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 ABCB10 0 genome.wustl.edu 37 1 229661843 229661843 + Nonsense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 229661843 229661843 G T SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known nonsense c.1746 p.C582* 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 tier1 - - 54 0 0.00 53 4 7.02 ABCC12 0 genome.wustl.edu 37 16 48121857 48121857 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 48121857 48121857 G T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known silent c.3615 p.V1205 1.000 pfam_ABC_transporter-like,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 - no_errors ABCC12 HGNC ENSG00000140798 25 0 0.00 42 4 8.70 ABCG2 0 genome.wustl.edu 37 4 89034590 89034590 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 89034590 89034590 G A SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known silent c.1059 p.S353 0.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 45 0 0.00 29 3 9.38 ABHD2 0 genome.wustl.edu 37 15 89738468 89738468 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 89738468 89738468 G A SNP ABHD2 ENST00000352732 human ensembl 74_37 +1 known silent c.1092 p.E364 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 tier1 - - 47 0 0.00 54 21 28.00 ACTBP12 0 genome.wustl.edu 37 1 92694545 92694545 + RNA SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 92694545 92694545 A C SNP ACTBP12 ENST00000594933 human ensembl 74_37 -1 known rna NULL NULL 0.958 - - - no_errors ACTBP12 HGNC ENSG00000233125 tier1 - - 28 0 0.00 10 11 52.38 ACTG1 0 genome.wustl.edu 37 17 79478583 79478583 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 79478583 79478583 A C SNP ACTG1 ENST00000331925 human ensembl 74_37 -1 known missense c.433 p.S145A 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG1 HGNC ENSG00000184009 tier1 - - 38 0 0.00 67 19 22.09 AFG3L2 0 genome.wustl.edu 37 18 12367358 12367358 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 12367358 12367358 G A SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known missense c.316 p.R106C 0.003 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 39 0 0.00 28 2 6.67 AGRN 0 genome.wustl.edu 37 1 957614 957614 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 957614 957614 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known silent c.235 p.L79 0.098 pfam_Agrin_NtA,superfamily_TIMP-like_OB-fold,pfscan_Agrin_NtA pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 tier1 - - 129 0 0.00 71 41 36.61 AGTR1 0 genome.wustl.edu 37 3 148459671 148459671 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 148459671 148459671 C T SNP AGTR1 ENST00000349243 human ensembl 74_37 +1 known silent c.849 p.A283 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Formyl_pep_rcpt,prints_Brdyknn_rcpt - no_errors AGTR1 HGNC ENSG00000144891 tier1 - - 46 0 0.00 75 4 5.06 AHCYL1 0 genome.wustl.edu 37 1 110557445 110557445 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 110557445 110557445 G T SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.641 p.R214L 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 47 0 0.00 42 3 6.38 ALDH1A1 0 genome.wustl.edu 37 9 75567891 75567891 + Nonsense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 75567891 75567891 A C SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known nonsense c.26 p.L9* 0.996 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 tier1 - - 70 0 0.00 59 17 22.37 ALLC 0 genome.wustl.edu 37 2 3721693 3721693 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 3721693 3721693 C T SNP ALLC ENST00000252505 human ensembl 74_37 +1 known missense c.62 p.A21V 1.000 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 tier1 - - 54 0 0.00 64 4 5.80 AMACR 0 genome.wustl.edu 37 5 34005897 34005897 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 34005897 34005897 A T SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.355 p.L119I 0.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 tier1 - - 59 0 0.00 67 24 26.37 ANK3 0 genome.wustl.edu 37 10 61836146 61836146 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 61836146 61836146 A C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.4493 p.F1498C 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 117 0 0.00 93 122 56.74 ANKRD20A5P 0 genome.wustl.edu 37 18 14179251 14179251 + RNA SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 14179251 14179251 G T SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.058 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 40 0 0.00 22 3 12.00 ANKRD20A5P 0 genome.wustl.edu 37 18 14179258 14179258 + RNA SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 14179258 14179258 T G SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 43 0 0.00 23 3 11.54 ANKRD26 0 genome.wustl.edu 37 10 27323846 27323846 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 27323846 27323846 A C SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.3581 p.L1194R 0.005 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 tier1 - - 24 0 0.00 44 13 22.81 ANKRD30A 0 genome.wustl.edu 37 10 37422955 37422955 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 37422955 37422955 T G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.561 p.H187Q 0.189 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 103 0 0.00 104 33 24.09 ANKRD62 0 genome.wustl.edu 37 18 12125669 12125669 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 12125669 12125669 A G SNP ANKRD62 ENST00000314074 human ensembl 74_37 +1 known missense c.1807 p.T603A 0.660 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 tier1 - - 72 0 0.00 7 16 69.57 ANO2 0 genome.wustl.edu 37 12 5674779 5674779 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 5674779 5674779 G A SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.2675 p.S892L 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 55 0 0.00 54 22 28.95 AP5M1 0 genome.wustl.edu 37 14 57741320 57741320 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 57741320 57741320 G A SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known missense c.433 p.G145S 0.052 NULL pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 tier1 - - 36 0 0.00 26 19 42.22 APBA1 0 genome.wustl.edu 37 9 72091020 72091020 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 72091020 72091020 A C SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.1240 p.S414A 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 tier1 - - 46 0 0.00 42 17 28.81 APOBEC1 0 genome.wustl.edu 37 12 7805406 7805406 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 7805406 7805406 C T SNP APOBEC1 ENST00000229304 human ensembl 74_37 -1 known missense c.70 p.D24N 0.385 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC1 HGNC ENSG00000111701 tier1 - - 37 0 0.00 67 19 21.84 APOBR 0 genome.wustl.edu 37 16 28509621 28509621 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 28509621 28509621 A T SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.3175 p.R1059W 0.001 NULL NULL - no_errors APOBR HGNC ENSG00000184730 62 0 0.00 72 4 5.26 AQR 0 genome.wustl.edu 37 15 35159753 35159753 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 35159753 35159753 C T SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.3826 p.V1276I 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 tier1 - - 64 0 0.00 95 21 18.10 AR 0 genome.wustl.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 66765161 66765161 A T SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.173 p.Q58L 0.920 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 27 0 0.00 27 3 10.00 ASTN1 0 genome.wustl.edu 37 1 177030253 177030253 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 177030253 177030253 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.432 p.S144 0.002 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 57 0 0.00 17 55 76.39 ASXL3 0 genome.wustl.edu 37 18 31319460 31319460 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 31319460 31319460 T G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.2092 p.L698V 0.878 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 56 0 0.00 4 20 83.33 ATP6V1A 0 genome.wustl.edu 37 3 113517250 113517250 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 113517250 113517250 A T SNP ATP6V1A ENST00000273398 human ensembl 74_37 +1 known missense c.1451 p.Q484L 1.000 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 tier1 - - 45 0 0.00 66 4 5.71 B9D1 0 genome.wustl.edu 37 17 19251097 19251097 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 19251097 19251097 C T SNP B9D1 ENST00000261499 human ensembl 74_37 -1 known missense c.341 p.R114Q 1.000 pfam_B9_dom pfam_B9_dom - no_errors B9D1 HGNC ENSG00000108641 tier1 - - 47 0 0.00 48 4 7.69 BAGE2 0 genome.wustl.edu 37 21 11049551 11049551 + RNA SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 21 11049551 11049551 A G SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 83 0 0.00 94 10 9.62 BAI3 0 genome.wustl.edu 37 6 69665964 69665964 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 69665964 69665964 C A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1244 p.T415K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 27 0 0.00 4 26 86.67 BAIAP2 0 genome.wustl.edu 37 17 79059483 79059483 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 79059483 79059483 G A SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known silent c.309 p.T103 0.007 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 22 0 0.00 34 4 10.53 BAZ1B 0 genome.wustl.edu 37 7 72892291 72892291 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 72892291 72892291 G T SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known silent c.1500 p.S500 1.000 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 23 0 0.00 25 3 10.71 BCAS3 0 genome.wustl.edu 37 17 59465981 59465981 + Frame_Shift_Del DEL A A - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 59465981 59465981 A - DEL BCAS3 ENST00000589222 human ensembl 74_37 +1 known frame_shift_del c.2662 p.G891fs 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 tier1 54 0 0.00 60 17 22.08 BCL6 0 genome.wustl.edu 37 3 187447231 187447231 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 187447231 187447231 G A SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.962 p.A321V 0.989 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 35 0 0.00 59 4 6.35 BCR 0 genome.wustl.edu 37 22 23523281 23523281 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 22 23523281 23523281 T A SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.134 p.L45Q 1.000 pfam_Bcr-Abl_oncoprot_oligo,superfamily_Bcr-Abl_oncoprot_oligo pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 50 0 0.00 53 3 5.36 BEND2 0 genome.wustl.edu 37 X 18220001 18220001 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 18220001 18220001 T C SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known missense c.967 p.T323A 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 tier1 - - 48 0 0.00 27 33 55.00 BMP5 0 genome.wustl.edu 37 6 55739327 55739327 + Silent SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 55739327 55739327 T G SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known silent c.337 p.R113 0.881 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 tier1 - - 64 0 0.00 29 14 32.56 BTBD11 0 genome.wustl.edu 37 12 108029076 108029076 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 108029076 108029076 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known silent c.2646 p.S882 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 34 0 0.00 47 4 7.84 BTN2A1 0 genome.wustl.edu 37 6 26463595 26463595 + Frame_Shift_Del DEL T T - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 26463595 26463595 T - DEL BTN2A1 ENST00000312541 human ensembl 74_37 +1 known frame_shift_del c.554 p.A186fs 0.000 pfam_CD80_C2-set pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 tier1 68 0 0.00 48 28 36.84 BZRAP1 0 genome.wustl.edu 37 17 56405068 56405068 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 56405068 56405068 C T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.214 p.V72M 0.000 NULL 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 tier1 - - 75 0 0.00 86 18 17.31 BZW2 0 genome.wustl.edu 37 7 16722452 16722452 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 16722452 16722452 T A SNP BZW2 ENST00000258761 human ensembl 74_37 +1 known missense c.387 p.F129L 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC ENSG00000136261 tier1 - - 56 0 0.00 71 30 29.70 C11orf49 0 genome.wustl.edu 37 11 47178706 47178706 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 47178706 47178706 A T SNP C11orf49 ENST00000378615 human ensembl 74_37 +1 known missense c.584 p.E195V 1.000 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 tier1 - - 69 0 0.00 33 38 53.52 C12orf68 0 genome.wustl.edu 37 12 48577990 48577990 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 48577990 48577990 G A SNP C12orf68 ENST00000316554 human ensembl 74_37 +1 known missense c.85 p.G29R 1.000 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 tier1 - - 67 0 0.00 71 29 29.00 C1orf51 0 genome.wustl.edu 37 1 150255816 150255816 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 150255816 150255816 G A SNP C1orf51 ENST00000290363 human ensembl 74_37 +1 known missense c.139 p.D47N 0.986 NULL NULL - no_errors C1orf51 HGNC ENSG00000159208 tier1 - - 43 0 0.00 34 34 50.00 C3orf52 0 genome.wustl.edu 37 3 111831885 111831885 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 111831885 111831885 T G SNP C3orf52 ENST00000264848 human ensembl 74_37 +1 known missense c.542 p.M181R 0.994 NULL NULL - no_errors C3orf52 HGNC ENSG00000114529 tier1 - - 42 0 0.00 56 17 23.29 C3orf67 0 genome.wustl.edu 37 3 58856003 58856003 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 58856003 58856003 G A SNP C3orf67 ENST00000482387 human ensembl 74_37 -1 known missense c.373 p.R125W 0.000 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 tier1 - - 84 0 0.00 62 4 6.06 C9orf131 0 genome.wustl.edu 37 9 35043395 35043395 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 35043395 35043395 G T SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.769 p.A257S 0.004 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 28 0 0.00 67 4 5.63 CACNB2 0 genome.wustl.edu 37 10 18827127 18827127 + Silent SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 18827127 18827127 T C SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known silent c.1321 p.L441 0.993 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 tier1 - - 69 0 0.00 83 24 22.43 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36764128 36764128 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 36764128 36764128 T G SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.827 p.N276T 0.954 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 tier1 - - 26 0 0.00 31 7 18.42 CCDC180 0 genome.wustl.edu 37 9 100124039 100124039 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 100124039 100124039 G T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.3647 p.S1216I 0.903 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 - - 35 0 0.00 49 4 7.55 CCDC39 0 genome.wustl.edu 37 3 180361933 180361933 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 180361933 180361933 A C SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.1640 p.L547R 0.978 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 46 0 0.00 86 27 23.89 CCT8 0 genome.wustl.edu 37 21 30445906 30445906 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 21 30445906 30445906 C T SNP CCT8 ENST00000286788 human ensembl 74_37 -1 known silent c.6 p.A2 1.