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 A2M 0 genome.wustl.edu 37 12 9229971 9229971 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 9229971 9229971 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.3322 p.A1108T 0.996 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 tier1 - - 40 0 0.00 26 17 39.53 ABCA5 0 genome.wustl.edu 37 17 67300826 67300827 + Frame_Shift_Ins INS - - G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 67300826 67300827 - G INS ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_ins c.914_913 p.L305fs 0.997:1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 tier1 85 0 0.00 41 7 14.58 ABCB11 0 genome.wustl.edu 37 2 169869892 169869892 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 169869892 169869892 G T SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known nonsense c.279 p.Y93* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 tier1 - - 37 0 0.00 17 9 34.62 ACTA1 0 genome.wustl.edu 37 1 229568159 229568159 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 229568159 229568159 G A SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known silent c.474 p.G158 0.707 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 57 0 0.00 60 4 6.25 ADAMTS3 0 genome.wustl.edu 37 4 73414399 73414399 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 73414399 73414399 T G SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.300 p.Q100H 0.658 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 tier1 - - 83 0 0.00 29 25 46.30 ADCY4 0 genome.wustl.edu 37 14 24802185 24802185 + Missense_Mutation SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 24802185 24802185 A G SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known missense c.169 p.S57P 0.836 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 tier1 - - 48 0 0.00 48 4 7.69 AHCY 0 genome.wustl.edu 37 20 32868859 32868859 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 20 32868859 32868859 G A SNP AHCY ENST00000217426 human ensembl 74_37 -1 known missense c.1280 p.P427L 1.000 pfam_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 AHCY HGNC ENSG00000101444 tier1 - - 31 0 0.00 57 12 17.39 AIM2 0 genome.wustl.edu 37 1 159036018 159036018 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 159036018 159036018 C T SNP AIM2 ENST00000368130 human ensembl 74_37 -1 known silent c.498 p.T166 0.001 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 tier1 - - 41 0 0.00 24 10 29.41 AKT2 0 genome.wustl.edu 37 19 40746174 40746174 + RNA SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 40746174 40746174 G A SNP AKT2 ENST00000391845 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AKT2 HGNC ENSG00000105221 tier1 - - 30 0 0.00 56 4 6.67 ALG6 0 genome.wustl.edu 37 1 63867955 63867955 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 63867955 63867955 G A SNP ALG6 ENST00000371108 human ensembl 74_37 +1 known silent c.198 p.Q66 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 tier1 - - 71 0 0.00 39 13 25.00 ANK2 0 genome.wustl.edu 37 4 114262870 114262870 + Missense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 114262870 114262870 T A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.3920 p.I1307N 0.978 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 62 0 0.00 53 4 7.02 ANKRD20A4 0 genome.wustl.edu 37 9 69423721 69423721 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 69423721 69423721 G A SNP ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known missense c.2017 p.A673T 0.763 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 tier1 rs201112034 - 22 0 0.00 12 6 33.33 ANKRD50 0 genome.wustl.edu 37 4 125591791 125591791 + Nonsense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 125591791 125591791 G A SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known nonsense c.2641 p.R881* 0.901 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 tier1 - - 49 0 0.00 16 6 27.27 AOX2P 0 genome.wustl.edu 37 2 201635343 201635343 + RNA SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 201635343 201635343 C T SNP AOX2P ENST00000467645 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AOX2P HGNC ENSG00000243478 tier1 - - 54 0 0.00 13 29 69.05 APOB 0 genome.wustl.edu 37 2 21235441 21235441 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 21235441 21235441 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.4299 p.S1433 0.602 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 52 0 0.00 34 22 39.29 AQP8 0 genome.wustl.edu 37 16 25228712 25228712 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 16 25228712 25228712 C T SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.206 p.A69V 1.000 pfam_MIP,superfamily_Aquaporin-like pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 tier1 - - 63 0 0.00 56 4 6.67 ARF5 0 genome.wustl.edu 37 7 127231308 127231308 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 127231308 127231308 G A SNP ARF5 ENST00000000233 human ensembl 74_37 +1 known silent c.498 p.L166 0.984 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF5 HGNC ENSG00000004059 tier1 - - 50 0 0.00 31 4 11.11 ARHGAP30 0 genome.wustl.edu 37 1 161022480 161022480 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 161022480 161022480 G T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.772 p.Q258K 0.999 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 tier1 - - 62 0 0.00 38 4 9.52 ARMCX2 0 genome.wustl.edu 37 X 100911645 100911645 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 X 100911645 100911645 G T SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known silent c.930 p.G310 0.998 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 tier1 - - 68 0 0.00 10 26 72.22 ARRB1 0 genome.wustl.edu 37 11 74977319 74977319 + Splice_Site SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 74977319 74977319 C T SNP ARRB1 ENST00000393505 human ensembl 74_37 -1 known splice_site c.1146-1 e16-1 0.981 - - - no_errors ARRB1 HGNC ENSG00000137486 tier1 - - 37 0 0.00 19 16 45.71 ARRB1 0 genome.wustl.edu 37 11 74994330 74994330 + Splice_Site SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 74994330 74994330 C T SNP ARRB1 ENST00000393505 human ensembl 74_37 -1 known splice_site c.354+1 e5+1 1.000 - - - no_errors ARRB1 HGNC ENSG00000137486 tier1 - - 29 0 0.00 23 10 30.30 ASXL2 0 genome.wustl.edu 37 2 25994382 25994382 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 25994382 25994382 C A SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.431 p.C144F 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 tier1 - - 63 0 0.00 84 16 16.00 ATP8A2 0 genome.wustl.edu 37 13 26594034 26594034 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 26594034 26594034 G A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.3478 p.A1160T 0.998 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 tier1 - - 41 0 0.00 41 4 8.89 ATP8B1 0 genome.wustl.edu 37 18 55359150 55359150 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 55359150 55359150 G T SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.1109 p.S370Y 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 46 0 0.00 32 2 5.88 ATRN 0 genome.wustl.edu 37 20 3541331 3541331 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 20 3541331 3541331 G T SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.1226 p.G409V 1.000 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 tier1 - - 55 0 0.00 51 4 7.27 B4GALNT1 0 genome.wustl.edu 37 12 58025827 58025827 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 58025827 58025827 G A SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known missense c.89 p.A30V 0.003 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 51 0 0.00 48 12 19.67 BACH1 0 genome.wustl.edu 37 21 30698924 30698924 + Frame_Shift_Del DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 21 30698924 30698924 A - DEL BACH1 ENST00000286800 human ensembl 74_37 +1 known frame_shift_del c.779 p.N261fs 0.056 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 tier1 33 0 0.00 18 2 10.00 BAI3 0 genome.wustl.edu 37 6 69684705 69684705 + Silent SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 69684705 69684705 A C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.1576 p.R526 1.000 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom 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 - - 60 0 0.00 7 7 50.00 BANK1 0 genome.wustl.edu 37 4 102751177 102751177 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 102751177 102751177 C T SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known missense c.283 p.P95S 0.448 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 tier1 - - 39 0 0.00 15 15 50.00 BAZ2B 0 genome.wustl.edu 37 2 160205671 160205671 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 160205671 160205671 C T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.4984 p.E1662K 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 23 0 0.00 15 8 34.78 BMPR2 0 genome.wustl.edu 37 2 203383581 203383581 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 203383581 203383581 G A SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.658 p.G220S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 tier1 - - 65 0 0.00 26 9 25.71 BRINP1 0 genome.wustl.edu 37 9 121930116 121930116 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 121930116 121930116 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1532 p.R511H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 51 0 0.00 41 8 16.33 C14orf23 0 genome.wustl.edu 37 14 29261230 29261230 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 29261230 29261230 A C SNP C14orf23 ENST00000399387 human ensembl 74_37 +1 known missense c.267 p.E89D 0.021 NULL NULL - no_errors C14orf23 HGNC ENSG00000186960 tier1 - - 70 0 0.00 26 8 23.53 C15orf60 0 genome.wustl.edu 37 15 73843477 73843477 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 15 73843477 73843477 C T SNP C15orf60 ENST00000331090 human ensembl 74_37 +1 known missense c.532 p.P178S 0.000 NULL NULL - no_errors C15orf60 HGNC ENSG00000183324 tier1 - - 23 0 0.00 15 3 16.67 C19orf57 0 genome.wustl.edu 37 19 14000750 14000750 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 14000750 14000750 C T SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known missense c.919 p.G307S 0.005 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 tier1 - - 54 0 0.00 41 13 24.07 C20orf26 0 genome.wustl.edu 37 20 20180504 20180504 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 20 20180504 20180504 G T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.1890 p.K630N 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 - - 34 0 0.00 19 23 54.76 C5orf42 0 genome.wustl.edu 37 5 37206493 37206493 + Silent SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 37206493 37206493 A G SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known silent c.2955 p.S985 0.901 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 53 0 0.00 61 11 15.28 CACNA2D4 0 genome.wustl.edu 37 12 1993483 1993483 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 1993483 1993483 C T SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.1277 p.R426Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 tier1 - - 38 0 0.00 29 16 35.56 CAMTA1 0 genome.wustl.edu 37 1 7700578 7700578 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 7700578 7700578 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.629 p.T210M 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 46 0 0.00 26 12 31.58 CAMTA1 0 genome.wustl.edu 37 1 7700576 7700576 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 7700576 7700576 G T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.627 p.W209C 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 45 0 0.00 37 2 5.13 CASQ2 0 genome.wustl.edu 37 1 116283355 116283355 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 116283355 116283355 G T SNP CASQ2 ENST00000261448 human ensembl 74_37 -1 known silent c.414 p.L138 0.935 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ2 HGNC ENSG00000118729 tier1 - - 49 0 0.00 43 4 8.51 CCDC114 0 genome.wustl.edu 37 19 48821779 48821779 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 48821779 48821779 G A SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known silent c.114 p.S38 0.000 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 tier1 - - 46 0 0.00 57 14 19.72 CCDC127 0 genome.wustl.edu 37 5 216926 216926 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 216926 216926 C T SNP CCDC127 ENST00000296824 human ensembl 74_37 -1 known silent c.39 p.R13 0.978 NULL NULL - no_errors CCDC127 HGNC ENSG00000164366 tier1 - - 49 0 0.00 26 8 23.53 CCDC135 0 genome.wustl.edu 37 16 57741507 57741507 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 16 57741507 57741507 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.994 p.D332N 0.156 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 33 0 0.00 29 2 6.45 CCDC175 0 genome.wustl.edu 37 14 59992099 59992100 + Frame_Shift_Ins INS - - T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 59992099 59992100 - T INS CCDC175 ENST00000281581 human ensembl 74_37 -1 known frame_shift_ins c.1896_1895 p.N632fs 0.000:0.000 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 75 0 0.00 40 13 24.53 CCSER1 0 genome.wustl.edu 37 4 92520052 92520052 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 92520052 92520052 A C SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.2547 p.Q849H 0.000 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 47 0 0.00 15 12 44.44 CDH9 0 genome.wustl.edu 37 5 26881552 26881552 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 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 - - 52 0 0.00 54 21 28.00 CENPK 0 genome.wustl.edu 37 5 64814371 64814371 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 64814371 64814371 C T SNP CENPK ENST00000242872 human ensembl 74_37 -1 known silent c.741 p.L247 0.998 pfam_Centromere_CenpK pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC ENSG00000123219 tier1 - - 50 0 0.00 30 4 11.76 CES1 0 genome.wustl.edu 37 16 55855374 55855374 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 16 55855374 55855374 C A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.599 p.R200L 0.938 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 - - 59 0 0.00 55 4 6.78 CFHR3 0 genome.wustl.edu 37 1 196757398 196757398 + Silent SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 196757398 196757398 T A SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known silent c.483 p.S161 0.003 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 tier1 - - 102 0 0.00 62 13 17.33 CFHR5 0 genome.wustl.edu 37 1 196953134 196953134 + Silent SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 