 - - - RNLS 0 genome.wustl.edu 37 10 90332723 90332723 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 90332723 90332723 C T SNP RNLS ENST00000331772 human ensembl 69_37n -1 known missense c.463 p.D155N 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 68 0 0.00 60 19 23.75 - - - RNMT 0 genome.wustl.edu 37 18 13742650 13742650 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 13742650 13742650 G A SNP RNMT ENST00000262173 human ensembl 69_37n +1 known missense c.1138 p.E380K 1.000 pfam_Pox_MCEL,pirsf_mRNA_G-N7_MeTrfase pfam_Pox_MCEL,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 154 0 0.00 95 40 29.63 - - - RP9P 0 genome.wustl.edu 37 7 32956881 32956881 + RNA SNP A A G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 32956881 32956881 A G SNP RP9P ENST00000381639 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RP9P HGNC ENSG00000205763 32 0 0.00 43 5 10.42 - - - RPLP0 0 genome.wustl.edu 37 12 120638628 120638628 + RNA SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 120638628 120638628 G C SNP RPLP0 ENST00000550296 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RPLP0 HGNC ENSG00000089157 22 0 0.00 6 6 50.00 - - - RPS5 0 genome.wustl.edu 37 19 58899511 58899511 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 58899511 58899511 G A SNP RPS5 ENST00000196551 human ensembl 69_37n +1 known missense c.7 p.E3K 0.998 NULL pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 52 0 0.00 42 7 14.29 - - - RPS6KA6 0 genome.wustl.edu 37 X 83372093 83372093 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 83372093 83372093 G A SNP RPS6KA6 ENST00000262752 human ensembl 69_37n -1 known silent c.924 p.F308 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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_cat_dom - no_errors RPS6KA6 HGNC ENSG00000072133 81 0 0.00 37 10 21.28 - - - RPS6KB1 0 genome.wustl.edu 37 17 57970672 57970672 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 57970672 57970672 G A SNP RPS6KB1 ENST00000225577 human ensembl 69_37n +1 known missense c.127 p.E43K 1.000 pirsf_Ribosomal_S6_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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,pfscan_Prot_kinase_cat_dom - no_errors RPS6KB1 HGNC ENSG00000108443 38 0 0.00 48 9 15.79 - - - RQCD1 0 genome.wustl.edu 37 2 219457418 219457418 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 219457418 219457418 C T SNP RQCD1 ENST00000509807 human ensembl 69_37n +1 known missense c.815 p.S272L 1.000 pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold - no_errors RQCD1 HGNC ENSG00000144580 53 0 0.00 48 13 21.31 - - - RTCA 0 genome.wustl.edu 37 1 100741174 100741174 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 100741174 100741174 C G SNP RTCA ENST00000260563 human ensembl 69_37n +1 known missense c.674 p.A225G 0.843 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'_term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'_term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 - no_errors RTCA HGNC ENSG00000137996 99 0 0.00 37 15 28.85 - - - RUNDC1 0 genome.wustl.edu 37 17 41143047 41143047 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 41143047 41143047 G A SNP RUNDC1 ENST00000361677 human ensembl 69_37n +1 known missense c.1156 p.E386K 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 26 0 0.00 16 6 27.27 - - - RUNDC1 0 genome.wustl.edu 37 17 41143193 41143193 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 41143193 41143193 G A SNP RUNDC1 ENST00000361677 human ensembl 69_37n +1 known silent c.1302 p.V434 0.998 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 37 0 0.00 12 8 40.00 - - - RXFP2 0 genome.wustl.edu 37 13 32366114 32366114 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 32366114 32366114 G A SNP RXFP2 ENST00000298386 human ensembl 69_37n +1 known missense c.1317 p.M439I 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_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_supfam,prints_Relaxin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP2 HGNC ENSG00000133105 102 0 0.00 82 30 26.79 - - - RYR1 0 genome.wustl.edu 37 19 39070708 39070708 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 39070708 39070708 C G SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.14451 p.I4817M 0.989 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 42 0 0.00 19 5 20.83 - - - RYR2 0 genome.wustl.edu 37 1 237586541 237586541 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 237586541 237586541 C T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.992 p.S331F 1.000 pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 32 0 0.00 49 10 16.95 - - - RYR2 0 genome.wustl.edu 37 1 237972300 237972300 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 237972300 237972300 G A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.14416 p.D4806N 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 95 0 0.00 91 31 25.41 - - - RYR2 0 genome.wustl.edu 37 1 237994830 237994830 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 237994830 237994830 C G SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.14791 p.L4931V 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 126 0 0.00 137 30 17.96 - - - RYR3 0 genome.wustl.edu 37 15 33825550 33825550 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 33825550 33825550 C A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.393 p.D131E 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 73 0 0.00 45 11 19.64 - - - SART3 0 genome.wustl.edu 37 12 108954579 108954579 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 108954579 108954579 G A SNP SART3 ENST00000546611 human ensembl 69_37n -1 known nonsense c.352 p.Q118* 0.016 NULL NULL - no_errors SART3 HGNC ENSG00000075856 49 0 0.00 18 11 37.93 - - - SBF1 0 genome.wustl.edu 37 22 50898965 50898965 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 50898965 50898965 G A SNP SBF1 ENST00000380817 human ensembl 69_37n -1 known silent c.3144 p.L1048 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 50 0 0.00 28 8 22.22 - - - SBF1 0 genome.wustl.edu 37 22 50899061 50899061 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 50899061 50899061 G C SNP SBF1 ENST00000380817 human ensembl 69_37n -1 known nonsense c.3048 p.Y1016* 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 33 0 0.00 17 7 29.17 - - - SBF1 0 genome.wustl.edu 37 22 50899605 50899605 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 50899605 50899605 G A SNP SBF1 ENST00000380817 human ensembl 69_37n -1 known missense c.2950 p.R984C 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 57 0 0.00 20 10 33.33 - - - SCAF4 0 genome.wustl.edu 37 21 33044346 33044346 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 21 33044346 33044346 C T SNP SCAF4 ENST00000286835 human ensembl 69_37n -1 known missense c.2810 p.R937K 0.958 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 48 0 0.00 40 5 11.11 - - - SCARA5 0 genome.wustl.edu 37 8 27762283 27762283 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 27762283 27762283 G A SNP SCARA5 ENST00000524352 human ensembl 69_37n -1 known silent c.1165 p.L389 0.000 NULL pfam_Collagen - no_errors SCARA5 HGNC ENSG00000168079 128 0 0.00 84 22 20.75 - - - SCMH1 0 genome.wustl.edu 37 1 41579178 41579178 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 41579178 41579178 G A SNP SCMH1 ENST00000326197 human ensembl 69_37n -1 known silent c.492 p.H164 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 64 0 0.00 46 11 19.30 - - - SCN1A 0 genome.wustl.edu 37 2 166904221 166904221 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 166904221 166904221 G T SNP SCN1A ENST00000303395 human ensembl 69_37n -1 known nonsense c.1086 p.Y362* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 90 0 0.00 49 19 27.94 - - - SCN9A 0 genome.wustl.edu 37 2 167129104 167129104 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 167129104 167129104 G A SNP SCN9A ENST00000303354 human ensembl 69_37n -1 known silent c.3159 p.F1053 0.670 pfam_Na_trans_assoc 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 153 0 0.00 95 46 32.62 - - - SCYL3 0 genome.wustl.edu 37 1 169828266 169828266 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 169828266 169828266 C G SNP SCYL3 ENST00000367770 human ensembl 69_37n -1 known missense c.1228 p.E410Q 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom - no_errors SCYL3 HGNC ENSG00000000457 106 0 0.00 76 25 24.27 - - - SDK1 0 genome.wustl.edu 37 7 4281470 4281470 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 4281470 4281470 G A SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known missense c.6176 p.G2059E 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 51 0 0.00 27 7 20.59 - - - SEL1L 0 genome.wustl.edu 37 14 81993170 81993170 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 81993170 81993170 C G SNP SEL1L ENST00000336735 human ensembl 69_37n -1 known missense c.247 p.E83Q 0.999 NULL pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 130 0 0.00 103 24 18.90 - - - SEL1L3 0 genome.wustl.edu 37 4 25806285 25806285 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 25806285 25806285 G A SNP SEL1L3 ENST00000399878 human ensembl 69_37n -1 known missense c.1654 p.H552Y 0.991 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 103 0 0.00 76 22 22.45 - - - SEMA4A 0 genome.wustl.edu 37 1 156128490 156128490 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 156128490 156128490 C T SNP SEMA4A ENST00000470306 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SEMA4A HGNC ENSG00000196189 35 0 0.00 27 10 26.32 - - - SEMA4D 0 genome.wustl.edu 37 9 91977111 91977111 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 91977111 91977111 C G SNP SEMA4D ENST00000469653 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SEMA4D HGNC ENSG00000187764 17 0 0.00 21 9 30.00 - - - SEPT10 0 genome.wustl.edu 37 2 110310693 110310693 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 110310693 110310693 C T SNP SEPT10 ENST00000397712 human ensembl 69_37n -1 known