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC ENSG00000156261 46 0 0.00 27 4 12.90 CD1E 0 genome.wustl.edu 37 1 158325192 158325192 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 158325192 158325192 T G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.458 p.I153S 0.468 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 44 0 0.00 55 19 25.68 CD33 0 genome.wustl.edu 37 19 51729310 51729310 + Nonsense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 51729310 51729310 G T SNP CD33 ENST00000262262 human ensembl 74_37 +1 known nonsense c.670 p.E224* 0.007 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 tier1 - - 35 0 0.00 46 4 8.00 CD79A 0 genome.wustl.edu 37 19 42383164 42383164 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 42383164 42383164 G A SNP CD79A ENST00000221972 human ensembl 74_37 +1 known missense c.184 p.A62T 0.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 tier1 - - 57 0 0.00 30 19 38.78 CD93 0 genome.wustl.edu 37 20 23065077 23065077 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 23065077 23065077 A G SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.1753 p.Y585H 0.996 superfamily_MFS_dom_general_subst_transpt pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 58 0 0.00 69 4 5.48 CD99L2 0 genome.wustl.edu 37 X 149963744 149963744 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 149963744 149963744 G A SNP CD99L2 ENST00000370377 human ensembl 74_37 -1 known missense c.365 p.A122V 0.831 pfam_CD99L2 pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 tier1 - - 42 0 0.00 69 4 5.48 CDC42BPG 0 genome.wustl.edu 37 11 64603053 64603053 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 64603053 64603053 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.1799 p.P600L 0.004 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 tier1 - - 9 0 0.00 14 4 22.22 CDH22 0 genome.wustl.edu 37 20 44845598 44845598 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 44845598 44845598 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known silent c.705 p.R235 0.011 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 tier1 - - 36 0 0.00 32 12 27.27 CDH6 0 genome.wustl.edu 37 5 31323178 31323178 + Silent SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 31323178 31323178 C G SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known silent c.2136 p.V712 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 50 0 0.00 41 11 20.75 CDH9 0 genome.wustl.edu 37 5 26881552 26881552 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 26881552 26881552 A C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.2063 p.L688R 0.998 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 34 0 0.00 39 24 38.10 CDH9 0 genome.wustl.edu 37 5 26886180 26886180 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 26886180 26886180 C T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1525 p.V509I 0.843 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 59 0 0.00 72 18 20.00 CEMP1 0 genome.wustl.edu 37 16 2580765 2580765 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 2580765 2580765 G T SNP CEMP1 ENST00000382350 human ensembl 74_37 -1 known missense c.310 p.L104I 0.000 NULL NULL - no_errors CEMP1 HGNC ENSG00000205923 tier1 - - 38 0 0.00 48 4 7.69 CENPW 0 genome.wustl.edu 37 6 126667400 126667400 + Nonsense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 126667400 126667400 G T SNP CENPW ENST00000368326 human ensembl 74_37 +1 known nonsense c.136 p.G46* 1.000 NULL NULL - no_errors CENPW HGNC ENSG00000203760 70 0 0.00 49 3 5.77 CEP250 0 genome.wustl.edu 37 20 34084481 34084481 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 34084481 34084481 G T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.3243 p.E1081D 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 - - 51 0 0.00 56 4 6.67 CFH 0 genome.wustl.edu 37 1 196659363 196659363 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 196659363 196659363 C T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1330 p.R444C 0.007 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 49 0 0.00 22 47 68.12 CGN 0 genome.wustl.edu 37 1 151509274 151509274 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 151509274 151509274 C T SNP CGN ENST00000271636 human ensembl 74_37 +1 known silent c.3375 p.D1125 0.033 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 tier1 - - 50 0 0.00 87 5 5.43 CHMP1B 0 genome.wustl.edu 37 18 11851577 11851577 + Frame_Shift_Del DEL A A - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 11851577 11851577 A - DEL CHMP1B ENST00000526991 human ensembl 74_37 +1 known frame_shift_del c.67 p.K24fs 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP1B HGNC ENSG00000255112 tier1 49 0 0.00 22 2 8.33 CHRD 0 genome.wustl.edu 37 3 184103918 184103918 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 184103918 184103918 G T SNP CHRD ENST00000204604 human ensembl 74_37 +1 known missense c.1903 p.G635C 0.793 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 17 0 0.00 16 2 11.11 CHRNA10 0 genome.wustl.edu 37 11 3690541 3690541 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 3690541 3690541 G T SNP CHRNA10 ENST00000250699 human ensembl 74_37 -1 known silent c.247 p.R83 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA10 HGNC ENSG00000129749 33 0 0.00 32 2 5.88 CLDN17 0 genome.wustl.edu 37 21 31538725 31538725 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 21 31538725 31538725 A C SNP CLDN17 ENST00000286808 human ensembl 74_37 -1 known missense c.211 p.L71V 0.538 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 tier1 - - 38 0 0.00 23 15 39.47 CLEC12A 0 genome.wustl.edu 37 12 10133243 10133243 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 10133243 10133243 A C SNP CLEC12A ENST00000355690 human ensembl 74_37 +1 known missense c.472 p.S158R 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 tier1 - - 64 0 0.00 87 27 23.68 CLEC7A 0 genome.wustl.edu 37 12 10282624 10282624 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 10282624 10282624 A C SNP CLEC7A ENST00000304084 human ensembl 74_37 -1 known missense c.58 p.F20V 0.933 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC7A HGNC ENSG00000172243 tier1 - - 31 0 0.00 27 12 30.77 CNGB3 0 genome.wustl.edu 37 8 87755746 87755746 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 87755746 87755746 G T SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.110 p.S37Y 0.002 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 73 0 0.00 82 5 5.75 CNNM2 0 genome.wustl.edu 37 10 104814209 104814209 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 104814209 104814209 G A SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.1889 p.R630H 1.000 superfamily_cNMP-bd-like pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 tier1 - - 37 0 0.00 42 12 22.22 CNPY3 0 genome.wustl.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 42897358 42897360 TGC - DEL CNPY3 ENST00000372836 human ensembl 74_37 +1 known in_frame_del c.50_52 p.L21in_frame_del 0.122:0.131:0.153 NULL pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 tier1 21 0 0.00 13 3 18.75 CNTLN 0 genome.wustl.edu 37 9 17457656 17457656 + Silent SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 17457656 17457656 A G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known silent c.3249 p.S1083 0.938 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 151 0 0.00 80 55 40.74 COG1 0 genome.wustl.edu 37 17 71189440 71189440 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 71189440 71189440 G A SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.232 p.D78N 1.000 NULL NULL - no_errors COG1 HGNC ENSG00000166685 tier1 - - 16 0 0.00 13 7 35.00 COL6A5 0 genome.wustl.edu 37 3 130119948 130119948 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 130119948 130119948 A C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.4065 p.K1355N 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 69 0 0.00 62 72 53.73 COX15 0 genome.wustl.edu 37 10 101473230 101473230 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 101473230 101473230 C A SNP COX15 ENST00000370483 human ensembl 74_37 -1 known missense c.1108 p.V370F 0.035 NULL pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom - no_errors COX15 HGNC ENSG00000014919 27 0 0.00 49 4 7.55 CPSF1 0 genome.wustl.edu 37 8 145618985 145618985 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 145618985 145618985 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known silent c.4042 p.L1348 0.999 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 58 0 0.00 44 4 8.33 CPT1B 0 genome.wustl.edu 37 22 51011955 51011955 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 22 51011955 51011955 C T SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.1160 p.G387E 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 tier1 - - 51 0 0.00 21 14 40.00 CRYAA 0 genome.wustl.edu 37 21 44589332 44589332 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 21 44589332 44589332 G A SNP CRYAA ENST00000291554 human ensembl 74_37 +1 known silent c.123 p.S41 0.995 pfam_Alpha-crystallin_N pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAA HGNC ENSG00000160202 tier1 - - 42 0 0.00 7 11 61.11 CSMD2 0 genome.wustl.edu 37 1 34052206 34052206 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 34052206 34052206 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.6949 p.R2317C 0.992 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 77 0 0.00 34 29 46.03 CSPG4 0 genome.wustl.edu 37 15 75979740 75979740 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 75979740 75979740 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.3666 p.T1222 0.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 91 0 0.00 129 42 24.56 CSRP2BP 0 genome.wustl.edu 37 20 18123370 18123370 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 18123370 18123370 G T SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known silent c.66 p.S22 0.098 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 29 0 0.00 36 3 7.69 CUL5 0 genome.wustl.edu 37 11 107920757 107920758 + Frame_Shift_Ins INS - - A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 107920757 107920758 - A INS CUL5 ENST00000393094 human ensembl 74_37 +1 known frame_shift_ins c.375_376 p.S127fs 1.000:1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 tier1 71 0 0.00 97 21 17.80 CXorf56 0 genome.wustl.edu 37 X 118678377 118678377 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 118678377 118678377 T G SNP CXorf56 ENST00000371594 human ensembl 74_37 -1 known missense c.362 p.K121T 1.000 NULL NULL - no_errors CXorf56 HGNC ENSG00000018610 tier1 - - 29 0 0.00 36 14 28.00 CYFIP2 0 genome.wustl.edu 37 5 156810274 156810274 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 156810274 156810274 G T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.3189 p.E1063D 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 74 0 0.00 69 4 5.48 CYP4Z1 0 genome.wustl.edu 37 1 47581139 47581140 + RNA INS - - A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 47581139 47581140 - A INS CYP4Z1 ENST00000471598 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.010 - - - no_errors CYP4Z1 HGNC ENSG00000186160 tier1 20 0 0.00 20 3 13.04 CYP7B1 0 genome.wustl.edu 37 8 65537027 65537027 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 65537027 65537027 T A SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.192 p.K64N 0.907 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 tier1 - - 74 0 0.00 70 33 32.04 DCAF8L2 0 genome.wustl.edu 37 X 27766867 27766867 + Nonsense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 27766867 27766867 G T SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known nonsense c.1855 p.E619* 0.772 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 - - 26 0 0.00 16 9 36.00 DDX60 0 genome.wustl.edu 37 4 169157430 169157430 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 169157430 169157430 A T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.4506 p.D1502E 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 tier1 - - 53 0 0.00 64 4 5.88 DENND2A 0 genome.wustl.edu 37 7 140269504 140269504 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 140269504 140269504 C T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1481 p.R494Q 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 56 0 0.00 58 24 29.27 DGKG 0 genome.wustl.edu 37 3 185986619 185986619 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 185986619 185986619 C T SNP DGKG ENST00000265022 human ensembl 74_37 -1 known missense c.1087 p.A363T 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 35 0 0.00 55 3 5.17 DIS3L2 0 genome.wustl.edu 37 2 233198653 233198653 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 233198653 233198653 G T SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.2114 p.R705L 1.000 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 50 0 0.00 42 3 6.67 DLGAP5 0 genome.wustl.edu 37 14 55646413 55646413 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 55646413 55646413 G A SNP DLGAP5 ENST00000247191 human ensembl 74_37 -1 known silent c.708 p.N236 0.957 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 54 0 0.00 57 3 5.00 DNAH11 0 genome.wustl.edu 37 7 21784185 21784185 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 21784185 21784185 A G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.8305 p.R2769G 0.972 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,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 51 0 0.00 67 16 19.28 DNAH3 0 genome.wustl.edu 37 16 20996637 20996637 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 20996637 20996637 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.7427 p.I2476T 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 22 0 0.00 28 16 36.36 DOCK2 0 genome.wustl.edu 37 5 169108824 169108824 + Silent SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 169108824 169108824 T C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.547 p.L183 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 62 0 0.00 59 21 26.25 DSCAML1 0 genome.wustl.edu 37 11 117387276 117387276 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 117387276 117387276 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.1869 p.D623 0.497 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 35 0 0.00 23 34 59.65 DSE 0 genome.wustl.edu 37 6 116757008 116757008 + Silent SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 116757008 116757008 T G SNP DSE ENST00000537543 human ensembl 74_37 +1 known silent c.1434 p.T478 0.962 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 tier1 - - 30 0 0.00 5 34 87.18 DSEL 0 genome.wustl.edu 37 18 65180368 65180368 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 65180368 65180368 T C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1508 p.K503R 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 68 0 0.00 8 27 77.14 EDIL3 0 genome.wustl.edu 37 5 83433072 83433072 + Silent SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 83433072 83433072 T C SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known silent c.456 p.R152 0.977 pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 tier1 - - 40 0 0.00 32 14 30.43 EGFLAM 0 genome.wustl.edu 37 5 38407099 38407099 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 38407099 38407099 A C SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.998 