196953134 196953134 T C SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known silent c.369 p.S123 0.037 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 50 0 0.00 64 4 5.88 CHD9 0 genome.wustl.edu 37 16 53340292 53340292 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 16 53340292 53340292 G T SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.6763 p.A2255S 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 64 0 0.00 49 4 7.55 CHRD 0 genome.wustl.edu 37 3 184104327 184104327 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 184104327 184104327 G A SNP CHRD ENST00000204604 human ensembl 74_37 +1 known silent c.1980 p.A660 0.000 pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 tier1 - - 12 0 0.00 4 6 60.00 CHRNB1 0 genome.wustl.edu 37 17 7348709 7348709 + Frame_Shift_Del DEL T T - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 7348709 7348709 T - DEL CHRNB1 ENST00000306071 human ensembl 74_37 +1 known frame_shift_del c.179 p.L60fs 0.984 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 tier1 17 0 0.00 4 2 33.33 CHST9 0 genome.wustl.edu 37 18 24496706 24496706 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 24496706 24496706 C T SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known missense c.849 p.M283I 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 tier1 - - 48 0 0.00 36 10 21.74 CLDN17 0 genome.wustl.edu 37 21 31538467 31538467 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 21 31538467 31538467 G T SNP CLDN17 ENST00000286808 human ensembl 74_37 -1 known missense c.469 p.Q157K 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 tier1 - - 30 0 0.00 17 8 32.00 CLEC16A 0 genome.wustl.edu 37 16 11214478 11214478 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 16 11214478 11214478 G T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2123 p.S708I 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 tier1 - - 72 0 0.00 73 4 5.19 CLK3 0 genome.wustl.edu 37 15 74912501 74912501 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 15 74912501 74912501 C T SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known missense c.748 p.R250W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 tier1 - - 29 0 0.00 7 18 72.00 CNTROB 0 genome.wustl.edu 37 17 7851960 7851960 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 7851960 7851960 G A SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known missense c.2536 p.E846K 0.000 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 tier1 - - 46 0 0.00 39 11 22.00 COL12A1 0 genome.wustl.edu 37 6 75825618 75825618 + Missense_Mutation SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 75825618 75825618 A G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.7579 p.Y2527H 0.997 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 39 0 0.00 22 10 31.25 CPNE4 0 genome.wustl.edu 37 3 131268922 131268922 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 131268922 131268922 T G SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.1225 p.I409L 1.000 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 tier1 - - 35 0 0.00 4 22 84.62 CREBRF 0 genome.wustl.edu 37 5 172537685 172537685 + Silent SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 172537685 172537685 A G SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known silent c.1584 p.S528 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 tier1 - - 39 0 0.00 29 4 12.12 CRISPLD1 0 genome.wustl.edu 37 8 75924743 75924743 + Missense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 8 75924743 75924743 T A SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.334 p.L112M 0.629 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 40 0 0.00 59 10 14.49 CROCCP2 0 genome.wustl.edu 37 1 16945227 16945227 + RNA SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 16945227 16945227 G T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CROCCP2 HGNC ENSG00000215908 25 0 0.00 15 4 21.05 CROCCP2 0 genome.wustl.edu 37 1 16946112 16946112 + RNA SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 16946112 16946112 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 8 0 0.00 7 4 36.36 CSN1S1 0 genome.wustl.edu 37 4 70799939 70799939 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 70799939 70799939 C A SNP CSN1S1 ENST00000246891 human ensembl 74_37 +1 known missense c.61 p.L21I 0.000 NULL NULL - no_errors CSN1S1 HGNC ENSG00000126545 43 0 0.00 19 2 9.52 CSPP1 0 genome.wustl.edu 37 8 68044184 68044184 + Splice_Site SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 8 68044184 68044184 A G SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known splice_site c.1683-2 e14-2 0.997 - - - no_errors CSPP1 HGNC ENSG00000104218 tier1 - - 82 0 0.00 62 32 34.04 CTTNBP2NL 0 genome.wustl.edu 37 1 112958899 112958899 + RNA DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 112958899 112958899 A - DEL CTTNBP2NL ENST00000502356 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTTNBP2NL HGNC ENSG00000143079 tier1 42 0 0.00 18 7 28.00 CWC22 0 genome.wustl.edu 37 2 180809975 180809975 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 180809975 180809975 T C SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.2608 p.R870G 0.008 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 tier1 - - 68 0 0.00 18 24 57.14 CYFIP2 0 genome.wustl.edu 37 5 156734794 156734794 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 156734794 156734794 T C SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.821 p.M274T 1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 76 0 0.00 42 4 8.70 DARC 0 genome.wustl.edu 37 1 159176175 159176175 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 159176175 159176175 T G SNP DARC ENST00000368121 human ensembl 74_37 +1 known missense c.952 p.L318V 0.000 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 tier1 - - 74 0 0.00 28 8 22.22 DFFA 0 genome.wustl.edu 37 1 10523661 10523661 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 10523661 10523661 G T SNP DFFA ENST00000377038 human ensembl 74_37 -1 known missense c.458 p.P153H 0.672 pfam_DNA_fragmentation_mid_dom,pirsf_DNA_fragmentation_factor_asu pfam_DNA_fragmentation_mid_dom,pfam_CIDE-N_dom,smart_CIDE-N_dom,pirsf_DNA_fragmentation_factor_asu,pfscan_CIDE-N_dom - no_errors DFFA HGNC ENSG00000160049 tier1 - - 39 0 0.00 49 4 7.55 DGKH 0 genome.wustl.edu 37 13 42764662 42764662 + Splice_Site SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 42764662 42764662 G T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known splice_site c.2035+1 e16+1 1.000 - - - no_errors DGKH HGNC ENSG00000102780 tier1 - - 63 0 0.00 53 4 7.02 DGKH 0 genome.wustl.edu 37 13 42780261 42780261 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 42780261 42780261 G T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.2580 p.W860C 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 tier1 - - 80 0 0.00 73 4 5.19 DHCR7 0 genome.wustl.edu 37 11 71155200 71155200 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 71155200 71155200 C T SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known missense c.160 p.V54I 1.000 NULL pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 36 0 0.00 46 3 6.12 DHX34 0 genome.wustl.edu 37 19 47861291 47861291 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 47861291 47861291 G T SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known nonsense c.1186 p.E396* 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 46 0 0.00 54 3 5.26 DIP2C 0 genome.wustl.edu 37 10 355976 355976 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 355976 355976 G A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known silent c.3981 p.H1327 0.617 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 44 0 0.00 29 2 6.45 DMD 0 genome.wustl.edu 37 X 31152222 31152222 + Silent SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 X 31152222 31152222 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.11011 p.R3671 0.956 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 18 0 0.00 3 16 80.00 DOCK2 0 genome.wustl.edu 37 5 169097602 169097602 + Splice_Site SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 169097602 169097602 G T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known splice_site c.224+1 e4+1 1.000 - - - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 54 0 0.00 27 3 10.00 DOCK2 0 genome.wustl.edu 37 5 169506071 169506071 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 169506071 169506071 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5087 p.R1696Q 0.999 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 - - 46 0 0.00 32 9 21.95 DOPEY1 0 genome.wustl.edu 37 6 83878105 83878105 + RNA SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 83878105 83878105 A T SNP DOPEY1 ENST00000484282 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors DOPEY1 HGNC ENSG00000083097 tier1 - - 40 0 0.00 26 4 13.33 DPP4 0 genome.wustl.edu 37 2 162881326 162881326 + Nonsense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 162881326 162881326 C T SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known nonsense c.1011 p.W337* 0.994 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 47 0 0.00 36 2 5.26 DSCAML1 0 genome.wustl.edu 37 11 117321308 117321308 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 117321308 117321308 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.3845 p.R1282H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 80 0 0.00 46 4 8.00 DUSP13 0 genome.wustl.edu 37 10 76854632 76854632 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 76854632 76854632 G T SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known silent c.786 p.R262 0.325 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 16 0 0.00 15 2 11.76 ECM2 0 genome.wustl.edu 37 9 95263199 95263199 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 95263199 95263199 G T SNP ECM2 ENST00000344604 human ensembl 74_37 -1 known missense c.1741 p.P581T 1.000 NULL pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 48 0 0.00 48 4 7.69 EDEM3 0 genome.wustl.edu 37 1 184681718 184681721 + Frame_Shift_Del DEL AAGA AAGA - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 184681718 184681721 AAGA - DEL EDEM3 ENST00000318130 human ensembl 74_37 -1 known frame_shift_del c.1385_1382 p.F461fs 1.000:1.000:1.000:1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 tier1 98 0 0.00 55 14 20.29 EFR3B 0 genome.wustl.edu 37 2 25344633 25344633 + Missense_Mutation SNP C C G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 25344633 25344633 C G SNP EFR3B ENST00000403714 human ensembl 74_37 +1 known missense c.455 p.S152W 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 48 0 0.00 44 3 6.38 EIF3A 0 genome.wustl.edu 37 10 120817707 120817707 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 120817707 120817707 C T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.1738 p.E580K 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 tier1 - - 49 0 0.00 31 23 42.59 EIF5B 0 genome.wustl.edu 37 2 99978108 99978108 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 99978108 99978108 G T SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.744 p.A248 0.976 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 36 0 0.00 37 2 5.13 ELMSAN1 0 genome.wustl.edu 37 14 74205351 74205351 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 74205351 74205351 G A SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.1361 p.T454M 0.997 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 - - 18 0 0.00 10 9 47.37 ENC1 0 genome.wustl.edu 37 5 73930815 73930815 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 73930815 73930815 C T SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known missense c.1496 p.G499D 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 tier1 - - 31 0 0.00 8 3 27.27 ENSG00000217825 0 genome.wustl.edu 37 7 154988635 154988635 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 154988635 154988635 G T SNP ENSG00000217825 ENST00000404289 human ensembl 74_37 -1 putative missense c.208 p.L70I 0.643 NULL NULL - no_errors AC099552.4 Clone_based_vega_gene ENSG00000217825 tier1 - - 42 0 0.00 33 4 10.81 ENSG00000265263 0 genome.wustl.edu 37 17 19238487 19238488 + RNA INS - - A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 19238487 19238488 - A INS ENSG00000265263 ENST00000581122 human ensembl 74_37 -1 known rna NULL NULL 0.043:0.039 - - - no_errors RP11-135L13.4 Clone_based_vega_gene ENSG00000265263 tier1 80 0 0.00 38 5 11.63 ENSG00000266535 0 genome.wustl.edu 37 17 31439098 31439099 + RNA DEL AG AG - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 31439098 31439099 AG - DEL ENSG00000266535 ENST00000584688 human ensembl 74_37 +1 known rna NULL NULL 0.563:0.970 - - - no_errors RP11-40A13.1 Clone_based_vega_gene ENSG00000266535 tier1 24 0 0.00 21 4 16.00 ENSG00000267848 0 genome.wustl.edu 37 20 62585043 62585044 + Frame_Shift_Ins INS - - A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 20 62585043 62585044 - A INS ENSG00000267848 ENST00000595604 human ensembl 74_37 +1 known frame_shift_ins c.37_38 p.K17fs 0.023:0.024 NULL NULL - no_errors AL118506.1 Clone_based_ensembl_gene ENSG00000267848 tier1 17 0 0.00 28 3 9.68 ENSG00000267848 0 genome.wustl.edu 37 20 62585044 62585044 + Frame_Shift_Del DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 20 62585044 62585044 A - DEL ENSG00000267848 ENST00000595604 human ensembl 74_37 +1 known frame_shift_del c.38 p.K16fs 0.024 NULL NULL - no_errors AL118506.1 Clone_based_ensembl_gene ENSG00000267848 tier1 17 0 0.00 28 2 6.67 ENSG00000269175 0 genome.wustl.edu 37 1 101456192 101456193 + Frame_Shift_Ins INS - - A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 101456192 101456193 - A INS ENSG00000269175 ENST00000593496 human ensembl 74_37 +1 known frame_shift_ins c.186_187 p.R65fs 0.576:0.002 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 tier1 44 0 0.00 22 4 15.38 ENSG00000270726 0 genome.wustl.edu 37 X 155250796 155250796 + RNA SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 X 155250796 155250796 C T SNP ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 - - 23 0 0.00 10 12 54.55 ENTPD2 0 genome.wustl.edu 37 9 139944964 139944964 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 139944964 139944964 C T SNP ENTPD2 ENST00000355097 human ensembl 74_37 -1 known silent c.801 p.P267 0.