Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA8 0 genome.wustl.edu 37 17 66914209 66914209 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 66914209 66914209 C G SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.2026 p.D676H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 tier1 - - 61 0 0.00 45 32 41.56 ABCC9 0 genome.wustl.edu 37 12 22005335 22005335 + Silent SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 22005335 22005335 A G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known silent c.2610 p.T870 0.986 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 84 0 0.00 56 20 26.32 ACP2 0 genome.wustl.edu 37 11 47266688 47266688 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 47266688 47266688 C T SNP ACP2 ENST00000524769 human ensembl 74_37 -1 putative rna NULL NULL 0.454 - - - no_errors ACP2 HGNC ENSG00000134575 tier1 - - 9 0 0.00 5 10 66.67 ADAM22 0 genome.wustl.edu 37 7 87795159 87795159 + Nonsense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 87795159 87795159 G T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known nonsense c.2089 p.E697* 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 52 0 0.00 52 4 7.14 ADAM22 0 genome.wustl.edu 37 7 87795159 87795159 + Nonsense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 87795159 87795159 G T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known nonsense c.2089 p.E697* 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 61 0 0.00 52 4 7.14 AHCTF1 0 genome.wustl.edu 37 1 247013637 247013637 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 247013637 247013637 G A SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.5698 p.L1900 0.001 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 45 0 0.00 42 22 34.38 AHSG 0 genome.wustl.edu 37 3 186333527 186333527 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 186333527 186333527 C T SNP AHSG ENST00000411641 human ensembl 74_37 +1 known silent c.267 p.C89 1.000 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors AHSG HGNC ENSG00000145192 tier1 - - 35 0 0.00 16 36 69.23 AKAP12 0 genome.wustl.edu 37 6 151626944 151626944 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 151626944 151626944 C T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known silent c.225 p.S75 0.142 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 tier1 - - 50 0 0.00 34 7 17.07 ANAPC7 0 genome.wustl.edu 37 12 110813935 110813935 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 110813935 110813935 C T SNP ANAPC7 ENST00000455511 human ensembl 74_37 -1 known missense c.1546 p.G516R 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 tier1 - - 55 0 0.00 55 14 20.29 ARHGDIG 0 genome.wustl.edu 37 16 331883 331883 + Frame_Shift_Del DEL A A - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 331883 331883 A - DEL ARHGDIG ENST00000219409 human ensembl 74_37 +1 known frame_shift_del c.211 p.K71fs 0.316 pfam_Rho_GDI,superfamily_Ig_E-set pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIG HGNC ENSG00000242173 tier1 39 0 0.00 7 5 41.67 ARHGEF10 0 genome.wustl.edu 37 8 1905331 1905331 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 1905331 1905331 C A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.4012 p.Q1338K 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 tier1 - - 11 0 0.00 5 5 50.00 ARHGEF12 0 genome.wustl.edu 37 11 120328461 120328461 + Nonsense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 120328461 120328461 C T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known nonsense c.2164 p.R722* 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 tier1 - - 36 0 0.00 45 13 22.41 ARHGEF38 0 genome.wustl.edu 37 4 106569729 106569729 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 4 106569729 106569729 G A SNP ARHGEF38 ENST00000420470 human ensembl 74_37 +1 putative missense c.898 p.E300K 1.000 NULL pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 tier1 - - 31 0 0.00 29 5 14.71 ASAP2 0 genome.wustl.edu 37 2 9474924 9474924 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 9474924 9474924 G A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known silent c.744 p.L248 0.877 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 tier1 - - 36 0 0.00 33 7 17.50 ASAP2 0 genome.wustl.edu 37 2 9474924 9474924 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 9474924 9474924 G A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known silent c.744 p.L248 0.877 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 tier1 - - 39 0 0.00 33 7 17.50 ASMTL 0 genome.wustl.edu 37 X 1537981 1537981 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 X 1537981 1537981 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known silent c.1272 p.T424 0.144 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 tier1 - - 117 0 0.00 77 21 21.43 ASMTL 0 genome.wustl.edu 37 X 1537981 1537981 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 X 1537981 1537981 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known silent c.1272 p.T424 0.144 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 tier1 - - 94 0 0.00 77 21 21.43 ASXL3 0 genome.wustl.edu 37 18 31226215 31226215 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 18 31226215 31226215 G C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.253 p.E85Q 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 31 0 0.00 22 21 48.84 ASXL3 0 genome.wustl.edu 37 18 31226215 31226215 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 18 31226215 31226215 G C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.253 p.E85Q 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 38 0 0.00 22 21 48.84 ATL3 0 genome.wustl.edu 37 11 63439021 63439021 + RNA SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 63439021 63439021 G A SNP ATL3 ENST00000535789 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATL3 HGNC ENSG00000184743 tier1 - - 75 0 0.00 63 26 29.21 ATP13A5 0 genome.wustl.edu 37 3 193039503 193039503 + Nonsense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 193039503 193039503 C A SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known nonsense c.1882 p.E628* 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 tier1 - - 59 0 0.00 63 4 5.97 ATP13A5 0 genome.wustl.edu 37 3 193039503 193039503 + Nonsense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 193039503 193039503 C A SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known nonsense c.1882 p.E628* 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 tier1 - - 74 0 0.00 63 4 5.97 ATP2B2 0 genome.wustl.edu 37 3 10401655 10401655 + Silent SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 10401655 10401655 G T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.1812 p.S604 0.010 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 35 0 0.00 37 2 5.13 ATP8B2 0 genome.wustl.edu 37 1 154316625 154316625 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 154316625 154316625 G T SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.2029 p.G677C 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 24 0 0.00 24 3 11.11 BCAM 0 genome.wustl.edu 37 19 45322680 45322680 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 45322680 45322680 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known silent c.1551 p.R517 0.047 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 tier1 - - 50 0 0.00 46 6 11.54 BZRAP1 0 genome.wustl.edu 37 17 56388425 56388425 + Silent SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 56388425 56388425 G C SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known silent c.3231 p.A1077 1.000 superfamily_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 36 0 0.00 52 19 26.76 BZRAP1 0 genome.wustl.edu 37 17 56388426 56388426 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 56388426 56388426 G C SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.3230 p.A1077G 1.000 superfamily_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 37 0 0.00 53 19 26.39 C10orf68 0 genome.wustl.edu 37 10 33123743 33123743 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 10 33123743 33123743 A C SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1190 p.E397A 0.043 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 88 0 0.00 103 29 21.97 C16orf96 0 genome.wustl.edu 37 16 4624733 4624733 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4624733 4624733 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.549 p.I183M 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 43 0 0.00 84 12 12.50 C16orf96 0 genome.wustl.edu 37 16 4624733 4624733 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4624733 4624733 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.549 p.I183M 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 56 0 0.00 84 12 12.50 C16orf96 0 genome.wustl.edu 37 16 4624981 4624981 + Silent SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4624981 4624981 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known silent c.615 p.L205 0.932 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 35 0 0.00 64 7 9.86 C16orf96 0 genome.wustl.edu 37 16 4624981 4624981 + Silent SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4624981 4624981 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known silent c.615 p.L205 0.932 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 51 0 0.00 64 7 9.86 C16orf96 0 genome.wustl.edu 37 16 4625294 4625294 + Silent SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4625294 4625294 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known silent c.813 p.V271 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 48 0 0.00 97 6 5.83 C16orf96 0 genome.wustl.edu 37 16 4625294 4625294 + Silent SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4625294 4625294 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known silent c.813 p.V271 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 82 0 0.00 97 6 5.83 C16orf96 0 genome.wustl.edu 37 16 4625362 4625362 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4625362 4625362 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.881 p.S294C 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 43 0 0.00 74 6 7.50 C16orf96 0 genome.wustl.edu 37 16 4625362 4625362 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4625362 4625362 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.881 p.S294C 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 66 0 0.00 74 6 7.50 C16orf96 0 genome.wustl.edu 37 16 4626538 4626538 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4626538 4626538 C A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.2057 p.S686Y 0.994 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 38 0 0.00 65 6 8.45 C16orf96 0 genome.wustl.edu 37 16 4626538 4626538 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4626538 4626538 C A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.2057 p.S686Y 0.994 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 41 0 0.00 65 6 8.45 C16orf96 0 genome.wustl.edu 37 16 4626566 4626566 + Silent SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4626566 4626566 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known silent c.2085 p.V695 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 39 0 0.00 64 5 7.14 C16orf96 0 genome.wustl.edu 37 16 4626566 4626566 + Silent SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4626566 4626566 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known silent c.2085 p.V695 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 51 0 0.00 64 5 7.14 C16orf96 0 genome.wustl.edu 37 16 4626579 4626579 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4626579 4626579 C A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.2098 p.L700M 0.253 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 40 0 0.00 62 6 8.82 C16orf96 0 genome.wustl.edu 37 16 4626579 4626579 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4626579 4626579 C A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.2098 p.L700M 0.253 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 49 0 0.00 62 6 8.82 C16orf96 0 genome.wustl.edu 37 16 4626438 4626438 + Missense_Mutation SNP T T A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4626438 4626438 T A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.1957 p.S653T 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 49 0 0.00 78 10 11.36 C16orf96 0 genome.wustl.edu 37 16 4626439 4626439 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 4626439 4626439 C G SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.1958 p.S653C 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 49 0 0.00 76 10 11.63 C1orf94 0 genome.wustl.edu 37 1 34663156 34663156 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 34663156 34663156 G A SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known silent c.651 p.K217 0.773 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 34 0 0.00 13 4 23.53 C3P1 0 genome.wustl.edu 37 19 10181677 10181677 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 10181677 10181677 C T SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.570 - - - no_errors C3P1 HGNC ENSG00000167798 tier1 - - 34 0 0.00 49 4 7.41 C3P1 0 genome.wustl.edu 37 19 10181677 10181677 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 10181677 10181677 C T SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.570 - - - no_errors C3P1 HGNC ENSG00000167798 tier1 - - 36 0 0.00 49 4 7.41 CCDC160 0 genome.wustl.edu 37 X 133379047 133379047 + Missense_Mutation SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 X 133379047 133379047 A G SNP CCDC160 ENST00000370809 human ensembl 74_37 +1 known missense c.217 p.I73V 0.006 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 tier1 - - 47 0 0.00 46 32 41.03 CCT6P3 0 genome.wustl.edu 37 7 64530103 64530103 + RNA SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 64530103 64530103 G A SNP CCT6P3 ENST00000426828 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC ENSG00000234585 74 0 0.00 53 4 7.02 CDH12 0 genome.wustl.edu 37 5 21802328 21802328 + Missense_Mutation SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 21802328 21802328 T C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1204 p.I402V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 44 0 0.00 52 16 23.53 CDH12 0 genome.wustl.edu 37 5 21802328 21802328 + Missense_Mutation SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 21802328 21802328 T C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1204 p.I402V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 67 0 0.00 52 16 23.53 CDH23 0 genome.wustl.edu 37 10 73447449 73447449 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 10 73447449 73447449 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.2047 p.V683I 0.999 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 39 0 0.00 16 14 46.67 CDH8 0 genome.wustl.edu 37 16 61851478 61851478 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 61851478 61851478 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.1182 p.P394 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 66 0 0.00 57 4 6.56 CDK5RAP3 0 genome.wustl.edu 37 17 46053334 46053334 + Silent SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 46053334 46053334 A G SNP CDK5RAP3 ENST00000338399 human ensembl 74_37 +1 known silent c.753 p.E251 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 tier1 rs202125432 - 58 0 0.00 35 4 10.26 CDKL2 0 genome.wustl.edu 37 4 76522369 76522369 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 4 76522369 76522369 C A SNP CDKL2 ENST00000429927 human ensembl 74_37 -1 known missense c.1072 p.G358C 0.036 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL2 HGNC ENSG00000138769 37 0 0.00 23 2 8.00 CHAT 0 genome.wustl.edu 37 10 50872851 50872851 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 10 50872851 50872851 G T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.2006 p.C669F 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 - - 46 0 0.00 15 24 61.54 CHRNA6 0 genome.wustl.edu 37 8 42611499 42611499 + Silent SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 42611499 42611499 A G SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known silent c.843 p.S281 0.990 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 tier1 - - 52 0 0.00 27 17 38.64 CILP 0 genome.wustl.edu 37 15 65489146 65489146 + Silent SNP T T G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 15 65489146 65489146 T G SNP CILP ENST00000261883 human ensembl 74_37 -1 known silent c.3478 p.R1160 0.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 tier1 - - 14 0 0.00 9 20 68.97 CLSTN2 0 genome.wustl.edu 37 3 140277669 140277669 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 140277669 140277669 A C SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2011 p.T671P 0.033 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 31 0 0.00 67 17 20.24 CLSTN2 0 genome.wustl.edu 37 3 140277669 140277669 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 140277669 140277669 A C SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2011 p.T671P 0.033 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 59 0 0.00 67 17 20.24 CLSTN2 0 genome.wustl.edu 37 3 140282913 140282913 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 140282913 140282913 G A SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2593 p.E865K 0.994 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 51 0 0.00 34 8 19.05 CNTN1 0 genome.wustl.edu 37 12 41463781 41463781 + Missense_Mutation SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 41463781 41463781 A G SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.3001 p.S1001G 0.003 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 37 0 0.00 29 7 19.44 CNTNAP2 0 genome.wustl.edu 37 7 148080841 148080841 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 148080841 148080841 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.3576 p.A1192 0.010 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 80 0 0.00 42 36 46.15 COBL 0 genome.wustl.edu 37 7 51258724 51258724 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 51258724 51258724 G A SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.508 p.R170C 1.000 pfam_Cordon-bleu_ubiquitin_domain pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 22 0 0.00 26 2 7.14 COL11A2 0 genome.wustl.edu 37 6 33141697 33141697 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 33141697 33141697 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.2536 p.R846W 0.917 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 rs149071920 - 25 0 0.00 34 9 20.93 COL2A1 0 genome.wustl.edu 37 12 48378877 48378877 + Splice_Site SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 48378877 48378877 C A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known splice_site c.1735-1 e27-1 1.000 - - - no_errors COL2A1 HGNC ENSG00000139219 tier1 - - 44 0 0.00 65 4 5.80 COL2A1 0 genome.wustl.edu 37 12 48378877 48378877 + Splice_Site SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 48378877 48378877 C A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known splice_site c.1735-1 e27-1 1.000 - - - no_errors COL2A1 HGNC ENSG00000139219 tier1 - - 59 0 0.00 65 4 5.80 COL6A6 0 genome.wustl.edu 37 3 130282231 130282231 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 130282231 130282231 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.384 p.K128N 0.603 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 47 0 0.00 54 20 27.03 CSNK1D 0 genome.wustl.edu 37 17 80213421 80213421 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 80213421 80213421 C T SNP CSNK1D ENST00000314028 human ensembl 74_37 -1 known missense c.220 p.E74K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1D HGNC ENSG00000141551 tier1 - - 59 0 0.00 32 14 30.43 CUL3 0 genome.wustl.edu 37 2 225371635 225371635 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 225371635 225371635 C T SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known silent c.969 p.E323 0.998 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 tier1 - - 43 0 0.00 44 4 8.33 CUL3 0 genome.wustl.edu 37 2 225371635 225371635 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 225371635 225371635 C T SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known silent c.969 p.E323 0.998 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 tier1 - - 58 0 0.00 44 4 8.33 CYP4F11 0 genome.wustl.edu 37 19 16045083 16045083 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 16045083 16045083 G A SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.136 p.R46C 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 tier1 - - 150 0 0.00 163 22 11.83 CYP4F11 0 genome.wustl.edu 37 19 16045083 16045083 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 16045083 16045083 G A SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.136 p.R46C 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 tier1 - - 175 0 0.00 163 22 11.83 DDX3Y 0 genome.wustl.edu 37 Y 15026659 15026659 + RNA DEL T T - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 Y 15026659 15026659 T - DEL DDX3Y ENST00000472510 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors DDX3Y HGNC ENSG00000067048 tier1 13 0 0.00 11 4 26.67 DEFB118 0 genome.wustl.edu 37 20 29960672 29960672 + Frame_Shift_Del DEL A A - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 20 29960672 29960672 A - DEL DEFB118 ENST00000253381 human ensembl 74_37 +1 known frame_shift_del c.71 p.K26fs 0.000 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 tier1 62 0 0.00 59 15 20.27 DENND1B 0 genome.wustl.edu 37 1 197522116 197522116 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 197522116 197522116 G T SNP DENND1B ENST00000367396 human ensembl 74_37 -1 known missense c.1276 p.Q426K 0.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 22 0 0.00 36 3 7.69 DHX9 0 genome.wustl.edu 37 1 182856565 182856565 + Missense_Mutation SNP A A T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 182856565 182856565 A T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.3809 p.Y1270F 0.993 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 24 0 0.00 19 27 58.70 DIAPH3 0 genome.wustl.edu 37 13 60384942 60384942 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 13 60384942 60384942 C G SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.3143 p.R1048P 0.981 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 tier1 - - 28 0 0.00 21 10 32.26 DIS3L 0 genome.wustl.edu 37 15 66613011 66613011 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 15 66613011 66613011 G A SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known missense c.1267 p.E423K 1.000 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 tier1 - - 54 0 0.00 48 27 36.00 DNAH17 0 genome.wustl.edu 37 17 76464751 76464751 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 76464751 76464751 G T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.8684 p.T2895N 0.998 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 34 0 0.00 43 4 8.51 DNAH17 0 genome.wustl.edu 37 17 76464751 76464751 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 76464751 76464751 G T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.8684 p.T2895N 0.998 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 38 0 0.00 43 4 8.51 DNAJA1 0 genome.wustl.edu 37 9 33030447 33030447 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 9 33030447 33030447 G A SNP DNAJA1 ENST00000330899 human ensembl 74_37 +1 known missense c.425 p.G142D 1.000 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 tier1 - - 24 0 0.00 4 10 71.43 DOPEY2 0 genome.wustl.edu 37 21 37617444 37617444 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 21 37617444 37617444 C T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.3166 p.L1056 0.284 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 35 0 0.00 36 13 26.53 DOPEY2 0 genome.wustl.edu 37 21 37617444 37617444 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 21 37617444 37617444 C T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.3166 p.L1056 0.284 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 46 0 0.00 36 13 26.53 DYRK1B 0 genome.wustl.edu 37 19 40320627 40320627 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 40320627 40320627 G A SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known missense c.413 p.A138V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1B HGNC ENSG00000105204 tier1 - - 28 0 0.00 43 4 8.51 EBF1 0 genome.wustl.edu 37 5 158141168 158141168 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 158141168 158141168 G A SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1148 p.A383V 1.000 superfamily_bHLH_dom pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 - - 38 0 0.00 48 4 7.69 EBF1 0 genome.wustl.edu 37 5 158141168 158141168 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 158141168 158141168 G A SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1148 p.A383V 1.000 superfamily_bHLH_dom pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 - - 61 0 0.00 48 4 7.69 EEA1 0 genome.wustl.edu 37 12 93171841 93171841 + Missense_Mutation SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 93171841 93171841 A G SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.3769 p.W1257R 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 tier1 - - 77 0 0.00 31 35 53.03 EIF1 0 genome.wustl.edu 37 17 39845272 39845272 + RNA SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 39845272 39845272 G C SNP EIF1 ENST00000310837 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF1 HGNC ENSG00000173812 tier1 - - 94 0 0.00 163 318 66.11 EIF1 0 genome.wustl.edu 37 17 39845305 39845305 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 39845305 39845305 G C SNP EIF1 ENST00000469257 human ensembl 74_37 +1 known missense c.15 p.Q5H 1.000 superfamily_TIF_SUI1,pirsf_SUI1_euk,tigrfam_SUI1_euk pfam_TIF_SUI1,superfamily_TIF_SUI1,pirsf_SUI1_euk,pfscan_TIF_SUI1,tigrfam_SUI1_euk - no_errors EIF1 HGNC ENSG00000173812 tier1 - - 82 0 0.00 177 393 68.59 EIF1 0 genome.wustl.edu 37 17 39845392 39845392 + RNA SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 39845392 39845392 G T SNP EIF1 ENST00000469308 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EIF1 HGNC ENSG00000173812 tier1 - - 40 0 0.00 95 213 68.93 ENSG00000161103 0 genome.wustl.edu 37 22 18844491 18844491 + RNA SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 22 18844491 18844491 A G SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 8 0 0.00 4 3 42.86 ENSG00000216166 0 genome.wustl.edu 37 3 183520275 183520276 + RNA INS - - TG TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 183520275 183520276 - TG INS ENSG00000216166 ENST00000401347 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000216166 tier1 21 0 0.00 15 4 21.05 ENSG00000226849 0 genome.wustl.edu 37 1 11131924 11131926 + RNA DEL CAA CAA - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 CAA CAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 11131924 11131926 CAA - DEL ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 tier1 8 0 0.00 7 3 30.00 ENSG00000229729 0 genome.wustl.edu 37 3 88135426 88135426 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 88135426 88135426 G A SNP ENSG00000229729 ENST00000473136 human ensembl 74_37 +1 putative missense c.206 p.G69E 1.000 NULL NULL - no_errors RP11-159G9.5 Clone_based_vega_gene ENSG00000229729 tier1 - - 36 0 0.00 19 17 47.22 ENSG00000241956 0 genome.wustl.edu 37 5 164028139 164028139 + RNA SNP T T G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 164028139 164028139 T G SNP ENSG00000241956 ENST00000486913 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-340A15.2 Clone_based_vega_gene ENSG00000241956 tier1 - - 87 0 0.00 74 15 16.85 ENSG00000241956 0 genome.wustl.edu 37 5 164028139 164028139 + RNA SNP T T G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 164028139 164028139 T G SNP ENSG00000241956 ENST00000486913 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-340A15.2 Clone_based_vega_gene ENSG00000241956 tier1 - - 95 0 0.00 74 15 16.85 ENSG00000261238 0 genome.wustl.edu 37 16 51183170 51183171 + RNA INS - - T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 51183170 51183171 - T INS ENSG00000261238 ENST00000570060 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.007 - - - no_errors AC009166.5 Clone_based_vega_gene ENSG00000261238 tier1 27 0 0.00 27 4 12.90 ENSG00000261238 0 genome.wustl.edu 37 16 51183181 51183181 + RNA SNP T T A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 51183181 51183181 T A SNP ENSG00000261238 ENST00000570060 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors AC009166.5 Clone_based_vega_gene ENSG00000261238 tier1 - - 31 0 0.00 24 6 20.00 ENSG00000267865 0 genome.wustl.edu 37 19 56220430 56220431 + RNA INS - - T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 56220430 56220431 - T INS ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 tier1 29 0 0.00 14 4 22.22 ENSG00000272812 0 genome.wustl.edu 37 8 183315 183315 + RNA SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 183315 183315 T C SNP ENSG00000272812 ENST00000609090 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-855D21.3 Clone_based_vega_gene ENSG00000272812 tier1 rs73668545 - 19 0 0.00 8 6 42.86 EP400 0 genome.wustl.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 132547141 132547141 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8337 p.Q2779 0.737 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 30 0 0.00 28 5 15.15 EPB41L2 0 genome.wustl.edu 37 6 131215506 131215506 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 131215506 131215506 C T SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.1465 p.V489M 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 tier1 - - 34 0 0.00 25 8 24.24 ERCC3 0 genome.wustl.edu 37 2 128038201 128038201 + Missense_Mutation SNP A A T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 128038201 128038201 A T SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known missense c.1349 p.M450K 1.000 pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 tier1 - - 39 0 0.00 33 19 36.54 EVX1 0 genome.wustl.edu 37 7 27282878 27282878 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 27282878 27282878 G A SNP EVX1 ENST00000496902 human ensembl 74_37 +1 known missense c.229 p.A77T 0.878 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors EVX1 HGNC ENSG00000106038 tier1 - - 19 0 0.00 17 12 41.38 F2 0 genome.wustl.edu 37 11 46750222 46750222 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 46750222 46750222 G A SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.1307 p.R436Q 0.934 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 tier1 - - 54 0 0.00 27 24 47.06 F2 0 genome.wustl.edu 37 11 46750222 46750222 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 46750222 46750222 G A SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.1307 p.R436Q 0.934 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 tier1 - - 61 0 0.00 27 24 47.06 F9 0 genome.wustl.edu 37 X 138643757 138643757 + Missense_Mutation SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 X 138643757 138643757 T C SNP F9 ENST00000218099 human ensembl 74_37 +1 known missense c.913 p.Y305H 0.998 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 tier1 - - 35 0 0.00 30 18 37.50 FAM178B 0 genome.wustl.edu 37 2 97637859 97637859 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 97637859 97637859 C T SNP FAM178B ENST00000417561 human ensembl 74_37 -1 known missense c.787 p.V263M 0.007 NULL NULL - no_errors FAM178B HGNC ENSG00000168754 tier1 - - 47 0 0.00 50 6 10.71 FAM182B 0 genome.wustl.edu 37 20 25755880 25755880 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 20 25755880 25755880 C G SNP FAM182B ENST00000376404 human ensembl 74_37 -1 known missense c.67 p.G23R 0.337 NULL NULL - no_errors FAM182B HGNC ENSG00000175170 tier1 - - 64 0 0.00 68 7 9.33 FAM198A 0 genome.wustl.edu 37 3 43074077 43074077 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 43074077 43074077 C T SNP FAM198A ENST00000273146 human ensembl 74_37 +1 known missense c.322 p.P108S 0.030 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 tier1 - - 21 0 0.00 30 8 21.05 FAM230B 0 genome.wustl.edu 37 22 21538275 21538275 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 22 21538275 21538275 C T SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 81 0 0.00 53 3 5.36 FAM46A 0 genome.wustl.edu 37 6 82461728 82461742 + In_Frame_Del DEL CCGCCGAAGTCGCCG CCGCCGAAGTCGCCG - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 CCGCCGAAGTCGCCG CCGCCGAAGTCGCCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 82461728 82461742 CCGCCGAAGTCGCCG 0 DEL FAM46A ENST00000369754 human ensembl 74_37 -1 known in_frame_del c.188_174 p.DFGGG60in_frame_del 0.610:0.584:0.613:0.651:0.551:0.194:0.094:0.019:0.005:0.001:0.002:0.002:0.002:0.002:0.008 NULL pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 8 0 0.00 6 2 25.00 FANCM 0 genome.wustl.edu 37 14 45656996 45656996 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 14 45656996 45656996 G T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.4685 p.R1562I 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 41 0 0.00 69 4 5.48 FANCM 0 genome.wustl.edu 37 14 45656996 45656996 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 14 45656996 45656996 G T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.4685 p.R1562I 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 54 0 0.00 69 4 5.48 FAT3 0 genome.wustl.edu 37 11 92569825 92569825 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 92569825 92569825 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10180 p.V3394F 0.862 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 68 0 0.00 42 18 30.00 FAT3 0 genome.wustl.edu 37 11 92569825 92569825 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 92569825 92569825 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10180 p.V3394F 0.862 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 85 0 0.00 42 18 30.00 FBXL3 0 genome.wustl.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 13 77581683 77581683 A - DEL FBXL3 ENST00000355619 human ensembl 74_37 -1 known frame_shift_del c.884 p.L295fs 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 tier1 42 0 0.00 33 4 10.81 FBXL3 0 genome.wustl.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 13 77581683 77581683 A - DEL FBXL3 ENST00000355619 human ensembl 74_37 -1 known frame_shift_del c.884 p.L295fs 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 tier1 50 0 0.00 33 4 10.81 FKBP10 0 genome.wustl.edu 37 17 39969528 39969528 + Nonsense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 39969528 39969528 C A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known nonsense c.242 p.S81* 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 tier1 - - 37 0 0.00 435 95 17.92 FKBP10 0 genome.wustl.edu 37 17 39975621 39975621 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 39975621 39975621 C A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.887 p.S296Y 0.995 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 tier1 - - 35 0 0.00 456 88 16.15 FKBP10 0 genome.wustl.edu 37 17 39976532 39976532 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 39976532 39976532 C T SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.1075 p.P359S 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 tier1 - - 18 0 0.00 264 63 19.27 FKBP10 0 genome.wustl.edu 37 17 39976533 39976533 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 39976533 39976533 C A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.1076 p.P359H 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 tier1 - - 19 0 0.00 263 62 19.08 FLG 0 genome.wustl.edu 37 1 152282266 152282266 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 152282266 152282266 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5096 p.R1699H 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 102 0 0.00 102 17 14.29 FLG 0 genome.wustl.edu 37 1 152282266 152282266 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 152282266 152282266 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5096 p.R1699H 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 148 0 0.00 102 17 14.29 FLJ12825 0 genome.wustl.edu 37 12 54515525 54515525 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 54515525 54515525 C T SNP FLJ12825 ENST00000515617 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-834C11.3 Clone_based_vega_gene ENSG00000248265 54 0 0.00 37 5 11.90 FLT4 0 genome.wustl.edu 37 5 180043381 180043381 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 180043381 180043381 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.3205 p.V1069I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 - - 36 0 0.00 38 19 33.33 FLVCR1 0 genome.wustl.edu 37 1 213032241 213032241 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 213032241 213032241 G A SNP FLVCR1 ENST00000366971 human ensembl 74_37 +1 known silent c.447 p.L149 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors FLVCR1 HGNC ENSG00000162769 tier1 - - 14 0 0.00 17 8 32.00 FLVCR1 0 genome.wustl.edu 37 1 213032241 213032241 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 213032241 213032241 G A SNP FLVCR1 ENST00000366971 human ensembl 74_37 +1 known silent c.447 p.L149 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors FLVCR1 HGNC ENSG00000162769 tier1 - - 19 0 0.00 17 8 32.00 FNDC7 0 genome.wustl.edu 37 1 109264971 109264971 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 109264971 109264971 G A SNP FNDC7 ENST00000271311 human ensembl 74_37 +1 known missense c.616 p.A206T 0.058 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 tier1 - - 104 0 0.00 76 4 5.00 FNDC7 0 genome.wustl.edu 37 1 109264971 109264971 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 109264971 109264971 G A SNP FNDC7 ENST00000271311 human ensembl 74_37 +1 known missense c.616 p.A206T 0.058 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 tier1 - - 63 0 0.00 76 4 5.00 FOXN1 0 genome.wustl.edu 37 17 26851109 26851109 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 26851109 26851109 G A SNP FOXN1 ENST00000226247 human ensembl 74_37 +1 known missense c.122 p.S41N 0.974 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 tier1 - - 94 0 0.00 87 537 86.06 GALNT13 0 genome.wustl.edu 37 2 155099226 155099226 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 155099226 155099226 C T SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.494 p.T165I 1.000 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 GALNT13 HGNC ENSG00000144278 tier1 - - 92 0 0.00 95 14 12.84 GBX2 0 genome.wustl.edu 37 2 237076427 237076429 + In_Frame_Del DEL GGC GGC - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 237076427 237076429 GGC - DEL GBX2 ENST00000306318 human ensembl 74_37 -1 known in_frame_del c.188_186 p.P63in_frame_del 1.000:1.000:0.973 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 tier1 12 0 0.00 5 3 37.50 GFPT2 0 genome.wustl.edu 37 5 179745892 179745892 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 179745892 179745892 C G SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known missense c.859 p.D287H 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 tier1 - - 30 0 0.00 41 5 10.87 GFPT2 0 genome.wustl.edu 37 5 179745892 179745892 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 179745892 179745892 C G SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known missense c.859 p.D287H 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 tier1 - - 38 0 0.00 41 5 10.87 GOLGA6L2 0 genome.wustl.edu 37 15 23686304 23686304 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 15 23686304 23686304 G A SNP GOLGA6L2 ENST00000312015 human ensembl 74_37 -1 known missense c.1318 p.R440W 0.001 NULL prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 rs76463121 - 66 0 0.00 36 33 47.14 GOLGA6L3 0 genome.wustl.edu 37 15 83013939 83013939 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 15 83013939 83013939 A C SNP GOLGA6L3 ENST00000557886 human ensembl 74_37 -1 putative missense c.644 p.L215R 0.020 NULL NULL - no_errors RP13-996F3.4 Clone_based_vega_gene ENSG00000259243 tier1 - - 15 0 0.00 2 4 66.67 GPR125 0 genome.wustl.edu 37 4 22517302 22517304 + In_Frame_Del DEL CGC CGC - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 CGC CGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 4 22517302 22517304 CGC - DEL GPR125 ENST00000334304 human ensembl 74_37 -1 known in_frame_del c.106_104 p.G35in_frame_del 0.040:0.037:0.033 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 38 0 0.00 29 3 9.38 GPR126 0 genome.wustl.edu 37 6 142715055 142715055 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 142715055 142715055 G T SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.1384 p.D462Y 1.000 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 tier1 - - 45 0 0.00 46 5 9.80 GPR126 0 genome.wustl.edu 37 6 142715055 142715055 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 142715055 142715055 G T SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.1384 p.D462Y 1.000 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 tier1 - - 68 0 0.00 46 5 9.80 GPRC5C 0 genome.wustl.edu 37 17 72436045 72436045 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 72436045 72436045 G A SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.265 p.D89N 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 tier1 - - 17 0 0.00 280 59 17.40 GPRC5C 0 genome.wustl.edu 37 17 72436912 72436913 + Frame_Shift_Ins INS - - A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 72436912 72436913 0 A INS GPRC5C ENST00000392627 human ensembl 74_37 +1 known frame_shift_ins c.1132_1133 p.G378fs 0.998:0.997 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 13 0 0.00 285 22 7.17 GRIA3 0 genome.wustl.edu 37 X 122616852 122616852 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 X 122616852 122616852 G A SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.2642 p.R881K 1.000 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 tier1 - - 42 0 0.00 12 44 78.57 GSK3B 0 genome.wustl.edu 37 3 119812226 119812226 + Missense_Mutation SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 119812226 119812226 T C SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known missense c.56 p.Q19R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3B HGNC ENSG00000082701 tier1 - - 29 0 0.00 40 11 21.57 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 13 0 0.00 10 3 23.08 HCN1 0 genome.wustl.edu 37 5 45262169 45262169 + Nonsense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 45262169 45262169 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known nonsense c.2527 p.R843* 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 53 0 0.00 60 13 17.81 HIF1A 0 genome.wustl.edu 37 14 62207581 62207581 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 14 62207581 62207581 C T SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known missense c.1840 p.P614S 1.000 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 tier1 - - 61 0 0.00 58 16 21.62 HIST1H1E 0 genome.wustl.edu 37 6 26156678 26156680 + In_Frame_Del DEL GAA GAA - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 26156678 26156680 GAA - DEL HIST1H1E ENST00000304218 human ensembl 74_37 +1 known in_frame_del c.60_62 p.K23in_frame_del 0.932:0.994:0.999 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 tier1 38 0 0.00 52 11 17.46 HIST1H3F 0 genome.wustl.edu 37 6 26250430 26250431 + Frame_Shift_Del DEL CT CT - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 26250430 26250431 CT - DEL HIST1H3F ENST00000446824 human ensembl 74_37 -1 known frame_shift_del c.404_403 p.R135fs 0.994:0.813 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC ENSG00000256316 tier1 50 0 0.00 33 21 38.89 HIST1H4K 0 genome.wustl.edu 37 6 27798995 27798995 + Nonstop_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 27798995 27798995 C G SNP HIST1H4K ENST00000357549 human ensembl 74_37 -1 known nonstop c.311 p.*104S 0.004 NULL pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC ENSG00000197914 tier1 - - 50 0 0.00 31 8 20.51 HNRNPKP3 0 genome.wustl.edu 37 11 43283411 43283412 + RNA INS - - C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 43283411 43283412 - C INS HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.923:0.935 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 tier1 19 0 0.00 9 4 30.77 HSPB9 0 genome.wustl.edu 37 17 40275105 40275105 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 40275105 40275105 G A SNP HSPB9 ENST00000355067 human ensembl 74_37 +1 known silent c.237 p.V79 1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB9 HGNC ENSG00000197723 tier1 - - 44 0 0.00 71 294 80.55 HUS1B 0 genome.wustl.edu 37 6 656675 656675 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 656675 656675 C T SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known silent c.270 p.A90 0.005 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 tier1 - - 13 0 0.00 11 4 26.67 HYDIN 0 genome.wustl.edu 37 16 71009107 71009107 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 71009107 71009107 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.4704 p.Q1568 0.139 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 23 0 0.00 13 7 35.00 HYDIN 0 genome.wustl.edu 37 16 71009107 71009107 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 71009107 71009107 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.4704 p.Q1568 0.139 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 28 0 0.00 13 7 35.00 HYOU1 0 genome.wustl.edu 37 11 118918983 118918983 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 118918983 118918983 C T SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.2353 p.E785K 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 13 0 0.00 31 3 8.82 IGSF3 0 genome.wustl.edu 37 1 117156561 117156561 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 117156561 117156561 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.658 p.R220W 0.999 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 56 0 0.00 48 15 23.81 IGSF3 0 genome.wustl.edu 37 1 117156561 117156561 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 117156561 117156561 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.658 p.R220W 0.999 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 76 0 0.00 48 15 23.81 IPO8 0 genome.wustl.edu 37 12 30805929 30805929 + Silent SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 30805929 30805929 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known silent c.2046 p.F682 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 tier1 - - 120 0 0.00 85 12 12.37 IPO8 0 genome.wustl.edu 37 12 30805929 30805929 + Silent SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 30805929 30805929 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known silent c.2046 p.F682 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 tier1 - - 89 0 0.00 85 12 12.37 IRF4 0 genome.wustl.edu 37 6 393167 393167 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 393167 393167 C T SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known silent c.15 p.G5 0.106 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 tier1 - - 15 0 0.00 13 7 35.00 IVNS1ABP 0 genome.wustl.edu 37 1 185269606 185269606 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 185269606 185269606 C T SNP IVNS1ABP ENST00000367498 human ensembl 74_37 -1 known missense c.1205 p.R402K 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 tier1 - - 64 0 0.00 67 4 5.63 IVNS1ABP 0 genome.wustl.edu 37 1 185269606 185269606 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 185269606 185269606 C T SNP IVNS1ABP ENST00000367498 human ensembl 74_37 -1 known missense c.1205 p.R402K 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 tier1 - - 68 0 0.00 67 4 5.63 KAT2A 0 genome.wustl.edu 37 17 40269136 40269136 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 40269136 40269136 C T SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known missense c.1681 p.G561S 1.000 pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 tier1 - - 45 0 0.00 44 40 47.62 KAT2A 0 genome.wustl.edu 37 17 40269136 40269136 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 40269136 40269136 C T SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known missense c.1681 p.G561S 1.000 pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 tier1 - - 54 0 0.00 44 40 47.62 KCNA5 0 genome.wustl.edu 37 12 5154191 5154191 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 5154191 5154191 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.878 p.A293V 0.002 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 11 0 0.00 13 6 31.58 KCNN4 0 genome.wustl.edu 37 19 44276179 44276179 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 44276179 44276179 C A SNP KCNN4 ENST00000262888 human ensembl 74_37 -1 known missense c.792 p.K264N 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 tier1 - - 37 0 0.00 51 13 20.31 KCNN4 0 genome.wustl.edu 37 19 44276179 44276179 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 44276179 44276179 C A SNP KCNN4 ENST00000262888 human ensembl 74_37 -1 known missense c.792 p.K264N 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 tier1 - - 40 0 0.00 51 13 20.31 KCNV1 0 genome.wustl.edu 37 8 110986364 110986364 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 110986364 110986364 G A SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.254 p.P85L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 60 0 0.00 84 10 10.64 KCNV1 0 genome.wustl.edu 37 8 110986364 110986364 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 110986364 110986364 G A SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.254 p.P85L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 82 0 0.00 84 10 10.64 KIAA0430 0 genome.wustl.edu 37 16 15724221 15724221 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 15724221 15724221 C T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.1492 p.D498N 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 tier1 - - 99 0 0.00 71 9 11.25 KLF6 0 genome.wustl.edu 37 10 3821248 3821249 + RNA INS - - T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 10 3821248 3821249 - T INS KLF6 ENST00000173785 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.006 - - - no_errors KLF6 HGNC ENSG00000067082 tier1 30 0 0.00 27 3 10.00 KLHL38 0 genome.wustl.edu 37 8 124664819 124664819 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 124664819 124664819 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.348 p.F116 0.992 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,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 KLHL38 HGNC ENSG00000175946 tier1 - - 27 0 0.00 21 6 22.22 KLHL38 0 genome.wustl.edu 37 8 124664819 124664819 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 124664819 124664819 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.348 p.F116 0.992 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,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 KLHL38 HGNC ENSG00000175946 tier1 - - 38 0 0.00 21 6 22.22 LINC00265 0 genome.wustl.edu 37 7 39832146 39832146 + RNA SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 39832146 39832146 G A SNP LINC00265 ENST00000340510 human ensembl 74_37 +1 known rna NULL NULL 0.385 - - - no_errors LINC00265 HGNC ENSG00000188185 33 0 0.00 42 9 17.65 LOC100130331 0 genome.wustl.edu 37 1 238090365 238090365 + RNA SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 238090365 238090365 G T SNP LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 tier1 - - 30 0 0.00 20 32 61.54 LOC100506013 0 genome.wustl.edu 37 4 165798490 165798490 + RNA SNP T T A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 4 165798490 165798490 T A SNP LOC100506013 ENST00000507152 human ensembl 74_37 +1 known rna NULL NULL 0.080 - - - no_errors RP11-366M4.3 Clone_based_vega_gene ENSG00000248329 tier1 - - 41 0 0.00 15 9 37.50 LOC100506013 0 genome.wustl.edu 37 4 165798496 165798496 + RNA SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 4 165798496 165798496 C G SNP LOC100506013 ENST00000507152 