missense c.1132 p.E378K 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT10 HGNC ENSG00000186522 204 0 0.00 145 41 21.58 - - - SETD2 0 genome.wustl.edu 37 3 47163682 47163682 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 47163682 47163682 G T SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known nonsense c.2444 p.S815* 0.987 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 66 0 0.00 44 11 20.00 - - - SETD2 0 genome.wustl.edu 37 3 47163993 47163993 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 47163993 47163993 G A SNP SETD2 ENST00000445387 human ensembl 69_37n -1 known nonsense c.1033 p.Q345* 0.377 NULL pfam_SET_dom,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SETD2 HGNC ENSG00000181555 50 0 0.00 27 14 34.15 - - - SETD2 0 genome.wustl.edu 37 3 47165816 47165816 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 47165816 47165816 G A SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known missense c.310 p.P104S 0.997 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 135 0 0.00 91 30 24.59 - - - SF3B4 0 genome.wustl.edu 37 1 149898614 149898614 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 149898614 149898614 G A SNP SF3B4 ENST00000271628 human ensembl 69_37n -1 known silent c.360 p.F120 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 103 0 0.00 84 27 24.32 - - - SGPP1 0 genome.wustl.edu 37 14 64153287 64153287 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 64153287 64153287 G C SNP SGPP1 ENST00000247225 human ensembl 69_37n -1 known missense c.862 p.H288D 0.978 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC ENSG00000126821 43 0 0.00 29 13 30.95 - - - SGSM1 0 genome.wustl.edu 37 22 25308675 25308675 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 25308675 25308675 G A SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.3049 p.G1017S 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 78 0 0.00 56 8 12.31 - - - SH3BP4 0 genome.wustl.edu 37 2 235950431 235950431 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 235950431 235950431 C T SNP SH3BP4 ENST00000344528 human ensembl 69_37n +1 known missense c.1018 p.H340Y 1.000 pfam_ZU5 pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 8 0 0.00 5 4 44.44 - - - SH3GL2 0 genome.wustl.edu 37 9 17747112 17747112 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 17747112 17747112 G A SNP SH3GL2 ENST00000380607 human ensembl 69_37n +1 known missense c.94 p.D32N 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 52 0 0.00 49 15 22.73 - - - SHANK2 0 genome.wustl.edu 37 11 70331427 70331427 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 70331427 70331427 G C SNP SHANK2 ENST00000338508 human ensembl 69_37n -1 known silent c.4974 p.L1658 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 39 0 0.00 38 5 11.63 - - - SHANK2 0 genome.wustl.edu 37 11 70507864 70507864 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 70507864 70507864 C T SNP SHANK2 ENST00000449833 human ensembl 69_37n -1 known missense c.9 p.M3I 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK2 HGNC ENSG00000162105 61 0 0.00 35 10 22.22 - - - SHPRH 0 genome.wustl.edu 37 6 146256180 146256180 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 146256180 146256180 C T SNP SHPRH ENST00000367503 human ensembl 69_37n -1 known silent c.2853 p.K951 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 60 0 0.00 40 6 13.04 - - - SHROOM4 0 genome.wustl.edu 37 X 50377931 50377931 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 50377931 50377931 G C SNP SHROOM4 ENST00000289292 human ensembl 69_37n -1 known missense c.1142 p.S381C 0.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 33 0 0.00 14 9 37.50 - - - SKOR1 0 genome.wustl.edu 37 15 68118403 68118403 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 68118403 68118403 G C SNP SKOR1 ENST00000380035 human ensembl 69_37n +1 known missense c.237 p.E79D 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 16 0 0.00 20 5 20.00 - - - SLA 0 genome.wustl.edu 37 8 134050912 134050912 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 134050912 134050912 G C SNP SLA ENST00000427060 human ensembl 69_37n -1 known missense c.808 p.R270G 0.995 NULL pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 66 0 0.00 47 13 21.67 - - - SLAMF9 0 genome.wustl.edu 37 1 159921619 159921619 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 159921619 159921619 G A SNP SLAMF9 ENST00000368093 human ensembl 69_37n -1 known silent c.702 p.F234 0.878 NULL pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF9 HGNC ENSG00000162723 53 0 0.00 80 9 10.00 - - - SLC14A1 0 genome.wustl.edu 37 18 43314269 43314269 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 43314269 43314269 C A SNP SLC14A1 ENST00000415427 human ensembl 69_37n +1 known nonsense c.540 p.Y180* 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A1 HGNC ENSG00000141469 141 0 0.00 95 24 20.17 - - - SLC16A1 0 genome.wustl.edu 37 1 113460161 113460161 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 113460161 113460161 C G SNP SLC16A1 ENST00000369626 human ensembl 69_37n -1 known missense c.867 p.K289N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 34 0 0.00 42 14 25.00 - - - SLC16A6 0 genome.wustl.edu 37 17 66267692 66267692 + Silent SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 66267692 66267692 G T SNP SLC16A6 ENST00000327268 human ensembl 69_37n -1 known silent c.609 p.I203 0.001 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 65 0 0.00 85 20 19.05 - - - SLC22A7 0 genome.wustl.edu 37 6 43267186 43267186 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 43267186 43267186 C T SNP SLC22A7 ENST00000372585 human ensembl 69_37n +1 known missense c.458 p.A153V 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 137 0 0.00 66 19 22.35 - - - SLC25A20 0 genome.wustl.edu 37 3 48896537 48896537 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 48896537 48896537 G A SNP SLC25A20 ENST00000319017 human ensembl 69_37n -1 known nonsense c.706 p.R236* 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A20 HGNC ENSG00000178537 36 0 0.00 13 7 35.00 - - - SLC25A44 0 genome.wustl.edu 37 1 156180300 156180300 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 156180300 156180300 C G SNP SLC25A44 ENST00000469537 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SLC25A44 HGNC ENSG00000160785 14 0 0.00 11 7 38.89 - - - SLC26A8 0 genome.wustl.edu 37 6 35918970 35918970 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 35918970 35918970 C T SNP SLC26A8 ENST00000355574 human ensembl 69_37n -1 known silent c.2442 p.V814 0.999 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 93 0 0.00 40 12 22.64 - - - SLC30A5 0 genome.wustl.edu 37 5 68414432 68414432 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 68414432 68414432 G A SNP SLC30A5 ENST00000396591 human ensembl 69_37n +1 known missense c.1546 p.E516K 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 210 0 0.00 139 54 27.98 - - - SLC31A2 0 genome.wustl.edu 37 9 115925089 115925089 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 115925089 115925089 C A SNP SLC31A2 ENST00000259392 human ensembl 69_37n +1 known nonsense c.324 p.Y108* 1.000 pfam_Cop_transporter pfam_Cop_transporter - no_errors SLC31A2 HGNC ENSG00000136867 143 0 0.00 110 19 14.73 - - - SLC4A1AP 0 genome.wustl.edu 37 2 27917512 27917512 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 27917512 27917512 G C SNP SLC4A1AP ENST00000326019 human ensembl 69_37n +1 known missense c.2353 p.D785H 1.000 NULL pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 125 0 0.00 72 25 25.77 - - - SLC4A5 0 genome.wustl.edu 37 2 74483038 74483038 + Nonsense_Mutation SNP T T A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 74483038 74483038 T A SNP SLC4A5 ENST00000357822 human ensembl 69_37n -1 known nonsense c.889 p.K297* 1.000 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 39 0 0.00 27 9 25.00 - - - SLC4A5 0 genome.wustl.edu 37 2 74483039 74483039 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 74483039 74483039 C T SNP SLC4A5 ENST00000357822 human ensembl 69_37n -1 known silent c.888 p.K296 1.000 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 39 0 0.00 27 9 25.00 - - - SLC5A7 0 genome.wustl.edu 37 2 108618395 108618395 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 108618395 108618395 G A SNP SLC5A7 ENST00000264047 human ensembl 69_37n +1 known missense c.640 p.D214N 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 135 0 0.00 74 33 30.84 - - - SLC5A7 0 genome.wustl.edu 37 2 108626921 108626921 + Silent SNP A A G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 108626921 108626921 A G SNP SLC5A7 ENST00000264047 human ensembl 69_37n +1 known silent c.1347 p.G449 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 136 0 0.00 77 23 23.00 - - - SLC6A2 0 genome.wustl.edu 37 16 55729244 55729244 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 55729244 55729244 C T SNP SLC6A2 ENST00000219833 human ensembl 69_37n +1 known silent c.1077 p.F359 0.807 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 58 0 0.00 17 12 41.38 - - - SLC9A1 0 genome.wustl.edu 37 1 27436083 27436083 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 27436083 27436083 G A SNP SLC9A1 ENST00000263980 human ensembl 69_37n -1 known silent c.999 p.F333 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 65 0 0.00 27 8 22.86 - - - SLC9B2 0 genome.wustl.edu 37 4 103949982 103949982 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 103949982 103949982 C T SNP SLC9B2 ENST00000362026 human ensembl 69_37n -1 known silent c.1314 p.L438 0.728 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 73 0 0.00 52 11 17.46 - - - SLC9C2 0 genome.wustl.edu 37 1 173504976 173504976 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 173504976 173504976 G T SNP SLC9C2 ENST00000367714 human ensembl 69_37n -1 known missense c.1768 p.P590T 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 37 0 0.00 47 7 12.96 - - - SLCO1C1 0 genome.wustl.edu 37 12 20852638 20852638 + Missense_Mutation SNP A A C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 20852638 20852638 A C SNP SLCO1C1 ENST00000381552 human ensembl 69_37n +1 known missense c.128 p.K43T 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 38 0 0.00 26 10 27.78 - - - SLITRK5 0 genome.wustl.edu 37 13 88328417 88328417 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 88328417 88328417 G A SNP SLITRK5 ENST00000325089 human ensembl 69_37n +1 known silent c.774 p.L258 0.997 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 40 0 0.00 24 6 20.00 - - - SLK 0 genome.wustl.edu 37 10 105758977 105758977 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 105758977 105758977 G A SNP SLK ENST00000369755 human ensembl 69_37n +1 known missense c.688 p.E230K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 41 0 0.00 38 7 15.56 - - - SMAD2 0 genome.wustl.edu 37 18 45368211 45368211 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 45368211 45368211 G C SNP SMAD2 ENST00000262160 human ensembl 69_37n -1 known nonsense c.1391 p.S464* 1.000 pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 81 0 0.00 56 23 29.11 - - - SMARCA2 0 genome.wustl.edu 37 9 2039663 2039663 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 2039663 2039663 C T SNP SMARCA2 ENST00000349721 human ensembl 69_37n +1 known nonsense c.553 p.Q185* 1.000 pfam_Gln-Leu-Gln_QLQ,smart_Gln-Leu-Gln_QLQ pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 42 0 0.00 28 4 12.50 - - - SMARCC1 0 genome.wustl.edu 37 3 47676820 47676820 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 47676820 47676820 C T SNP SMARCC1 ENST00000254480 human ensembl 69_37n -1 known missense c.2506 p.E836K 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 165 0 0.00 122 28 18.67 - - - SMC3 0 genome.wustl.edu 37 10 112362728 112362728 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 112362728 112362728 C T SNP SMC3 ENST00000361804 human ensembl 69_37n +1 known missense c.3443 p.A1148V 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 84 0 0.00 79 16 16.84 - - - SMCHD1 0 genome.wustl.edu 37 18 2666919 2666919 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 2666919 2666919 C T SNP SMCHD1 ENST00000320876 human ensembl 69_37n +1 known nonsense c.313 p.Q105* 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 45 0 0.00 40 10 20.00 - - - SMG1 0 genome.wustl.edu 37 16 18827805 18827805 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 18827805 18827805 G C SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known nonsense c.10124 p.S3375* 1.000 NULL 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 SMG1 HGNC ENSG00000157106 70 0 0.00 52 7 11.86 - - - SMG1 0 genome.wustl.edu 37 16 18895441 18895441 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 18895441 18895441 G C SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known missense c.1070 p.S357C 1.000 superfamily_ARM-type_fold 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 SMG1 HGNC ENSG00000157106 46 0 0.00 36 8 18.18 - - - SMO 0 genome.wustl.edu 37 7 128845151 128845151 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 128845151 128845151 C G SNP SMO ENST00000249373 human ensembl 69_37n +1 known missense c.645 p.I215M 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 40 0 0.00 25 9 26.47 - - - SMTNL1 0 genome.wustl.edu 37 11 57310448 57310448 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 57310448 57310448 G A SNP SMTNL1 ENST00000457912 human ensembl 69_37n +1 known missense c.387 p.M129I 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 58 0 0.00 22 7 23.33 - - - SNORA29 0 genome.wustl.edu 37 6 160206679 160206679 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 160206679 160206679 C G SNP SNORA29 ENST00000384183 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SNORA29 HGNC ENSG00000206910 12 0 0.00 13 4 23.53 - - - SNX13 0 genome.wustl.edu 37 7 17873687 17873687 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 17873687 17873687 C G SNP SNX13 ENST00000428135 human ensembl 69_37n -1 novel missense c.1585 p.D529H 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX13 HGNC ENSG00000071189 77 0 0.00 58 7 10.77 - - - SNX15 0 genome.wustl.edu 37 11 64802327 64802327 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 64802327 64802327 G A SNP SNX15 ENST00000377244 human ensembl 69_37n +1 known missense c.265 p.E89K 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_MIT,pfam_Phox,superfamily_Phox,smart_Phox,smart_MIT,pfscan_Phox - no_errors SNX15 HGNC ENSG00000110025 29 0 0.00 5 8 61.54 - - - SNX16 0 genome.wustl.edu 37 8 82736169 82736169 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 82736169 82736169 C G SNP SNX16 ENST00000345957 human ensembl 69_37n -1 known missense c.469 p.E157Q 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX16 HGNC ENSG00000104497 63 0 0.00 61 27 30.68 - - - SNX17 0 genome.wustl.edu 37 2 27599023 27599023 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 27599023 27599023 G A SNP SNX17 ENST00000233575 human ensembl 69_37n +1 known silent c.1155 p.V385 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 34 0 0.00 32 4 11.11 - - - SOGA1 0 genome.wustl.edu 37 20 35467841 35467841 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 35467841 35467841 C T SNP SOGA1 ENST00000237536 human ensembl 69_37n -1 novel missense c.691 p.E231K 1.000 NULL pfam_DUF3166 - no_errors SOGA1 HGNC ENSG00000149639 36 0 0.00 10 5 33.33 - - - SORBS1 0 genome.wustl.edu 37 10 97117484 97117484 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 97117484 97117484 C T SNP SORBS1 ENST00000361941 human ensembl 69_37n -1 known missense c.2032 p.E678K 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 63 0 0.00 38 16 29.63 - - - SOS2 0 genome.wustl.edu 37 14 50671070 50671070 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 50671070 50671070 C A SNP SOS2 ENST00000216373 human ensembl 69_37n -1 known nonsense c.145 p.E49* 1.000 superfamily_Histone-fold pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 72 0 0.00 72 10 12.20 - - - SOX5 0 genome.wustl.edu 37 12 23728724 23728724 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 23728724 23728724 C T SNP SOX5 ENST00000451604 human ensembl 69_37n -1 known missense c.1213 p.D405N 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC ENSG00000134532 142 0 0.00 120 38 24.05 - - - SPAG4 0 genome.wustl.edu 37 20 34208630 34208630 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 34208630 34208630 G A SNP SPAG4 ENST00000374273 human ensembl 69_37n +1 known missense c.1102 p.E368K 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 48 0 0.00 33 14 29.79 - - - SPATA1 0 genome.wustl.edu 37 1 84991642 84991642 + RNA SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 84991642 84991642 G C SNP SPATA1 ENST00000370638 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SPATA1 HGNC ENSG00000122432 37 0 0.00 36 5 12.20 - - - SPEG 0 genome.wustl.edu 37 2 220341673 220341673 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 220341673 220341673 G A SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel missense c.4529 p.G1510E 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 44 0 0.00 18 5 21.74 - - - SPICE1 0 genome.wustl.edu 37 3 113169309 113169309 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 113169309 113169309 C T SNP SPICE1 ENST00000295872 human ensembl 69_37n -1 known missense c.2197 p.E733K 1.000 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 92 0 0.00 62 11 15.07 - - - SPPL3 0 genome.wustl.edu 37 12 121220515 121220515 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 121220515 121220515 G A SNP SPPL3 ENST00000353487 human ensembl 69_37n -1 known silent c.445 p.L149 0.999 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 - no_errors SPPL3 HGNC ENSG00000157837 52 0 0.00 51 17 25.00 - - - SPTLC2 0 genome.wustl.edu 37 14 77978728 77978728 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 77978728 77978728 C T SNP SPTLC2 ENST00000216484 human ensembl 69_37n -1 known missense c.1588 p.E530K 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC ENSG00000100596 79 0 0.00 52 18 25.35 - - - SPTY2D1 0 genome.wustl.edu 37 11 18633094 18633094 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 18633094 18633094 C T SNP SPTY2D1 ENST00000336349 human ensembl 69_37n -1 known missense c.1894 p.D632N 1.000 pfam_Chromatin_SPT2,smart_Chromatin_SPT2 pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 156 0 0.00 146 17 10.43 - - - SRGAP1 0 genome.wustl.edu 37 12 64505738 64505738 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 64505738 64505738 G A SNP SRGAP1 ENST00000355086 human ensembl 69_37n +1 known missense c.2116 p.E706K 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 104 0 0.00 72 15 17.24 - - - SRM 0 genome.wustl.edu 37 1 11116764 11116764 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 11116764 11116764 G T SNP SRM ENST00000376957 human ensembl 69_37n -1 known nonsense c.432 p.Y144* 1.000 pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase - no_errors SRM HGNC ENSG00000116649 91 0 0.00 49 12 19.67 - - - SRR 0 genome.wustl.edu 37 17 2227019 2227019 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 2227019 2227019 C G SNP SRR ENST00000344595 human ensembl 69_37n +1 known missense c.875 p.A292G 1.000 pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu - no_errors SRR HGNC ENSG00000167720 105 1 0.94 51 19 27.14 - - - SRR 0 genome.wustl.edu 37 17 2227020 2227020 + Silent SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 2227020 2227020 T G SNP SRR ENST00000344595 human ensembl 69_37n +1 known silent c.876 p.A292 1.000 pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu - no_errors SRR HGNC ENSG00000167720 93 0 0.00 52 15 22.06 - - - SRSF9 0 genome.wustl.edu 37 12 120899912 120899912 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 120899912 120899912 G T SNP SRSF9 ENST00000229390 human ensembl 69_37n -1 known nonsense c.576 p.Y192* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF9 HGNC ENSG00000111786 65 0 0.00 32 10 23.81 - - - STAB2 0 genome.wustl.edu 37 12 104134419 104134419 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 104134419 104134419 G C SNP STAB2 ENST00000388887 human ensembl 69_37n +1 known missense c.5766 p.Q1922H 0.996 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 34 0 0.00 12 7 36.84 - - - STAC 0 genome.wustl.edu 37 3 36534670 36534670 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 36534670 36534670 G A SNP STAC ENST00000273183 human ensembl 69_37n +1 known missense c.715 p.E239K 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors STAC HGNC ENSG00000144681 74 0 0.00 38 11 22.45 - - - STARD9 0 genome.wustl.edu 37 15 42980217 42980217 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 42980217 42980217 C G SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known missense c.6441 p.I2147M 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 24 0 0.00 22 6 21.43 - - - STAT1 0 genome.wustl.edu 37 2 191850372 191850372 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 191850372 191850372 C G SNP STAT1 ENST00000361099 human ensembl 69_37n -1 known missense c.1236 p.Q412H 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_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 130 0 0.00 89 38 29.92 - - - STX1A 0 genome.wustl.edu 37 7 73117062 73117062 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 73117062 73117062 G A SNP STX1A ENST00000395154 human ensembl 69_37n -1 putative missense c.791 p.S264L 0.991 NULL pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,pfscan_T_SNARE_dom - no_errors STX1A HGNC ENSG00000106089 11 0 0.00 9 5 35.71 - - - SVOP 0 genome.wustl.edu 37 12 109316518 109316518 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 109316518 109316518 C T SNP SVOP ENST00000299134 human ensembl 69_37n -1 known silent c.908 p.*303 0.998 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SVOP HGNC ENSG00000166111 108 0 0.00 57 23 28.05 - - - SVOP 0 genome.wustl.edu 37 12 109366203 109366203 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 109366203 109366203 G C SNP SVOP ENST00000550436 human ensembl 69_37n -1 known nonsense c.50 p.S17* 1.000 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region SVOP HGNC ENSG00000166111 97 0 0.00 62 18 22.22 - - - SYNE1 0 genome.wustl.edu 37 6 152782834 152782834 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 152782834 152782834 C G SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.2292 p.K764N 0.587 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 87 0 0.00 56 27 32.14 - - - SYNPO2 0 genome.wustl.edu 37 4 119951999 119951999 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 119951999 119951999 G A SNP SYNPO2 ENST00000307142 human ensembl 69_37n +1 known missense c.2069 p.R690K 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 59 0 0.00 61 15 19.74 - - - SYNRG 0 genome.wustl.edu 37 17 35902444 35902444 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 35902444 35902444 G A SNP SYNRG ENST00000339208 human ensembl 69_37n -1 known silent c.2832 p.L944 0.673 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 64 0 0.00 46 27 36.99 - - - SYT1 0 genome.wustl.edu 37 12 79689854 79689854 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 79689854 79689854 G C SNP SYT1 ENST00000549559 human ensembl 69_37n +1 novel missense c.185 p.W62S 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SYT1 HGNC ENSG00000067715 61 0 0.00 35 13 27.08 - - - SYT14 0 genome.wustl.edu 37 1 210187039 210187039 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 210187039 210187039 C T SNP SYT14 ENST00000422431 human ensembl 69_37n +1 known silent c.258 p.L86 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT14 HGNC ENSG00000143469 227 0 0.00 257 53 17.10 - - - SYTL2 0 genome.wustl.edu 37 11 85436737 85436737 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 85436737 85436737 C T SNP SYTL2 ENST00000359152 human ensembl 69_37n -1 known missense c.2335 p.G779R 0.011 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 64 0 0.00 47 8 14.55 - - - TACR3 0 genome.wustl.edu 37 4 104579457 104579457 + Nonsense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 104579457 104579457 G A SNP TACR3 ENST00000304883 human ensembl 69_37n -1 known nonsense c.652 p.Q218* 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NK1_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 82 0 0.00 52 12 18.75 - - - TAF1A 0 genome.wustl.edu 37 1 222750952 222750952 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 222750952 222750952 G A SNP TAF1A ENST00000350027 human ensembl 69_37n -1 known missense c.439 p.H147Y 1.000 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 87 0 0.00 110 17 13.39 - - - TAF4B 0 genome.wustl.edu 37 18 23866325 23866325 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 23866325 23866325 G A SNP TAF4B ENST00000269142 human ensembl 69_37n +1 known silent c.1452 p.V484 0.468 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 47 0 0.00 38 19 33.33 - - - TAF4B 0 genome.wustl.edu 37 18 23901147 23901147 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 23901147 23901147 C T SNP TAF4B ENST00000269142 human ensembl 69_37n +1 known nonsense c.2116 p.R706* 0.997 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 33 0 0.00 31 11 25.58 - - - TARBP1 0 genome.wustl.edu 37 1 234528352 234528352 + RNA SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 234528352 234528352 G C SNP TARBP1 ENST00000471918 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TARBP1 HGNC ENSG00000059588 47 0 0.00 65 12 15.58 - - - TARBP2 0 genome.wustl.edu 37 12 53895905 53895905 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 53895905 53895905 G A SNP TARBP2 ENST00000266987 human ensembl 69_37n +1 known missense c.160 p.E54K 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors TARBP2 HGNC ENSG00000139546 47 0 0.00 30 15 32.61 - - - TBC1D4 0 genome.wustl.edu 37 13 75880569 75880569 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 75880569 75880569 C G SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known missense c.2632 p.D878H 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 78 0 0.00 33 18 35.29 - - - TBC1D8 0 genome.wustl.edu 37 2 101670693 101670693 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 101670693 101670693 C A SNP TBC1D8 ENST00000409318 human ensembl 69_37n -1 known nonsense c.508 p.E170* 0.968 pfam_GRAM,smart_GRAM 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 53 0 0.00 19 10 34.48 - - - TBCEL 0 genome.wustl.edu 37 11 120916442 120916442 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 120916442 120916442 G C SNP TBCEL ENST00000422003 human ensembl 69_37n +1 known missense c.43 p.E15Q 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 56 0 0.00 22 8 25.81 - - - TBX19 0 genome.wustl.edu 37 1 168267010 168267010 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 168267010 168267010 G A SNP TBX19 ENST00000367821 human ensembl 69_37n +1 known missense c.652 p.D218N 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX19 HGNC ENSG00000143178 94 0 0.00 109 16 12.80 - - - TBX3 0 genome.wustl.edu 37 12 115120802 115120803 + Frame_Shift_Ins INS - - A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 115120802 115120803 - A INS TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_ins c.204_203 p.L68fs 1.000:1.000 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 16 0 0.00 9 3 25.00 - - - TBX5 0 genome.wustl.edu 37 12 114793599 114793599 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 114793599 114793599 G A SNP TBX5 ENST00000310346 human ensembl 69_37n -1 known missense c.1295 p.S432L 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 20 0 0.00 21 7 25.00 - - - TBX5 0 genome.wustl.edu 37 12 114793746 114793746 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 114793746 114793746 G C SNP TBX5 ENST00000310346 human ensembl 69_37n -1 known missense c.1148 p.S383C 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 48 0 0.00 19 13 40.62 - - - TCF4 0 genome.wustl.edu 37 18 53252513 53252513 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 53252513 53252513 G A SNP TCF4 ENST00000398339 human ensembl 69_37n -1 known missense c.449 p.S150L 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF4 HGNC ENSG00000196628 65 0 0.00 32 9 21.95 - - - TCHH 0 genome.wustl.edu 37 1 152084986 152084986 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 152084986 152084986 C T SNP TCHH ENST00000368804 human ensembl 69_37n -1 known missense c.707 p.R236K 0.011 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 37 0 0.00 44 13 22.81 - - - TCTN2 0 genome.wustl.edu 37 12 124171390 124171390 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 124171390 124171390 C T SNP TCTN2 ENST00000303372 human ensembl 69_37n +1 known missense c.572 p.S191L 0.575 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 36 0 0.00 36 5 12.20 - - - TET2 0 genome.wustl.edu 37 4 106156375 106156375 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 106156375 106156375 C G SNP TET2 ENST00000380013 human ensembl 69_37n +1 known missense c.1276 p.L426V 0.990 NULL NULL - no_errors TET2 HGNC ENSG00000168769 99 0 0.00 66 21 24.14 - - - TET2 0 genome.wustl.edu 37 4 106190766 106190766 + Splice_Site SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 106190766 106190766 G C SNP TET2 ENST00000380013 human ensembl 69_37n +1 known splice_site c.4045-1 e7-1 1.000 - - - no_errors TET2 HGNC ENSG00000168769 48 0 0.00 23 12 34.29 - - - TFAP2A 0 genome.wustl.edu 37 6 10398657 10398657 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 10398657 10398657 C T SNP TFAP2A ENST00000379604 human ensembl 69_37n -1 known missense c.1307 p.R436K 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 54 0 0.00 30 6 16.67 - - - TFDP3 0 genome.wustl.edu 37 X 132351621 132351621 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 132351621 132351621 G C SNP TFDP3 ENST00000310125 human ensembl 69_37n -1 known missense c.667 p.L223V 0.991 pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP3 HGNC ENSG00000183434 