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 tier1 - - 80 0 0.00 27 29 51.79 EPB41L3 0 genome.wustl.edu 37 18 5398072 5398072 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 5398072 5398072 T G SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2420 p.K807T 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 33 0 0.00 11 14 56.00 EPHA3 0 genome.wustl.edu 37 3 89445011 89445011 + Missense_Mutation SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 89445011 89445011 A G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1331 p.K444R 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_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 - - 38 0 0.00 15 18 54.55 EPHA6 0 genome.wustl.edu 37 3 97194249 97194249 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 97194249 97194249 G A SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.1948 p.V650I 0.997 NULL 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 - - 52 0 0.00 16 6 27.27 ERAP2 0 genome.wustl.edu 37 5 96222452 96222452 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 96222452 96222452 G A SNP ERAP2 ENST00000437043 human ensembl 74_37 +1 known missense c.808 p.D270N 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 tier1 - - 50 0 0.00 28 12 30.00 ETAA1 0 genome.wustl.edu 37 2 67630382 67630382 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 67630382 67630382 G T SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known nonsense c.568 p.E190* 1.000 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 tier1 - - 60 0 0.00 32 3 8.57 EVPL 0 genome.wustl.edu 37 17 74005674 74005674 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 74005674 74005674 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.3612 p.P1204 0.008 superfamily_Ferritin-like_SF,smart_Plectin_repeat pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 - - 28 0 0.00 2 4 66.67 FAAH 0 genome.wustl.edu 37 1 46876041 46876041 + RNA SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 46876041 46876041 G T SNP FAAH ENST00000493636 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAAH HGNC ENSG00000117480 tier1 - - 74 0 0.00 67 4 5.63 FAM111A 0 genome.wustl.edu 37 11 58919796 58919796 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 58919796 58919796 G T SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known nonsense c.655 p.E219* 1.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 69 0 0.00 41 3 6.82 FAM111A 0 genome.wustl.edu 37 11 58919900 58919900 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 58919900 58919900 C T SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known silent c.759 p.T253 0.025 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 26 0 0.00 23 3 11.54 FAM160B1 0 genome.wustl.edu 37 10 116602761 116602761 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 116602761 116602761 G T SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.592 p.D198Y 0.998 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 51 0 0.00 27 2 6.90 FAM179B 0 genome.wustl.edu 37 14 45433174 45433174 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 45433174 45433174 C T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.1550 p.P517L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 57 0 0.00 58 4 6.45 FAM208B 0 genome.wustl.edu 37 10 5803348 5803348 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 5803348 5803348 G T SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.7088 p.R2363L 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 44 0 0.00 36 2 5.26 FAM20C 0 genome.wustl.edu 37 7 299814 299814 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 299814 299814 G A SNP FAM20C ENST00000313766 human ensembl 74_37 +1 known silent c.1623 p.P541 0.029 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20C HGNC ENSG00000177706 tier1 - - 112 0 0.00 112 38 25.33 FAM222B 0 genome.wustl.edu 37 17 27086082 27086082 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 27086082 27086082 T C SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known missense c.895 p.S299G 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 36 0 0.00 51 4 7.27 FAM229B 0 genome.wustl.edu 37 6 112420502 112420502 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 112420502 112420502 G T SNP FAM229B ENST00000368656 human ensembl 74_37 +1 known nonsense c.16 p.G6* 1.000 NULL NULL - no_errors FAM229B HGNC ENSG00000203778 tier1 - - 85 0 0.00 64 4 5.88 FAM230A 0 genome.wustl.edu 37 22 20709156 20709156 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 22 20709156 20709156 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.888 p.D296 0.000 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 81 0 0.00 61 51 45.54 FAM230A 0 genome.wustl.edu 37 22 20710812 20710812 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 22 20710812 20710812 G A SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.2544 p.P848 0.029 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 226 0 0.00 202 64 24.06 FASN 0 genome.wustl.edu 37 17 80048927 80048927 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 80048927 80048927 C T SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.1511 p.R504H 0.355 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 rs41283367 - 55 0 0.00 17 8 32.00 FASN 0 genome.wustl.edu 37 17 80048947 80048947 + Splice_Site SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 80048947 80048947 T C SNP FASN ENST00000306749 human ensembl 74_37 -1 known splice_site c.1493-2 e9-2 1.000 - - - no_errors FASN HGNC ENSG00000169710 tier1 - - 58 0 0.00 17 6 26.09 FAT2 0 genome.wustl.edu 37 5 150921908 150921908 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 150921908 150921908 G T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.8780 p.T2927N 0.889 pfam_Cadherin,superfamily_Cadherin-like,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 23 0 0.00 26 2 7.14 FAXDC2 0 genome.wustl.edu 37 5 154210421 154210421 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 154210421 154210421 G T SNP FAXDC2 ENST00000326080 human ensembl 74_37 -1 known missense c.306 p.D102E 0.992 NULL pfam_Fatty_acid_hydroxylase - no_errors FAXDC2 HGNC ENSG00000170271 tier1 - - 44 0 0.00 45 4 8.00 FBN1 0 genome.wustl.edu 37 15 48807662 48807662 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 15 48807662 48807662 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1390 p.R464C 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 37 0 0.00 13 18 58.06 FBN2 0 genome.wustl.edu 37 5 127595297 127595297 + Silent SNP G G C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 127595297 127595297 G C SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.8589 p.L2863 0.000 pirsf_FBN,superfamily_Cadherin-like pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 70 0 0.00 46 12 20.69 FBXO47 0 genome.wustl.edu 37 17 37107882 37107882 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 37107882 37107882 G A SNP FBXO47 ENST00000378079 human ensembl 74_37 -1 known silent c.568 p.L190 0.977 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO47 HGNC ENSG00000204952 49 0 0.00 34 2 5.56 FEZF1 0 genome.wustl.edu 37 7 121942249 121942249 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 121942249 121942249 G T SNP FEZF1 ENST00000442488 human ensembl 74_37 -1 known nonsense c.1230 p.C410* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 tier1 - - 85 0 0.00 51 4 7.27 FGA 0 genome.wustl.edu 37 4 155507473 155507473 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 155507473 155507473 C A SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.1108 p.A370S 0.000 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 tier1 - - 54 0 0.00 30 20 40.00 FILIP1 0 genome.wustl.edu 37 6 76018615 76018615 + Splice_Site SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 76018615 76018615 T A SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known splice_site c.3436-2 e5-2 1.000 - - - no_errors FILIP1 HGNC ENSG00000118407 74 0 0.00 47 6 11.32 FLJ12825 0 genome.wustl.edu 37 12 54515385 54515385 + RNA SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 54515385 54515385 T G SNP FLJ12825 ENST00000515617 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-834C11.3 Clone_based_vega_gene ENSG00000248265 24 0 0.00 30 4 11.76 FMN2 0 genome.wustl.edu 37 1 240371436 240371436 + Silent SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 240371436 240371436 T C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.3324 p.P1108 0.075 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 62 0 0.00 100 9 8.26 FOLH1 0 genome.wustl.edu 37 11 49175865 49175865 + Silent SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 49175865 49175865 A T SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.1803 p.A601 0.838 superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 44 0 0.00 30 21 41.18 FOXG1 0 genome.wustl.edu 37 14 29237630 29237630 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 29237630 29237630 C T SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.1145 p.A382V 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 - - 29 0 0.00 16 10 38.46 FRAS1 0 genome.wustl.edu 37 4 79458239 79458239 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 79458239 79458239 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.11183 p.T3728M 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 60 0 0.00 25 2 7.41 FRG2B 0 genome.wustl.edu 37 10 135438978 135438978 + Frame_Shift_Del DEL C C - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 135438978 135438978 C 0 DEL FRG2B ENST00000425520 human ensembl 74_37 -1 known frame_shift_del c.462 p.R155fs 0.034 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 152 0 0.00 100 8 7.41 FRY 0 genome.wustl.edu 37 13 32709287 32709287 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 32709287 32709287 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.1044 p.T348 0.086 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 rs201444881 - 77 0 0.00 61 4 6.15 FUBP3 0 genome.wustl.edu 37 9 133470944 133470944 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 133470944 133470944 C T SNP FUBP3 ENST00000319725 human ensembl 74_37 +1 known silent c.159 p.Y53 0.947 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 tier1 - - 32 0 0.00 19 3 13.64 GALNT8 0 genome.wustl.edu 37 12 4874626 4874626 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 4874626 4874626 G T SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.1675 p.D559Y 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 tier1 - - 82 0 0.00 69 5 6.76 GBE1 0 genome.wustl.edu 37 3 81586214 81586214 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 81586214 81586214 A C SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.1651 p.F551V 1.000 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 - - 39 0 0.00 13 20 60.61 GBP1 0 genome.wustl.edu 37 1 89520418 89520418 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 89520418 89520418 C T SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.1612 p.D538N 0.536 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 84 0 0.00 48 3 5.88 GLRA2 0 genome.wustl.edu 37 X 14599304 14599304 + Splice_Site SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 X 14599304 14599304 G T SNP GLRA2 ENST00000218075 human ensembl 74_37 +1 known splice_site c.271-1 e4-1 1.000 - - - no_errors GLRA2 HGNC ENSG00000101958 29 0 0.00 35 4 10.00 GMDS 0 genome.wustl.edu 37 6 1960205 1960205 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 1960205 1960205 C A SNP GMDS ENST00000380815 human ensembl 74_37 -1 known missense c.539 p.G180V 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC ENSG00000112699 tier1 - - 43 0 0.00 30 8 21.05 GNE 0 genome.wustl.edu 37 9 36246411 36246411 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 36246411 36246411 C T SNP GNE ENST00000396594 human ensembl 74_37 -1 known missense c.326 p.G109E 1.000 pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 tier1 - - 32 0 0.00 27 13 32.50 GPR12 0 genome.wustl.edu 37 13 27333439 27333439 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 27333439 27333439 C T SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known missense c.526 p.V176I 0.059 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 tier1 - - 19 0 0.00 12 6 33.33 GPR133 0 genome.wustl.edu 37 12 131569156 131569156 + Missense_Mutation SNP G G C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 131569156 131569156 G C SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1619 p.R540P 0.853 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 53 0 0.00 28 2 6.67 GPR15 0 genome.wustl.edu 37 3 98251394 98251394 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 98251394 98251394 G A SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known missense c.517 p.E173K 0.052 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 tier1 - - 39 0 0.00 20 8 27.59 GPR4 0 genome.wustl.edu 37 19 46095041 46095041 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 46095041 46095041 G A SNP GPR4 ENST00000323040 human ensembl 74_37 -1 known silent c.84 p.I28 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 tier1 - - 43 0 0.00 50 14 21.88 GPRIN1 0 genome.wustl.edu 37 5 176024095 176024095 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 176024095 176024095 C A SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known missense c.2741 p.S914I 1.