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-366M4.3 Clone_based_vega_gene ENSG00000248329 tier1 - - 41 0 0.00 17 10 37.04 LOC101929136 0 genome.wustl.edu 37 1 11159759 11159759 + RNA SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 11159759 11159759 C A SNP LOC101929136 ENST00000435388 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-635E18.6 Clone_based_vega_gene ENSG00000230337 tier1 - - 58 0 0.00 39 13 25.00 LOC101929136 0 genome.wustl.edu 37 1 11159759 11159759 + RNA SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 11159759 11159759 C A SNP LOC101929136 ENST00000435388 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-635E18.6 Clone_based_vega_gene ENSG00000230337 tier1 - - 63 0 0.00 39 13 25.00 LOC101930008 0 genome.wustl.edu 37 16 16415216 16415216 + RNA SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 16415216 16415216 C G SNP LOC101930008 ENST00000536260 human ensembl 74_37 +1 known rna NULL NULL 0.840 - - - no_errors AC138969.4 Clone_based_vega_gene ENSG00000183889 tier1 - - 111 0 0.00 102 14 12.07 LOC101930657 0 genome.wustl.edu 37 1 745347 745347 + RNA SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 745347 745347 T C SNP LOC101930657 ENST00000412115 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-206L10.9 Clone_based_vega_gene ENSG00000237491 tier1 - - 17 0 0.00 13 4 23.53 LOC400743 0 genome.wustl.edu 37 1 17521162 17521162 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 17521162 17521162 C T SNP LOC400743 ENST00000412427 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-380J14.1 Clone_based_vega_gene ENSG00000204362 tier1 - - 33 0 0.00 30 16 34.78 LRFN1 0 genome.wustl.edu 37 19 39798949 39798949 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 39798949 39798949 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.1640 p.S547L 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,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_dom - no_errors LRFN1 HGNC ENSG00000128011 tier1 - - 33 0 0.00 39 11 22.00 LRP2 0 genome.wustl.edu 37 2 170042241 170042241 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 170042241 170042241 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.9617 p.R3206H 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 rs148251117 - 21 0 0.00 35 15 30.00 LRP8 0 genome.wustl.edu 37 1 53755344 53755344 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 53755344 53755344 C G SNP LRP8 ENST00000306052 human ensembl 74_37 -1 known missense c.262 p.D88H 0.987 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 tier1 - - 27 0 0.00 12 6 33.33 LRRC38 0 genome.wustl.edu 37 1 13839807 13839807 + Silent SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 13839807 13839807 C G SNP LRRC38 ENST00000376085 human ensembl 74_37 -1 known silent c.282 p.S94 0.838 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC38 HGNC ENSG00000162494 tier1 - - 54 0 0.00 31 20 39.22 M1AP 0 genome.wustl.edu 37 2 74789417 74789417 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 74789417 74789417 C T SNP M1AP ENST00000290536 human ensembl 74_37 -1 known missense c.1208 p.R403Q 0.966 NULL NULL - no_errors M1AP HGNC ENSG00000159374 tier1 - - 21 0 0.00 32 9 21.95 M1AP 0 genome.wustl.edu 37 2 74789417 74789417 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 74789417 74789417 C T SNP M1AP ENST00000290536 human ensembl 74_37 -1 known missense c.1208 p.R403Q 0.966 NULL NULL - no_errors M1AP HGNC ENSG00000159374 tier1 - - 29 0 0.00 32 9 21.95 MALAT1 0 genome.wustl.edu 37 11 65270090 65270091 + RNA INS - - T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 65270090 65270091 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.929:0.911 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 36 0 0.00 42 7 14.29 MAP1B 0 genome.wustl.edu 37 5 71494043 71494043 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 71494043 71494043 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4861 p.P1621S 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 44 0 0.00 41 7 14.58 MAP1B 0 genome.wustl.edu 37 5 71494043 71494043 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 71494043 71494043 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4861 p.P1621S 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 57 0 0.00 41 7 14.58 MBLAC2 0 genome.wustl.edu 37 5 89756984 89756984 + Nonstop_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 89756984 89756984 C A SNP MBLAC2 ENST00000316610 human ensembl 74_37 -1 known nonstop c.840 p.*280Y 0.450 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC2 HGNC ENSG00000176055 tier1 - - 41 0 0.00 36 7 16.28 MBLAC2 0 genome.wustl.edu 37 5 89756984 89756984 + Nonstop_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 89756984 89756984 C A SNP MBLAC2 ENST00000316610 human ensembl 74_37 -1 known nonstop c.840 p.*280Y 0.450 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC2 HGNC ENSG00000176055 tier1 - - 65 0 0.00 36 7 16.28 MCMDC2 0 genome.wustl.edu 37 8 67803132 67803132 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 67803132 67803132 G A SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.1106 p.R369H 1.000 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 tier1 - - 55 0 0.00 31 47 60.26 MGAM 0 genome.wustl.edu 37 7 141739972 141739972 + Splice_Site SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 141739972 141739972 G T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known splice_site c.2373+1 e19+1 1.000 - - - no_errors MGAM HGNC ENSG00000257335 31 0 0.00 50 4 7.41 MIEF2 0 genome.wustl.edu 37 17 18167166 18167166 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 18167166 18167166 G C SNP MIEF2 ENST00000323019 human ensembl 74_37 +1 known missense c.453 p.Q151H 1.000 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 tier1 - - 26 0 0.00 11 4 26.67 MKRN1 0 genome.wustl.edu 37 7 140158882 140158882 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 140158882 140158882 G A SNP MKRN1 ENST00000255977 human ensembl 74_37 -1 known silent c.696 p.H232 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN1 HGNC ENSG00000133606 tier1 - - 18 0 0.00 11 8 42.11 MKRN1 0 genome.wustl.edu 37 7 140158882 140158882 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 140158882 140158882 G A SNP MKRN1 ENST00000255977 human ensembl 74_37 -1 known silent c.696 p.H232 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN1 HGNC ENSG00000133606 tier1 - - 19 0 0.00 11 8 42.11 MME 0 genome.wustl.edu 37 3 154859844 154859844 + Missense_Mutation SNP A A T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 154859844 154859844 A T SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.1022 p.E341V 0.982 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 tier1 - - 67 0 0.00 67 24 26.37 MMP19 0 genome.wustl.edu 37 12 56233466 56233466 + Nonsense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 56233466 56233466 C A SNP MMP19 ENST00000322569 human ensembl 74_37 -1 known nonsense c.580 p.E194* 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP19 HGNC ENSG00000123342 33 0 0.00 35 2 5.41 MSR1 0 genome.wustl.edu 37 8 16012634 16012634 + Silent SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 16012634 16012634 A G SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known silent c.837 p.G279 0.996 pfam_Collagen pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 tier1 - - 53 0 0.00 20 10 33.33 MT-CO1 0 genome.wustl.edu 37 MT 5999 5999 + Silent SNP T T G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 MT 5999 5999 T G SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known silent c.96 p.A32 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 170 0 0.00 48 6 11.11 MTUS1 0 genome.wustl.edu 37 8 17507462 17507462 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 17507462 17507462 G T SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.3394 p.Q1132K 1.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 49 0 0.00 35 2 5.26 MUC16 0 genome.wustl.edu 37 19 9085345 9085345 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 9085345 9085345 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.6470 p.S2157Y 0.018 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 46 0 0.00 42 15 26.32 MYBPC3 0 genome.wustl.edu 37 11 47372077 47372077 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 47372077 47372077 C T SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.382 p.G128R 0.147 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_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 155 0 0.00 37 105 73.94 MYCL 0 genome.wustl.edu 37 1 40363557 40363557 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 40363557 40363557 G A SNP MYCL ENST00000372816 human ensembl 74_37 -1 known silent c.582 p.D194 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 tier1 - - 47 0 0.00 39 14 26.42 MYO7A 0 genome.wustl.edu 37 11 76900423 76900423 + Missense_Mutation SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 76900423 76900423 A G SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.3538 p.T1180A 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 tier1 - - 34 0 0.00 40 8 16.67 NAALADL2 0 genome.wustl.edu 37 3 175293960 175293960 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 175293960 175293960 C T SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known silent c.1785 p.D595 0.998 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 tier1 - - 40 0 0.00 39 11 22.00 NBEA 0 genome.wustl.edu 37 13 35731369 35731369 + Missense_Mutation SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 13 35731369 35731369 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.2806 p.R936G 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 36 0 0.00 18 10 35.71 NEB 0 genome.wustl.edu 37 2 152531850 152531850 + Missense_Mutation SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 152531850 152531850 T C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.3830 p.D1277G 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,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 38 0 0.00 62 4 6.06 NEB 0 genome.wustl.edu 37 2 152531850 152531850 + Missense_Mutation SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 152531850 152531850 T C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.3830 p.D1277G 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,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 82 0 0.00 62 4 6.06 NID1 0 genome.wustl.edu 37 1 236175225 236175225 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 236175225 236175225 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known silent c.2523 p.P841 0.997 superfamily_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 38 0 0.00 52 3 5.45 NKX2-2-AS1 0 genome.wustl.edu 37 20 21492202 21492202 + RNA SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 20 21492202 21492202 G T SNP NKX2-2-AS1 ENST00000549659 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors NKX2-2-AS1 HGNC ENSG00000258197 tier1 - - 55 0 0.00 41 4 8.89 NKX2-2-AS1 0 genome.wustl.edu 37 20 21492202 21492202 + RNA SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 20 21492202 21492202 G T SNP NKX2-2-AS1 ENST00000549659 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors NKX2-2-AS1 HGNC ENSG00000258197 tier1 - - 65 0 0.00 41 4 8.89 NKX2-6 0 genome.wustl.edu 37 8 23560561 23560561 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 23560561 23560561 G A SNP NKX2-6 ENST00000325017 human ensembl 74_37 -1 known silent c.309 p.G103 0.004 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-6 HGNC ENSG00000180053 tier1 - - 13 0 0.00 11 16 59.26 NOB1 0 genome.wustl.edu 37 16 69778842 69778842 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 69778842 69778842 G A SNP NOB1 ENST00000268802 human ensembl 74_37 -1 known silent c.903 p.S301 0.144 pfam_NOB1_Zn-bd,pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC ENSG00000141101 tier1 rs147206895 - 44 0 0.00 33 4 10.81 NOS1 0 genome.wustl.edu 37 12 117724013 117724013 + Missense_Mutation SNP T T A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 117724013 117724013 T A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1186 p.T396S 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 29 0 0.00 28 5 15.15 NOS1 0 genome.wustl.edu 37 12 117724013 117724013 + Missense_Mutation SNP T T A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 117724013 117724013 T A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1186 p.T396S 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 59 0 0.00 28 5 15.15 NT5C3B 0 genome.wustl.edu 37 17 39987091 39987091 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 39987091 39987091 C G SNP NT5C3B ENST00000269534 human ensembl 74_37 -1 known missense c.342 p.Q114H 0.471 pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3B HGNC ENSG00000141698 tier1 - - 55 0 0.00 697 117 14.37 NYAP1 0 genome.wustl.edu 37 7 100084483 100084483 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 100084483 100084483 C T SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known silent c.108 p.P36 0.984 