p.K333T 0.065 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 - - 48 0 0.00 49 14 21.88 EHD3 0 genome.wustl.edu 37 2 31489489 31489489 + Silent SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 31489489 31489489 A G SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known silent c.1527 p.K509 0.992 smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 tier1 - - 78 0 0.00 50 20 28.57 ELMO1 0 genome.wustl.edu 37 7 37251031 37251031 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 37251031 37251031 T C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1046 p.K349R 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 101 0 0.00 111 26 18.98 ENO2 0 genome.wustl.edu 37 12 7031523 7031523 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 7031523 7031523 C G SNP ENO2 ENST00000229277 human ensembl 74_37 +1 known missense c.1193 p.P398R 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 32 0 0.00 33 2 5.71 ENSG00000161103 0 genome.wustl.edu 37 22 18844968 18844968 + RNA SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 22 18844968 18844968 G T SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 19 0 0.00 8 10 52.63 ENSG00000188850 0 genome.wustl.edu 37 5 43348817 43348817 + RNA DEL A A - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 43348817 43348817 A - DEL ENSG00000188850 ENST00000511991 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-159F24.2 Clone_based_vega_gene ENSG00000188850 tier1 18 0 0.00 18 7 28.00 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117785 117785 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 GL000205.1 117785 117785 C A SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.416 p.A139E NULL NULL pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 tier1 - - 60 0 0.00 39 8 17.02 ENSG00000221785 0 genome.wustl.edu 37 15 30437139 30437139 + RNA SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 30437139 30437139 G A SNP ENSG00000221785 ENST00000408858 human ensembl 74_37 +1 novel rna NULL NULL 0.002 - - - no_errors AC120045.2 Clone_based_ensembl_gene ENSG00000221785 tier1 - - 66 0 0.00 65 22 25.29 ENSG00000232220 0 genome.wustl.edu 37 19 54379104 54379104 + RNA DEL A A - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 54379104 54379104 A - DEL ENSG00000232220 ENST00000413496 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000232220 tier1 33 0 0.00 16 4 20.00 ENSG00000234978 0 genome.wustl.edu 37 1 142803429 142803429 + RNA SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 142803429 142803429 A C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 - - 138 0 0.00 121 16 11.68 ENSG00000254420 0 genome.wustl.edu 37 11 78154810 78154811 + RNA INS - - A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 78154810 78154811 - A INS ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.247:0.000 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 17 0 0.00 19 3 13.64 ENSG00000254614 0 genome.wustl.edu 37 11 64948499 64948499 + Frame_Shift_Del DEL G G - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 64948499 64948499 G - DEL ENSG00000254614 ENST00000526623 human ensembl 74_37 -1 putative frame_shift_del c.499 p.Q167fs 0.114 NULL NULL - no_errors AP003068.23 Clone_based_vega_gene ENSG00000254614 tier1 25 0 0.00 15 21 58.33 ENSG00000259966 0 genome.wustl.edu 37 16 32616253 32616253 + RNA SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 32616253 32616253 A C SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 114 0 0.00 87 28 24.35 ENSG00000270726 0 genome.wustl.edu 37 X 155251726 155251726 + RNA SNP G G C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 155251726 155251726 G C SNP ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 - - 22 0 0.00 12 7 36.84 ENSG00000271011 0 genome.wustl.edu 37 2 179442292 179442293 + RNA INS - - A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 179442292 179442293 - A INS ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.663:0.038 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 tier1 19 0 0.00 29 11 27.50 ENSG00000273010 0 genome.wustl.edu 37 1 111506228 111506228 + RNA SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 111506228 111506228 G A SNP ENSG00000273010 ENST00000609118 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-96K19.5 Clone_based_vega_gene ENSG00000273010 tier1 - - 100 0 0.00 54 38 41.30 EPHA1 0 genome.wustl.edu 37 7 143095515 143095515 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 143095515 143095515 G A SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known silent c.1363 p.L455 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 tier1 - - 52 0 0.00 28 40 58.82 EPHA3 0 genome.wustl.edu 37 3 89259074 89259074 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 89259074 89259074 T A SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.218 p.V73D 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 tier1 - - 59 0 0.00 17 9 34.62 EPHA6 0 genome.wustl.edu 37 3 97466312 97466312 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 97466312 97466312 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known silent c.3174 p.V1058 0.989 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 98 0 0.00 89 81 47.65 EPOR 0 genome.wustl.edu 37 19 11491847 11491847 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 11491847 11491847 G A SNP EPOR ENST00000222139 human ensembl 74_37 -1 known silent c.624 p.S208 1.000 pirsf_Erythropoietin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 tier1 - - 37 0 0.00 34 4 10.53 ERBB2IP 0 genome.wustl.edu 37 5 65349460 65349460 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 65349460 65349460 A G SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.2314 p.T772A 0.030 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 tier1 - - 51 0 0.00 55 28 33.73 ESRP2 0 genome.wustl.edu 37 16 68265592 68265592 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 68265592 68265592 C T SNP ESRP2 ENST00000565858 human ensembl 74_37 -1 known silent c.1335 p.L445 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 32 0 0.00 36 2 5.26 EVI5 0 genome.wustl.edu 37 1 93091470 93091470 + Nonsense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 93091470 93091470 C A SNP EVI5 ENST00000543509 human ensembl 74_37 -1 known nonsense c.1534 p.E512* 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 tier1 - - 32 0 0.00 23 22 48.89 FAM131B 0 genome.wustl.edu 37 7 143056068 143056068 + Frame_Shift_Del DEL C C - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 143056068 143056068 C - DEL FAM131B ENST00000443739 human ensembl 74_37 -1 known frame_shift_del c.318 p.Q107fs 0.683 NULL NULL - no_errors FAM131B HGNC ENSG00000159784 tier1 48 0 0.00 48 18 27.27 FAM138D 0 genome.wustl.edu 37 12 148762 148762 + RNA SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 148762 148762 T A SNP FAM138D ENST00000320165 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors FAM138D HGNC ENSG00000206114 tier1 - - 81 0 0.00 118 20 14.49 FAM13C 0 genome.wustl.edu 37 10 61112095 61112095 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 61112095 61112095 A G SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.259 p.F87L 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 tier1 - - 49 0 0.00 64 13 16.88 FAM205B 0 genome.wustl.edu 37 9 34834584 34834584 + RNA SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 34834584 34834584 T C SNP FAM205B ENST00000455647 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM205B HGNC ENSG00000257198 tier1 - - 81 0 0.00 57 20 25.97 FAM60A 0 genome.wustl.edu 37 12 31448177 31448178 + Frame_Shift_Ins INS - - T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 31448177 31448178 - T INS FAM60A ENST00000337682 human ensembl 74_37 -1 known frame_shift_ins c.219_218 p.N73fs 1.000:1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 tier1 51 0 0.00 30 3 9.09 FAM98C 0 genome.wustl.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 38899502 38899504 AAG - DEL FAM98C ENST00000252530 human ensembl 74_37 +1 known in_frame_del c.1030_1032 p.K347in_frame_del 0.830:0.873:0.987 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 tier1 60 0 0.00 53 8 13.11 FANCC 0 genome.wustl.edu 37 9 97869549 97869549 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 97869549 97869549 G T SNP FANCC ENST00000289081 human ensembl 74_37 -1 known silent c.1332 p.V444 0.199 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 tier1 - - 29 0 0.00 51 4 7.27 FAT2 0 genome.wustl.edu 37 5 150924030 150924030 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 150924030 150924030 A C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.6658 p.F2220V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 46 0 0.00 64 22 25.58 FAT3 0 genome.wustl.edu 37 11 92577768 92577768 + Silent SNP G G C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 92577768 92577768 G C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.11235 p.G3745 0.875 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 27 0 0.00 18 11 36.67 FCAR 0 genome.wustl.edu 37 19 55386812 55386812 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 55386812 55386812 G T SNP FCAR ENST00000355524 human ensembl 74_37 +1 known missense c.61 p.A21S 0.013 NULL smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 tier1 - - 31 0 0.00 35 4 10.26 FCGBP 0 genome.wustl.edu 37 19 40433477 40433477 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 40433477 40433477 A T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.792 p.D264E 0.227 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 18 0 0.00 34 2 5.56 FEM1C 0 genome.wustl.edu 37 5 114878803 114878803 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 114878803 114878803 C T SNP FEM1C ENST00000274457 human ensembl 74_37 -1 known missense c.388 p.E130K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1C HGNC ENSG00000145780 tier1 - - 69 0 0.00 52 22 29.73 FLJ45974 0 genome.wustl.edu 37 7 53833835 53833835 + RNA SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 53833835 53833835 T C SNP FLJ45974 ENST00000380970 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GS1-179L18.1 Clone_based_vega_gene ENSG00000205628 tier1 - - 50 0 0.00 40 19 32.20 FLRT1 0 genome.wustl.edu 37 11 63884398 63884398 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 63884398 63884398 G T SNP FLRT1 ENST00000246841 human ensembl 74_37 +1 known missense c.659 p.G220V 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 73 0 0.00 72 4 5.26 FLRT2 0 genome.wustl.edu 37 14 86088246 86088246 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 86088246 86088246 G T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.388 p.A130S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 19 0 0.00 10 7 41.18 FNBP1L 0 genome.wustl.edu 37 1 93988967 93988967 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 93988967 93988967 A C SNP FNBP1L ENST00000271234 human ensembl 74_37 +1 known missense c.261 p.E87D 1.000 pfam_FCH_dom,smart_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1L HGNC ENSG00000137942 tier1 - - 51 0 0.00 30 22 42.31 FOLR1 0 genome.wustl.edu 37 11 71907014 71907014 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 71907014 71907014 C T SNP FOLR1 ENST00000312293 human ensembl 74_37 +1 known silent c.567 p.C189 0.995 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC ENSG00000110195 tier1 - - 46 0 0.00 65 5 7.14 FOXA1 0 genome.wustl.edu 37 14 38060617 38060617 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 38060617 38060617 C T SNP FOXA1 ENST00000250448 human ensembl 74_37 -1 known missense c.1372 p.A458T 0.996 pfam_Forkhead_box_C pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 tier1 - - 47 0 0.00 13 10 43.48 FOXG1 0 genome.wustl.edu 37 14 29237869 29237869 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 29237869 29237869 A C SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.1384 p.S462R 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 78 0 0.00 46 23 33.33 FOXK1 0 genome.wustl.edu 37 7 4801842 4801842 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 4801842 4801842 C T SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known missense c.1949 p.A650V 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 55 0 0.00 75 4 5.06 FOXP2 0 genome.wustl.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 114270000 114270000 G A SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known silent c.612 p.Q204 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 28 0 0.00 33 2 5.71 FREM1 0 genome.wustl.edu 37 9 14848682 14848682 + Silent SNP G G C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 14848682 14848682 G C SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.1245 p.P415 0.004 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 80 0 0.00 40 29 42.03 FREM2 0 genome.wustl.edu 37 13 39425912 39425912 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 39425912 39425912 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.6832 p.R2278C 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 48 0 0.00 36 2 5.26 FSCB 0 genome.wustl.edu 37 14 44975154 44975154 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 44975154 44975154 A G SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1037 p.L346P 0.009 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 67 0 0.00 40 18 31.03 G2E3 0 genome.wustl.edu 37 14 31058655 31058655 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 31058655 31058655 G T SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.202 p.D68Y 1.000 superfamily_Znf_FYVE_PHD pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 39 0 0.00 34 2 5.56 GABRA2 0 genome.wustl.edu 37 4 46252427 46252427 + Missense_Mutation SNP G G C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 46252427 46252427 G C SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.1269 p.D423E 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 tier1 - - 72 0 0.00 31 25 44.64 GCNT4 0 genome.wustl.edu 37 5 74325642 74325642 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 74325642 74325642 G A SNP GCNT4 ENST00000322348 human ensembl 74_37 -1 known missense c.221 p.S74L 0.997 NULL pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 tier1 rs149074938 - 32 0 0.00 36 11 23.40 GDF6 0 genome.wustl.edu 37 8 97172823 97172823 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 97172823 97172823 G A SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.98 p.S33L 0.998 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 tier1 - - 110 0 0.00 116 41 26.11 GJA10 0 genome.wustl.edu 37 6 90604691 90604691 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 90604691 90604691 A C SNP GJA10 ENST00000369352 human ensembl 74_37 +1 known missense c.504 p.E168D 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 tier1 - - 55 0 0.00 25 17 40.48 GLB1L3 0 genome.wustl.edu 37 11 134147682 134147682 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 134147682 134147682 T C SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known missense c.238 p.F80L 1.000 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 tier1 - - 57 0 0.00 31 38 55.07 GLYATL2 0 genome.wustl.edu 37 11 58602155 58602155 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 58602155 58602155 A G SNP GLYATL2 ENST00000287275 human ensembl 74_37 -1 known missense c.632 p.L211P 0.011 pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL2 HGNC ENSG00000156689 tier1 - - 52 0 0.00 45 15 25.00 GOLGA6L7P 0 genome.wustl.edu 37 15 29091084 29091084 + RNA SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 29091084 29091084 T A SNP GOLGA6L7P ENST00000569815 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 tier1 - - 206 0 0.00 206 44 17.60 GRIA2 0 genome.wustl.edu 37 4 158284035 158284035 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 158284035 158284035 G T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.2491 p.A831S 1.000 prints_NMDA_rcpt 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 GRIA2 HGNC ENSG00000120251 tier1 - - 96 0 0.00 57 20 25.97 GRID2IP 0 genome.wustl.edu 37 7 6548686 6548686 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 6548686 6548686 C T SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative missense c.2030 p.R677H 0.922 NULL pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 34 0 0.00 54 17 23.94 GUCY1B2 0 genome.wustl.edu 37 13 51578449 51578449 + RNA SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 51578449 51578449 C T SNP GUCY1B2 ENST00000485590 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GUCY1B2 HGNC ENSG00000123201 38 0 0.00 47 4 7.84 HAND1 0 genome.wustl.edu 37 5 153857302 153857302 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 153857302 153857302 G A SNP HAND1 ENST00000231121 human ensembl 74_37 -1 known silent c.267 p.G89 0.569 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND1 HGNC ENSG00000113196 tier1 - - 16 0 0.00 8 4 33.33 HBP1 0 genome.wustl.edu 37 7 106827032 106827032 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 106827032 106827032 A T SNP HBP1 ENST00000222574 human ensembl 74_37 +1 known missense c.671 p.H224L 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom - no_errors HBP1 HGNC ENSG00000105856 tier1 - - 83 0 0.00 58 35 37.63 HERC1 0 genome.wustl.edu 37 15 63991149 63991149 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 63991149 63991149 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.4683 p.R1561 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 34 0 0.00 39 5 11.36 HERC1 0 genome.wustl.edu 37 15 64027049 64027049 + Splice_Site SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 64027049 64027049 C G SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known splice_site c.2521-1 e12-1 1.000 - - - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 26 0 0.00 22 17 43.59 HEY2 0 genome.wustl.edu 37 6 126080933 126080933 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 126080933 126080933 A C SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known missense c.999 p.E333D 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 tier1 - - 46 0 0.00 22 19 46.34 HLA-B 0 genome.wustl.edu 37 6 31323162 31323162 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 31323162 31323162 C A SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.827 p.G276V 0.998 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 59 0 0.00 46 10 17.86 HLA-B 0 genome.wustl.edu 37 6 31323163 31323163 + Nonsense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 31323163 31323163 C A SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known nonsense c.826 p.G276* 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 59 0 0.00 46 10 17.86 HLA-C 0 genome.wustl.edu 37 6 31238055 31238055 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 31238055 31238055 C A SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known missense c.827 p.G276V 0.811 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 tier1 - - 32 0 0.00 4 18 81.82 HLA-C 0 genome.wustl.edu 37 6 31238056 31238056 + Nonsense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 31238056 31238056 C A SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known nonsense c.826 p.G276* 0.856 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 tier1 - - 31 0 0.00 4 18 81.82 HLA-C 0 genome.wustl.edu 37 6 31238853 31238853 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 31238853 31238853 C T SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known missense c.616 p.A206T 0.589 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 42 0 0.00 34 4 10.53 HLA-DQB2 0 genome.wustl.edu 37 6 32726627 32726627 + Nonsense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 32726627 32726627 G A SNP HLA-DQB2 ENST00000411527 human ensembl 74_37 -1 known nonsense c.646 p.R216* 0.989 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQB2 HGNC ENSG00000232629 tier1 - - 65 0 0.00 30 22 42.31 HLA-DRB5 0 genome.wustl.edu 37 6 32489822 32489822 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 32489822 32489822 C T SNP HLA-DRB5 ENST00000374975 human ensembl 74_37 -1 known missense c.230 p.R77Q 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRB5 HGNC ENSG00000198502 31 0 0.00 8 3 27.27 HMCN1 0 genome.wustl.edu 37 1 185962449 185962449 + RNA SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 185962449 185962449 T C SNP HMCN1 ENST00000485744 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 87 0 0.00 75 46 38.02 HMCN1 0 genome.wustl.edu 37 1 185962471 185962471 + RNA SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 185962471 185962471 C T SNP HMCN1 ENST00000485744 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 79 0 0.00 38 74 66.07 HMGB1P5 0 genome.wustl.edu 37 3 22424366 22424366 + RNA SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 22424366 22424366 G T SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 33 0 0.00 17 3 15.00 HSDL1 0 genome.wustl.edu 37 16 84163988 84163988 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 84163988 84163988 C T SNP HSDL1 ENST00000219439 human ensembl 74_37 -1 known missense c.269 p.R90Q 0.944 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSDL1 HGNC ENSG00000103160 tier1 - - 54 0 0.00 58 24 29.27 HSPB3 0 genome.wustl.edu 37 5 53751848 53751848 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 53751848 53751848 G A SNP HSPB3 ENST00000302005 human ensembl 74_37 +1 known missense c.229 p.V77M 1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB3 HGNC ENSG00000169271 tier1 rs148535965 - 30 0 0.00 16 23 58.97 HTT 0 genome.wustl.edu 37 4 3231719 3231719 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 3231719 3231719 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.8215 p.A2739T 0.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 33 0 0.00 13 12 48.00 HUWE1 0 genome.wustl.edu 37 X 53661227 53661227 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 53661227 53661227 G T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known silent c.528 p.G176 0.996 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 32 0 0.00 37 4 9.76 IDO1 0 genome.wustl.edu 37 8 39785408 39785408 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 39785408 39785408 T G SNP IDO1 ENST00000518237 human ensembl 74_37 +1 known missense c.916 p.F306V 0.256 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO1 HGNC ENSG00000131203 tier1 - - 64 0 0.00 71 21 22.83 IFIT3 0 genome.wustl.edu 37 10 91098633 91098633 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 91098633 91098633 T C SNP IFIT3 ENST00000371811 human ensembl 74_37 +1 known missense c.221 p.L74S 0.452 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT3 HGNC ENSG00000119917 tier1 - - 27 0 0.00 39 12 23.53 IFT80 0 genome.wustl.edu 37 3 160156367 160156368 + Frame_Shift_Ins INS - - T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 160156367 160156368 - T INS IFT80 ENST00000483754 human ensembl 74_37 -1 known frame_shift_ins c.605_604 p.S202fs 0.000:0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 tier1 15 0 0.00 27 5 15.62 IL6R 0 genome.wustl.edu 37 1 154401896 154401896 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 154401896 154401896 G T SNP IL6R ENST00000368485 human ensembl 74_37 +1 known missense c.310 p.G104W 0.084 smart_Ig_sub pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL6R HGNC ENSG00000160712 tier1 - - 54 0 0.00 71 4 5.33 IRGC 0 genome.wustl.edu 37 19 44222750 44222750 + Nonsense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 44222750 44222750 G T SNP IRGC ENST00000244314 human ensembl 74_37 +1 known nonsense c.40 p.E14* 1.000 NULL pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 30 0 0.00 49 4 7.55 IRX1 0 genome.wustl.edu 37 5 3599410 3599410 + Silent SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 3599410 3599410 T C SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.348 p.A116 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 42 0 0.00 58 11 15.94 ITK 0 genome.wustl.edu 37 5 156641262 156641262 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 156641262 156641262 A T SNP ITK ENST00000422843 human ensembl 74_37 +1 known missense c.386 p.K129M 1.000 pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 65 0 0.00 33 14 29.79 ITPKB 0 genome.wustl.edu 37 1 226827315 226827315 + Silent SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 226827315 226827315 C A SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known silent c.2496 p.T832 0.609 pfam_IPK pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 tier1 - - 51 0 0.00 47 4 7.84 KCND3 0 genome.wustl.edu 37 1 112525093 112525093 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 112525093 112525093 G A SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.256 p.R86W 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 tier1 - - 37 0 0.00 27 8 22.86 KCNH6 0 genome.wustl.edu 37 17 61601570 61601570 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 61601570 61601570 C T SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known silent c.147 p.C49 0.851 pfam_PAS_fold,superfamily_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 tier1 - - 42 0 0.00 56 13 18.84 KCNQ3 0 genome.wustl.edu 37 8 133198348 133198348 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 133198348 133198348 A T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.467 p.L156H 0.999 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 79 0 0.00 72 26 26.53 KCTD3 0 genome.wustl.edu 37 1 215794365 215794365 + RNA SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 215794365 215794365 C A SNP KCTD3 ENST00000495537 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors KCTD3 HGNC ENSG00000136636 tier1 - - 47 0 0.00 20 20 50.00 KIAA0355 0 genome.wustl.edu 37 19 34818396 34818396 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 34818396 34818396 G T SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.776 p.C259F 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 tier1 - - 48 0 0.00 68 4 5.56 KIAA1244 0 genome.wustl.edu 37 6 138655319 138655319 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 138655319 138655319 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.5336 p.R1779K 1.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 22 0 0.00 26 2 7.14 KIAA1328 0 genome.wustl.edu 37 18 34414279 34414279 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 34414279 34414279 G A SNP KIAA1328 ENST00000591619 human ensembl 74_37 +1 known missense c.43 p.V15I 0.042 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 tier1 - - 46 0 0.00 10 21 67.74 KIAA1551 0 genome.wustl.edu 37 12 32134669 32134669 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 32134669 32134669 G T SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.780 p.Q260H 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 22 0 0.00 25 10 28.57 KIAA1551 0 genome.wustl.edu 37 12 32135390 32135390 + Missense_Mutation SNP G G C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 32135390 32135390 G C SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.1501 p.D501H 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 35 0 0.00 44 36 45.00 KIAA1551 0 genome.wustl.edu 37 12 32135420 32135420 + Nonsense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 32135420 32135420 G T SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known nonsense c.1531 p.E511* 0.002 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 29 0 0.00 54 28 34.15 KIAA1551 0 genome.wustl.edu 37 12 32135882 32135882 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 32135882 32135882 G A SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.1993 p.D665N 0.001 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 33 0 0.00 53 43 44.79 KIF17 0 genome.wustl.edu 37 1 21016693 21016693 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 21016693 21016693 G T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known silent c.1369 p.R457 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 39 0 0.00 34 2 5.56 KIF26A 0 genome.wustl.edu 37 14 104641616 104641616 + Nonsense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 104641616 104641616 C T SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known nonsense c.2491 p.R831* 0.287 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 31 0 0.00 13 10 41.67 KLHDC4 0 genome.wustl.edu 37 16 87741508 87741508 + RNA SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 87741508 87741508 C T SNP KLHDC4 ENST00000316853 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KLHDC4 HGNC ENSG00000104731 tier1 - - 56 0 0.00 56 4 6.67 KRT77 0 genome.wustl.edu 37 12 53088453 53088453 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 53088453 53088453 G T SNP KRT77 ENST00000341809 human ensembl 74_37 -1 known missense c.1037 p.A346E 0.697 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT77 HGNC ENSG00000189182 tier1 - - 37 0 0.00 54 4 6.90 LAMA3 0 genome.wustl.edu 37 18 21519301 21519301 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 21519301 21519301 C G SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.8977 p.P2993A 1.000 pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 29 0 0.00 21 10 32.26 LAMA3 0 genome.wustl.edu 37 18 21519331 21519331 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 21519331 21519331 C A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.9007 p.Q3003K 0.813 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 28 0 0.00 23 9 28.12 LINC00474 0 genome.wustl.edu 37 9 118666897 118666897 + RNA SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 118666897 118666897 G T SNP LINC00474 ENST00000374014 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00474 HGNC ENSG00000204148 tier1 - - 69 0 0.00 62 39 38.61 LMO7 0 genome.wustl.edu 37 13 76381620 76381620 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 76381620 76381620 T A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.1357 p.F453I 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 34 0 0.00 24 37 60.66 LOC100190940 0 genome.wustl.edu 37 12 130520953 130520953 + RNA SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 130520953 130520953 T C SNP LOC100190940 ENST00000291374 human ensembl 74_37 -1 known rna NULL NULL 0.052 - - - no_errors RP11-474D1.3 Clone_based_vega_gene ENSG00000214039 28 0 0.00 30 3 9.09 LOC101927905 0 genome.wustl.edu 37 12 8388086 8388086 + RNA SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 8388086 8388086 C T SNP LOC101927905 ENST00000304751 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors RP11-266K4.9 Clone_based_vega_gene ENSG00000215241 tier1 - - 229 0 0.00 69 109 61.24 LOC101928102 0 genome.wustl.edu 37 9 44869945 44869945 + Silent SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 44869945 44869945 T C SNP LOC101928102 ENST00000448436 human ensembl 74_37 +1 putative silent c.81 p.S27 0.010 NULL NULL - no_errors RP11-160N1.10 Clone_based_vega_gene ENSG00000204814 tier1 - - 462 0 0.00 371 164 30.65 LOC101928703 0 genome.wustl.edu 37 4 183064315 183064315 + RNA SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 183064315 183064315 A G SNP LOC101928703 ENST00000315302 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC108142.1 Clone_based_vega_gene ENSG00000177822 tier1 - - 53 0 0.00 26 8 23.53 LRFN1 0 genome.wustl.edu 37 19 39804743 39804743 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 39804743 39804743 C T SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.1234 p.A412T 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 - - 41 0 0.00 40 10 19.61 LRIT2 0 genome.wustl.edu 37 10 85981684 85981684 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 85981684 85981684 T C SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.1675 p.N559D 0.