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 15 0 0.00 15 3 16.67 GRIN1 0 genome.wustl.edu 37 9 140056471 140056471 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 140056471 140056471 C T SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known silent c.1563 p.N521 0.987 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 tier1 - - 98 0 0.00 52 50 49.02 GRM3 0 genome.wustl.edu 37 7 86415724 86415724 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 86415724 86415724 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.616 p.R206C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 53 0 0.00 37 17 31.48 GRN 0 genome.wustl.edu 37 17 42426907 42426907 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 42426907 42426907 C T SNP GRN ENST00000053867 human ensembl 74_37 +1 known silent c.252 p.C84 1.000 pfam_Granulin,smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 tier1 - - 28 0 0.00 8 3 27.27 GTF3C3 0 genome.wustl.edu 37 2 197645322 197645322 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 197645322 197645322 C T SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.1179 p.M393I 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 tier1 - - 45 0 0.00 28 6 17.65 HDX 0 genome.wustl.edu 37 X 83599352 83599352 + Silent SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 X 83599352 83599352 T A SNP HDX ENST00000297977 human ensembl 74_37 -1 known silent c.1566 p.A522 0.453 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 tier1 - - 33 0 0.00 16 36 69.23 HIST1H2AL 0 genome.wustl.edu 37 6 27833152 27833152 + Missense_Mutation SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 27833152 27833152 A T SNP HIST1H2AL ENST00000357320 human ensembl 74_37 +1 known missense c.20 p.Q7L 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC ENSG00000198374 tier1 - - 62 0 0.00 46 16 25.81 HIST1H4B 0 genome.wustl.edu 37 6 26027469 26027469 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 26027469 26027469 G A SNP HIST1H4B ENST00000377364 human ensembl 74_37 -1 known silent c.12 p.R4 0.247 superfamily_Histone-fold pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4B HGNC ENSG00000124529 32 0 0.00 20 7 25.93 HLA-V 0 genome.wustl.edu 37 6 29760373 29760373 + RNA SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 29760373 29760373 A C SNP HLA-V ENST00000446817 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HLA-V HGNC ENSG00000181126 tier1 rs2905755 - 35 0 0.00 30 7 18.92 HNRNPA1 0 genome.wustl.edu 37 12 54675946 54675946 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 54675946 54675946 G T SNP HNRNPA1 ENST00000340913 human ensembl 74_37 +1 known nonsense c.352 p.E118* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1 HGNC ENSG00000135486 24 0 0.00 37 2 5.13 HNRNPH3 0 genome.wustl.edu 37 10 70097608 70097608 + RNA SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 70097608 70097608 G T SNP HNRNPH3 ENST00000469172 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HNRNPH3 HGNC ENSG00000096746 tier1 - - 65 0 0.00 74 4 5.13 HPS3 0 genome.wustl.edu 37 3 148868389 148868389 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 148868389 148868389 C T SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known silent c.1167 p.N389 1.000 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 tier1 - - 155 0 0.00 44 65 59.63 HS2ST1 0 genome.wustl.edu 37 1 87558249 87558249 + Missense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 87558249 87558249 T A SNP HS2ST1 ENST00000370550 human ensembl 74_37 +1 known missense c.485 p.V162D 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS2ST1 HGNC ENSG00000153936 tier1 - - 79 0 0.00 54 4 6.90 HSPG2 0 genome.wustl.edu 37 1 22168802 22168802 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 22168802 22168802 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.8982 p.A2994 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 rs143921375 - 89 0 0.00 55 25 31.25 HTRA3 0 genome.wustl.edu 37 4 8305945 8305945 + Missense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 8305945 8305945 T A SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known missense c.1135 p.F379I 1.000 superfamily_PDZ,smart_PDZ pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 tier1 - - 81 0 0.00 26 23 46.94 IFRD2 0 genome.wustl.edu 37 3 50327897 50327898 + Frame_Shift_Ins INS - - C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 50327897 50327898 - C INS IFRD2 ENST00000336089 human ensembl 74_37 -1 known frame_shift_ins c.683_682 p.D228fs 0.995:0.996 pfam_Interferon-rel_develop_reg_N pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 tier1 55 0 0.00 34 12 26.09 INTS4L2 0 genome.wustl.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 65150713 65150714 0 A INS INTS4L2 ENST00000430126 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.995 - - - no_errors INTS4L2 HGNC ENSG00000232270 59 0 0.00 66 7 9.59 IRGQ 0 genome.wustl.edu 37 19 44096941 44096941 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 44096941 44096941 C T SNP IRGQ ENST00000422989 human ensembl 74_37 -1 known missense c.1109 p.R370K 0.000 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 tier1 - - 46 0 0.00 82 12 12.77 IRX5 0 genome.wustl.edu 37 16 54966542 54966542 + Missense_Mutation SNP C C G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 16 54966542 54966542 C G SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.382 p.L128V 0.996 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 tier1 - - 85 0 0.00 67 22 24.72 IZUMO1 0 genome.wustl.edu 37 19 49244206 49244206 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 49244206 49244206 G T SNP IZUMO1 ENST00000332955 human ensembl 74_37 -1 known missense c.1012 p.Q338K 0.000 NULL NULL - no_errors IZUMO1 HGNC ENSG00000182264 tier1 - - 59 0 0.00 74 5 6.33 JRKL 0 genome.wustl.edu 37 11 96124568 96124568 + Frame_Shift_Del DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 96124568 96124568 A - DEL JRKL ENST00000332349 human ensembl 74_37 +1 known frame_shift_del c.755 p.G254fs 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC ENSG00000183340 tier1 50 0 0.00 27 3 10.00 KCNA4 0 genome.wustl.edu 37 11 30034788 30034788 + RNA SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 30034788 30034788 A T SNP KCNA4 ENST00000526518 human ensembl 74_37 -1 putative rna NULL NULL 0.005 - - - no_errors KCNA4 HGNC ENSG00000182255 tier1 - - 78 0 0.00 33 64 65.98 KCNJ6 0 genome.wustl.edu 37 21 39086663 39086663 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 21 39086663 39086663 G A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.797 p.T266M 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 tier1 - - 80 0 0.00 46 5 9.80 KIAA0753 0 genome.wustl.edu 37 17 6513430 6513430 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 6513430 6513430 G T SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.1596 p.S532R 0.958 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 tier1 - - 66 0 0.00 53 5 8.62 KIAA1161 0 genome.wustl.edu 37 9 34371718 34371718 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 34371718 34371718 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.1122 p.R374 0.941 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 9 0 0.00 15 6 28.57 KIAA1524 0 genome.wustl.edu 37 3 108270008 108270008 + Missense_Mutation SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 108270008 108270008 A T SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known missense c.2706 p.N902K 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 tier1 - - 93 0 0.00 49 20 28.99 KIAA1551 0 genome.wustl.edu 37 12 32134931 32134931 + Nonsense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 32134931 32134931 C T SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known nonsense c.1042 p.Q348* 0.027 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 27 0 0.00 32 3 8.57 KL 0 genome.wustl.edu 37 13 33635918 33635918 + Splice_Site SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 33635918 33635918 G T SNP KL ENST00000380099 human ensembl 74_37 +1 known splice_site c.2701+1 e4+1 1.000 - - - no_errors KL HGNC ENSG00000133116 22 0 0.00 16 2 11.11 KLHL29 0 genome.wustl.edu 37 2 23926638 23926638 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 23926638 23926638 G T SNP KLHL29 ENST00000486442 human ensembl 74_37 +1 known silent c.2349 p.L783 1.000 smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 tier1 - - 68 0 0.00 48 4 7.69 KLHL42 0 genome.wustl.edu 37 12 27950675 27950675 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 27950675 27950675 G T SNP KLHL42 ENST00000381271 human ensembl 74_37 +1 known missense c.1094 p.C365F 1.000 smart_Kelch_1 pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 53 0 0.00 39 3 7.14 KMT2D 0 genome.wustl.edu 37 12 49431220 49431220 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 49431220 49431220 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.9919 p.A3307T 0.951 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 29 0 0.00 15 7 31.82 KMT2E 0 genome.wustl.edu 37 7 104746052 104746052 + Missense_Mutation SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 104746052 104746052 A T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.2363 p.K788M 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 70 0 0.00 70 13 15.48 KRT1 0 genome.wustl.edu 37 12 53074082 53074082 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 53074082 53074082 G T SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.51 p.F17L 0.975 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 39 0 0.00 74 4 5.13 KRTAP4-9 0 genome.wustl.edu 37 17 39262214 39262214 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 39262214 39262214 C T SNP KRTAP4-9 ENST00000391415 human ensembl 74_37 +1 known missense c.574 p.P192S 0.984 NULL pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 tier1 - - 153 0 0.00 99 49 33.11 LINC00693 0 genome.wustl.edu 37 3 28616803 28616803 + RNA SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 28616803 28616803 C T SNP LINC00693 ENST00000432518 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00693 HGNC ENSG00000228214 tier1 - - 15 0 0.00 4 6 60.00 LOC100996779 0 genome.wustl.edu 37 GL000219.1 88293 88293 + Splice_Site SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 GL000219.1 88293 88293 A C SNP LOC100996779 ENST00000418749 human ensembl 74_37 -1 known splice_site c.66+2 e1+2 NULL - - - no_errors AL592183.1 Clone_based_ensembl_gene ENSG00000220023 tier1 - - 371 0 0.00 292 39 11.78 LOC101930053 0 genome.wustl.edu 37 9 2622172 2622172 + RNA SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 2622172 2622172 A G SNP LOC101930053 ENST00000453601 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-125B21.2 Clone_based_vega_gene ENSG00000236404 14 0 0.00 11 5 31.25 LOC400743 0 genome.wustl.edu 37 1 17521379 17521379 + RNA SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 17521379 17521379 G T SNP LOC400743 ENST00000412427 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-380J14.1 Clone_based_vega_gene ENSG00000204362 tier1 - - 19 0 0.00 15 4 21.05 LOC440602 0 genome.wustl.edu 37 1 111032771 111032771 + RNA SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 111032771 111032771 G T SNP LOC440602 ENST00000457402 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors RP11-470L19.2 Clone_based_vega_gene ENSG00000235407 60 0 0.00 46 4 8.00 LOC644669 0 genome.wustl.edu 37 18 15316546 15316546 + RNA SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 15316546 15316546 A G SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.174 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 tier1 - - 42 0 0.00 43 6 12.24 LRP1B 0 genome.wustl.edu 37 2 141253199 141253199 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 141253199 141253199 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8969 p.K2990R 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 68 0 0.00 31 10 24.39 LRRC8D 0 genome.wustl.edu 37 1 90399229 90399229 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 90399229 90399229 G A SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.602 p.G201E 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 tier1 - - 39 0 0.00 17 5 22.73 LRRFIP2 0 genome.wustl.edu 37 3 37146969 37146969 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 37146969 37146969 T C SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known missense c.760 p.S254G 1.000 NULL pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 34 0 0.00 38 2 5.00 LRRIQ4 0 genome.wustl.edu 37 3 169540621 169540621 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 169540621 169540621 C T SNP LRRIQ4 ENST00000340806 human ensembl 74_37 +1 known silent c.912 p.N304 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 tier1 - - 38 0 0.00 20 15 42.86 LRRTM1 0 genome.wustl.edu 37 2 80529477 80529477 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 80529477 80529477 C T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.1468 p.V490I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 62 0 0.00 32 8 20.00 MAG 0 genome.wustl.edu 37 19 35791232 35791232 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 35791232 35791232 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.895 p.E299K 0.376 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 tier1 - - 60 0 0.00 22 29 56.86 MAGEA1 0 genome.wustl.edu 37 X 152482748 152482748 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 X 152482748 152482748 G A SNP MAGEA1 ENST00000356661 human ensembl 74_37 -1 known missense c.263 p.P88L 0.004 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA1 HGNC ENSG00000198681 tier1 - - 62 0 0.00 18 53 74.65 MAGEC3 0 genome.wustl.edu 37 X 140983197 140983197 + Missense_Mutation SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 X 140983197 140983197 A T SNP MAGEC3 ENST00000448920 human ensembl 74_37 +1 known missense c.308 p.K103M 0.001 NULL NULL - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 47 0 0.00 48 4 7.69 MALSU1 0 genome.wustl.edu 37 7 23339222 23339222 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 23339222 23339222 C T SNP MALSU1 ENST00000466681 human ensembl 74_37 +1 known missense c.251 p.A84V 0.004 NULL pfam_Oligomer_dom,tigrfam_Iojap/RsfS - no_errors MALSU1 HGNC ENSG00000156928 tier1 - - 41 0 0.00 25 5 16.67 MAML2 0 genome.wustl.edu 37 11 95825153 95825153 + Missense_Mutation SNP C C G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 95825153 95825153 C G SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.2042 p.R681T 0.667 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 96 0 0.00 50 22 30.56 MAP1S 0 genome.wustl.edu 37 19 17837647 17837647 + Missense_Mutation SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 17837647 17837647 A G SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.1454 p.E485G 0.001 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 35 0 0.00 39 4 9.30 MAPK4 0 genome.wustl.edu 37 18 48256214 48256214 + Frame_Shift_Del DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 48256214 48256214 A - DEL MAPK4 ENST00000400384 human ensembl 74_37 +1 known frame_shift_del c.1754 p.R586fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 tier1 19 0 0.00 26 2 7.14 MCAM 0 genome.wustl.edu 37 11 119183561 119183561 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 119183561 119183561 G T SNP MCAM ENST00000264036 human ensembl 74_37 -1 known missense c.658 p.Q220K 0.986 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 51 0 0.00 43 3 6.52 MDH1B 0 genome.wustl.edu 37 2 207629974 207629974 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 207629974 207629974 C T SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.22 p.G8S 0.994 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 tier1 - - 78 0 0.00 35 19 35.19 METTL22 0 genome.wustl.edu 37 16 8719651 8719651 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 16 8719651 8719651 G T SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known missense c.129 p.Q43H 1.