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 ABCA2 0 genome.wustl.edu 37 9 139903009 139903009 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 139903009 139903009 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known silent c.7134 p.S2378 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 80 0 0.00 86 8 8.51 ABLIM2 0 genome.wustl.edu 37 4 8108335 8108335 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 8108335 8108335 G A SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known silent c.40 p.L14 0.842 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 52 0 0.00 46 4 8.00 ACTBL2 0 genome.wustl.edu 37 5 56778214 56778214 + Silent SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 56778214 56778214 G T SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known silent c.321 p.T107 0.097 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 39 0 0.00 53 3 5.36 ADAMTS16 0 genome.wustl.edu 37 5 5242188 5242188 + Missense_Mutation SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 5242188 5242188 C A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2546 p.P849Q 0.993 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 82 0 0.00 29 73 71.57 ADCY8 0 genome.wustl.edu 37 8 132051794 132051794 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 132051794 132051794 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.786 p.L262 0.304 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 57 0 0.00 62 19 23.46 AFG3L2 0 genome.wustl.edu 37 18 12371665 12371665 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 18 12371665 12371665 G T SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known missense c.140 p.A47E 0.000 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 tier1 - - 51 0 0.00 62 4 6.06 AHCYL2 0 genome.wustl.edu 37 7 129040214 129040214 + Nonsense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 129040214 129040214 C T SNP AHCYL2 ENST00000325006 human ensembl 74_37 +1 known nonsense c.907 p.Q303* 1.000 pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 tier1 - - 97 0 0.00 91 5 5.21 AKAP13 0 genome.wustl.edu 37 15 86064675 86064675 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 15 86064675 86064675 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.50 p.T17I 0.910 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 86 0 0.00 73 4 5.19 AKR1CL1 0 genome.wustl.edu 37 10 5200895 5200895 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 5200895 5200895 G T SNP AKR1CL1 ENST00000473890 human ensembl 74_37 -1 novel missense c.67 p.P23T 0.572 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 79 0 0.00 75 4 5.06 AKT3 0 genome.wustl.edu 37 1 243801021 243801021 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 243801021 243801021 C T SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known silent c.453 p.L151 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_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 tier1 - - 111 0 0.00 55 14 20.29 AMY2B 0 genome.wustl.edu 37 1 104118398 104118399 + RNA INS - - A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 104118398 104118399 - A INS AMY2B ENST00000462971 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.005 - - - no_errors AMY2B HGNC ENSG00000240038 tier1 14 0 0.00 21 2 8.70 ANO1 0 genome.wustl.edu 37 11 70028614 70028614 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 70028614 70028614 G T SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.2410 p.V804L 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 tier1 - - 49 0 0.00 13 23 63.89 AOC3 0 genome.wustl.edu 37 17 41004727 41004727 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 41004727 41004727 C T SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.1367 p.A456V 0.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 tier1 - - 79 0 0.00 44 32 42.11 AP1M1 0 genome.wustl.edu 37 19 16318830 16318830 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 16318830 16318830 G A SNP AP1M1 ENST00000444449 human ensembl 74_37 +1 known missense c.268 p.V90M 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 tier1 - - 48 0 0.00 65 4 5.80 APOBEC4 0 genome.wustl.edu 37 1 183617423 183617423 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 183617423 183617423 G T SNP APOBEC4 ENST00000308641 human ensembl 74_37 -1 known missense c.494 p.P165H 0.996 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC ENSG00000173627 tier1 - - 42 0 0.00 42 4 8.70 ARAF 0 genome.wustl.edu 37 X 47426444 47426444 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc X 47426444 47426444 G A SNP ARAF ENST00000377045 human ensembl 74_37 +1 known missense c.787 p.V263M 0.002 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 tier1 - - 44 0 0.00 47 4 7.69 ARHGAP21 0 genome.wustl.edu 37 10 24886431 24886431 + Missense_Mutation SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 