133 0 0.00 63 28 30.43 - - - TG 0 genome.wustl.edu 37 8 133883642 133883642 + Nonsense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 133883642 133883642 C A SNP TG ENST00000220616 human ensembl 69_37n +1 known nonsense c.324 p.Y108* 0.395 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 131 0 0.00 75 12 13.64 - - - THOC6 0 genome.wustl.edu 37 16 3077655 3077655 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 3077655 3077655 C T SNP THOC6 ENST00000326266 human ensembl 69_37n +1 known silent c.1023 p.F341 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors THOC6 HGNC ENSG00000131652 51 0 0.00 23 11 32.35 - - - THSD7A 0 genome.wustl.edu 37 7 11446994 11446994 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 11446994 11446994 C T SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known silent c.3855 p.V1285 1.000 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 66 0 0.00 39 7 15.22 - - - TIAM2 0 genome.wustl.edu 37 6 155578203 155578203 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 155578203 155578203 C G SNP TIAM2 ENST00000456144 human ensembl 69_37n +1 known missense c.5141 p.S1714C 0.935 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 67 0 0.00 39 19 32.76 - - - TIMM44 0 genome.wustl.edu 37 19 7993025 7993025 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 7993025 7993025 G A SNP TIMM44 ENST00000270538 human ensembl 69_37n -1 known silent c.1065 p.I355 1.000 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 75 0 0.00 22 5 18.52 - - - TJP2 0 genome.wustl.edu 37 9 71831312 71831312 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 71831312 71831312 G C SNP TJP2 ENST00000539225 human ensembl 69_37n +1 known missense c.265 p.E89Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 69 0 0.00 46 18 28.12 - - - TJP3 0 genome.wustl.edu 37 19 3744005 3744005 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 3744005 3744005 G C SNP TJP3 ENST00000262968 human ensembl 69_37n +1 known missense c.2011 p.E671Q 0.999 smart_Guanylate_kin/L-typ_Ca_channel pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 78 0 0.00 74 9 10.84 - - - TLN1 0 genome.wustl.edu 37 9 35704102 35704102 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 35704102 35704102 C T SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known silent c.6117 p.G2039 0.992 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 32 0 0.00 17 10 37.04 - - - TLR4 0 genome.wustl.edu 37 9 120476417 120476417 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 120476417 120476417 G A SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.2011 p.E671K 0.963 pirsf_Toll-like_receptor,superfamily_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 76 0 0.00 95 14 12.84 - - - TM7SF3 0 genome.wustl.edu 37 12 27126946 27126946 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 27126946 27126946 G A SNP TM7SF3 ENST00000343028 human ensembl 69_37n -1 known silent c.1665 p.L555 0.999 NULL NULL - no_errors TM7SF3 HGNC ENSG00000064115 64 0 0.00 54 11 16.67 - - - TM9SF2 0 genome.wustl.edu 37 13 100211679 100211679 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 100211679 100211679 C G SNP TM9SF2 ENST00000376387 human ensembl 69_37n +1 known missense c.1815 p.I605M 0.980 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 123 0 0.00 77 30 28.04 - - - TMED9 0 genome.wustl.edu 37 5 177022334 177022334 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 177022334 177022334 C T SNP TMED9 ENST00000332598 human ensembl 69_37n +1 known silent c.625 p.L209 1.000 pfam_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED9 HGNC ENSG00000184840 32 0 0.00 13 7 35.00 - - - TMEM180 0 genome.wustl.edu 37 10 104231094 104231094 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 104231094 104231094 C T SNP TMEM180 ENST00000238936 human ensembl 69_37n +1 known missense c.769 p.L257F 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 57 0 0.00 23 7 23.33 - - - TMEM214 0 genome.wustl.edu 37 2 27260482 27260482 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 27260482 27260482 G C SNP TMEM214 ENST00000238788 human ensembl 69_37n +1 known missense c.1064 p.G355A 1.000 pfam_DUF2359_TMEM214 pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC ENSG00000119777 106 0 0.00 48 10 17.24 - - - TMEM219 0 genome.wustl.edu 37 16 29982865 29982865 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 29982865 29982865 G A SNP TMEM219 ENST00000279396 human ensembl 69_37n +1 known silent c.722 p.*241 0.997 NULL NULL - no_errors TMEM219 HGNC ENSG00000149932 62 0 0.00 67 22 24.72 - - - TMX1 0 genome.wustl.edu 37 14 51721100 51721100 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 51721100 51721100 G A SNP TMX1 ENST00000457354 human ensembl 69_37n +1 known missense c.706 p.E236K 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX1 HGNC ENSG00000139921 89 0 0.00 55 21 27.63 - - - TNIK 0 genome.wustl.edu 37 3 170843929 170843929 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 170843929 170843929 C T SNP TNIK ENST00000436636 human ensembl 69_37n -1 known silent c.1785 p.L595 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 48 0 0.00 34 7 17.07 - - - TOP1 0 genome.wustl.edu 37 20 39744072 39744072 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 39744072 39744072 G C SNP TOP1 ENST00000361337 human ensembl 69_37n +1 known missense c.1700 p.R567T 1.000 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 63 0 0.00 48 13 21.31 - - - TOP3A 0 genome.wustl.edu 37 17 18181268 18181268 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 18181268 18181268 C G SNP TOP3A ENST00000321105 human ensembl 69_37n -1 known missense c.2548 p.D850H 1.000 pfam_Znf_GRF pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 21 0 0.00 40 10 20.00 - - - TP53BP1 0 genome.wustl.edu 37 15 43701291 43701292 + Frame_Shift_Ins INS - - A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 43701291 43701292 - A INS TP53BP1 ENST00000382044 human ensembl 69_37n -1 known frame_shift_ins c.5404_5403 p.N1801fs 1.000:1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 36 0 0.00 29 8 21.62 - - - TRAF5 0 genome.wustl.edu 37 1 211526623 211526623 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 211526623 211526623 C T SNP TRAF5 ENST00000261464 human ensembl 69_37n +1 known silent c.42 p.F14 0.320 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 35 0 0.00 45 7 13.46 - - - TRDMT1 0 genome.wustl.edu 37 10 17203488 17203488 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 17203488 17203488 G A SNP TRDMT1 ENST00000377799 human ensembl 69_37n -1 known missense c.383 p.S128F 1.000 pfam_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 77 0 0.00 69 19 21.35 - - - TRHR 0 genome.wustl.edu 37 8 110100131 110100131 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 110100131 110100131 C T SNP TRHR ENST00000311762 human ensembl 69_37n +1 known silent c.390 p.P130 0.962 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Trelhrm_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Trelhrm_rcpt,prints_Thyrotropin_RHR,prints_7TM_GPCR_Rhodpsn - no_errors TRHR HGNC ENSG00000174417 80 0 0.00 51 18 26.09 - - - TRIM47 0 genome.wustl.edu 37 17 73872388 73872388 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 73872388 73872388 C G SNP TRIM47 ENST00000254816 human ensembl 69_37n -1 known missense c.957 p.Q319H 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM47 HGNC ENSG00000132481 24 0 0.00 5 6 54.55 - - - TRIM6 0 genome.wustl.edu 37 11 5618077 5618077 + RNA SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 11 5618077 5618077 G C SNP TRIM6 ENST00000511284 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TRIM6 HGNC ENSG00000121236 116 0 0.00 107 15 12.30 - - - TRIO 0 genome.wustl.edu 37 5 14465790 14465790 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 14465790 14465790 C G SNP TRIO ENST00000515710 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TRIO HGNC ENSG00000038382 51 0 0.00 44 7 13.73 - - - TRIO 0 genome.wustl.edu 37 5 14480117 14480117 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 14480117 14480117 G A SNP TRIO ENST00000344204 human ensembl 69_37n +1 known silent c.6333 p.L2111 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 67 0 0.00 48 16 25.00 - - - TRMT1 0 genome.wustl.edu 37 19 13216367 13216367 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 13216367 13216367 C T SNP TRMT1 ENST00000357720 human ensembl 69_37n -1 known missense c.1637 p.R546Q 1.000 NULL pfam_tRNA_MeTrfase_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_tRNA_MeTrfase_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 43 0 0.00 17 6 26.09 - - - TSHZ1 0 genome.wustl.edu 37 18 72999858 72999858 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 72999858 72999858 G A SNP TSHZ1 ENST00000580243 human ensembl 69_37n +1 known silent c.2496 p.L832 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 29 0 0.00 9 6 40.00 - - - TSHZ3 0 genome.wustl.edu 37 19 31768073 31768073 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 31768073 31768073 C T SNP TSHZ3 ENST00000240587 human ensembl 69_37n -1 known missense c.2626 p.G876R 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 52 0 0.00 25 16 39.02 - - - TSSK1B 0 genome.wustl.edu 37 5 112769588 112769588 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 112769588 112769588 C G SNP TSSK1B ENST00000390666 human ensembl 69_37n -1 known missense c.949 p.E317Q 0.010 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 75 0 0.00 40 15 27.27 - - - TTC24 0 genome.wustl.edu 37 1 156555599 156555599 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 156555599 156555599 C T SNP TTC24 ENST00000340086 human ensembl 69_37n +1 known missense c.869 p.S290L 0.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TTC24 HGNC ENSG00000187862 66 0 0.00 49 16 24.62 - - - TTC37 0 genome.wustl.edu 37 5 94803617 94803617 + Missense_Mutation SNP A A G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 94803617 94803617 A G SNP TTC37 ENST00000358746 human ensembl 69_37n -1 known missense c.4573 p.Y1525H 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 99 0 0.00 69 10 12.66 - - - TTLL6 0 genome.wustl.edu 37 17 46863601 46863601 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 46863601 46863601 C G SNP TTLL6 ENST00000393382 human ensembl 69_37n -1 known silent c.1686 p.V562 0.