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 tier1 - - 38 0 0.00 34 4 10.26 MGAM 0 genome.wustl.edu 37 7 141750548 141750548 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 141750548 141750548 T G SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.2689 p.L897V 0.109 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 63 0 0.00 33 11 25.00 MIR3199-2 0 genome.wustl.edu 37 22 28316525 28316525 + RNA SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 22 28316525 28316525 G T SNP MIR3199-2 ENST00000582434 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MIR3199-2 HGNC ENSG00000264073 tier1 - - 47 0 0.00 15 23 60.53 MIR3613 0 genome.wustl.edu 37 13 50570605 50570605 + RNA DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 50570605 50570605 A - DEL MIR3613 ENST00000579844 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR3613 HGNC ENSG00000264864 tier1 37 0 0.00 18 2 10.00 MIR920 0 genome.wustl.edu 37 12 24365393 24365393 + RNA SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 24365393 24365393 A G SNP MIR920 ENST00000401373 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors MIR920 HGNC ENSG00000216192 tier1 - - 19 0 0.00 14 9 39.13 MLLT10 0 genome.wustl.edu 37 10 21959772 21959773 + RNA INS - - T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 21959772 21959773 - T INS MLLT10 ENST00000468309 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors MLLT10 HGNC ENSG00000078403 tier1 8 0 0.00 1 3 75.00 MLLT10 0 genome.wustl.edu 37 10 22021940 22021940 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 22021940 22021940 G T SNP MLLT10 ENST00000307729 human ensembl 74_37 +1 known missense c.2331 p.Q777H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 65 0 0.00 32 2 5.88 MMP8 0 genome.wustl.edu 37 11 102587084 102587084 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 102587084 102587084 G T SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.851 p.T284K 0.040 superfamily_Hemopexin-like_dom,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 tier1 - - 125 0 0.00 71 4 5.33 MMS19 0 genome.wustl.edu 37 10 99236630 99236630 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 99236630 99236630 C T SNP MMS19 ENST00000370782 human ensembl 74_37 -1 known missense c.584 p.R195H 0.955 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 tier1 - - 64 0 0.00 57 4 6.56 MS4A10 0 genome.wustl.edu 37 11 60565961 60565961 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 60565961 60565961 C T SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known silent c.696 p.G232 0.000 NULL pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 tier1 - - 60 0 0.00 37 6 13.95 MSX1 0 genome.wustl.edu 37 4 4864564 4864564 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 4864564 4864564 C T SNP MSX1 ENST00000382723 human ensembl 74_37 +1 known silent c.606 p.R202 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 tier1 - - 65 0 0.00 17 14 45.16 MT-TK 0 genome.wustl.edu 37 MT 8317 8317 + RNA SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 MT 8317 8317 T A SNP MT-TK ENST00000387421 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TK HGNC ENSG00000210156 tier1 - - 70 0 0.00 11 2 15.38 MTX2 0 genome.wustl.edu 37 2 177194108 177194108 + Missense_Mutation SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 177194108 177194108 A G SNP MTX2 ENST00000249442 human ensembl 74_37 +1 known missense c.497 p.K166R 0.940 superfamily_Glutathione-S-Trfase_C-like pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors MTX2 HGNC ENSG00000128654 tier1 - - 57 0 0.00 39 4 9.30 MYH6 0 genome.wustl.edu 37 14 23872944 23872944 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 23872944 23872944 G T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.779 p.A260D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 56 0 0.00 53 4 7.02 MYL7 0 genome.wustl.edu 37 7 44178520 44178520 + Nonstop_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 44178520 44178520 T C SNP MYL7 ENST00000223364 human ensembl 74_37 -1 known nonstop c.528 p.*176W 0.582 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL7 HGNC ENSG00000106631 52 0 0.00 43 4 8.51 MYO16 0 genome.wustl.edu 37 13 109672130 109672130 + Frame_Shift_Del DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 109672130 109672130 A - DEL MYO16 ENST00000356711 human ensembl 74_37 +1 known frame_shift_del c.2601 p.K869fs 0.992 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 73 0 0.00 27 11 28.95 MYOM2 0 genome.wustl.edu 37 8 2065706 2065706 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 8 2065706 2065706 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.3418 p.V1140I 0.915 smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 64 0 0.00 39 22 36.07 MYOM3 0 genome.wustl.edu 37 1 24411017 24411017 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 24411017 24411017 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known silent c.1914 p.S638 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 tier1 - - 63 0 0.00 42 11 20.75 MYRF 0 genome.wustl.edu 37 11 61547319 61547319 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 61547319 61547319 G T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known silent c.2253 p.S751 0.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 53 0 0.00 32 2 5.88 NBEA 0 genome.wustl.edu 37 13 36180665 36180665 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 36180665 36180665 C A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.7399 p.L2467I 0.997 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 65 0 0.00 12 30 71.43 NBEAL1 0 genome.wustl.edu 37 2 204039885 204039885 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 204039885 204039885 G T SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.6252 p.E2084D 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 tier1 - - 93 0 0.00 71 4 5.33 NBPF14 0 genome.wustl.edu 37 1 148009510 148009510 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 148009510 148009510 G T SNP NBPF14 ENST00000369219 human ensembl 74_37 -1 known missense c.1797 p.S599R 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 tier1 - - 64 0 0.00 87 17 15.32 NCAPD2 0 genome.wustl.edu 37 12 6620372 6620372 + Missense_Mutation SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 6620372 6620372 A T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.541 p.I181F 1.000 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 70 0 0.00 44 3 6.38 NDRG2 0 genome.wustl.edu 37 14 21488086 21488086 + Frame_Shift_Del DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 21488086 21488086 A - DEL NDRG2 ENST00000298687 human ensembl 74_37 -1 known frame_shift_del c.605 p.F202fs 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG2 HGNC ENSG00000165795 tier1 26 0 0.00 26 2 7.14 NDST1 0 genome.wustl.edu 37 5 149919713 149919713 + Missense_Mutation SNP C C G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 149919713 149919713 C G SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.1636 p.L546V 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 37 0 0.00 14 16 53.33 NDUFS7 0 genome.wustl.edu 37 19 1393355 1393355 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 1393355 1393355 G A SNP NDUFS7 ENST00000313408 human ensembl 74_37 +1 known silent c.570 p.T190 0.002 NULL pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su - no_errors NDUFS7 HGNC ENSG00000115286 tier1 - - 41 0 0.00 12 26 68.42 NELFCD 0 genome.wustl.edu 37 20 57564950 57564950 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 20 57564950 57564950 C T SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.749 p.A250V 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 tier1 - - 38 0 0.00 57 4 6.56 NFATC1 0 genome.wustl.edu 37 18 77246370 77246370 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 77246370 77246370 G A SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.2215 p.D739N 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 tier1 - - 51 0 0.00 22 10 31.25 NKX2-2 0 genome.wustl.edu 37 20 21492909 21492909 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 20 21492909 21492909 G A SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known silent c.474 p.R158 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 tier1 - - 134 0 0.00 79 73 48.03 NLRP11 0 genome.wustl.edu 37 19 56320173 56320173 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 56320173 56320173 G A SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known silent c.1803 p.I601 0.016 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 tier1 - - 55 0 0.00 57 22 27.50 NLRP8 0 genome.wustl.edu 37 19 56466632 56466632 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 56466632 56466632 G T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1208 p.C403F 0.108 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 tier1 - - 53 0 0.00 48 9 15.79 NOS1AP 0 genome.wustl.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 162326888 162326890 CAG - DEL NOS1AP ENST00000361897 human ensembl 74_37 +1 known in_frame_del c.901_903 p.Q304in_frame_del 1.000:1.000:1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 tier1 24 0 0.00 24 3 11.11 NRP1 0 genome.wustl.edu 37 10 33471651 33471651 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 33471651 33471651 G A SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known silent c.2457 p.N819 0.987 pirsf_Neuropilin pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 tier1 - - 109 0 0.00 46 15 24.59 NRROS 0 genome.wustl.edu 37 3 196388263 196388263 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 196388263 196388263 G T SNP NRROS ENST00000328557 human ensembl 74_37 +1 known silent c.1749 p.S583 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 40 0 0.00 36 2 5.26 NSUN5 0 genome.wustl.edu 37 7 72718984 72718984 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 72718984 72718984 C T SNP NSUN5 ENST00000438747 human ensembl 74_37 -1 known missense c.611 p.R204Q 0.721 pfam_Fmu/NOL1/Nop2p,prints_RCMT pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 tier1 - - 70 0 0.00 59 15 20.27 OPCML 0 genome.wustl.edu 37 11 132290049 132290049 + RNA SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 132290049 132290049 G A SNP OPCML ENST00000529038 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors OPCML HGNC ENSG00000183715 tier1 - - 35 0 0.00 14 10 41.67 OR11L1 0 genome.wustl.edu 37 1 248004654 248004654 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 248004654 248004654 G T SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.545 p.P182Q 0.298 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 50 0 0.00 38 2 5.00 OR14A2 0 genome.wustl.edu 37 1 247887171 247887171 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 247887171 247887171 A C SNP OR14A2 ENST00000366485 human ensembl 74_37 -1 known missense c.175 p.F59V 1.000 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 OR14A2 HGNC ENSG00000241128 tier1 - - 48 0 0.00 33 14 29.79 OR1L1 0 genome.wustl.edu 37 9 125424901 125424901 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 125424901 125424901 T G SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.1057 p.L353V 0.011 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC ENSG00000173679 tier1 - - 22 0 0.00 18 9 33.33 OR2A42 0 genome.wustl.edu 37 7 143929621 143929621 + Missense_Mutation SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 143929621 143929621 A T SNP OR2A42 ENST00000391496 human ensembl 74_37 -1 known missense c.316 p.F106I 0.103 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2A42 HGNC ENSG00000212807 tier1 - - 85 0 0.00 37 22 37.29 OR2L5 0 genome.wustl.edu 37 1 248185653 248185653 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 248185653 248185653 T C SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known missense c.404 p.M135T 0.921 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 tier1 - - 100 0 0.00 51 25 32.89 OR4X1 0 genome.wustl.edu 37 11 48286288 48286288 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 48286288 48286288 G T SNP OR4X1 ENST00000320048 human ensembl 74_37 +1 known silent c.876 p.V292 0.008 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 28 0 0.00 35 2 5.41 OR5D14 0 genome.wustl.edu 37 11 55563643 55563643 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 55563643 55563643 C T SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known silent c.612 p.F204 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 tier1 - - 127 0 0.00 62 92 59.74 OR5T1 0 genome.wustl.edu 37 11 56043680 56043680 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 56043680 56043680 T C SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known missense c.566 p.V189A 0.001 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 OR5T1 HGNC ENSG00000181698 tier1 - - 67 0 0.00 52 61 53.98 OR6C68 0 genome.wustl.edu 37 12 55886609 55886609 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 55886609 55886609 G A SNP OR6C68 ENST00000379662 human ensembl 74_37 +1 known missense c.463 p.A155T 0.006 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C68 HGNC ENSG00000205327 tier1 - - 50 0 0.00 44 12 21.43 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899971 112899971 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 112899971 112899971 C T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.2147 p.T716I 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 - - 26 0 0.00 15 8 34.78 PAX1 0 genome.wustl.edu 37 20 21686355 21686355 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 20 21686355 21686355 A C SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.5 p.K2T 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 91 0 0.00 66 22 25.00 PCDHA3 0 genome.wustl.edu 37 5 140182828 140182828 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 140182828 140182828 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.2046 p.A682 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 99 0 0.00 47 18 27.69 PCDHB12 0 genome.wustl.edu 37 5 140589171 140589171 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 140589171 140589171 T C SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.692 p.V231A 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 49 0 0.00 23 11 32.35 PCDHB15 0 genome.wustl.edu 37 5 140626975 140626975 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 140626975 140626975 C A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1829 p.T610K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 tier1 - - 129 0 0.00 90 33 26.61 PCDHB4 0 genome.wustl.edu 37 5 140503257 140503257 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 140503257 140503257 C A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.1677 p.F559L 0.969 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 187 0 0.00 116 62 34.83 PCMTD1 0 genome.wustl.edu 37 8 52733082 52733082 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 8 52733082 52733082 G A SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known silent c.903 p.D301 1.000 NULL pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 63 0 0.00 65 14 17.72 PCYT2 0 genome.wustl.edu 37 17 79862952 79862952 