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 tier1 - - 46 0 0.00 57 4 6.56 LRRC43 0 genome.wustl.edu 37 12 122674687 122674687 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 122674687 122674687 G T SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.673 p.V225F 0.947 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 tier1 - - 61 0 0.00 62 27 30.34 LRRC8B 0 genome.wustl.edu 37 1 90049626 90049626 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 90049626 90049626 T C SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.1417 p.S473P 0.882 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 tier1 - - 35 0 0.00 17 3 15.00 LRRK2 0 genome.wustl.edu 37 12 40681184 40681184 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 40681184 40681184 C T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.2532 p.I844 0.991 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 23 0 0.00 50 14 21.88 LRRK2 0 genome.wustl.edu 37 12 40681261 40681261 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 40681261 40681261 C G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2609 p.S870C 0.061 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 40 0 0.00 62 12 16.22 LYG1 0 genome.wustl.edu 37 2 99900948 99900948 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 99900948 99900948 C T SNP LYG1 ENST00000308528 human ensembl 74_37 -1 known missense c.493 p.A165T 0.000 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC ENSG00000144214 47 0 0.00 62 4 6.06 MACF1 0 genome.wustl.edu 37 1 39812766 39812766 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 39812766 39812766 C G SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.10810 p.L3604V 1.000 superfamily_RNaseH-like_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 21 0 0.00 18 10 35.71 MAGEB4 0 genome.wustl.edu 37 X 30261075 30261075 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 30261075 30261075 A G SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known missense c.823 p.R275G 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 tier1 - - 47 0 0.00 46 21 31.34 MAGEE1 0 genome.wustl.edu 37 X 75649975 75649975 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 75649975 75649975 T C SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1652 p.L551P 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 17 0 0.00 17 24 58.54 MAN2C1 0 genome.wustl.edu 37 15 75660485 75660485 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 75660485 75660485 C T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known silent c.156 p.E52 0.184 NULL pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 tier1 - - 21 0 0.00 16 6 27.27 MAP1A 0 genome.wustl.edu 37 15 43817807 43817807 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 43817807 43817807 T A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.4136 p.V1379E 0.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 25 0 0.00 47 4 7.55 MAP4K2 0 genome.wustl.edu 37 11 64564335 64564335 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 64564335 64564335 C A SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.1438 p.G480C 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 tier1 - - 47 0 0.00 37 43 53.75 MCM7 0 genome.wustl.edu 37 7 99697343 99697343 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 99697343 99697343 A G SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known missense c.145 p.Y49H 0.742 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 tier1 - - 68 0 0.00 70 4 5.41 MDGA2 0 genome.wustl.edu 37 14 47343308 47343308 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 47343308 47343308 T C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2533 p.R845G 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 63 0 0.00 30 23 43.40 MEI1 0 genome.wustl.edu 37 22 42159250 42159250 + Frame_Shift_Del DEL C C - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 22 42159250 42159250 C - DEL MEI1 ENST00000401548 human ensembl 74_37 +1 known frame_shift_del c.2193 p.P733fs 0.047 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 tier1 26 0 0.00 30 2 6.25 MGAT3 0 genome.wustl.edu 37 22 39883741 39883741 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 22 39883741 39883741 C T SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.389 p.P130L 0.000 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 tier1 - - 33 0 0.00 19 10 34.48 MIR4265 0 genome.wustl.edu 37 2 109757978 109757978 + RNA SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 109757978 109757978 C T SNP MIR4265 ENST00000582152 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4265 HGNC ENSG00000264934 tier1 - - 31 0 0.00 58 4 6.45 MKRN3 0 genome.wustl.edu 37 15 23811324 23811324 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 23811324 23811324 T G SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.395 p.V132G 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 31 0 0.00 40 17 29.82 MROH2B 0 genome.wustl.edu 37 5 41017990 41017990 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 41017990 41017990 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.2846 p.A949V 0.614 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 rs199545321 - 60 0 0.00 55 12 17.91 MSANTD4 0 genome.wustl.edu 37 11 105880425 105880425 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 105880425 105880425 T C SNP MSANTD4 ENST00000301919 human ensembl 74_37 -1 known missense c.875 p.D292G 1.000 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 tier1 - - 34 0 0.00 18 37 67.27 MST1L 0 genome.wustl.edu 37 1 17084127 17084127 + RNA SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 17084127 17084127 A T SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors MST1L HGNC ENSG00000186715 tier1 - - 243 0 0.00 192 12 5.88 MT-CO1 0 genome.wustl.edu 37 MT 6898 6898 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 MT 6898 6898 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.995 p.M332T 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 - - 97 0 0.00 9 2 18.18 MT-ND5 0 genome.wustl.edu 37 MT 12358 12358 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 MT 12358 12358 A G SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.22 p.T8A NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 rs201027657 - 71 0 0.00 9 2 18.18 MT-ND5 0 genome.wustl.edu 37 MT 13044 13044 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 MT 13044 13044 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.708 p.A236 NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 56 0 0.00 12 2 14.29 MT-ND5 0 genome.wustl.edu 37 MT 13178 13178 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 MT 13178 13178 G T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.842 p.G281V NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 73 0 0.00 12 2 14.29 MT1DP 0 genome.wustl.edu 37 16 56677643 56677643 + RNA SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 56677643 56677643 C A SNP MT1DP ENST00000463480 human ensembl 74_37 +1 known rna NULL NULL 0.850 - - - no_errors MT1DP HGNC ENSG00000205361 tier1 - - 40 0 0.00 70 5 6.67 MTERFD1 0 genome.wustl.edu 37 8 97270593 97270593 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 97270593 97270593 A C SNP MTERFD1 ENST00000287025 human ensembl 74_37 -1 known missense c.326 p.F109C 0.003 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD1 HGNC ENSG00000156469 tier1 - - 33 0 0.00 36 20 35.71 MTUS2 0 genome.wustl.edu 37 13 29601027 29601027 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 29601027 29601027 A C SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2222 p.K741T 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 19 0 0.00 8 5 38.46 MUC16 0 genome.wustl.edu 37 19 9083725 9083725 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 9083725 9083725 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.8090 p.L2697P 0.776 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 40 0 0.00 24 12 33.33 MYH11 0 genome.wustl.edu 37 16 15839072 15839072 + Nonsense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 15839072 15839072 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known nonsense c.2455 p.Q819* 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 66 0 0.00 70 4 5.41 MYO1B 0 genome.wustl.edu 37 2 192279381 192279381 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 192279381 192279381 G A SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.3145 p.V1049I 0.047 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 39 0 0.00 28 2 6.67 NBPF14 0 genome.wustl.edu 37 1 148024806 148024806 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 148024806 148024806 G A SNP NBPF14 ENST00000369219 human ensembl 74_37 -1 known missense c.191 p.P64L 0.011 NULL pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 tier1 - - 56 0 0.00 40 25 38.46 NCAPD3 0 genome.wustl.edu 37 11 134062627 134062627 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 134062627 134062627 A G SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.2002 p.W668R 0.998 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 tier1 - - 56 0 0.00 61 4 6.15 NCK2 0 genome.wustl.edu 37 2 106471692 106471692 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 106471692 106471692 G T SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.173 p.R58L 1.000 smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 81 0 0.00 74 4 5.13 NCOA1 0 genome.wustl.edu 37 2 24952369 24952369 + Splice_Site SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 24952369 24952369 G A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known splice_site c.2887-1 e13-1 1.000 - - - no_errors NCOA1 HGNC ENSG00000084676 tier1 - - 37 0 0.00 49 4 7.55 NCOA5 0 genome.wustl.edu 37 20 44692181 44692181 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 44692181 44692181 T C SNP NCOA5 ENST00000290231 human ensembl 74_37 -1 known missense c.968 p.Q323R 1.000 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 43 0 0.00 54 4 6.90 NCR1 0 genome.wustl.edu 37 19 55420679 55420679 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 55420679 55420679 G T SNP NCR1 ENST00000291890 human ensembl 74_37 +1 known missense c.431 p.C144F 0.150 smart_Ig_sub smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 tier1 - - 39 0 0.00 51 4 7.27 NECAB1 0 genome.wustl.edu 37 8 91804183 91804183 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 91804183 91804183 C G SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known missense c.69 p.H23Q 0.996 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 tier1 - - 44 0 0.00 42 26 38.24 NEUROD1 0 genome.wustl.edu 37 2 182543449 182543449 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 182543449 182543449 T C SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known missense c.139 p.N47D 0.996 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 tier1 - - 42 0 0.00 49 4 7.55 NHSL1 0 genome.wustl.edu 37 6 138753531 138753531 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 138753531 138753531 G T SNP NHSL1 ENST00000427025 human ensembl 74_37 -1 known silent c.1963 p.R655 0.008 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 32 0 0.00 21 2 8.70 NID2 0 genome.wustl.edu 37 14 52481849 52481849 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 52481849 52481849 C T SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.3173 p.S1058N 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,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 NID2 HGNC ENSG00000087303 tier1 - - 52 0 0.00 24 13 35.14 NLRC4 0 genome.wustl.edu 37 2 32475733 32475733 + Silent SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 32475733 32475733 A G SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known silent c.1200 p.G400 0.963 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 tier1 - - 62 0 0.00 52 21 28.77 NLRP3 0 genome.wustl.edu 37 1 247587770 247587770 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 247587770 247587770 C T SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1025 p.P342L 0.993 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 tier1 - - 17 0 0.00 13 7 35.00 NOB1 0 genome.wustl.edu 37 16 69783468 69783468 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 69783468 69783468 G T SNP NOB1 ENST00000268802 human ensembl 74_37 -1 known silent c.393 p.P131 0.998 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 - - 64 0 0.00 57 4 6.45 NONO 0 genome.wustl.edu 37 X 70518236 70518236 + RNA SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 70518236 70518236 C A SNP NONO ENST00000473525 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NONO HGNC ENSG00000147140 25 0 0.00 52 3 5.45 NOTCH4 0 genome.wustl.edu 37 6 32171621 32171621 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 32171621 32171621 G T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.3157 p.Q1053K 0.940 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 60 0 0.00 62 4 6.06 NPIPB5 0 genome.wustl.edu 37 16 22545272 22545272 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 22545272 22545272 C T SNP NPIPB5 ENST00000424340 human ensembl 74_37 +1 known missense c.968 p.P323L 0.985 NULL NULL - no_errors NPIPB5 HGNC ENSG00000243716 tier1 - - 17 0 0.00 12 5 29.41 NPR2 0 genome.wustl.edu 37 9 35809417 35809417 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 35809417 35809417 G A SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.3119 p.R1040Q 0.711 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 tier1 rs146546770 - 56 0 0.00 80 8 9.09 NPR3 0 genome.wustl.edu 37 5 32711945 32711945 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 32711945 32711945 C T SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known silent c.63 p.A21 0.005 NULL pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 tier1 - - 47 0 0.00 37 18 32.73 NR3C2 0 genome.wustl.edu 37 4 149356787 149356787 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 149356787 149356787 G A SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.1226 p.S409L 0.997 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 42 0 0.00 37 2 5.13 NRG3 0 genome.wustl.edu 37 10 84745032 84745032 + Nonsense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 84745032 84745032 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known nonsense c.1834 p.Q612* 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 20 0 0.00 46 4 8.00 NTSR1 0 genome.wustl.edu 37 20 61386239 61386239 + Splice_Site SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 61386239 61386239 G A SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known splice_site c.916+1 e2+1 1.000 - - - no_errors NTSR1 HGNC ENSG00000101188 tier1 - - 14 0 0.00 17 6 26.09 NUP153 0 genome.wustl.edu 37 6 17675873 17675873 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 17675873 17675873 C T SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.463 p.A155T 0.985 