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 tier1 - - 24 0 0.00 23 28 54.90 OR10J5 0 genome.wustl.edu 37 1 159505593 159505593 + Missense_Mutation SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 159505593 159505593 A G SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known missense c.205 p.S69P 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 tier1 - - 48 0 0.00 24 30 55.56 OR11H4 0 genome.wustl.edu 37 14 20711241 20711241 + Silent SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 14 20711241 20711241 C G SNP OR11H4 ENST00000315409 human ensembl 74_37 +1 known silent c.291 p.S97 0.066 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H4 HGNC ENSG00000176198 tier1 - - 58 0 0.00 80 6 6.98 OR11H4 0 genome.wustl.edu 37 14 20711241 20711241 + Silent SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 14 20711241 20711241 C G SNP OR11H4 ENST00000315409 human ensembl 74_37 +1 known silent c.291 p.S97 0.066 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H4 HGNC ENSG00000176198 tier1 - - 67 0 0.00 80 6 6.98 OR2T7 0 genome.wustl.edu 37 1 248605049 248605049 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 248605049 248605049 C A SNP OR2T7 ENST00000460972 human ensembl 74_37 +1 known missense c.542 p.T181K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T7 HGNC ENSG00000227152 tier1 - - 74 0 0.00 101 12 10.62 OR51B4 0 genome.wustl.edu 37 11 5322505 5322505 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 5322505 5322505 G A SNP OR51B4 ENST00000380224 human ensembl 74_37 -1 known silent c.672 p.G224 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B4 HGNC ENSG00000183251 tier1 - - 53 0 0.00 23 48 67.61 OR56A1 0 genome.wustl.edu 37 11 6048776 6048776 + Silent SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 6048776 6048776 C A SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known silent c.159 p.L53 0.277 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 tier1 - - 47 0 0.00 24 8 25.00 OR5D18 0 genome.wustl.edu 37 11 55587113 55587113 + Missense_Mutation SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 55587113 55587113 T C SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.8 p.L3P 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 18 0 0.00 25 3 10.71 OR8B4 0 genome.wustl.edu 37 11 124294641 124294641 + Silent SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 124294641 124294641 A G SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known silent c.127 p.L43 0.039 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 19 0 0.00 33 4 10.81 OTUD4 0 genome.wustl.edu 37 4 146085307 146085307 + Frame_Shift_Del DEL T T - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 4 146085307 146085307 T - DEL OTUD4 ENST00000447906 human ensembl 74_37 -1 known frame_shift_del c.413 p.K138fs 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 tier1 113 0 0.00 66 32 32.65 PAK2 0 genome.wustl.edu 37 3 196529902 196529902 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 196529902 196529902 G C SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known missense c.303 p.Q101H 1.000 pfam_CRIB_dom,superfamily_WASP_C,smart_CRIB_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK2 HGNC ENSG00000180370 tier1 rs201465227 - 47 0 0.00 72 4 5.26 PCDH10 0 genome.wustl.edu 37 4 134071353 134071353 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 4 134071353 134071353 C A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.58 p.L20I 1.000 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 48 0 0.00 61 12 16.44 PCDH12 0 genome.wustl.edu 37 5 141324976 141324976 + Missense_Mutation SNP T T G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 141324976 141324976 T G SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.3525 p.R1175S 0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 tier1 rs13188049 - 24 0 0.00 32 8 20.00 PCDH17 0 genome.wustl.edu 37 13 58298998 58298998 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 13 58298998 58298998 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.3050 p.P1017L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 29 0 0.00 34 6 15.00 PCDHB7 0 genome.wustl.edu 37 5 140552744 140552744 + Silent SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 140552744 140552744 T C SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.328 p.L110 0.125 pfam_Cadherin_N pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 53 0 0.00 59 25 29.76 PCDHB7 0 genome.wustl.edu 37 5 140552744 140552744 + Silent SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 140552744 140552744 T C SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.328 p.L110 0.125 pfam_Cadherin_N pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 68 0 0.00 59 25 29.76 PCSK6 0 genome.wustl.edu 37 15 101906495 101906495 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 15 101906495 101906495 G A SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known silent c.1761 p.F587 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 44 0 0.00 36 3 7.69 PDZD2 0 genome.wustl.edu 37 5 31799459 31799459 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 31799459 31799459 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.104 p.C35Y 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 36 0 0.00 39 13 25.00 PDZD2 0 genome.wustl.edu 37 5 31799459 31799459 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 31799459 31799459 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.104 p.C35Y 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 41 0 0.00 39 13 25.00 PHLPP1 0 genome.wustl.edu 37 18 60639886 60639887 + Frame_Shift_Ins INS - - A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 18 60639886 60639887 - A INS PHLPP1 ENST00000262719 human ensembl 74_37 +1 known frame_shift_ins c.3700_3701 p.T1236fs 1.000:1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 tier1 57 0 0.00 14 10 41.67 PHLPP1 0 genome.wustl.edu 37 18 60639893 60639893 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 18 60639893 60639893 C A SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.3707 p.T1236K 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 58 0 0.00 20 4 16.67 PHLPP1 0 genome.wustl.edu 37 18 60639894 60639894 + Silent SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 18 60639894 60639894 A C SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known silent c.3708 p.T1236 0.974 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 57 0 0.00 20 4 16.67 PI4KA 0 genome.wustl.edu 37 22 21088410 21088410 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 22 21088410 21088410 G T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.3973 p.Q1325K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 55 0 0.00 52 4 7.14 PI4KA 0 genome.wustl.edu 37 22 21088410 21088410 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 22 21088410 21088410 G T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.3973 p.Q1325K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 62 0 0.00 52 4 7.14 PID1 0 genome.wustl.edu 37 2 229890416 229890416 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 229890416 229890416 C A SNP PID1 ENST00000354069 human ensembl 74_37 -1 known missense c.685 p.D229Y 1.000 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 tier1 - - 23 0 0.00 21 12 36.36 PIWIL1 0 genome.wustl.edu 37 12 130845767 130845767 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 130845767 130845767 G A SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known missense c.1708 p.A570T 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 tier1 - - 54 0 0.00 41 17 29.31 PLOD3 0 genome.wustl.edu 37 7 100855170 100855170 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 100855170 100855170 G T SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.1189 p.L397I 0.808 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 59 0 0.00 59 4 6.35 PREX2 0 genome.wustl.edu 37 8 69046447 69046447 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 69046447 69046447 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3920 p.W1307L 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 31 0 0.00 17 17 50.00 PRKD2 0 genome.wustl.edu 37 19 47197354 47197354 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 47197354 47197354 C T SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.1354 p.A452T 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 38 0 0.00 50 3 5.66 PROCA1 0 genome.wustl.edu 37 17 27030613 27030613 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27030613 27030613 C T SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.980 p.R327K 1.000 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 36 0 0.00 345 265 43.44 PROCA1 0 genome.wustl.edu 37 17 27030654 27030654 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27030654 27030654 C G SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.939 p.K313N 0.094 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 33 0 0.00 373 261 40.85 PROCA1 0 genome.wustl.edu 37 17 27030761 27030761 + Nonsense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27030761 27030761 C A SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known nonsense c.832 p.E278* 0.994 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 24 0 0.00 241 199 45.23 PROCA1 0 genome.wustl.edu 37 17 27030779 27030779 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27030779 27030779 C T SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.814 p.E272K 0.995 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 23 0 0.00 247 174 41.23 PROCA1 0 genome.wustl.edu 37 17 27030811 27030811 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27030811 27030811 C T SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.782 p.R261K 0.892 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 21 0 0.00 239 168 41.18 PROCA1 0 genome.wustl.edu 37 17 27031622 27031622 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27031622 27031622 C T SNP PROCA1 ENST00000473751 human ensembl 74_37 -1 known silent c.324 p.V108 0.000 pfam_PLipase_A2 pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 34 0 0.00 263 150 36.32 PROCA1 0 genome.wustl.edu 37 17 27031741 27031741 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27031741 27031741 C T SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.218 p.C73Y 1.000 pfam_PLipase_A2,superfamily_PLipase_A2_dom pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 33 0 0.00 326 171 34.41 PROCA1 0 genome.wustl.edu 37 17 27031844 27031844 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27031844 27031844 C G SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.115 p.D39H 0.989 pfam_PLipase_A2,superfamily_PLipase_A2_dom pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 47 0 0.00 349 74 17.49 PROCA1 0 genome.wustl.edu 37 17 27030923 27030923 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27030923 27030923 C T SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.670 p.D224N 0.978 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 15 0 0.00 160 161 49.85 PROCA1 0 genome.wustl.edu 37 17 27030929 27030929 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 27030929 27030929 C T SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known missense c.664 p.E222K 0.938 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 14 0 0.00 161 161 50.00 PRR5L 0 genome.wustl.edu 37 11 36485195 36485195 + RNA DEL A A - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 36485195 36485195 A - DEL PRR5L ENST00000389693 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors PRR5L HGNC ENSG00000135362 tier1 31 0 0.00 21 4 16.00 PSD4 0 genome.wustl.edu 37 2 113943282 113943282 + RNA SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 113943282 113943282 G A SNP PSD4 ENST00000485525 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 35 0 0.00 40 29 42.03 PSME4 0 genome.wustl.edu 37 2 54128624 54128624 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 54128624 54128624 C T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.3148 p.V1050I 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 tier1 - - 46 0 0.00 30 12 28.57 PTPN14 0 genome.wustl.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 214557049 214557051 CCT - DEL PTPN14 ENST00000366956 human ensembl 74_37 -1 known in_frame_del c.2149_2147 p.E716in_frame_del 0.182:0.503:0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 tier1 12 0 0.00 24 5 17.24 PXDN 0 genome.wustl.edu 37 2 1683968 1683968 + Missense_Mutation SNP A A G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 1683968 1683968 A G SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.727 p.C243R 1.000 smart_Cys-rich_flank_reg_C pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 8 0 0.00 18 3 14.29 RBM5 0 genome.wustl.edu 37 3 50155888 50155889 + Frame_Shift_Del DEL GA GA - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 50155888 50155889 GA - DEL RBM5 ENST00000347869 human ensembl 74_37 +1 known frame_shift_del c.2447_2448 p.