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 79862952 79862952 T C SNP PCYT2 ENST00000538721 human ensembl 74_37 -1 known missense c.1102 p.I368V 1.000 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT2 HGNC ENSG00000185813 tier1 - - 24 0 0.00 21 10 32.26 PDE3A 0 genome.wustl.edu 37 12 20522243 20522243 + Nonsense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 20522243 20522243 C T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known nonsense c.25 p.R9* 0.005 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 15 0 0.00 1 5 83.33 PDE3A 0 genome.wustl.edu 37 12 20522419 20522419 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 20522419 20522419 G A SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.201 p.A67 0.979 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 20 0 0.00 5 3 37.50 PDZRN3 0 genome.wustl.edu 37 3 73453350 73453350 + Missense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 73453350 73453350 T A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.1115 p.K372M 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 83 0 0.00 53 4 7.02 PDZRN3 0 genome.wustl.edu 37 3 73673859 73673859 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 73673859 73673859 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.118 p.G40S 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 32 0 0.00 20 13 39.39 PEG3 0 genome.wustl.edu 37 19 57325232 57325232 + Silent SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 57325232 57325232 A G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.4578 p.T1526 0.009 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 68 0 0.00 53 27 33.75 PELI3 0 genome.wustl.edu 37 11 66238737 66238737 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 66238737 66238737 G T SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known silent c.249 p.G83 0.902 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 tier1 - - 50 0 0.00 31 12 27.91 PGBD1 0 genome.wustl.edu 37 6 28269197 28269197 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 28269197 28269197 G T SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.1566 p.L522F 0.997 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 tier1 - - 35 0 0.00 13 7 35.00 PHC3 0 genome.wustl.edu 37 3 169889137 169889138 + Frame_Shift_Ins INS - - A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 169889137 169889138 0 A INS PHC3 ENST00000497658 human ensembl 74_37 -1 known frame_shift_ins c.438_437 p.L147fs 0.001:0.001 NULL NULL - no_errors PHC3 HGNC ENSG00000173889 114 0 0.00 94 7 6.93 PHF15 0 genome.wustl.edu 37 5 133887749 133887749 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 133887749 133887749 G A SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.161 p.R54Q 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 tier1 - - 51 0 0.00 39 14 26.42 PHF7 0 genome.wustl.edu 37 3 52457215 52457215 + Nonsense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 52457215 52457215 G A SNP PHF7 ENST00000327906 human ensembl 74_37 +1 known nonsense c.1028 p.W343* 0.697 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_RING - no_errors PHF7 HGNC ENSG00000010318 tier1 - - 65 0 0.00 12 28 70.00 PIEZO2 0 genome.wustl.edu 37 18 10857193 10857194 + Frame_Shift_Ins INS - - T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 10857193 10857194 - T INS PIEZO2 ENST00000582913 human ensembl 74_37 -1 known frame_shift_ins c.509_508 p.I170fs 0.851:0.539 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 52 0 0.00 30 16 34.78 PIK3C2G 0 genome.wustl.edu 37 12 18534755 18534755 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 18534755 18534755 G A SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.1936 p.V646I 0.384 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 62 0 0.00 54 3 5.26 PIK3CA 0 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 178917478 178917478 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.353 p.G118D 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 - - 47 0 0.00 35 16 31.37 PIWIL1 0 genome.wustl.edu 37 12 130831046 130831046 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 130831046 130831046 C A SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known missense c.448 p.L150I 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 34 0 0.00 38 2 5.00 PKD1L1 0 genome.wustl.edu 37 7 47979806 47979806 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 47979806 47979806 G T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known nonsense c.269 p.S90* 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 58 0 0.00 56 4 6.67 PLEKHO2 0 genome.wustl.edu 37 15 65157548 65157548 + Frame_Shift_Del DEL C C - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 15 65157548 65157548 C - DEL PLEKHO2 ENST00000323544 human ensembl 74_37 +1 known frame_shift_del c.934 p.P313fs 0.992 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 tier1 51 0 0.00 17 25 59.52 PPP1R12B 0 genome.wustl.edu 37 1 202549679 202549679 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 202549679 202549679 G T SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known silent c.2940 p.L980 0.965 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 tier1 - - 35 0 0.00 32 4 11.11 PPP1R1C 0 genome.wustl.edu 37 2 182928463 182928463 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 182928463 182928463 G T SNP PPP1R1C ENST00000409137 human ensembl 74_37 +1 known missense c.186 p.Q62H 1.000 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1C HGNC ENSG00000150722 63 0 0.00 36 2 5.26 PRAMEF4 0 genome.wustl.edu 37 1 12943091 12943091 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 12943091 12943091 A C SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known missense c.125 p.F42C 0.054 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 tier1 - - 189 0 0.00 163 53 24.54 PRDM9 0 genome.wustl.edu 37 5 23526579 23526579 + Missense_Mutation SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 23526579 23526579 A T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.1382 p.K461I 0.523 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 73 0 0.00 95 13 12.04 PRIM2 0 genome.wustl.edu 37 6 57244769 57244769 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 57244769 57244769 A C SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known missense c.530 p.K177T 0.000 NULL pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 129 0 0.00 65 6 8.33 PRUNE2 0 genome.wustl.edu 37 9 79253189 79253189 + Frame_Shift_Del DEL C C - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 79253189 79253189 C - DEL PRUNE2 ENST00000428286 human ensembl 74_37 -1 known frame_shift_del c.7670 p.G2557fs 1.000 pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 55 0 0.00 16 2 11.11 PTCHD3 0 genome.wustl.edu 37 10 27702849 27702849 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 27702849 27702849 G A SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.331 p.R111W 0.002 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 46 0 0.00 26 5 16.13 PTOV1 0 genome.wustl.edu 37 19 50358446 50358446 + RNA SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 50358446 50358446 A G SNP PTOV1 ENST00000600105 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PTOV1 HGNC ENSG00000104960 tier1 - - 33 0 0.00 27 17 38.64 PTPRR 0 genome.wustl.edu 37 12 71286634 71286635 + Frame_Shift_Ins INS - - T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 71286634 71286635 - T INS PTPRR ENST00000283228 human ensembl 74_37 -1 known frame_shift_ins c.182_181 p.I61fs 0.989:0.992 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 tier1 70 0 0.00 67 18 21.18 PTPRS 0 genome.wustl.edu 37 19 5229535 5229535 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 5229535 5229535 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.2319 p.P773 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 11 0 0.00 3 5 62.50 PWWP2A 0 genome.wustl.edu 37 5 159546081 159546081 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 159546081 159546081 G A SNP PWWP2A ENST00000307063 human ensembl 74_37 -1 known silent c.315 p.A105 0.001 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2A HGNC ENSG00000170234 11 0 0.00 15 3 16.67 RAB27A 0 genome.wustl.edu 37 15 55516100 55516100 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 15 55516100 55516100 C T SNP RAB27A ENST00000336787 human ensembl 74_37 -1 known missense c.454 p.A152T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27A HGNC ENSG00000069974 tier1 - - 76 0 0.00 57 4 6.56 RAB2A 0 genome.wustl.edu 37 8 61504469 61504469 + Nonsense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 8 61504469 61504469 C T SNP RAB2A ENST00000262646 human ensembl 74_37 +1 known nonsense c.415 p.R139* 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2A HGNC ENSG00000104388 tier1 - - 67 0 0.00 45 4 8.16 RABEP1 0 genome.wustl.edu 37 17 5271755 5271755 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 5271755 5271755 G T SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known nonsense c.1876 p.E626* 1.000 pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 24 0 0.00 34 4 10.53 RAD51B 0 genome.wustl.edu 37 14 68934957 68934957 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 68934957 68934957 G A SNP RAD51B ENST00000487270 human ensembl 74_37 +1 known silent c.1026 p.L342 1.000 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC ENSG00000182185 tier1 - - 73 0 0.00 53 4 7.02 RANBP3L 0 genome.wustl.edu 37 5 36269493 36269493 + Silent SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 36269493 36269493 T A SNP RANBP3L ENST00000296604 human ensembl 74_37 -1 known silent c.267 p.G89 0.999 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC ENSG00000164188 tier1 - - 92 0 0.00 52 37 41.57 RASSF1 0 genome.wustl.edu 37 3 50374875 50374876 + RNA INS - - AG TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 50374875 50374876 - AG INS RASSF1 ENST00000488024 human ensembl 74_37 -1 known rna NULL NULL 1.000:0.946 - - - no_errors RASSF1 HGNC ENSG00000068028 tier1 8 0 0.00 1 6 85.71 RBM4 0 genome.wustl.edu 37 11 66411101 66411101 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 66411101 66411101 G A SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known missense c.593 p.R198H 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 tier1 - - 39 0 0.00 19 12 38.71 RIMS1 0 genome.wustl.edu 37 6 72975164 72975164 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 72975164 72975164 T G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.3266 p.F1089C 0.107 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 97 0 0.00 38 18 32.14 RIPK1 0 genome.wustl.edu 37 6 3105845 3105845 + Missense_Mutation SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 3105845 3105845 A G SNP RIPK1 ENST00000259808 human ensembl 74_37 +1 known missense c.1136 p.Q379R 0.998 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 31 0 0.00 30 2 6.25 RNPEP 0 genome.wustl.edu 37 1 201965370 201965370 + Missense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 201965370 201965370 T A SNP RNPEP ENST00000295640 human ensembl 74_37 +1 known missense c.833 p.F278Y 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 69 0 0.00 66 4 5.71 ROBO2 0 genome.wustl.edu 37 3 77600026 77600026 + Missense_Mutation SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 77600026 77600026 A T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1117 p.T373S 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 69 0 0.00 23 43 65.15 ROCK1P1 0 genome.wustl.edu 37 18 121145 121147 + RNA DEL TTG TTG - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 121145 121147 TTG - DEL ROCK1P1 ENST00000608049 human ensembl 74_37 +1 known rna NULL NULL 0.605:0.625:0.630 - - - no_errors ROCK1P1 HGNC ENSG00000263006 tier1 26 0 0.00 29 5 14.71 RPSAP58 0 genome.wustl.edu 37 19 24010482 24010482 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 24010482 24010482 G A SNP RPSAP58 ENST00000354585 human ensembl 74_37 +1 known silent c.519 p.L173 0.998 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 tier1 - - 43 0 0.00 54 10 15.62 RPSAP58 0 genome.wustl.edu 37 19 24010155 24010155 + Silent SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 24010155 24010155 T A SNP RPSAP58 ENST00000354585 human ensembl 74_37 +1 known silent c.192 p.A64 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 50 0 0.00 43 7 14.00 RTKN2 0 genome.wustl.edu 37 10 64022582 64022583 + Splice_Site INS - - A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 64022582 64022583 - A INS RTKN2 ENST00000373789 human ensembl 74_37 -1 known splice_site_ins c.61-3_61-2 e2-2 1.000:0.881 - - - no_errors RTKN2 HGNC ENSG00000182010 tier1 44 0 0.00 27 5 15.62 RTP2 0 genome.wustl.edu 37 3 187416659 187416659 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 187416659 187416659 G A SNP RTP2 ENST00000358241 human ensembl 74_37 -1 known missense c.305 p.A102V 0.998 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 tier1 - - 32 0 0.00 17 6 26.09 RUFY4 0 genome.wustl.edu 37 2 218940110 218940110 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 218940110 218940110 G A SNP RUFY4 ENST00000374155 human ensembl 74_37 +1 known missense c.955 p.G319R 0.001 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run - no_errors RUFY4 HGNC ENSG00000188282 tier1 - - 49 0 0.00 23 10 30.30 RYR2 0 genome.wustl.edu 37 1 237777985 237777985 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 237777985 237777985 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known nonsense c.5551 p.E1851* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 17 0 0.00 18 3 14.29 S1PR4 0 genome.wustl.edu 37 19 3179262 3179262 + Nonsense_Mutation SNP A A T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 3179262 3179262 A T SNP S1PR4 ENST00000246115 human ensembl 74_37 +1 known nonsense c.472 p.K158* 0.988 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR4 HGNC ENSG00000125910 tier1 - - 55 0 0.00 45 4 8.16 SACS 0 genome.wustl.edu 37 13 23915370 23915370 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 23915370 23915370 T G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.2645 p.K882T 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 80 0 0.00 23 43 65.15 SAMD4A 0 genome.wustl.edu 37 14 55255674 55255674 + RNA SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 55255674 55255674 G A SNP SAMD4A ENST00000553988 human ensembl 74_37 +1 known rna NULL NULL 0.947 - - - no_errors SAMD4A HGNC ENSG00000020577 tier1 - - 46 0 0.00 27 24 47.06 SASS6 0 genome.wustl.edu 37 1 100573416 100573416 + Nonsense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 100573416 100573416 G A SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known nonsense c.1006 p.Q336* 