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 tier1 - - 55 0 0.00 45 4 8.16 NXF4 0 genome.wustl.edu 37 X 101823513 101823513 + RNA SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 101823513 101823513 T C SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.853 - - - no_errors NXF4 HGNC ENSG00000196970 tier1 - - 22 0 0.00 14 7 33.33 OCA2 0 genome.wustl.edu 37 15 28096615 28096615 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 28096615 28096615 C T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.2251 p.V751M 0.999 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 36 0 0.00 50 3 5.66 OR10G6 0 genome.wustl.edu 37 11 123865724 123865724 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 123865724 123865724 A C SNP OR10G6 ENST00000307002 human ensembl 74_37 -1 known missense c.145 p.F49V 0.979 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G6 HGNC ENSG00000198674 tier1 - - 45 0 0.00 29 19 39.58 OR13C2 0 genome.wustl.edu 37 9 107367226 107367226 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 107367226 107367226 A C SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known missense c.683 p.I228S 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 tier1 - - 39 0 0.00 63 30 32.26 OR13C9 0 genome.wustl.edu 37 9 107379691 107379691 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 107379691 107379691 T A SNP OR13C9 ENST00000259362 human ensembl 74_37 -1 known missense c.795 p.K265N 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 tier1 - - 71 0 0.00 66 24 26.67 OR2A7 0 genome.wustl.edu 37 7 143955883 143955883 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 143955883 143955883 A C SNP OR2A7 ENST00000493325 human ensembl 74_37 -1 known missense c.839 p.F280C 0.851 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A7 HGNC ENSG00000243896 tier1 - - 50 0 0.00 50 17 25.37 OR4K14 0 genome.wustl.edu 37 14 20483046 20483046 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 20483046 20483046 A C SNP OR4K14 ENST00000305045 human ensembl 74_37 -1 known missense c.307 p.F103V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 tier1 - - 40 0 0.00 22 16 42.11 OR51B2 0 genome.wustl.edu 37 11 5345083 5345083 + Silent SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 5345083 5345083 T G SNP OR51B2 ENST00000328813 human ensembl 74_37 -1 known silent c.445 p.R149 0.836 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B2 HGNC ENSG00000184881 tier1 - - 45 0 0.00 17 9 34.62 OR56B1 0 genome.wustl.edu 37 11 5758323 5758323 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 5758323 5758323 G T SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.577 p.V193F 0.775 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 17 0 0.00 18 3 14.29 OR5D13 0 genome.wustl.edu 37 11 55541046 55541046 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 55541046 55541046 T G SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.133 p.L45V 0.000 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 OR5D13 HGNC ENSG00000198877 tier1 - - 47 0 0.00 40 15 27.27 OR5D16 0 genome.wustl.edu 37 11 55606285 55606285 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 55606285 55606285 T C SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.58 p.S20P 0.998 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 tier1 - - 60 0 0.00 42 19 31.15 OR5L2 0 genome.wustl.edu 37 11 55594728 55594728 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 55594728 55594728 T G SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.34 p.F12V 0.960 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 45 0 0.00 38 25 39.68 OR8H3 0 genome.wustl.edu 37 11 55890618 55890618 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 55890618 55890618 T C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.770 p.F257S 0.482 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 33 0 0.00 45 15 25.00 ORC3 0 genome.wustl.edu 37 6 88372833 88372833 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 88372833 88372833 G A SNP ORC3 ENST00000257789 human ensembl 74_37 +1 known missense c.1807 p.A603T 1.000 NULL pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 tier1 - - 51 0 0.00 44 4 8.33 PAPPA 0 genome.wustl.edu 37 9 118950282 118950282 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 118950282 118950282 A T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.1265 p.E422V 1.000 pfam_Notch_dom,smart_Notch_dom pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 19 0 0.00 20 9 31.03 PARD3 0 genome.wustl.edu 37 10 34625164 34625164 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 34625164 34625164 G A SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known silent c.2577 p.D859 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 52 0 0.00 85 5 5.56 PARP9 0 genome.wustl.edu 37 3 122274685 122274685 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 122274685 122274685 C T SNP PARP9 ENST00000360356 human ensembl 74_37 -1 known silent c.438 p.G146 0.000 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 tier1 - - 14 0 0.00 25 9 26.47 PAXIP1 0 genome.wustl.edu 37 7 154760285 154760285 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 154760285 154760285 C G SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.1626 p.Q542H 0.930 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 35 0 0.00 32 3 8.57 PCDH11X 0 genome.wustl.edu 37 X 91873794 91873794 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 91873794 91873794 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3899 p.A1300V 0.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 37 0 0.00 8 33 80.49 PCDH9 0 genome.wustl.edu 37 13 67800669 67800669 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 67800669 67800669 C A SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.1904 p.R635I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 38 0 0.00 47 4 7.84 PCDHB3 0 genome.wustl.edu 37 5 140481002 140481002 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 140481002 140481002 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.769 p.V257I 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 19 0 0.00 24 10 29.41 PCDHGB4 0 genome.wustl.edu 37 5 140767797 140767797 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 140767797 140767797 T A SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.346 p.F116I 0.970 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 tier1 - - 17 0 0.00 18 6 25.00 PCDHGB4 0 genome.wustl.edu 37 5 140768512 140768512 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 140768512 140768512 T C SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1061 p.I354T 0.024 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 tier1 - - 43 0 0.00 42 17 28.81 PCDHGB4 0 genome.wustl.edu 37 5 140769142 140769142 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 140769142 140769142 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1691 p.A564V 0.997 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 tier1 - - 67 0 0.00 53 23 30.26 PCDHGC4 0 genome.wustl.edu 37 5 140864808 140864808 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 140864808 140864808 A G SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.68 p.H23R 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 tier1 - - 39 0 0.00 54 4 6.90 PDE3A 0 genome.wustl.edu 37 12 20792793 20792793 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 20792793 20792793 T G SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.2153 p.L718R 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 31 0 0.00 32 18 36.00 PDE4A 0 genome.wustl.edu 37 19 10572336 10572336 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 10572336 10572336 C T SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.1600 p.R534C 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 tier1 - - 51 0 0.00 23 19 45.24 PDE4B 0 genome.wustl.edu 37 1 66821268 66821268 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 66821268 66821268 A C SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known missense c.806 p.N269T 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 tier1 - - 67 0 0.00 39 19 32.76 PHF16 0 genome.wustl.edu 37 X 46887392 46887392 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 46887392 46887392 G T SNP PHF16 ENST00000218343 human ensembl 74_37 +1 known missense c.574 p.G192W 1.000 superfamily_Znf_FYVE_PHD pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 tier1 - - 38 0 0.00 63 4 5.97 PIP5KL1 0 genome.wustl.edu 37 9 130692076 130692076 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 130692076 130692076 C A SNP PIP5KL1 ENST00000388747 human ensembl 74_37 -1 novel missense c.119 p.R40L 0.334 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5KL1 HGNC ENSG00000167103 tier1 - - 28 0 0.00 12 7 36.84 PLA2G2E 0 genome.wustl.edu 37 1 20249236 20249236 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 20249236 20249236 G T SNP PLA2G2E ENST00000375116 human ensembl 74_37 -1 known missense c.53 p.T18N 0.000 NULL pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2E HGNC ENSG00000188784 tier1 - - 49 0 0.00 47 4 7.84 PLEKHH1 0 genome.wustl.edu 37 14 68045937 68045937 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 68045937 68045937 G A SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.2936 p.R979H 0.999 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 tier1 - - 73 0 0.00 59 4 6.35 PNPLA4 0 genome.wustl.edu 37 X 7870084 7870084 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 7870084 7870084 C T SNP PNPLA4 ENST00000381042 human ensembl 74_37 -1 known silent c.576 p.P192 0.009 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA4 HGNC ENSG00000006757 35 0 0.00 67 4 5.63 POLE 0 genome.wustl.edu 37 12 133250246 133250246 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 133250246 133250246 T A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.1274 p.K425M 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 53 0 0.00 48 17 26.15 POTEE 0 genome.wustl.edu 37 2 132021429 132021429 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 132021429 132021429 C A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.2401 p.H801N 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 127 0 0.00 126 16 11.27 PPP1R3C 0 genome.wustl.edu 37 10 93389701 93389701 + Silent SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 93389701 93389701 A G SNP PPP1R3C ENST00000238994 human ensembl 74_37 -1 known silent c.937 p.L313 0.997 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3C HGNC ENSG00000119938 tier1 - - 25 0 0.00 43 13 23.21 PRCP 0 genome.wustl.edu 37 11 82595914 82595914 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 82595914 82595914 C T SNP PRCP ENST00000393399 human ensembl 74_37 -1 known missense c.182 p.G61E 0.000 NULL pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 tier1 - - 19 0 0.00 24 8 25.00 PRDM5 0 genome.wustl.edu 37 4 121698357 121698357 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 121698357 121698357 A T SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.1523 p.I508N 1.000 smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 tier1 - - 58 0 0.00 40 4 9.09 PROSER2 0 genome.wustl.edu 37 10 11894050 11894050 + RNA SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 11894050 11894050 C T SNP PROSER2 ENST00000474155 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PROSER2 HGNC ENSG00000148426 tier1 - - 18 0 0.00 15 6 28.57 PRR15 0 genome.wustl.edu 37 7 29606312 29606312 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 29606312 29606312 G A SNP PRR15 ENST00000319694 human ensembl 74_37 +1 known missense c.367 p.D123N 0.364 NULL NULL - no_errors PRR15 HGNC ENSG00000176532 tier1 - - 72 0 0.00 78 14 15.22 PRSS58 0 genome.wustl.edu 37 7 141955419 141955419 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 141955419 141955419 A T SNP PRSS58 ENST00000547058 human ensembl 74_37 -1 known missense c.115 p.L39M 0.510 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS58 HGNC ENSG00000258223 58 0 0.00 71 4 5.33 PRTN3 0 genome.wustl.edu 37 19 843982 843982 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 843982 843982 T C SNP PRTN3 ENST00000234347 human ensembl 74_37 +1 known missense c.317 p.F106S 0.003 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRTN3 HGNC ENSG00000196415 tier1 - - 62 0 0.00 65 4 5.80 PSG6 0 genome.wustl.edu 37 19 43421932 43421932 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 43421932 43421932 A G SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.13 p.S5P 0.001 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 tier1 - - 114 0 0.00 115 35 23.18 PSMC6 0 genome.wustl.edu 37 14 53194361 53194361 + RNA SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 53194361 53194361 C T SNP PSMC6 ENST00000557557 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PSMC6 HGNC ENSG00000100519 tier1 - - 57 0 0.00 47 4 7.84 PTP4A2 0 genome.wustl.edu 37 1 32385113 32385113 + RNA SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 32385113 32385113 G T SNP PTP4A2 ENST00000494444 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 tier1 - - 22 0 0.00 24 4 14.29 PTPN12 0 genome.wustl.edu 37 7 77230012 77230012 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 77230012 77230012 T C SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known missense c.584 p.V195A 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 26 0 0.00 32 4 11.11 PTPN9 0 genome.wustl.edu 37 15 75798100 75798100 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 75798100 75798100 A G SNP PTPN9 ENST00000306726 human ensembl 74_37 -1 known missense c.884 p.V295A 0.990 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 tier1 - - 63 0 0.00 59 51 45.95 PWAR6 0 genome.wustl.edu 37 15 25277916 25277916 + RNA SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 25277916 25277916 T G SNP PWAR6 ENST00000552334 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PWAR6 HGNC ENSG00000257151 11 0 0.00 21 4 16.00 RAB40C 0 genome.wustl.edu 37 16 676076 676076 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 676076 676076 G A SNP RAB40C ENST00000248139 human ensembl 74_37 +1 known missense c.520 p.V174M 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 28 0 0.00 30 3 9.09 RALYL 0 genome.wustl.edu 37 8 85799845 85799845 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 85799845 85799845 A G SNP RALYL ENST00000521268 human ensembl 74_37 +1 known missense c.692 p.Q231R 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 tier1 - - 43 0 0.00 51 12 19.05 RAPGEF2 0 genome.wustl.edu 37 4 160265191 160265191 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 160265191 160265191 G A SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known silent c.2775 p.K925 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 tier1 - - 64 0 0.00 36 21 36.84 RASGEF1B 0 genome.wustl.edu 37 4 82368696 82368696 + Nonsense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 82368696 82368696 G A SNP RASGEF1B ENST00000264400 human ensembl 74_37 -1 known nonsense c.691 p.Q231* 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 56 0 0.00 49 4 7.55 RBMXL3 0 genome.wustl.edu 37 X 114425637 114425637 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 114425637 114425637 C T SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known missense c.1633 p.H545Y 0.844 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 tier1 - - 106 0 0.00 87 65 42.76 RDX 0 genome.wustl.edu 37 11 110106906 110106906 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 110106906 110106906 A C SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.1262 p.L421R 1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 tier1 - - 45 0 0.00 32 17 34.69 RELN 0 genome.wustl.edu 37 7 103191675 103191675 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 103191675 103191675 G T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.6141 p.F2047L 0.002 pfam_BNR_rpt,superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 38 0 0.00 36 3 7.69 REV3L 0 genome.wustl.edu 37 6 111696316 111696316 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 111696316 111696316 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.3242 p.S1081L 0.863 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 - - 38 0 0.00 15 10 40.00 RHPN2 0 genome.wustl.edu 37 19 33486951 33486951 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 33486951 33486951 G A SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known silent c.1401 p.I467 0.000 pfam_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 tier1 - - 84 0 0.00 56 26 31.71 RNF133 0 genome.wustl.edu 37 7 122338319 122338319 + Silent SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 122338319 122338319 A G SNP RNF133 ENST00000340112 human ensembl 74_37 -1 known silent c.654 p.I218 0.842 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 tier1 - - 56 0 0.00 20 38 65.52 RNF180 0 genome.wustl.edu 37 5 63621154 63621154 + Silent SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 63621154 63621154 T C SNP RNF180 ENST00000389100 human ensembl 74_37 +1 known silent c.1369 p.L457 0.998 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 tier1 - - 61 0 0.00 68 28 29.17 ROBO3 0 genome.wustl.edu 37 11 124735606 124735606 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 124735606 124735606 C T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known silent c.133 p.L45 0.999 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 23 0 0.00 25 3 10.71 ROBO4 0 genome.wustl.edu 37 11 124757376 124757376 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 124757376 124757376 C T SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known silent c.2076 p.L692 0.997 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 tier1 - - 52 0 0.00 35 17 32.69 RTL1 0 genome.wustl.edu 37 14 101348475 101348475 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 101348475 101348475 G A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.2651 p.T884M 0.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 30 0 0.00 23 19 45.24 RXFP2 0 genome.wustl.edu 37 13 32376475 32376475 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 32376475 32376475 C G SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.2198 p.S733C 0.998 NULL pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 58 0 0.00 44 24 35.29 RXFP3 0 genome.wustl.edu 37 5 33937201 33937201 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 33937201 33937201 T C SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.356 p.L119P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 tier1 - - 25 0 0.00 28 17 37.78 SALL1 0 genome.wustl.edu 37 16 51171156 51171156 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 51171156 51171156 T G SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.3842 p.N1281T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 58 0 0.00 39 20 33.33 SAMD9L 0 genome.wustl.edu 37 7 92763306 92763306 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 92763306 92763306 C T SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.1979 p.C660Y 1.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 26 0 0.00 38 12 23.08 SCML4 0 genome.wustl.edu 37 6 108066254 108066254 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 108066254 108066254 C T SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known missense c.494 p.R165Q 0.995 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 tier1 - - 21 0 0.00 22 16 42.11 SCN5A 0 genome.wustl.edu 37 3 38592230 38592230 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 38592230 38592230 T G SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5633 p.K1878T 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 67 0 0.00 40 28 41.18 SETBP1 0 genome.wustl.edu 37 18 42618465 42618465 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 18 42618465 42618465 A T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4016 p.H1339L 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 74 0 0.00 29 2 6.45 SF3A1 0 genome.wustl.edu 37 22 30736779 30736780 + In_Frame_Ins INS - - CTT TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 22 30736779 30736780 - CTT INS SF3A1 ENST00000215793 human ensembl 74_37 -1 known in_frame_ins c.1094_1093 p.365in_frame_insE 1.000:1.000 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 tier1 40 0 0.00 20 7 25.93 SGCZ 0 genome.wustl.edu 37 8 14095139 14095139 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 14095139 14095139 C A SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known missense c.386 p.R129I 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 tier1 - - 56 0 0.00 56 21 27.27 SH3GL1 0 genome.wustl.edu 37 19 4361666 4361666 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 4361666 4361666 G A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known silent c.1038 p.G346 0.964 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 tier1 - - 82 0 0.00 41 28 40.58 SH3TC2 0 genome.wustl.edu 37 5 148384459 148384459 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 148384459 148384459 G T SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.3682 p.H1228N 1.000 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 tier1 - - 42 0 0.00 51 4 7.14 SI 0 genome.wustl.edu 37 3 164710142 164710142 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 164710142 164710142 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4885 p.L1629V 0.727 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 148 0 0.00 162 39 19.40 SIDT1-AS1 0 genome.wustl.edu 37 3 113308848 113308848 + RNA SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 113308848 113308848 G A SNP SIDT1-AS1 ENST00000462180 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SIDT1-AS1 HGNC ENSG00000239453 tier1 - - 12 0 0.00 10 10 50.00 SLC25A23 0 genome.wustl.edu 37 19 6457545 6457545 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 6457545 6457545 A T SNP SLC25A23 ENST00000264088 human ensembl 74_37 -1 known missense c.340 p.S114T 0.684 pfscan_EF_hand_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A23 HGNC ENSG00000125648 32 0 0.00 40 4 9.09 SLC25A35 0 genome.wustl.edu 37 17 8193951 8193951 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 8193951 8193951 G T SNP SLC25A35 ENST00000577745 human ensembl 74_37 -1 known silent c.775 p.R259 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC ENSG00000125434 tier1 - - 55 0 0.00 57 4 6.56 SLC25A47 0 genome.wustl.edu 37 14 100793573 100793573 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 100793573 100793573 C A SNP SLC25A47 ENST00000361529 human ensembl 74_37 +1 known missense c.193 p.L65M 0.919 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A47 HGNC ENSG00000140107 tier1 - - 37 0 0.00 23 20 46.51 SLC35F4 0 genome.wustl.edu 37 14 58060677 58060677 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 58060677 58060677 A G SNP SLC35F4 ENST00000339762 human ensembl 74_37 -1 known missense c.377 p.V126A 0.326 NULL pfam_DMT,pfam_SLC35_F1/F2/F6 - no_errors SLC35F4 HGNC ENSG00000151812 tier1 - - 54 0 0.00 19 7 26.92 SLC46A3 0 genome.wustl.edu 37 13 29278217 29278217 + Silent SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 29278217 29278217 A G SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known silent c.1164 p.I388 0.970 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 tier1 - - 55 0 0.00 68 4 5.56 SLITRK5 0 genome.wustl.edu 37 13 88330472 88330472 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 88330472 88330472 G T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.2829 p.P943 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 39 0 0.00 49 3 5.77 SNRPN 0 genome.wustl.edu 37 15 25220656 25220656 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 25220656 25220656 A C SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.167 p.K56T 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 tier1 - - 64 0 0.00 105 28 21.05 SNRPN 0 genome.wustl.edu 37 15 25223574 25223574 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 25223574 25223574 C T SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.718 p.R240C 0.995 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 tier1 - - 41 0 0.00 60 18 23.08 SNX14 0 genome.wustl.edu 37 6 86224314 86224314 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 86224314 86224314 G A SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known missense c.2302 p.R768C 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 tier1 - - 34 0 0.00 8 5 38.46 SP8 0 genome.wustl.edu 37 7 20824392 20824392 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 20824392 20824392 G T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known silent c.1044 p.A348 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 tier1 - - 8 0 0.00 17 6 26.09 SPANXN1 0 genome.wustl.edu 37 X 144337273 144337273 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 144337273 144337273 C A SNP SPANXN1 ENST00000370493 human ensembl 74_37 +1 known missense c.158 p.A53E 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN1 HGNC ENSG00000203923 tier1 - - 67 0 0.00 49 27 35.53 SPATA31A6 0 genome.wustl.edu 37 9 43627999 43627999 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 43627999 43627999 G A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.688 p.R230W 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 8 0 0.00 1 15 93.75 SPATA31D3 0 genome.wustl.edu 37 9 84562504 84562504 + RNA SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 84562504 84562504 A G SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SPATA31D3 HGNC ENSG00000186788 tier1 - - 109 0 0.00 96 20 17.24 SPTLC2 0 genome.wustl.edu 37 14 77978710 77978710 + Nonsense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 14 77978710 77978710 G A SNP SPTLC2 ENST00000216484 human ensembl 74_37 -1 known nonsense c.1606 p.Q536* 1.000 superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC2 HGNC ENSG00000100596 68 0 0.00 52 4 7.14 SRBD1 0 genome.wustl.edu 37 2 45616543 45616543 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 45616543 45616543 A G SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known missense c.2894 p.L965P 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 tier1 - - 60 0 0.00 47 26 35.62 SRPK1 0 genome.wustl.edu 37 6 35838068 35838068 + Silent SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 35838068 35838068 T C SNP SRPK1 ENST00000373825 human ensembl 74_37 -1 known silent c.981 p.Q327 0.963 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK1 HGNC ENSG00000096063 tier1 - - 48 0 0.00 52 4 7.14 ST6GALNAC5 0 genome.wustl.edu 37 1 77334346 77334346 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 77334346 77334346 G A SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known silent c.180 p.A60 0.997 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 tier1 - - 31 0 0.00 16 12 42.86 ST8SIA2 0 genome.wustl.edu 37 15 92977596 92977596 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 92977596 92977596 T C SNP ST8SIA2 ENST00000268164 human ensembl 74_37 +1 known missense c.281 p.L94P 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 tier1 - - 56 0 0.00 72 19 20.88 STAG2 0 genome.wustl.edu 37 X 123215374 123215374 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 123215374 123215374 C T SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.2920 p.H974Y 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 tier1 - - 40 0 0.00 0 51 100.00 STAT2 0 genome.wustl.edu 37 12 56737822 56737822 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 56737822 56737822 T A SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known missense c.2200 p.S734C 0.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 tier1 - - 46 0 0.00 60 4 6.25 STEAP4 0 genome.wustl.edu 37 7 87913376 87913376 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 7 87913376 87913376 G A SNP STEAP4 ENST00000380079 human ensembl 74_37 -1 known missense c.209 p.A70V 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP4 HGNC ENSG00000127954 tier1 - - 42 0 0.00 30 21 41.18 STIM1 0 genome.wustl.edu 37 11 4091262 4091262 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 4091262 4091262 G A SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known missense c.620 p.R207H 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 100 0 0.00 72 4 5.26 SUMO3 0 genome.wustl.edu 37 21 46228430 46228430 + Frame_Shift_Del DEL A A - TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 21 46228430 46228430 A 0 DEL SUMO3 ENST00000397893 human ensembl 74_37 -1 putative frame_shift_del c.276 p.F92fs 0.008 NULL pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom - no_errors SUMO3 HGNC ENSG00000184900 19 0 0.00 5 3 37.50 SUV420H1 0 genome.wustl.edu 37 11 67939073 67939073 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 67939073 67939073 T A SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.757 p.M253L 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 tier1 - - 58 0 0.00 29 52 64.20 SYNDIG1 0 genome.wustl.edu 37 20 24523983 24523983 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 24523983 24523983 G A SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.250 p.E84K 0.994 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 tier1 - - 53 0 0.00 52 4 7.14 SYNE1 0 genome.wustl.edu 37 6 152668334 152668334 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 152668334 152668334 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11938 p.L3980V 0.966 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 46 0 0.00 19 12 38.71 TBC1D1 0 genome.wustl.edu 37 4 38134385 38134385 + RNA SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 38134385 38134385 G T SNP TBC1D1 ENST00000405444 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TBC1D1 HGNC ENSG00000065882 tier1 - - 69 0 0.00 36 66 64.08 TBL1XR1 0 genome.wustl.edu 37 3 176771694 176771694 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 176771694 176771694 G A SNP TBL1XR1 ENST00000430069 human ensembl 74_37 -1 known missense c.71 p.S24L 1.000 pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 tier1 - - 49 0 0.00 50 34 40.00 TCF23 0 genome.wustl.edu 37 2 27375630 27375630 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 27375630 27375630 C T SNP TCF23 ENST00000296096 human ensembl 74_37 +1 known silent c.540 p.T180 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF23 HGNC ENSG00000163792 tier1 - - 40 0 0.00 36 8 18.18 TEK 0 genome.wustl.edu 37 9 27197501 27197501 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 27197501 27197501 T G SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.1813 p.L605V 0.334 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 47 0 0.00 34 17 33.33 TEK 0 genome.wustl.edu 37 9 27229191 27229191 + Silent SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 27229191 27229191 T G SNP TEK ENST00000380036 human ensembl 74_37 +1 known silent c.3336 p.T1112 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 80 0 0.00 36 32 47.06 TENM1 0 genome.wustl.edu 37 X 123654589 123654589 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 123654589 123654589 T G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.3079 p.S1027R 0.985 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 29 0 0.00 36 23 38.33 TFB1M 0 genome.wustl.edu 37 6 155578990 155578990 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 155578990 155578990 C T SNP TFB1M ENST00000367166 human ensembl 74_37 -1 known missense c.1021 p.A341T 0.000 NULL pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 tier1 rs149125723 - 49 0 0.00 68 4 5.56 TG 0 genome.wustl.edu 37 8 133899062 133899062 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 133899062 133899062 A T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.1445 p.Q482L 0.163 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 86 0 0.00 75 38 33.63 TGM6 0 genome.wustl.edu 37 20 2375946 2375946 + Silent SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 2375946 2375946 T G SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known silent c.288 p.T96 0.