*816fs 1.000:0.999 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 tier1 40 0 0.00 38 5 11.63 RCOR3 0 genome.wustl.edu 37 1 211486260 211486260 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 211486260 211486260 C T SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.1100 p.A367V 1.000 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 tier1 - - 59 0 0.00 39 46 54.12 RECQL 0 genome.wustl.edu 37 12 21630863 21630863 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 21630863 21630863 G A SNP RECQL ENST00000421138 human ensembl 74_37 -1 known silent c.741 p.N247 0.025 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 tier1 rs148490073 - 37 0 0.00 40 24 37.50 REV3L 0 genome.wustl.edu 37 6 111694948 111694948 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 111694948 111694948 C A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4610 p.R1537I 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 56 0 0.00 58 10 14.71 REV3L 0 genome.wustl.edu 37 6 111694948 111694948 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 111694948 111694948 C A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4610 p.R1537I 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 93 0 0.00 58 10 14.71 RGPD4 0 genome.wustl.edu 37 2 108476268 108476268 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 108476268 108476268 G A SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known silent c.1725 p.L575 0.982 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 317 0 0.00 263 225 46.11 RN7SL319P 0 genome.wustl.edu 37 15 76077689 76077690 + RNA INS - - G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 15 76077689 76077690 - G INS RN7SL319P ENST00000480656 human ensembl 74_37 +1 known rna NULL NULL 0.981:0.985 - - - no_errors RN7SL319P HGNC ENSG00000241807 tier1 63 0 0.00 14 2 12.50 RP1 0 genome.wustl.edu 37 8 55534695 55534695 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 55534695 55534695 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.634 p.V212M 0.951 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 71 0 0.00 54 10 15.62 RPIA 0 genome.wustl.edu 37 2 89028849 89028849 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 89028849 89028849 C T SNP RPIA ENST00000283646 human ensembl 74_37 +1 known silent c.456 p.H152 1.000 pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA - no_errors RPIA HGNC ENSG00000153574 tier1 - - 31 0 0.00 26 9 25.71 SAAL1 0 genome.wustl.edu 37 11 18127524 18127524 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 18127524 18127524 C G SNP SAAL1 ENST00000524803 human ensembl 74_37 -1 known missense c.65 p.G22A 0.000 NULL superfamily_ARM-type_fold - no_errors SAAL1 HGNC ENSG00000166788 tier1 - - 106 0 0.00 66 29 30.53 SCARF1 0 genome.wustl.edu 37 17 1538715 1538715 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 1538715 1538715 G A SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known silent c.1830 p.S610 0.983 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 tier1 - - 49 0 0.00 65 6 8.45 SCARF1 0 genome.wustl.edu 37 17 1538715 1538715 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 1538715 1538715 G A SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known silent c.1830 p.S610 0.983 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 tier1 - - 70 0 0.00 65 6 8.45 SCEL 0 genome.wustl.edu 37 13 78171713 78171713 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 13 78171713 78171713 A C SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.786 p.K262N 1.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 tier1 - - 59 0 0.00 24 39 61.90 SCN3A 0 genome.wustl.edu 37 2 165986604 165986604 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 165986604 165986604 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.2768 p.R923Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 80 0 0.00 66 47 41.59 SCN3A 0 genome.wustl.edu 37 2 166019171 166019171 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 166019171 166019171 C G SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.862 p.E288Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 56 0 0.00 56 13 18.84 SDHAP1 0 genome.wustl.edu 37 3 195687265 195687265 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 195687265 195687265 C T SNP SDHAP1 ENST00000427149 human ensembl 74_37 -1 known rna NULL NULL 0.482 - - - no_errors SDHAP1 HGNC ENSG00000185485 tier1 rs112764107 - 8 0 0.00 3 5 62.50 SETBP1 0 genome.wustl.edu 37 18 42456670 42456671 + Frame_Shift_Del DEL CA CA - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 18 42456670 42456671 CA - DEL SETBP1 ENST00000426838 human ensembl 74_37 +1 known frame_shift_del c.681_682 p.T228fs 0.000:0.000 NULL NULL - no_errors SETBP1 HGNC ENSG00000152217 tier1 273 0 0.00 262 21 7.42 SETD5 0 genome.wustl.edu 37 3 9490247 9490247 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 9490247 9490247 C T SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.2279 p.S760L 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 tier1 - - 71 0 0.00 37 39 51.32 SFMBT2 0 genome.wustl.edu 37 10 7247841 7247841 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 10 7247841 7247841 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known silent c.1380 p.D460 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 48 0 0.00 31 12 27.91 SFMBT2 0 genome.wustl.edu 37 10 7247841 7247841 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 10 7247841 7247841 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known silent c.1380 p.D460 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 63 0 0.00 31 12 27.91 SGOL2 0 genome.wustl.edu 37 2 201437003 201437004 + Frame_Shift_Ins INS - - T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 201437003 201437004 0 T INS SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_ins c.1934_1935 p.F649fs 0.021:0.016 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 85 0 0.00 113 8 6.61 SIDT2 0 genome.wustl.edu 37 11 117061434 117061434 + Silent SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 117061434 117061434 C A SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known silent c.1776 p.P592 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 tier1 - - 35 0 0.00 42 4 8.70 SLC12A5 0 genome.wustl.edu 37 20 44676707 44676707 + Silent SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 20 44676707 44676707 A C SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.2064 p.P688 0.968 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 20 0 0.00 12 26 68.42 SLC16A1 0 genome.wustl.edu 37 1 113471764 113471764 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 113471764 113471764 C G SNP SLC16A1 ENST00000369626 human ensembl 74_37 -1 known missense c.167 p.S56T 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 tier1 - - 31 0 0.00 27 6 18.18 SLC16A1 0 genome.wustl.edu 37 1 113471764 113471764 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 113471764 113471764 C G SNP SLC16A1 ENST00000369626 human ensembl 74_37 -1 known missense c.167 p.S56T 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 tier1 - - 39 0 0.00 27 6 18.18 SLC26A5 0 genome.wustl.edu 37 7 103029515 103029515 + Missense_Mutation SNP T T C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 103029515 103029515 T C SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.1454 p.D485G 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 tier1 - - 37 0 0.00 22 13 37.14 SLC45A3 0 genome.wustl.edu 37 1 205632390 205632390 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 205632390 205632390 G T SNP SLC45A3 ENST00000367145 human ensembl 74_37 -1 known missense c.529 p.L177I 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 42 0 0.00 64 4 5.88 SLC5A5 0 genome.wustl.edu 37 19 17994849 17994849 + Frame_Shift_Del DEL C C - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 17994849 17994849 C - DEL SLC5A5 ENST00000222248 human ensembl 74_37 +1 known frame_shift_del c.1520 p.S509fs 0.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 tier1 8 0 0.00 7 2 22.22 SOX11 0 genome.wustl.edu 37 2 5834126 5834126 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 5834126 5834126 A C SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.1273 p.I425L 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 - - 59 0 0.00 63 8 11.27 SOX11 0 genome.wustl.edu 37 2 5834126 5834126 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 5834126 5834126 A C SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.1273 p.I425L 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 - - 66 0 0.00 63 8 11.27 SRGAP3 0 genome.wustl.edu 37 3 9291244 9291244 + RNA SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 9291244 9291244 G T SNP SRGAP3 ENST00000490348 human ensembl 74_37 -1 known rna NULL NULL 0.746 - - - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 35 0 0.00 31 4 11.43 SRGAP3 0 genome.wustl.edu 37 3 9291244 9291244 + RNA SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 9291244 9291244 G T SNP SRGAP3 ENST00000490348 human ensembl 74_37 -1 known rna NULL NULL 0.746 - - - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 44 0 0.00 31 4 11.43 SRRM3 0 genome.wustl.edu 37 7 75915066 75915066 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 75915066 75915066 G A SNP SRRM3 ENST00000388802 human ensembl 74_37 +1 known missense c.1868 p.R623H 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM3 HGNC ENSG00000177679 31 0 0.00 42 4 8.70 SRRT 0 genome.wustl.edu 37 7 100478977 100478977 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 100478977 100478977 G A SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.194 p.R65H 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 18 0 0.00 25 2 7.41 SSFA2 0 genome.wustl.edu 37 2 182767078 182767078 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 182767078 182767078 G A SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.1298 p.S433N 0.043 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 tier1 - - 52 0 0.00 55 7 11.29 ST8SIA2 0 genome.wustl.edu 37 15 92981790 92981790 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 15 92981790 92981790 G T SNP ST8SIA2 ENST00000268164 human ensembl 74_37 +1 known missense c.498 p.L166F 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 31 0 0.00 40 3 6.98 SYCP1 0 genome.wustl.edu 37 1 115430251 115430252 + Frame_Shift_Ins INS - - A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 115430251 115430252 - A INS SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_ins c.1195_1196 p.N401fs 1.000:0.995 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 113 0 0.00 136 25 15.53 SYCP1 0 genome.wustl.edu 37 1 115430251 115430251 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 115430251 115430251 G A SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.1195 p.E399K 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 113 0 0.00 152 9 5.59 SYNGR2 0 genome.wustl.edu 37 17 76167522 76167522 + RNA SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 76167522 76167522 G A SNP SYNGR2 ENST00000592456 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SYNGR2 HGNC ENSG00000108639 tier1 - - 62 0 0.00 48 7 12.73 SYNGR4 0 genome.wustl.edu 37 19 48878931 48878931 + Silent SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 48878931 48878931 G T SNP SYNGR4 ENST00000344846 human ensembl 74_37 +1 known silent c.393 p.S131 0.000 pfam_Marvel,pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR4 HGNC ENSG00000105467 27 0 0.00 30 2 6.25 SYT3 0 genome.wustl.edu 37 19 51128486 51128486 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 51128486 51128486 C T SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.1640 p.R547H 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 tier1 - - 24 0 0.00 12 24 66.67 TBP 0 genome.wustl.edu 37 6 170871058 170871058 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 170871058 170871058 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.234 p.Q78 0.998 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 rs113440919 - 100 0 0.00 84 7 7.69 TCHH 0 genome.wustl.edu 37 1 152086555 152086556 + Frame_Shift_Ins INS - - T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 152086555 152086556 - T INS TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 17 0 0.00 23 4 14.81 TCHH 0 genome.wustl.edu 37 1 152086555 152086556 + Frame_Shift_Ins INS - - T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 152086555 152086556 - T INS TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 31 0 0.00 23 4 14.81 TGIF1 0 genome.wustl.edu 37 18 3452225 3452225 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 18 3452225 3452225 C T SNP TGIF1 ENST00000330513 human ensembl 74_37 +1 known missense c.248 p.P83L 0.001 NULL pfam_Homeobox_KN_domain,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF1 HGNC ENSG00000177426 30 0 0.00 88 6 6.38 THUMPD1 0 genome.wustl.edu 37 16 20749250 20749250 + Silent SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 20749250 20749250 G T SNP THUMPD1 ENST00000431224 human ensembl 74_37 -1 known silent c.693 p.L231 0.997 NULL pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD1 HGNC ENSG00000066654 tier1 - - 47 0 0.00 30 22 42.31 TLR10 0 