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 tier1 - - 37 0 0.00 20 6 23.08 SBF1 0 genome.wustl.edu 37 22 50894818 50894818 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 22 50894818 50894818 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.4093 p.R1365W 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 56 0 0.00 50 3 5.56 SCAMP1 0 genome.wustl.edu 37 5 77772628 77772628 + RNA DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 77772628 77772628 A - DEL SCAMP1 ENST00000320280 human ensembl 74_37 +1 known rna NULL NULL 0.109 - - - no_errors SCAMP1 HGNC ENSG00000085365 tier1 31 0 0.00 8 4 33.33 SDAD1P1 0 genome.wustl.edu 37 8 26237442 26237442 + RNA SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 8 26237442 26237442 G A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors SDAD1P1 HGNC ENSG00000228451 tier1 - - 86 0 0.00 72 5 6.49 SEMA6B 0 genome.wustl.edu 37 19 4552604 4552604 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 4552604 4552604 G T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.819 p.G273 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 100 0 0.00 72 4 5.26 SERPINF2 0 genome.wustl.edu 37 17 1651988 1651988 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 1651988 1651988 G A SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known missense c.812 p.R271H 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 tier1 rs144824741 - 38 0 0.00 19 7 26.92 SH3BGRL 0 genome.wustl.edu 37 X 80553062 80553062 + RNA SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 X 80553062 80553062 A C SNP SH3BGRL ENST00000463546 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SH3BGRL HGNC ENSG00000131171 tier1 - - 22 0 0.00 10 6 37.50 SHANK2 0 genome.wustl.edu 37 11 70507826 70507826 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 70507826 70507826 G A SNP SHANK2 ENST00000449833 human ensembl 74_37 -1 known missense c.47 p.T16M 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK2 HGNC ENSG00000162105 41 0 0.00 70 4 5.41 SIGLEC14 0 genome.wustl.edu 37 19 52147165 52147165 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 52147165 52147165 G T SNP SIGLEC14 ENST00000360844 human ensembl 74_37 -1 known silent c.879 p.L293 0.010 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC14 HGNC ENSG00000254415 tier1 - - 46 0 0.00 62 13 17.33 SIX3 0 genome.wustl.edu 37 2 45169387 45169387 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 45169387 45169387 C T SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known silent c.144 p.S48 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 22 0 0.00 8 3 27.27 SLAMF9 0 genome.wustl.edu 37 1 159923408 159923408 + Nonsense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 159923408 159923408 C A SNP SLAMF9 ENST00000368093 human ensembl 74_37 -1 known nonsense c.82 p.E28* 0.013 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF9 HGNC ENSG00000162723 34 0 0.00 34 3 8.11 SLC12A7 0 genome.wustl.edu 37 5 1065587 1065587 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 1065587 1065587 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.2248 p.R750W 0.987 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 52 0 0.00 33 11 25.00 SLC1A2 0 genome.wustl.edu 37 11 35308439 35308439 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 35308439 35308439 C T SNP SLC1A2 ENST00000278379 human ensembl 74_37 -1 known missense c.1151 p.R384H 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 tier1 - - 32 0 0.00 27 41 60.29 SLC22A14 0 genome.wustl.edu 37 3 38348012 38348012 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 38348012 38348012 G T SNP SLC22A14 ENST00000273173 human ensembl 74_37 +1 known missense c.495 p.K165N 0.001 pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 25 0 0.00 32 2 5.88 SLC26A8 0 genome.wustl.edu 37 6 35922931 35922931 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 35922931 35922931 G T SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.2230 p.Q744K 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 tier1 - - 41 0 0.00 50 4 7.41 SLC39A10 0 genome.wustl.edu 37 2 196548620 196548620 + Missense_Mutation SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 196548620 196548620 A G SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known missense c.1206 p.I402M 0.996 NULL pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 tier1 - - 52 0 0.00 44 4 8.33 SLC39A6 0 genome.wustl.edu 37 18 33706765 33706765 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 33706765 33706765 G T SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.206 p.S69Y 1.000 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 tier1 - - 79 0 0.00 33 23 41.07 SLC6A5 0 genome.wustl.edu 37 11 20623034 20623034 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 20623034 20623034 G T SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.363 p.K121N 0.998 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 tier1 - - 79 0 0.00 60 4 6.25 SLCO4C1 0 genome.wustl.edu 37 5 101572654 101572654 + Missense_Mutation SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 101572654 101572654 A G SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.2083 p.S695P 0.001 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 tier1 - - 79 0 0.00 50 4 7.41 SMARCA4 0 genome.wustl.edu 37 19 11137009 11137009 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 11137009 11137009 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3202 p.G1068S 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 63 0 0.00 12 27 69.23 SMIM1 0 genome.wustl.edu 37 1 3691977 3691977 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 3691977 3691977 G A SNP SMIM1 ENST00000561886 human ensembl 74_37 +1 putative missense c.40 p.E14K 0.196 NULL NULL - no_errors SMIM1 HGNC ENSG00000235169 tier1 - - 90 0 0.00 56 4 6.67 SNORD116-13 0 genome.wustl.edu 37 15 25324279 25324279 + RNA SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 15 25324279 25324279 T A SNP SNORD116-13 ENST00000384408 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-13 HGNC ENSG00000207137 tier1 - - 67 0 0.00 49 40 44.94 SPATA31A6 0 genome.wustl.edu 37 9 43626718 43626718 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 43626718 43626718 A C SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1969 p.F657V 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 274 0 0.00 70 57 44.53 SPECC1 0 genome.wustl.edu 37 17 20013849 20013849 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 20013849 20013849 C T SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.257 p.T86M 0.026 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 tier1 - - 26 0 0.00 8 9 52.94 SPRED1 0 genome.wustl.edu 37 15 38545288 38545288 + RNA DEL C C - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 15 38545288 38545288 C - DEL SPRED1 ENST00000561205 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPRED1 HGNC ENSG00000166068 tier1 38 0 0.00 30 2 6.25 SRCIN1 0 genome.wustl.edu 37 17 36701628 36701628 + RNA SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 36701628 36701628 G A SNP SRCIN1 ENST00000584491 human ensembl 74_37 -1 known rna NULL NULL 0.044 - - - no_errors SRCIN1 HGNC ENSG00000017373 tier1 - - 56 0 0.00 17 26 60.47 ST8SIA3 0 genome.wustl.edu 37 18 55021680 55021680 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 55021680 55021680 C T SNP ST8SIA3 ENST00000324000 human ensembl 74_37 +1 known missense c.227 p.T76M 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 tier1 - - 81 0 0.00 33 18 35.29 STAB1 0 genome.wustl.edu 37 3 52555008 52555008 + Silent SNP C C G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 3 52555008 52555008 C G SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.5895 p.G1965 0.825 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 53 0 0.00 28 2 6.67 STAM2 0 genome.wustl.edu 37 2 153000481 153000481 + Silent SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 153000481 153000481 T A SNP STAM2 ENST00000263904 human ensembl 74_37 -1 known silent c.564 p.T188 0.999 superfamily_SH3_domain pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 tier1 - - 52 0 0.00 33 4 10.81 STAM2 0 genome.wustl.edu 37 2 152977200 152977200 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 152977200 152977200 G T SNP STAM2 ENST00000263904 human ensembl 74_37 -1 known missense c.1466 p.S489Y 1.000 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 72 0 0.00 75 4 5.06 STAMBP 0 genome.wustl.edu 37 2 74071986 74071986 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 74071986 74071986 G T SNP STAMBP ENST00000339566 human ensembl 74_37 +1 known missense c.250 p.V84F 0.943 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBP HGNC ENSG00000124356 57 0 0.00 52 3 5.45 STK10 0 genome.wustl.edu 37 5 171479997 171479997 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 171479997 171479997 G T SNP STK10 ENST00000176763 human ensembl 74_37 -1 known missense c.2702 p.A901D 0.976 NULL pfam_PKK,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 STK10 HGNC ENSG00000072786 49 0 0.00 31 4 11.43 SYNE1 0 genome.wustl.edu 37 6 152652462 152652462 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 152652462 152652462 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.13358 p.S4453Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 23 0 0.00 25 2 7.41 SYNE2 0 genome.wustl.edu 37 14 64591825 64591825 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 14 64591825 64591825 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.13451 p.S4484I 0.931 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 64 0 0.00 67 4 5.48 TACC2 0 genome.wustl.edu 37 10 123846789 123846789 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 123846789 123846789 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.4774 p.D1592N 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 21 0 0.00 17 3 15.00 TAOK1 0 genome.wustl.edu 37 17 27805338 27805338 + Frame_Shift_Del DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 27805338 27805338 A - DEL TAOK1 ENST00000261716 human ensembl 74_37 +1 known frame_shift_del c.422 p.Y141fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 tier1 46 0 0.00 14 2 12.50 TBC1D3 0 genome.wustl.edu 37 17 36340138 36340138 + Silent SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 36340138 36340138 A G SNP TBC1D3 ENST00000354664 human ensembl 74_37 -1 known silent c.889 p.L297 0.353 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3 HGNC ENSG00000197681 tier1 - - 20 0 0.00 23 6 20.69 TCF4 0 genome.wustl.edu 37 18 53017629 53017632 + Frame_Shift_Del DEL TGTC TGTC - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 TGTC TGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 18 53017629 53017632 TGTC - DEL TCF4 ENST00000398339 human ensembl 74_37 -1 known frame_shift_del c.816_813 p.T272fs 1.000:1.000:1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 tier1 39 0 0.00 15 17 53.12 TCTN2 0 genome.wustl.edu 37 12 124171535 124171535 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 124171535 124171535 C T SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known silent c.717 p.S239 0.000 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 tier1 - - 65 0 0.00 30 30 50.00 TESK2 0 genome.wustl.edu 37 1 45813599 45813599 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 45813599 45813599 G T SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.614 p.P205H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 tier1 - - 50 0 0.00 52 4 7.14 TEX36 0 genome.wustl.edu 37 10 127350461 127350461 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 127350461 127350461 C T SNP TEX36 ENST00000368821 human ensembl 74_37 -1 known missense c.137 p.R46Q 0.000 NULL NULL - no_errors TEX36 HGNC ENSG00000175018 tier1 - - 96 0 0.00 36 42 53.85 TICAM2 0 genome.wustl.edu 37 5 114916264 114916264 + Silent SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 114916264 114916264 T C SNP TICAM2 ENST00000408996 human ensembl 74_37 -1 known silent c.1197 p.Q399 0.003 pfscan_TIR_dom pfam_GOLD,pfam_TIR_dom,superfamily_GOLD,superfamily_TIR_dom,pfscan_GOLD,pfscan_TIR_dom - no_errors TICAM2 HGNC ENSG00000243414 65 0 0.00 35 4 10.26 TIGD3 0 genome.wustl.edu 37 11 65124020 65124020 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 65124020 65124020 G T SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known missense c.741 p.L247F 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 72 0 0.00 57 4 6.56 TIGD6 0 genome.wustl.edu 37 5 149375696 149375696 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 149375696 149375696 G A SNP TIGD6 ENST00000296736 human ensembl 74_37 -1 known silent c.216 p.S72 0.047 superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 tier1 - - 38 0 0.00 18 10 35.71 TINAGL1 0 genome.wustl.edu 37 1 32049126 32049126 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 32049126 32049126 C T SNP TINAGL1 ENST00000271064 human ensembl 74_37 +1 known silent c.532 p.L178 1.000 NULL pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 tier1 - - 29 0 0.00 15 6 28.57 TLN1 0 genome.wustl.edu 37 9 35713962 35713962 + Silent SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 35713962 35713962 T C SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known silent c.3237 p.L1079 0.956 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 tier1 - - 56 0 0.00 59 27 31.40 TLR2 0 genome.wustl.edu 37 4 154625101 154625102 + Frame_Shift_Ins INS - - T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 154625101 154625102 - T INS TLR2 ENST00000260010 human ensembl 74_37 +1 known frame_shift_ins c.1042_1043 p.L350fs 1.000:0.986 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 tier1 59 0 0.00 23 7 23.33 TLR6 0 genome.wustl.edu 37 4 38829588 38829588 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 38829588 38829588 C T SNP TLR6 ENST00000381950 human ensembl 74_37 -1 known missense c.1507 p.D503N 0.469 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR6 HGNC ENSG00000174130 tier1 - - 74 0 0.00 17 14 45.16 TM9SF2 0 genome.wustl.edu 37 13 100193874 100193874 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 100193874 100193874 C T SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known missense c.970 p.R324W 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 61 0 0.00 25 2 7.41 TMBIM6 0 genome.wustl.edu 37 12 50149463 50149463 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 50149463 50149463 C A SNP TMBIM6 ENST00000423828 human ensembl 74_37 +1 known missense c.385 p.L129M 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM6 HGNC ENSG00000139644 72 0 0.00 76 6 7.32 TMEM117 0 genome.wustl.edu 37 12 44782039 44782039 + Nonsense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 44782039 44782039 G T SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known nonsense c.1129 p.G377* 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 90 0 0.00 69 4 5.48 TMEM184A 0 genome.wustl.edu 37 7 1585572 1585573 + RNA INS - - C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 1585572 1585573 - C INS TMEM184A ENST00000449955 human ensembl 74_37 -1 putative rna NULL NULL 0.028:0.028 - - - no_errors TMEM184A HGNC ENSG00000164855 tier1 14 0 0.00 12 2 14.29 TMEM196 0 genome.wustl.edu 37 7 19765275 19765275 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 19765275 19765275 G T SNP TMEM196 ENST00000405764 human ensembl 74_37 -1 known silent c.321 p.S107 1.000 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 90 0 0.00 75 4 5.06 TMEM79 0 genome.wustl.edu 37 1 156255725 156255725 + Silent SNP G G C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 156255725 156255725 G C SNP TMEM79 ENST00000295694 human ensembl 74_37 +1 known silent c.708 p.L236 0.227 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 tier1 - - 52 0 0.00 28 21 42.86 TMEM87A 0 genome.wustl.edu 37 15 42556331 42556331 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 15 42556331 42556331 G A SNP TMEM87A ENST00000389834 human ensembl 74_37 -1 known missense c.362 p.S121L 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 tier1 - - 57 0 0.00 9 40 81.63 TMTC1 0 genome.wustl.edu 37 12 29786082 29786082 + Nonsense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 29786082 29786082 T A SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known nonsense c.802 p.K268* 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 28 0 0.00 35 2 5.41 TP53 0 genome.wustl.