24886431 24886431 C A SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.3279 p.K1093N 0.593 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 95 0 0.00 66 17 20.48 ARHGAP40 0 genome.wustl.edu 37 20 37267426 37267426 + Missense_Mutation SNP G G C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 20 37267426 37267426 G C SNP ARHGAP40 ENST00000373345 human ensembl 74_37 +1 known missense c.905 p.R302T 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP40 HGNC ENSG00000124143 tier1 - - 118 0 0.00 94 34 26.56 ARHGAP5 0 genome.wustl.edu 37 14 32623994 32623994 + Missense_Mutation SNP A A G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 14 32623994 32623994 A G SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.4349 p.Y1450C 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 88 0 0.00 72 4 5.26 ARSJ 0 genome.wustl.edu 37 4 114899598 114899598 + Silent SNP A A G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 114899598 114899598 A G SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known silent c.393 p.T131 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 tier1 - - 93 0 0.00 58 5 7.94 ASRGL1 0 genome.wustl.edu 37 11 62159024 62159024 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 62159024 62159024 G A SNP ASRGL1 ENST00000301776 human ensembl 74_37 +1 known missense c.641 p.G214E 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors ASRGL1 HGNC ENSG00000162174 tier1 - - 30 0 0.00 9 15 62.50 ATAD2 0 genome.wustl.edu 37 8 124392780 124392780 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 124392780 124392780 C T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.309 p.R103 0.997 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 - - 62 0 0.00 81 5 5.81 ATP10B 0 genome.wustl.edu 37 5 160018126 160018126 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 160018126 160018126 G T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.3585 p.F1195L 1.000 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 ATP10B HGNC ENSG00000118322 tier1 - - 49 0 0.00 47 4 7.84 ATP13A5 0 genome.wustl.edu 37 3 193082019 193082019 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 193082019 193082019 G A SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known silent c.114 p.V38 0.000 pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 tier1 - - 60 0 0.00 54 25 31.25 ATP1A4 0 genome.wustl.edu 37 1 160143923 160143923 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 160143923 160143923 C T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.2014 p.H672Y 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 tier1 - - 53 0 0.00 36 4 10.00 ATP8B3 0 genome.wustl.edu 37 19 1799764 1799764 + Frame_Shift_Del DEL A A - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 1799764 1799764 A - DEL ATP8B3 ENST00000526092 human ensembl 74_37 -1 putative frame_shift_del c.1575 p.F525fs 0.016 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom - no_errors ATP8B3 HGNC ENSG00000130270 tier1 34 0 0.00 21 4 16.00 BAZ2B 0 genome.wustl.edu 37 2 160205695 160205695 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 160205695 160205695 G T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.4960 p.L1654I 0.987 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 33 0 0.00 32 2 5.88 BMP15 0 genome.wustl.edu 37 X 50659106 50659106 + Silent SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc X 50659106 50659106 C A SNP BMP15 ENST00000252677 human ensembl 74_37 +1 known silent c.678 p.S226 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 tier1 - - 49 0 0.00 18 28 60.87 BNC1 0 genome.wustl.edu 37 15 83933212 83933212 + Missense_Mutation SNP T T G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 15 83933212 83933212 T G SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.791 p.Y264S 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 109 0 0.00 35 29 45.31 BSN 0 genome.wustl.edu 37 3 49690024 49690024 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 49690024 49690024 G T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.3035 p.R1012L 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 43 0 0.00 33 17 34.00 BTN3A1 0 genome.wustl.edu 37 6 26412944 26412944 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 26412944 26412944 C T SNP BTN3A1 ENST00000476549 human ensembl 74_37 +1 known missense c.1030 p.L344F 0.060 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 tier1 - - 71 0 0.00 31 28 47.46 C11orf45 0 genome.wustl.edu 37 11 128772514 128772514 + Nonsense_Mutation SNP T T A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 128772514 128772514 T A SNP C11orf45 ENST00000310799 human ensembl 74_37 -1 known nonsense c.376 p.R126* 0.001 NULL NULL - no_errors C11orf45 HGNC ENSG00000174370 tier1 - - 36 0 0.00 48 4 7.69 C12orf55 0 genome.wustl.edu 37 12 96927722 96927723 + In_Frame_Ins INS - - CTG TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 96927722 96927723 - CTG INS C12orf55 ENST00000524981 human ensembl 74_37 +1 putative in_frame_ins c.1510_1511 p.506in_frame_insA 0.000:0.015 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 58 0 0.00 52 13 20.00 C1QTNF1 0 genome.wustl.edu 37 17 77042652 77042652 + Missense_Mutation SNP T T A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 77042652 77042652 T A SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.201 p.H67Q 0.001 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 59 0 0.00 76 4 5.00 C1QTNF1 0 genome.wustl.edu 37 17 77043850 77043850 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 77043850 77043850 G A SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.556 p.D186N 0.364 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 60 0 0.00 81 5 5.81 C1orf127 0 genome.wustl.edu 37 1 11015170 11015171 + Frame_Shift_Ins INS - - GAAC TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 11015170 11015171 - GAAC INS C1orf127 ENST00000377004 human ensembl 74_37 -1 known frame_shift_ins c.852_851 p.Y285fs 0.000:0.000 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 tier1 42 0 0.00 42 7 14.29 C1orf167 0 genome.wustl.edu 37 1 11838983 11838983 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 11838983 11838983 G T SNP C1orf167 ENST00000433342 human ensembl 74_37 +1 known missense c.2569 p.V857F 0.105 NULL NULL - no_errors C1orf167 HGNC ENSG00000215910 tier1 - - 176 0 0.00 135 22 13.92 C2orf71 0 genome.wustl.edu 37 2 29295183 29295183 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 29295183 29295183 C T SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.1945 p.V649M 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 44 0 0.00 34 3 8.11 C8B 0 genome.wustl.edu 37 1 57415411 57415411 + Nonsense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 57415411 57415411 G T SNP C8B ENST00000371237 human ensembl 74_37 -1 known nonsense c.681 p.Y227* 0.996 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 tier1 - - 60 0 0.00 51 4 7.27 CACNA1E 0 genome.wustl.edu 37 1 181750615 181750615 + Missense_Mutation SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 181750615 181750615 C A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.5320 p.P1774T 1.000 pfscan_EF_hand_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 66 0 0.00 36 14 28.00 CACNA1I 0 genome.wustl.edu 37 22 40037141 40037141 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 22 40037141 40037141 C T SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.1010 p.A337V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 tier1 - - 40 0 0.00 40 4 8.89 CACNA2D4 0 genome.wustl.edu 37 12 1993438 1993438 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 1993438 1993438 C T SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.1322 p.R441H 0.789 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 - - 80 0 0.00 69 4 5.48 CCAR1 0 genome.wustl.edu 37 10 70482290 70482290 + Missense_Mutation SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 70482290 70482290 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.29 p.P10Q 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 tier1 - - 73 0 0.00 75 4 5.06 CCDC102A 0 genome.wustl.edu 37 16 57559951 57559951 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 57559951 57559951 G A SNP CCDC102A ENST00000258214 human ensembl 74_37 -1 known missense c.674 p.P225L 0.000 NULL NULL - no_errors CCDC102A HGNC ENSG00000135736 tier1 - - 56 0 0.00 45 15 25.00 CCDC170 0 genome.wustl.edu 37 6 151894421 151894421 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 151894421 151894421 G T SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.887 p.S296I 0.020 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 tier1 - - 76 0 0.00 74 4 5.13 CCDC180 0 genome.wustl.edu 37 9 100077199 100077199 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 100077199 100077199 G T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.898 p.V300L 0.726 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 - - 46 0 0.00 47 4 7.69 CCDC3 0 genome.wustl.edu 37 10 12940592 12940592 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 12940592 12940592 G T SNP CCDC3 ENST00000378825 human ensembl 74_37 -1 known missense c.637 p.R213S 0.997 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 tier1 - - 44 0 0.00 18 4 18.18 CCDC64B 0 genome.wustl.edu 37 16 3078433 3078433 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 3078433 3078433 C T SNP CCDC64B ENST00000389347 human ensembl 74_37 -1 known silent c.1275 p.S425 0.954 NULL superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC ENSG00000162069 tier1 - - 13 0 0.00 1 5 83.33 CDK5RAP3 0 genome.wustl.edu 37 17 46051389 46051389 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 46051389 