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 246 0 0.00 208 46 18.11 - - - TTN 0 genome.wustl.edu 37 2 179558664 179558664 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 179558664 179558664 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.27766 p.E9256K 0.987 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 127 0 0.00 86 31 26.50 - - - TTN 0 genome.wustl.edu 37 2 179612488 179612488 + Missense_Mutation SNP T T C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 179612488 179612488 T C SNP TTN ENST00000360870 human ensembl 69_37n -1 known missense c.14639 p.E4880G 0.954 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 38 0 0.00 31 14 29.79 - - - TTN 0 genome.wustl.edu 37 2 179656840 179656840 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 179656840 179656840 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.1621 p.E541K 1.000 pfam_Titin_Z,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 158 0 0.00 151 53 25.98 - - - TWF1 0 genome.wustl.edu 37 12 44191603 44191603 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 44191603 44191603 G C SNP TWF1 ENST00000325127 human ensembl 69_37n -1 known missense c.619 p.Q207E 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF1 HGNC ENSG00000151239 69 0 0.00 53 16 23.19 - - - TXNL4A 0 genome.wustl.edu 37 18 77737612 77737612 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 77737612 77737612 G A SNP TXNL4A ENST00000269601 human ensembl 69_37n -1 known silent c.243 p.V81 1.000 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4A HGNC ENSG00000141759 65 0 0.00 46 12 20.69 - - - TYW1 0 genome.wustl.edu 37 7 66532313 66532313 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 66532313 66532313 C T SNP TYW1 ENST00000359626 human ensembl 69_37n +1 known silent c.1197 p.F399 1.000 NULL pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 146 0 0.00 80 33 29.20 - - - UBE2L3 0 genome.wustl.edu 37 22 21922054 21922054 + Silent SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 22 21922054 21922054 G T SNP UBE2L3 ENST00000342192 human ensembl 69_37n +1 known silent c.21 p.L7 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_UEV_N,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2L3 HGNC ENSG00000185651 17 0 0.00 11 4 26.67 - - - UBP1 0 genome.wustl.edu 37 3 33451004 33451004 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 33451004 33451004 C G SNP UBP1 ENST00000283628 human ensembl 69_37n -1 known missense c.645 p.Q215H 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors UBP1 HGNC ENSG00000153560 96 0 0.00 70 36 33.96 - - - UBR2 0 genome.wustl.edu 37 6 42532065 42532065 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 42532065 42532065 C G SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known missense c.8 p.S3W 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 54 0 0.00 24 12 33.33 - - - UBXN8 0 genome.wustl.edu 37 8 30601689 30601689 + RNA SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 30601689 30601689 C T SNP UBXN8 ENST00000517341 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors UBXN8 HGNC ENSG00000104691 67 0 0.00 29 11 27.50 - - - UGGT1 0 genome.wustl.edu 37 2 128939725 128939725 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 128939725 128939725 G C SNP UGGT1 ENST00000259253 human ensembl 69_37n +1 known missense c.4105 p.E1369Q 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 67 0 0.00 62 18 22.50 - - - UGP2 0 genome.wustl.edu 37 2 64085017 64085017 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 64085017 64085017 G T SNP UGP2 ENST00000337130 human ensembl 69_37n +1 known nonsense c.202 p.E68* 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 70 0 0.00 47 16 25.40 - - - ULBP2 0 genome.wustl.edu 37 6 150263239 150263239 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 150263239 150263239 C G SNP ULBP2 ENST00000367351 human ensembl 69_37n +1 known missense c.31 p.L11V 0.001 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP2 HGNC ENSG00000131015 63 0 0.00 36 7 16.28 - - - ULK2 0 genome.wustl.edu 37 17 19720149 19720149 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 19720149 19720149 C G SNP ULK2 ENST00000361658 human ensembl 69_37n -1 known missense c.1009 p.D337H 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 73 0 0.00 166 20 10.75 - - - UNC79 0 genome.wustl.edu 37 14 94125583 94125583 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 94125583 94125583 G C SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known missense c.6684 p.K2228N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 80 0 0.00 70 10 12.50 - - - UNC80 0 genome.wustl.edu 37 2 210685294 210685294 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 210685294 210685294 G C SNP UNC80 ENST00000439458 human ensembl 69_37n +1 known missense c.2222 p.G741A 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 56 0 0.00 38 14 26.42 - - - UPF3A 0 genome.wustl.edu 37 13 115048332 115048332 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 115048332 115048332 C T SNP UPF3A ENST00000375299 human ensembl 69_37n +1 known missense c.335 p.S112L 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 146 0 0.00 133 36 21.18 - - - USP15 0 genome.wustl.edu 37 12 62790158 62790158 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 62790158 62790158 G T SNP USP15 ENST00000280377 human ensembl 69_37n +1 known missense c.2654 p.G885V 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC ENSG00000135655 124 0 0.00 110 14 11.20 - - - USP21 0 genome.wustl.edu 37 1 161132413 161132413 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 161132413 161132413 G C SNP USP21 ENST00000289865 human ensembl 69_37n +1 known missense c.790 p.D264H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP21 HGNC ENSG00000143258 50 0 0.00 34 9 20.93 - - - USP34 0 genome.wustl.edu 37 2 61633109 61633109 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 61633109 61633109 C T SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.286 p.D96N 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 115 0 0.00 88 33 27.27 - - - UTRN 0 genome.wustl.edu 37 6 144835051 144835051 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 144835051 144835051 C T SNP UTRN ENST00000367545 human ensembl 69_37n +1 known nonsense c.4951 p.Q1651* 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_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 39 0 0.00 52 10 16.13 - - - UTRN 0 genome.wustl.edu 37 6 145118986 145118986 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 145118986 145118986 G A SNP UTRN ENST00000367545 human ensembl 69_37n +1 known silent c.9105 p.V3035 0.692 pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 76 0 0.00 81 22 21.36 - - - VCL 0 genome.wustl.edu 37 10 75868884 75868884 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 75868884 75868884 C T SNP VCL ENST00000211998 human ensembl 69_37n +1 known silent c.2715 p.L905 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 25 0 0.00 19 14 42.42 - - - VCPIP1 0 genome.wustl.edu 37 8 67546774 67546774 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 67546774 67546774 C G SNP VCPIP1 ENST00000310421 human ensembl 69_37n -1 known missense c.3631 p.E1211Q 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 89 0 0.00 71 11 13.41 - - - VCX 0 genome.wustl.edu 37 X 7811247 7811247 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 7811247 7811247 G C SNP VCX ENST00000381059 human ensembl 69_37n +1 known missense c.3 p.M1I 0.004 NULL NULL - no_errors VCX HGNC ENSG00000182583 163 0 0.00 43 5 10.42 - - - VEZT 0 genome.wustl.edu 37 12 95689989 95689989 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 12 95689989 95689989 G C SNP VEZT ENST00000436874 human ensembl 69_37n +1 known missense c.1786 p.E596Q 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 41 0 0.00 42 20 31.25 - - - VIL1 0 genome.wustl.edu 37 2 219296867 219296867 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 219296867 219296867 C T SNP VIL1 ENST00000248444 human ensembl 69_37n +1 known silent c.1302 p.L434 0.776 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors VIL1 HGNC ENSG00000127831 45 0 0.00 15 9 37.50 - - - VIPAS39 0 genome.wustl.edu 37 14 77900251 77900251 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 77900251 77900251 C T SNP VIPAS39 ENST00000343765 human ensembl 69_37n -1 known silent c.1113 p.L371 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 60 0 0.00 40 8 16.67 - - - VIT 0 genome.wustl.edu 37 2 37041381 37041381 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 37041381 37041381 C G SNP VIT ENST00000379242 human ensembl 69_37n +1 known silent c.1959 p.V653 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 55 0 0.00 21 6 22.22 - - - VN1R4 0 genome.wustl.edu 37 19 53770365 53770365 + Nonsense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 53770365 53770365 G T SNP VN1R4 ENST00000311170 human ensembl 69_37n -1 known nonsense c.554 p.S185* 0.001 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 58 0 0.00 38 8 17.02 - - - VPS13A 0 genome.wustl.edu 37 9 79853230 79853230 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 79853230 79853230 G A SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.1828 p.E610K 0.989 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 81 0 0.00 63 24 27.27 - - - VPS13D 0 genome.wustl.edu 37 1 12381932 12381932 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 12381932 12381932 C G SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.7615 p.Q2539E 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 67 0 0.00 43 15 25.86 - - - VPS33B 0 genome.wustl.edu 37 15 91551139 91551139 + Silent SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 91551139 91551139 C G SNP VPS33B