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 17 7578403 7578403 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.527 p.C176F 1.000 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 - - 20 0 0.00 15 17 53.12 TP73-AS1 0 genome.wustl.edu 37 1 3659673 3659673 + RNA SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 3659673 3659673 G A SNP TP73-AS1 ENST00000418088 human ensembl 74_37 -1 known rna NULL NULL 0.054 - - - no_errors TP73-AS1 HGNC ENSG00000227372 tier1 - - 72 0 0.00 32 25 43.86 TPRX2P 0 genome.wustl.edu 37 19 48364079 48364079 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 48364079 48364079 C T SNP TPRX2P ENST00000535362 human ensembl 74_37 +1 known silent c.291 p.R97 0.185 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX2P HGNC ENSG00000259009 tier1 - - 92 0 0.00 140 22 13.58 TRA2A 0 genome.wustl.edu 37 7 23571455 23571455 + RNA SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 23571455 23571455 G A SNP TRA2A ENST00000490942 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors TRA2A HGNC ENSG00000164548 tier1 - - 108 0 0.00 90 22 19.64 TRERF1 0 genome.wustl.edu 37 6 42211039 42211039 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 42211039 42211039 G T SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known silent c.2866 p.R956 1.000 superfamily_Homeodomain-like pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 65 0 0.00 37 3 7.50 TRIM67 0 genome.wustl.edu 37 1 231339687 231339687 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 1 231339687 231339687 C T SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.1609 p.P537S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 72 0 0.00 97 6 5.83 TRIM68 0 genome.wustl.edu 37 11 4621685 4621685 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 4621685 4621685 C T SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.1279 p.V427M 0.999 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 28 0 0.00 33 2 5.71 TRPC4 0 genome.wustl.edu 37 13 38237745 38237745 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 13 38237745 38237745 T C SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.1496 p.N499S 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 tier1 - - 39 0 0.00 19 12 38.71 TRPC6 0 genome.wustl.edu 37 11 101353851 101353851 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 101353851 101353851 C T SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.1339 p.A447T 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 65 0 0.00 54 3 5.26 TSC2 0 genome.wustl.edu 37 16 2136353 2136353 + Missense_Mutation SNP T T C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 16 2136353 2136353 T C SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.4822 p.Y1608H 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 24 0 0.00 25 2 7.41 TTC40 0 genome.wustl.edu 37 10 134740158 134740158 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 10 134740158 134740158 G T SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.979 p.L327I 0.960 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 43 0 0.00 30 4 11.76 TTN 0 genome.wustl.edu 37 2 179397111 179397111 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 179397111 179397111 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.96527 p.A32176E 0.930 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 67 0 0.00 51 4 7.14 TTN 0 genome.wustl.edu 37 2 179424743 179424743 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 179424743 179424743 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.78412 p.R26138 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 24 0 0.00 19 2 9.52 TTN 0 genome.wustl.edu 37 2 179476867 179476867 + Silent SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 179476867 179476867 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.42567 p.A14189 0.819 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 71 0 0.00 38 4 9.52 TTN 0 genome.wustl.edu 37 2 179588783 179588783 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 179588783 179588783 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.17471 p.A5824D 0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 20 0 0.00 27 4 12.90 TYMP 0 genome.wustl.edu 37 22 50967742 50967742 + Frame_Shift_Del DEL A A - TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 22 50967742 50967742 A - DEL TYMP ENST00000252029 human ensembl 74_37 -1 known frame_shift_del c.240 p.R81fs 0.353 pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 tier1 71 0 0.00 29 26 47.27 TYRP1 0 genome.wustl.edu 37 9 12704581 12704581 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 12704581 12704581 G T SNP TYRP1 ENST00000388918 human ensembl 74_37 +1 known missense c.1137 p.L379F 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 tier1 - - 91 0 0.00 64 4 5.88 UQCC1 0 genome.wustl.edu 37 20 33891796 33891796 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 20 33891796 33891796 T G SNP UQCC1 ENST00000374385 human ensembl 74_37 -1 known missense c.842 p.K281T 1.000 NULL pfam_Ubiq_cyt_c_chap/UPF0174 - no_errors UQCC1 HGNC ENSG00000101019 tier1 - - 58 0 0.00 81 11 11.96 VPS13C 0 genome.wustl.edu 37 15 62238035 62238035 + Missense_Mutation SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 15 62238035 62238035 A G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.5027 p.L1676P 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 64 0 0.00 72 4 5.26 XIRP2 0 genome.wustl.edu 37 2 168115788 168115788 + Nonsense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 168115788 168115788 T A SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known nonsense c.2831 p.L944* 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 31 0 0.00 21 3 12.50 YTHDF3 0 genome.wustl.edu 37 8 64124994 64124995 + RNA INS - - A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 8 64124994 64124995 - A INS YTHDF3 ENST00000521674 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors YTHDF3 HGNC ENSG00000185728 tier1 62 0 0.00 24 2 7.69 ZCCHC5 0 genome.wustl.edu 37 X 77913424 77913424 + Missense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 X 77913424 77913424 T A SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.494 p.E165V 0.002 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 15 0 0.00 11 15 57.69 ZDHHC11B 0 genome.wustl.edu 37 5 712139 712139 + RNA SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 712139 712139 T A SNP ZDHHC11B ENST00000522356 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 rs111351502 - 20 0 0.00 12 4 25.00 ZFAND5 0 genome.wustl.edu 37 9 74975126 74975126 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 9 74975126 74975126 C A SNP ZFAND5 ENST00000237937 human ensembl 74_37 -1 known missense c.163 p.G55C 1.000 NULL pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND5 HGNC ENSG00000107372 tier1 - - 27 0 0.00 9 8 47.06 ZNF155 0 genome.wustl.edu 37 19 44501597 44501597 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 44501597 44501597 C T SNP ZNF155 ENST00000270014 human ensembl 74_37 +1 known missense c.1588 p.L530F 0.002 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 ZNF155 HGNC ENSG00000204920 tier1 - - 42 0 0.00 32 11 25.58 ZNF408 0 genome.wustl.edu 37 11 46726399 46726399 + Missense_Mutation SNP C C G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 11 46726399 46726399 C G SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.1149 p.C383W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 tier1 - - 43 0 0.00 52 9 14.75 ZNF420 0 genome.wustl.edu 37 19 37618367 37618367 + Silent SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 37618367 37618367 A G SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known silent c.474 p.Q158 0.745 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 ZNF420 HGNC ENSG00000197050 tier1 - - 52 0 0.00 28 32 53.33 ZNF420 0 genome.wustl.edu 37 19 37618622 37618622 + Missense_Mutation SNP A A C TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 37618622 37618622 A C SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known missense c.729 p.K243N 0.223 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 ZNF420 HGNC ENSG00000197050 tier1 - - 61 0 0.00 55 24 30.38 ZNF420 0 genome.wustl.edu 37 19 37619335 37619335 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 37619335 37619335 G T SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known missense c.1442 p.G481V 0.991 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 ZNF420 HGNC ENSG00000197050 tier1 - - 70 0 0.00 78 29 27.10 ZNF454 0 genome.wustl.edu 37 5 178392572 178392572 + Nonsense_Mutation SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 5 178392572 178392572 T A SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known nonsense c.1167 p.C389* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 28 0 0.00 33 2 5.71 ZNF607 0 genome.wustl.edu 37 19 38190112 38190112 + Missense_Mutation SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 38190112 38190112 T G SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.920 p.K307T 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 ZNF607 HGNC ENSG00000198182 tier1 - - 68 0 0.00 35 51 59.30 ZNF625 0 genome.wustl.edu 37 19 12256139 12256139 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 12256139 12256139 C T SNP ZNF625 ENST00000439556 human ensembl 74_37 -1 known silent c.1092 p.S364 0.038 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 ZNF625 HGNC ENSG00000257591 tier1 rs115447016 - 108 0 0.00 29 52 64.20 ZNF638 0 genome.wustl.edu 37 2 71503810 71503810 + RNA SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 71503810 71503810 G A SNP ZNF638 ENST00000410075 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF638 HGNC ENSG00000075292 tier1 - - 10 0 0.00 1 4 80.00 ZNF676 0 genome.wustl.edu 37 19 22363520 22363520 + Silent SNP T T G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 22363520 22363520 T G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.999 p.G333 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 96 0 0.00 67 14 17.28 ZNF676 0 genome.wustl.edu 37 19 22363526 22363526 + Silent SNP A A G TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 22363526 22363526 A G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.993 p.H331 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 102 0 0.00 67 14 17.28 ZNF721 0 genome.wustl.edu 37 4 437306 437306 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 4 437306 437306 G T SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.950 p.S317Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 tier1 - - 83 0 0.00 22 13 37.14 ZNF800 0 genome.wustl.edu 37 7 127013999 127013999 + Missense_Mutation SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 7 127013999 127013999 G A SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known missense c.1391 p.S464L 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 tier1 - - 47 0 0.00 28 9 24.32 ZNF804A 0 genome.wustl.edu 37 2 185801997 185801997 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 2 185801997 185801997 G T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1874 p.S625I 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 55 0 0.00 44 4 8.33 ZNF850 0 genome.wustl.edu 37 19 37239048 37239048 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 37239048 37239048 C T SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.2894 p.R965H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ENSG00000267041 tier1 - - 61 0 0.00 64 4 5.88 ZNF891 0 genome.wustl.edu 37 12 133698247 133698247 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 12 133698247 133698247 C A SNP ZNF891 ENST00000397313 human ensembl 74_37 -1 known missense c.258 p.L86F 0.000 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 ZNF891 HGNC ENSG00000214029 tier1 - - 87 0 0.00 41 15 26.79 ZNRF4 0 genome.wustl.edu 37 19 5455606 5455606 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 5455606 5455606 C T SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.104 p.S35L 0.001 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 tier1 - - 85 0 0.00 18 27 60.00 ZSCAN1 0 genome.wustl.edu 37 19 58551837 58551837 + Silent SNP G G A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 58551837 58551837 G A SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.390 p.S130 0.088 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 tier1 rs143428215 - 73 0 0.00 89 22 19.82 ZSCAN1 0 genome.wustl.edu 37 19 58565407 58565407 + Silent SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 19 58565407 58565407 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.1215 p.H405 0.022 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 tier1 - - 44 0 0.00 39 14 26.42 ZSCAN9 0 genome.wustl.edu 37 6 28200715 28200715 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 370d63ba-ca43-476e-95e4-77d91bb19934 f3654dd1-89bb-48df-ac30-c7a2e12c32e7 6 28200715 28200715 G T SNP ZSCAN9 ENST00000252207 human ensembl 74_37 +1 known missense c.944 p.C315F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN9 HGNC ENSG00000137185 tier1 - - 41 0 0.00 22 13 37.14