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 tier1 - - 44 0 0.00 42 22 34.38 THOC2 0 genome.wustl.edu 37 X 122754756 122754756 + Splice_Site SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 122754756 122754756 A C SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known splice_site c.4275+2 e32+2 1.000 - - - no_errors THOC2 HGNC ENSG00000125676 tier1 - - 47 0 0.00 36 32 47.06 THSD1 0 genome.wustl.edu 37 13 52952185 52952185 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 52952185 52952185 G T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known silent c.1920 p.S640 0.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 tier1 - - 52 0 0.00 69 4 5.48 TMC4 0 genome.wustl.edu 37 19 54669205 54669205 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 54669205 54669205 C A SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.893 p.C298F 0.004 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 tier1 - - 69 0 0.00 50 22 30.56 TMCO6 0 genome.wustl.edu 37 5 140023719 140023719 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 140023719 140023719 C T SNP TMCO6 ENST00000252100 human ensembl 74_37 +1 known silent c.1158 p.S386 0.996 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 tier1 - - 68 0 0.00 72 4 5.26 TMEM14B 0 genome.wustl.edu 37 6 10756854 10756854 + RNA SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 10756854 10756854 C T SNP TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors TMEM14B HGNC ENSG00000137210 tier1 - - 22 0 0.00 17 6 26.09 TMEM255A 0 genome.wustl.edu 37 X 119438339 119438339 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 X 119438339 119438339 G T SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known missense c.66 p.F22L 1.000 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 tier1 - - 28 0 0.00 42 4 8.70 TMEM99 0 genome.wustl.edu 37 17 38991522 38991522 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 38991522 38991522 T C SNP TMEM99 ENST00000301665 human ensembl 74_37 +1 known missense c.754 p.F252L 0.000 NULL NULL - no_errors TMEM99 HGNC ENSG00000167920 tier1 - - 43 0 0.00 19 21 52.50 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 7577094 7577094 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282W 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934574 - 38 0 0.00 4 16 80.00 TPP1 0 genome.wustl.edu 37 11 6640117 6640117 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 11 6640117 6640117 C T SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known missense c.119 p.R40H 1.000 pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 34 0 0.00 30 3 9.09 TPP2 0 genome.wustl.edu 37 13 103279451 103279451 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 13 103279451 103279451 C G SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.874 p.L292V 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 tier1 - - 41 0 0.00 33 20 37.74 TRDN 0 genome.wustl.edu 37 6 123653049 123653049 + Silent SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 123653049 123653049 T C SNP TRDN ENST00000398178 human ensembl 74_37 -1 known silent c.1446 p.K482 0.014 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 - - 48 0 0.00 21 19 47.50 TREM2 0 genome.wustl.edu 37 6 41126735 41126735 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 6 41126735 41126735 G A SNP TREM2 ENST00000373122 human ensembl 74_37 -1 known missense c.592 p.H198Y 0.119 NULL pfam_Ig_V-set - no_errors TREM2 HGNC ENSG00000095970 tier1 - - 57 0 0.00 31 16 34.04 TRHDE 0 genome.wustl.edu 37 12 72956759 72956759 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 72956759 72956759 C G SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.1846 p.Q616E 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 74 0 0.00 57 26 31.33 TRIML1 0 genome.wustl.edu 37 4 189068495 189068495 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 4 189068495 189068495 T A SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.1376 p.L459H 0.330 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 21 0 0.00 26 2 7.14 TRPM1 0 genome.wustl.edu 37 15 31360147 31360147 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 31360147 31360147 C A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.479 p.G160V 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 50 0 0.00 90 19 17.43 TSC1 0 genome.wustl.edu 37 9 135772673 135772673 + Missense_Mutation SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 9 135772673 135772673 A G SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.2873 p.F958S 1.000 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 - - 47 0 0.00 76 4 5.00 TSHZ3 0 genome.wustl.edu 37 19 31769655 31769655 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 31769655 31769655 G T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.1044 p.T348 0.012 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 41 0 0.00 8 19 70.37 TTC23 0 genome.wustl.edu 37 15 99761973 99761973 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 99761973 99761973 G T SNP TTC23 ENST00000262074 human ensembl 74_37 -1 known missense c.277 p.L93M 0.979 smart_TPR_repeat smart_TPR_repeat - no_errors TTC23 HGNC ENSG00000103852 tier1 - - 47 0 0.00 87 5 5.43 TTC28 0 genome.wustl.edu 37 22 28379631 28379631 + Silent SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 22 28379631 28379631 G T SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel silent c.6024 p.P2008 0.024 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 43 0 0.00 31 4 11.43 TTN 0 genome.wustl.edu 37 2 179455377 179455377 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 179455377 179455377 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.53371 p.S17791R 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 40 0 0.00 24 17 41.46 TUBB1 0 genome.wustl.edu 37 20 57599434 57599434 + Silent SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 57599434 57599434 C A SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known silent c.952 p.R318 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 52 0 0.00 74 4 5.13 TVP23A 0 genome.wustl.edu 37 16 10865591 10865591 + Missense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 10865591 10865591 A T SNP TVP23A ENST00000299866 human ensembl 74_37 -1 known missense c.518 p.M173K 0.999 NULL pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 71 0 0.00 76 4 5.00 UBE3B 0 genome.wustl.edu 37 12 109924360 109924360 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 109924360 109924360 G T SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.427 p.D143Y 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 28 0 0.00 30 2 6.25 UBTF 0 genome.wustl.edu 37 17 42289815 42289815 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 17 42289815 42289815 G A SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.668 p.T223M 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 tier1 - - 34 0 0.00 37 23 38.33 UCMA 0 genome.wustl.edu 37 10 13264168 13264168 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 13264168 13264168 G T SNP UCMA ENST00000378681 human ensembl 74_37 -1 known missense c.352 p.Q118K 1.000 NULL NULL - no_errors UCMA HGNC ENSG00000165623 30 0 0.00 57 3 5.00 UNC13C 0 genome.wustl.edu 37 15 54307240 54307240 + Missense_Mutation SNP T T G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 15 54307240 54307240 T G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2140 p.L714V 0.985 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 - - 15 0 0.00 15 6 28.57 UPK3A 0 genome.wustl.edu 37 22 45691457 45691457 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 22 45691457 45691457 G T SNP UPK3A ENST00000216211 human ensembl 74_37 +1 known missense c.721 p.D241Y 0.117 NULL NULL - no_errors UPK3A HGNC ENSG00000100373 tier1 - - 95 0 0.00 65 4 5.80 UQCRC2 0 genome.wustl.edu 37 16 21983276 21983276 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 21983276 21983276 G T SNP UQCRC2 ENST00000268379 human ensembl 74_37 +1 known missense c.799 p.V267F 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC2 HGNC ENSG00000140740 tier1 - - 53 0 0.00 60 4 6.25 USH2A 0 genome.wustl.edu 37 1 216011345 216011345 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 216011345 216011345 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.9359 p.G3120D 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 28 0 0.00 36 2 5.26 VCL 0 genome.wustl.edu 37 10 75873970 75873970 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 75873970 75873970 G A SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.2978 p.R993H 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 tier1 - - 23 0 0.00 32 8 20.00 VWA3B 0 genome.wustl.edu 37 2 98844703 98844703 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 2 98844703 98844703 G T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.2058 p.Q686H 0.996 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 40 0 0.00 50 3 5.66 WDFY4 0 genome.wustl.edu 37 10 50029113 50029113 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 10 50029113 50029113 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.5716 p.P1906S 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 53 0 0.00 51 15 22.73 WDR49 0 genome.wustl.edu 37 3 167339318 167339318 + Silent SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 167339318 167339318 A G SNP WDR49 ENST00000479765 human ensembl 74_37 -1 putative silent c.720 p.D240 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_EF_hand_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 46 0 0.00 51 13 20.31 WDR87 0 genome.wustl.edu 37 19 38380066 38380066 + Missense_Mutation SNP T T A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 38380066 38380066 T A SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.4245 p.L1415F 0.399 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 38 0 0.00 33 10 23.26 WFDC10A 0 genome.wustl.edu 37 20 44258464 44258464 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 44258464 44258464 G A SNP WFDC10A ENST00000372643 human ensembl 74_37 +1 known silent c.12 p.Q4 0.042 NULL pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core - no_errors WFDC10A HGNC ENSG00000180305 tier1 - - 39 0 0.00 57 22 27.85 WWOX 0 genome.wustl.edu 37 16 78466480 78466480 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 16 78466480 78466480 C G SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.887 p.S296C 1.000 NULL pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 tier1 - - 38 0 0.00 34 10 22.73 YAF2 0 genome.wustl.edu 37 12 42604244 42604244 + Silent SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 12 42604244 42604244 G A SNP YAF2 ENST00000552928 human ensembl 74_37 -1 known silent c.339 p.C113 0.101 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC ENSG00000015153 tier1 - - 59 0 0.00 59 4 6.35 ZFYVE20 0 genome.wustl.edu 37 3 15124116 15124116 + Splice_Site SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 3 15124116 15124116 C A SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known splice_site c.599-1 e6-1 1.000 - - - no_errors ZFYVE20 HGNC ENSG00000131381 42 0 0.00 50 3 5.66 ZHX3 0 genome.wustl.edu 37 20 39830877 39830877 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 20 39830877 39830877 C T SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.2680 p.V894M 0.724 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 tier1 - - 59 0 0.00 51 19 27.14 ZNF428 0 genome.wustl.edu 37 19 44111802 44111802 + Silent SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 44111802 44111802 C T SNP ZNF428 ENST00000300811 human ensembl 74_37 -1 known silent c.534 p.G178 0.913 pfscan_Znf_C2H2 pfscan_Znf_C2H2 - no_errors ZNF428 HGNC ENSG00000131116 tier1 - - 50 0 0.00 49 5 9.26 ZNF454 0 genome.wustl.edu 37 5 178392970 178392970 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 5 178392970 178392970 A C SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.1565 p.K522T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 tier1 - - 25 0 0.00 35 17 32.69 ZNF568 0 genome.wustl.edu 37 19 37488332 37488332 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 37488332 37488332 G A SNP ZNF568 ENST00000455427 human ensembl 74_37 +1 known missense c.1547 p.R516Q 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 tier1 - - 47 0 0.00 39 13 25.00 ZNF570 0 genome.wustl.edu 37 19 37975537 37975537 + Missense_Mutation SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 37975537 37975537 C A SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.1013 p.A338E 0.028 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 ZNF570 HGNC ENSG00000171827 tier1 - - 48 0 0.00 60 4 6.25 ZNF572 0 genome.wustl.edu 37 8 125989785 125989785 + Silent SNP C C A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 8 125989785 125989785 C A SNP ZNF572 ENST00000319286 human ensembl 74_37 +1 known silent c.1275 p.S425 0.822 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 tier1 - - 28 0 0.00 30 8 21.05 ZNF583 0 genome.wustl.edu 37 19 56935519 56935519 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 56935519 56935519 G T SNP ZNF583 ENST00000291598 human ensembl 74_37 +1 known missense c.1492 p.G498W 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 49 0 0.00 63 4 5.97 ZNF585B 0 genome.wustl.edu 37 19 37676130 37676130 + Nonstop_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 37676130 37676130 C G SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known nonstop c.2309 p.*770S 0.984 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 ZNF585B HGNC ENSG00000245680 tier1 - - 48 0 0.00 33 16 32.65 ZNF667 0 genome.wustl.edu 37 19 56972109 56972109 + Missense_Mutation SNP C C G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 56972109 56972109 C G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.388 p.D130H 0.233 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 tier1 - - 88 0 0.00 63 27 30.00 ZNF678 0 genome.wustl.edu 37 1 227843248 227843248 + Missense_Mutation SNP T T C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 1 227843248 227843248 T C SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.1462 p.Y488H 0.376 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 ZNF678 HGNC ENSG00000181450 tier1 - - 30 0 0.00 53 4 7.02 ZNF880 0 genome.wustl.edu 37 19 52877731 52877731 + Nonsense_Mutation SNP A A T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4c92b60-4b59-483f-8deb-9dcf8b98b980 c2aa2b87-814c-46f7-9f91-d29955e0a5a2 19 52877731 52877731 A T SNP ZNF880 ENST00000597976 human ensembl 74_37 +1 putative nonsense c.319 p.K107* 0.031 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 tier1 - - 40 0 0.00 39 8 17.02