ENST00000333371 human ensembl 69_37n -1 known silent c.459 p.L153 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 65 0 0.00 48 17 26.15 - - - VTI1B 0 genome.wustl.edu 37 14 68129245 68129245 + Missense_Mutation SNP C C A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 68129245 68129245 C A SNP VTI1B ENST00000554659 human ensembl 69_37n -1 known missense c.123 p.K41N 1.000 pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1B HGNC ENSG00000100568 137 0 0.00 116 44 27.50 - - - VWA3A 0 genome.wustl.edu 37 16 22103961 22103961 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 22103961 22103961 G A SNP VWA3A ENST00000389398 human ensembl 69_37n +1 known missense c.3 p.M1I 0.334 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 74 0 0.00 30 19 38.78 - - - VWA8 0 genome.wustl.edu 37 13 42164786 42164786 + Missense_Mutation SNP A A C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 42164786 42164786 A C SNP VWA8 ENST00000379310 human ensembl 69_37n -1 known missense c.5102 p.L1701R 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 80 0 0.00 55 13 19.12 - - - WAC 0 genome.wustl.edu 37 10 28872429 28872429 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 28872429 28872429 G C SNP WAC ENST00000354911 human ensembl 69_37n +1 known missense c.376 p.D126H 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC ENSG00000095787 86 0 0.00 42 18 30.00 - - - WASF2 0 genome.wustl.edu 37 1 27739104 27739104 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 27739104 27739104 G C SNP WASF2 ENST00000430629 human ensembl 69_37n -1 known missense c.786 p.F262L 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 138 0 0.00 90 27 23.08 - - - WDHD1 0 genome.wustl.edu 37 14 55453880 55453880 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 14 55453880 55453880 G T SNP WDHD1 ENST00000360586 human ensembl 69_37n -1 known missense c.1752 p.F584L 0.997 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 48 0 0.00 38 7 15.22 - - - WDR44 0 genome.wustl.edu 37 X 117528092 117528092 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 117528092 117528092 C T SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known nonsense c.901 p.Q301* 1.000 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 WDR44 HGNC ENSG00000131725 114 0 0.00 47 21 30.43 - - - WDR61 0 genome.wustl.edu 37 15 78585121 78585121 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 15 78585121 78585121 C G SNP WDR61 ENST00000267973 human ensembl 69_37n -1 known missense c.156 p.E52D 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR61 HGNC ENSG00000140395 44 0 0.00 27 12 30.77 - - - WIPI2 0 genome.wustl.edu 37 7 5256731 5256731 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 7 5256731 5256731 G A SNP WIPI2 ENST00000288828 human ensembl 69_37n +1 known silent c.489 p.A163 0.002 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 51 0 0.00 44 15 25.00 - - - WLS 0 genome.wustl.edu 37 1 68603524 68603524 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 68603524 68603524 G C SNP WLS ENST00000540432 human ensembl 69_37n -1 known silent c.1455 p.V485 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 55 0 0.00 37 7 15.91 - - - WLS 0 genome.wustl.edu 37 1 68624928 68624928 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 68624928 68624928 C G SNP WLS ENST00000540432 human ensembl 69_37n -1 known missense c.382 p.E128Q 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 46 0 0.00 32 7 17.95 - - - WNK3 0 genome.wustl.edu 37 X 54319739 54319739 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 54319739 54319739 C T SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known missense c.1715 p.G572E 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 63 0 0.00 40 16 28.57 - - - WNT2B 0 genome.wustl.edu 37 1 113010181 113010181 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 113010181 113010181 G T SNP WNT2B ENST00000369686 human ensembl 69_37n +1 known missense c.22 p.V8L 0.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 129 0 0.00 70 16 18.18 - - - WRN 0 genome.wustl.edu 37 8 30969164 30969164 + Missense_Mutation SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 30969164 30969164 T G SNP WRN ENST00000298139 human ensembl 69_37n +1 known missense c.2122 p.S708A 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 73 0 0.00 61 26 29.89 - - - XIRP2 0 genome.wustl.edu 37 2 168102294 168102294 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 168102294 168102294 G A SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known silent c.4392 p.L1464 0.994 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 46 0 0.00 36 14 28.00 - - - XKR4 0 genome.wustl.edu 37 8 56435862 56435862 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 56435862 56435862 C T SNP XKR4 ENST00000327381 human ensembl 69_37n +1 known silent c.1029 p.L343 0.017 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 52 0 0.00 16 21 56.76 - - - YTHDF1 0 genome.wustl.edu 37 20 61833941 61833941 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 20 61833941 61833941 C T SNP YTHDF1 ENST00000370339 human ensembl 69_37n -1 known missense c.1351 p.E451K 1.000 pfam_YTH_domain,pfscan_YTH_domain pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 42 0 0.00 38 13 25.00 - - - ZBTB17 0 genome.wustl.edu 37 1 16270685 16270685 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 16270685 16270685 G A SNP ZBTB17 ENST00000448462 human ensembl 69_37n -1 known missense c.1292 p.S431L 0.002 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 11 0 0.00 8 4 33.33 - - - ZBTB17 0 genome.wustl.edu 37 1 16274922 16274922 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 16274922 16274922 G C SNP ZBTB17 ENST00000375733 human ensembl 69_37n -1 known silent c.69 p.L23 0.986 pfam_BTB_POZ,superfamily_BTB/POZ_fold 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 ZBTB17 HGNC ENSG00000116809 30 0 0.00 13 6 31.58 - - - ZBTB2 0 genome.wustl.edu 37 6 151687572 151687572 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 6 151687572 151687572 G C SNP ZBTB2 ENST00000325144 human ensembl 69_37n -1 known missense c.629 p.P210R 0.998 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 ZBTB2 HGNC ENSG00000181472 70 0 0.00 53 28 34.57 - - - ZBTB7B 0 genome.wustl.edu 37 1 154987144 154987144 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 154987144 154987144 G A SNP ZBTB7B ENST00000417934 human ensembl 69_37n +1 known missense c.110 p.S37N 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 ZBTB7B HGNC ENSG00000160685 28 0 0.00 27 6 17.65 - - - ZC3H13 0 genome.wustl.edu 37 13 46543353 46543353 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 46543353 46543353 G T SNP ZC3H13 ENST00000242848 human ensembl 69_37n -1 known missense c.3326 p.T1109N 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 91 0 0.00 63 14 18.18 - - - ZC3H6 0 genome.wustl.edu 37 2 113057472 113057472 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 113057472 113057472 G A SNP ZC3H6 ENST00000343936 human ensembl 69_37n +1 known missense c.79 p.E27K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 46 0 0.00 45 13 22.41 - - - ZC3H7A 0 genome.wustl.edu 37 16 11862259 11862259 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 11862259 11862259 G C SNP ZC3H7A ENST00000355758 human ensembl 69_37n -1 known silent c.1272 p.T424 0.070 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 93 0 0.00 78 26 24.53 - - - ZDHHC16 0 genome.wustl.edu 37 10 99216747 99216747 + RNA SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 99216747 99216747 G C SNP ZDHHC16 ENST00000487315 human ensembl 69_37n +1 known rna NULL NULL 0.990 - - - no_errors ZDHHC16 HGNC ENSG00000171307 9 0 0.00 5 5 50.00 - - - ZDHHC9 0 genome.wustl.edu 37 X 128946745 128946745 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 128946745 128946745 C T SNP ZDHHC9 ENST00000357166 human ensembl 69_37n -1 known silent c.726 p.L242 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC9 HGNC ENSG00000188706 78 0 0.00 40 9 18.37 - - - ZFX 0 genome.wustl.edu 37 X 24225861 24225861 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 24225861 24225861 G C SNP ZFX ENST00000540034 human ensembl 69_37n +1 known missense c.946 p.E316Q 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 139 0 0.00 85 14 14.14 - - - ZHX1 0 genome.wustl.edu 37 8 124267582 124267582 + Nonsense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 124267582 124267582 G C SNP ZHX1 ENST00000297857 human ensembl 69_37n -1 known nonsense c.605 p.S202* 0.986 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 78 0 0.00 57 22 27.85 - - - ZMYM2 0 genome.wustl.edu 37 13 20601421 20601421 + Missense_Mutation SNP A A T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 13 20601421 20601421 A T SNP ZMYM2 ENST00000382869 human ensembl 69_37n +1 known missense c.1814 p.Y605F 1.000 pfam_Znf_MYM,smart_TRASH pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 154 0 0.00 102 27 20.93 - - - ZMYM4 0 genome.wustl.edu 37 1 35836131 35836131 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 35836131 35836131 C T SNP ZMYM4 ENST00000314607 human ensembl 69_37n +1 known nonsense c.1084 p.Q362* 1.000 pfam_Znf_MYM,smart_TRASH pfam_DUF3504,pfam_Znf_MYM,smart_TRASH - no_errors ZMYM4 HGNC ENSG00000146463 64 0 0.00 41 8 16.33 - - - ZNF124 0 genome.wustl.edu 37 1 247320233 247320233 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 1 247320233 247320233 C G SNP ZNF124 ENST00000543802 human ensembl 69_37n -1 known missense c.691 p.E231Q 0.999 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 ZNF124 HGNC ENSG00000196418 73 0 0.00 83 20 19.42 - - - ZNF16 0 genome.wustl.edu 37 8 146171570 146171570 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 146171570 146171570 C T SNP ZNF16 ENST00000276816 human ensembl 69_37n -1 known missense c.23 p.R8H 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 22 0 0.00 11 5 31.25 - - - ZNF175 0 genome.wustl.edu 37 19 52090056 52090056 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 52090056 52090056 C T SNP ZNF175 