genome.wustl.edu 37 4 38775354 38775354 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 4 38775354 38775354 C T SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known missense c.1858 p.V620I 0.019 pirsf_Toll-like_receptor 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 TLR10 HGNC ENSG00000174123 tier1 - - 71 0 0.00 62 27 30.34 TP53 0 genome.wustl.edu 37 17 7577017 7577017 + Splice_Site SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 17 7577017 7577017 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.919+2 e7+2 0.853 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 62 0 0.00 16 22 57.89 TPRA1 0 genome.wustl.edu 37 3 127294385 127294385 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 127294385 127294385 C T SNP TPRA1 ENST00000465915 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors TPRA1 HGNC ENSG00000163870 tier1 - - 35 0 0.00 38 8 17.39 TPTE2 0 genome.wustl.edu 37 13 20048098 20048098 + Silent SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 13 20048098 20048098 G T SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known silent c.348 p.G116 0.062 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 tier1 - - 144 0 0.00 94 27 22.31 TPX2 0 genome.wustl.edu 37 20 30381807 30381807 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 20 30381807 30381807 A C SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known missense c.1774 p.K592Q 1.000 NULL pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 tier1 - - 54 0 0.00 65 11 14.47 TPX2 0 genome.wustl.edu 37 20 30381807 30381807 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 20 30381807 30381807 A C SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known missense c.1774 p.K592Q 1.000 NULL pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 tier1 - - 74 0 0.00 65 11 14.47 TRIM49 0 genome.wustl.edu 37 11 89536873 89536873 + Missense_Mutation SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 11 89536873 89536873 C A SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.500 p.C167F 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 tier1 - - 100 0 0.00 103 17 14.17 TRPS1 0 genome.wustl.edu 37 8 116617156 116617156 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 116617156 116617156 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1040 p.R347H 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 52 0 0.00 61 5 7.58 TTC1 0 genome.wustl.edu 37 5 159476628 159476628 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 5 159476628 159476628 G A SNP TTC1 ENST00000231238 human ensembl 74_37 +1 known missense c.649 p.E217K 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC1 HGNC ENSG00000113312 tier1 - - 18 0 0.00 15 5 25.00 TTK 0 genome.wustl.edu 37 6 80749976 80749976 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 80749976 80749976 G C SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2371 p.V791L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 tier1 - - 136 0 0.00 74 8 9.76 TTK 0 genome.wustl.edu 37 6 80749976 80749976 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 80749976 80749976 G C SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2371 p.V791L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 tier1 - - 86 0 0.00 74 8 9.76 TTN-AS1 0 genome.wustl.edu 37 2 179469633 179469633 + RNA SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 179469633 179469633 G T SNP TTN-AS1 ENST00000419746 human ensembl 74_37 +1 known rna NULL NULL 0.946 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 51 0 0.00 73 4 5.19 UFD1L 0 genome.wustl.edu 37 22 19466599 19466599 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 22 19466599 19466599 C T SNP UFD1L ENST00000484101 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors UFD1L HGNC ENSG00000070010 tier1 - - 14 0 0.00 18 4 18.18 UFD1L 0 genome.wustl.edu 37 22 19466599 19466599 + RNA SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 22 19466599 19466599 C T SNP UFD1L ENST00000484101 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors UFD1L HGNC ENSG00000070010 tier1 - - 29 0 0.00 18 4 18.18 UNC13C 0 genome.wustl.edu 37 15 54527275 54527276 + Frame_Shift_Ins INS - - A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 15 54527275 54527276 - A INS UNC13C ENST00000260323 human ensembl 74_37 +1 known frame_shift_ins c.3119_3120 p.T1043fs 1.000:1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 51 0 0.00 27 12 30.77 UNC13C 0 genome.wustl.edu 37 15 54527275 54527276 + Frame_Shift_Ins INS - - A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 15 54527275 54527276 - A INS UNC13C ENST00000260323 human ensembl 74_37 +1 known frame_shift_ins c.3119_3120 p.T1043fs 1.000:1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 84 0 0.00 27 12 30.77 UNC5D 0 genome.wustl.edu 37 8 35608185 35608185 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 8 35608185 35608185 G T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2021 p.G674V 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 51 0 0.00 56 4 6.67 UOX 0 genome.wustl.edu 37 1 84835598 84835598 + RNA SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 84835598 84835598 G A SNP UOX ENST00000483236 human ensembl 74_37 -1 known rna NULL NULL 0.448 - - - no_errors UOX HGNC ENSG00000240520 tier1 - - 23 0 0.00 15 17 53.12 USP11 0 genome.wustl.edu 37 X 47104174 47104174 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 X 47104174 47104174 G T SNP USP11 ENST00000218348 human ensembl 74_37 +1 known missense c.2066 p.G689V 0.002 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 tier1 - - 21 0 0.00 9 35 79.55 USP30 0 genome.wustl.edu 37 12 109523554 109523554 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 109523554 109523554 C T SNP USP30 ENST00000257548 human ensembl 74_37 +1 known missense c.1372 p.R458W 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 tier1 - - 39 0 0.00 43 7 14.00 USP45 0 genome.wustl.edu 37 6 99936085 99936085 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 99936085 99936085 G A SNP USP45 ENST00000392738 human ensembl 74_37 -1 known missense c.50 p.T17I 0.979 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 tier1 - - 68 0 0.00 29 31 51.67 VWF 0 genome.wustl.edu 37 12 6103618 6103618 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 12 6103618 6103618 G T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.6219 p.S2073R 1.000 pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 54 0 0.00 56 9 13.85 WASF1 0 genome.wustl.edu 37 6 110429777 110429777 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 110429777 110429777 C T SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known missense c.376 p.D126N 0.977 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 tier1 - - 70 0 0.00 60 17 22.08 XIRP2 0 genome.wustl.edu 37 2 168099201 168099201 + Silent SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 168099201 168099201 C A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.1299 p.V433 0.020 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 52 0 0.00 52 8 13.33 YIPF6 0 genome.wustl.edu 37 X 67751767 67751767 + Missense_Mutation SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 X 67751767 67751767 G A SNP YIPF6 ENST00000462683 human ensembl 74_37 +1 known missense c.637 p.A213T 1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF6 HGNC ENSG00000181704 32 0 0.00 47 3 6.00 ZBTB37 0 genome.wustl.edu 37 1 173840126 173840126 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 173840126 173840126 G C SNP ZBTB37 ENST00000367701 human ensembl 74_37 +1 known missense c.763 p.G255R 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 ZBTB37 HGNC ENSG00000185278 tier1 - - 36 0 0.00 28 17 37.78 ZBTB37 0 genome.wustl.edu 37 1 173840126 173840126 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 1 173840126 173840126 G C SNP ZBTB37 ENST00000367701 human ensembl 74_37 +1 known missense c.763 p.G255R 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 ZBTB37 HGNC ENSG00000185278 tier1 - - 57 0 0.00 28 17 37.78 ZDBF2 0 genome.wustl.edu 37 2 207171385 207171385 + Silent SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 2 207171385 207171385 G T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.2133 p.P711 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 26 0 0.00 27 3 10.00 ZKSCAN7 0 genome.wustl.edu 37 3 44611892 44611892 + Silent SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 44611892 44611892 C A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known silent c.1290 p.L430 0.923 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 tier1 - - 73 0 0.00 87 5 5.43 ZKSCAN7 0 genome.wustl.edu 37 3 44611892 44611892 + Silent SNP C C A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 44611892 44611892 C A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known silent c.1290 p.L430 0.923 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 tier1 - - 88 0 0.00 87 5 5.43 ZNF226 0 genome.wustl.edu 37 19 44681807 44681808 + Frame_Shift_Ins INS - - A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 44681807 44681808 - A INS ZNF226 ENST00000337433 human ensembl 74_37 +1 known frame_shift_ins c.2392_2393 p.S801fs 0.385:0.382 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 ZNF226 HGNC ENSG00000167380 tier1 41 0 0.00 44 14 24.14 ZNF226 0 genome.wustl.edu 37 19 44681807 44681808 + Frame_Shift_Ins INS - - A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 44681807 44681808 - A INS ZNF226 ENST00000337433 human ensembl 74_37 +1 known frame_shift_ins c.2392_2393 p.S801fs 0.385:0.382 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 ZNF226 HGNC ENSG00000167380 tier1 50 0 0.00 44 14 24.14 ZNF333 0 genome.wustl.edu 37 19 14829540 14829540 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 14829540 14829540 C G SNP ZNF333 ENST00000292530 human ensembl 74_37 +1 known missense c.1401 p.S467R 0.002 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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 27 0 0.00 37 3 7.50 ZNF423 0 genome.wustl.edu 37 16 49669664 49669664 + Missense_Mutation SNP T T G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 49669664 49669664 T G SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.3399 p.E1133D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 30 0 0.00 15 6 28.57 ZNF423 0 genome.wustl.edu 37 16 49669664 49669664 + Missense_Mutation SNP T T G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 16 49669664 49669664 T G SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.3399 p.E1133D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 41 0 0.00 15 6 28.57 ZNF445 0 genome.wustl.edu 37 3 44489870 44489870 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 44489870 44489870 C G SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.1293 p.K431N 0.653 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 tier1 - - 26 0 0.00 46 12 20.69 ZNF445 0 genome.wustl.edu 37 3 44489870 44489870 + Missense_Mutation SNP C C G TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 3 44489870 44489870 C G SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.1293 p.K431N 0.653 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 tier1 - - 47 0 0.00 46 12 20.69 ZNF702P 0 genome.wustl.edu 37 19 53472790 53472790 + RNA DEL C C - TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 53472790 53472790 C - DEL ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF702P HGNC ENSG00000242779 tier1 49 0 0.00 26 26 50.00 ZNF91 0 genome.wustl.edu 37 19 23542543 23542543 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 23542543 23542543 A C SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.3238 p.C1080G 0.200 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 ZNF91 HGNC ENSG00000167232 tier1 - - 77 0 0.00 55 15 21.43 ZNF92 0 genome.wustl.edu 37 7 64864193 64864193 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 7 64864193 64864193 G T SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known missense c.1166 p.R389I 0.885 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 ZNF92 HGNC ENSG00000146757 46 0 0.00 42 3 6.67 ZSCAN23 0 genome.wustl.edu 37 6 28403278 28403278 + Missense_Mutation SNP A A C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 6 28403278 28403278 A C SNP ZSCAN23 ENST00000289788 human ensembl 74_37 -1 known missense c.515 p.L172R 0.009 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 ZSCAN23 HGNC ENSG00000187987 tier1 - - 33 0 0.00 29 6 17.14 ZSWIM4 0 genome.wustl.edu 37 19 13934270 13934270 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 13934270 13934270 C T SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.1820 p.T607I 0.999 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 tier1 - - 22 0 0.00 19 8 29.63 ZSWIM4 0 genome.wustl.edu 37 19 13934270 13934270 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ed6348e8-0f78-481c-8e9f-d69e105a6fda e15a5f53-3831-47e4-9f8a-ced7c5d38553 19 13934270 13934270 C T SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.1820 p.T607I 0.999 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 tier1 - - 27 0 0.00 19 8 29.63