ENST00000262259 human ensembl 69_37n +1 known missense c.472 p.H158Y 0.006 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 ZNF175 HGNC ENSG00000105497 54 0 0.00 59 8 11.94 - - - ZNF208 0 genome.wustl.edu 37 19 22155976 22155976 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 22155976 22155976 C G SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known missense c.1860 p.K620N 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 ZNF208 HGNC ENSG00000160321 79 0 0.00 63 24 27.59 - - - ZNF211 0 genome.wustl.edu 37 19 58152607 58152607 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 58152607 58152607 C T SNP ZNF211 ENST00000407202 human ensembl 69_37n +1 putative missense c.763 p.H255Y 0.010 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_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF211 HGNC ENSG00000121417 27 0 0.00 17 11 39.29 - - - ZNF236 0 genome.wustl.edu 37 18 74620457 74620457 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 18 74620457 74620457 C T SNP ZNF236 ENST00000253159 human ensembl 69_37n +1 known nonsense c.2473 p.Q825* 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 24 0 0.00 14 12 46.15 - - - ZNF239 0 genome.wustl.edu 37 10 44053111 44053111 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 10 44053111 44053111 C G SNP ZNF239 ENST00000306006 human ensembl 69_37n -1 known missense c.417 p.Q139H 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF239 HGNC ENSG00000196793 70 0 0.00 66 20 23.26 - - - ZNF280C 0 genome.wustl.edu 37 X 129380846 129380846 + Missense_Mutation SNP T T G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 129380846 129380846 T G SNP ZNF280C ENST00000370978 human ensembl 69_37n -1 known missense c.165 p.K55N 0.999 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 185 0 0.00 102 24 19.05 - - - ZNF285 0 genome.wustl.edu 37 19 44892086 44892086 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 44892086 44892086 G A SNP ZNF285 ENST00000330997 human ensembl 69_37n -1 known silent c.321 p.L107 0.003 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 ZNF285 HGNC ENSG00000267508 58 0 0.00 45 24 34.78 - - - ZNF286A 0 genome.wustl.edu 37 17 15620239 15620239 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 15620239 15620239 C G SNP ZNF286A ENST00000413242 human ensembl 69_37n +1 known missense c.1201 p.Q401E 0.997 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 AC005324.8-001 Clone_based_vega_gene ENSG00000255104 39 0 0.00 40 8 16.67 - - - ZNF43 0 genome.wustl.edu 37 19 21990526 21990526 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 21990526 21990526 G T SNP ZNF43 ENST00000354959 human ensembl 69_37n -1 known missense c.2313 p.F771L 0.819 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 ZNF43 HGNC ENSG00000198521 86 0 0.00 95 11 10.38 - - - ZNF432 0 genome.wustl.edu 37 19 52537917 52537917 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 52537917 52537917 G A SNP ZNF432 ENST00000221315 human ensembl 69_37n -1 known missense c.1015 p.H339Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF432 HGNC ENSG00000256087 81 0 0.00 55 26 32.10 - - - ZNF484 0 genome.wustl.edu 37 9 95609508 95609508 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 95609508 95609508 C T SNP ZNF484 ENST00000395506 human ensembl 69_37n -1 known missense c.1567 p.E523K 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 ZNF484 HGNC ENSG00000127081 76 0 0.00 58 26 30.59 - - - ZNF486 0 genome.wustl.edu 37 19 20307957 20307957 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 20307957 20307957 G C SNP ZNF486 ENST00000335117 human ensembl 69_37n +1 known missense c.438 p.L146F 0.978 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 ZNF486 HGNC ENSG00000256229 95 0 0.00 98 14 12.50 - - - ZNF510 0 genome.wustl.edu 37 9 99521982 99521982 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 9 99521982 99521982 G C SNP ZNF510 ENST00000223428 human ensembl 69_37n -1 known missense c.1130 p.S377C 0.070 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 ZNF510 HGNC ENSG00000081386 94 0 0.00 75 23 23.47 - - - ZNF548 0 genome.wustl.edu 37 19 57910114 57910114 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 57910114 57910114 C T SNP ZNF548 ENST00000336128 human ensembl 69_37n +1 known silent c.495 p.F165 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 ZNF548 HGNC ENSG00000188785 52 0 0.00 32 17 34.69 - - - ZNF550 0 genome.wustl.edu 37 19 58058554 58058554 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 58058554 58058554 C G SNP ZNF550 ENST00000344222 human ensembl 69_37n -1 known missense c.1058 p.R353T 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 AC003682.1 Clone_based_ensembl_gene ENSG00000251369 73 0 0.00 72 9 11.11 - - - ZNF559 0 genome.wustl.edu 37 19 9452833 9452833 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 9452833 9452833 G C SNP ZNF559 ENST00000393883 human ensembl 69_37n +1 known missense c.706 p.D236H 0.004 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 ZNF559 HGNC ENSG00000188321 53 0 0.00 45 8 14.81 - - - ZNF589 0 genome.wustl.edu 37 3 48298098 48298098 + RNA SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 3 48298098 48298098 C G SNP ZNF589 ENST00000454212 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ZNF589 HGNC ENSG00000164048 61 0 0.00 31 14 31.11 - - - ZNF638 0 genome.wustl.edu 37 2 71650077 71650077 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 71650077 71650077 G C SNP ZNF638 ENST00000264447 human ensembl 69_37n +1 known missense c.3433 p.E1145Q 0.992 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 56 0 0.00 37 8 17.78 - - - ZNF700 0 genome.wustl.edu 37 19 12060404 12060404 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 12060404 12060404 C T SNP ZNF700 ENST00000254321 human ensembl 69_37n +1 known missense c.1565 p.S522L 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 ZNF700 HGNC ENSG00000196757 50 0 0.00 36 17 32.08 - - - ZNF703 0 genome.wustl.edu 37 8 37553647 37553647 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 8 37553647 37553647 C T SNP ZNF703 ENST00000331569 human ensembl 69_37n +1 known silent c.150 p.I50 0.979 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF703 HGNC ENSG00000183779 15 0 0.00 4 4 44.44 - - - ZNF711 0 genome.wustl.edu 37 X 84520127 84520127 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 X 84520127 84520127 G T SNP ZNF711 ENST00000395402 human ensembl 69_37n +1 known missense c.716 p.G239V 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 31 0 0.00 35 6 14.63 - - - ZNF721 0 genome.wustl.edu 37 4 438174 438174 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 4 438174 438174 C T SNP ZNF721 ENST00000511833 human ensembl 69_37n -1 known missense c.82 p.E28K 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 49 0 0.00 28 8 22.22 - - - ZNF726 0 genome.wustl.edu 37 19 24116502 24116502 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 24116502 24116502 G A SNP ZNF726 ENST00000322487 human ensembl 69_37n +1 known silent c.1584 p.K528 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF726 HGNC ENSG00000213967 15 0 0.00 20 7 25.93 - - - ZNF805 0 genome.wustl.edu 37 19 57765876 57765876 + Silent SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 57765876 57765876 G C SNP ZNF805 ENST00000414468 human ensembl 69_37n +1 known silent c.1689 p.G563 0.925 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 ZNF805 HGNC ENSG00000204524 73 0 0.00 55 24 30.38 - - - ZNF823 0 genome.wustl.edu 37 19 11832709 11832709 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 11832709 11832709 C T SNP ZNF823 ENST00000341191 human ensembl 69_37n -1 known missense c.1640 p.R547K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF823 HGNC ENSG00000197933 86 0 0.00 68 32 32.00 - - - ZNF836 0 genome.wustl.edu 37 19 52658629 52658629 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 52658629 52658629 C T SNP ZNF836 ENST00000322146 human ensembl 69_37n -1 known silent c.2307 p.R769 0.044 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 ZNF836 HGNC ENSG00000196267 92 0 0.00 61 18 22.78 - - - ZNF85 0 genome.wustl.edu 37 19 21132571 21132571 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 21132571 21132571 G C SNP ZNF85 ENST00000328178 human ensembl 69_37n +1 known missense c.1251 p.K417N 0.597 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 ZNF85 HGNC ENSG00000105750 33 0 0.00 34 14 29.17 - - - ZRANB3 0 genome.wustl.edu 37 2 135965152 135965152 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 2 135965152 135965152 C T SNP ZRANB3 ENST00000264159 human ensembl 69_37n -1 known missense c.2861 p.R954K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 85 0 0.00 71 24 25.26 - - - ZSCAN10 0 genome.wustl.edu 37 16 3140465 3140465 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 16 3140465 3140465 G A SNP ZSCAN10 ENST00000252463 human ensembl 69_37n -1 known missense c.805 p.L269F 0.000 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 ZSCAN10 HGNC ENSG00000130182 30 0 0.00 19 5 20.83 - - - ZSCAN5A 0 genome.wustl.edu 37 19 56733492 56733492 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 19 56733492 56733492 C T SNP ZSCAN5A ENST00000391713 human ensembl 69_37n -1 known missense c.943 p.E315K 0.006 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 ZSCAN5A HGNC ENSG00000131848 128 1 0.78 86 17 16.50 - - - ZSWIM6 0 genome.wustl.edu 37 5 60827328 60827328 + Missense_Mutation SNP A A G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 5 60827328 60827328 A G SNP ZSWIM6 ENST00000252744 human ensembl 69_37n +1 known missense c.2021 p.H674R 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 59 0 0.00 39 19 32.76 - - - ZZEF1 0 genome.wustl.edu 37 17 4005621 4005621 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c8bc172c-0986-481e-a4ce-54fa55db4871 4e47a193-cf64-45ab-afb0-0167661972a2 17 4005621 4005621 C T SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known nonsense c.1662 p.W554* 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 45 0 0.00 34 16 31.37 - - -