46051389 C T SNP CDK5RAP3 ENST00000338399 human ensembl 74_37 +1 known missense c.277 p.R93W 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 tier1 - - 31 0 0.00 54 5 8.47 CENPV 0 genome.wustl.edu 37 17 16256469 16256471 + In_Frame_Del DEL CGG CGG - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 16256469 16256471 CGG - DEL CENPV ENST00000299736 human ensembl 74_37 -1 known in_frame_del c.282_280 p.P94in_frame_del 0.235:0.239:0.231 NULL pfam_GFA/CENP-V,superfamily_Mss4-like - no_errors CENPV HGNC ENSG00000166582 tier1 23 0 0.00 14 2 12.50 CGN 0 genome.wustl.edu 37 1 151506465 151506465 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 151506465 151506465 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known silent c.2757 p.R919 1.000 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 tier1 - - 54 0 0.00 55 5 8.33 CHFR 0 genome.wustl.edu 37 12 133438075 133438075 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 133438075 133438075 G A SNP CHFR ENST00000266880 human ensembl 74_37 -1 known silent c.765 p.P255 0.007 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 tier1 - - 100 0 0.00 70 48 40.68 CHML 0 genome.wustl.edu 37 1 241798619 241798619 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 241798619 241798619 G T SNP CHML ENST00000366553 human ensembl 74_37 -1 known missense c.450 p.S150R 0.000 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 51 0 0.00 43 3 6.52 CILP 0 genome.wustl.edu 37 15 65491165 65491165 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 15 65491165 65491165 C T SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.1459 p.E487K 0.998 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 50 0 0.00 34 4 10.53 CNTN2 0 genome.wustl.edu 37 1 205033765 205033765 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 205033765 205033765 C T SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.1406 p.P469L 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 46 0 0.00 19 2 9.52 CNTNAP3B 0 genome.wustl.edu 37 9 43915463 43915463 + Silent SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 43915463 43915463 G T SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known silent c.3546 p.A1182 0.975 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 tier1 - - 16 0 0.00 14 5 26.32 CPNE2 0 genome.wustl.edu 37 16 57153173 57153173 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 57153173 57153173 C T SNP CPNE2 ENST00000290776 human ensembl 74_37 +1 known silent c.574 p.L192 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE2 HGNC ENSG00000140848 tier1 - - 57 0 0.00 87 5 5.43 CPQ 0 genome.wustl.edu 37 8 98155409 98155409 + Nonstop_Mutation SNP T T C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 98155409 98155409 T C SNP CPQ ENST00000220763 human ensembl 74_37 +1 known nonstop c.1417 p.*473Q 0.147 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 tier1 - - 126 0 0.00 99 42 29.79 CSGALNACT1 0 genome.wustl.edu 37 8 19315123 19315124 + RNA INS - - A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 19315123 19315124 - A INS CSGALNACT1 ENST00000518542 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.009 - - - no_errors CSGALNACT1 HGNC ENSG00000147408 tier1 11 0 0.00 9 3 25.00 CTNNA1 0 genome.wustl.edu 37 5 138261083 138261083 + Missense_Mutation SNP T T A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 138261083 138261083 T A SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.1886 p.V629E 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 tier1 - - 68 0 0.00 37 4 9.76 CTTNBP2NL 0 genome.wustl.edu 37 1 112958899 112958899 + RNA DEL A A - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 112958899 112958899 A - DEL CTTNBP2NL ENST00000502356 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTTNBP2NL HGNC ENSG00000143079 tier1 34 0 0.00 35 7 16.67 CXXC11 0 genome.wustl.edu 37 2 242815165 242815165 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 242815165 242815165 C T SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known silent c.1458 p.G486 0.001 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 tier1 - - 99 0 0.00 85 22 20.56 CXorf30 0 genome.wustl.edu 37 X 36324886 36324886 + Splice_Site SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc X 36324886 36324886 G T SNP CXorf30 ENST00000378657 human ensembl 74_37 +1 known splice_site c.421-1 e5-1 0.625 - - - no_errors CXorf30 HGNC ENSG00000205081 28 0 0.00 65 4 5.80 DAGLB 0 genome.wustl.edu 37 7 6464413 6464413 + Silent SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 6464413 6464413 C A SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known silent c.1110 p.V370 1.000 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 tier1 - - 31 0 0.00 30 4 11.76 DAPP1 0 genome.wustl.edu 37 4 100774455 100774455 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 100774455 100774455 G T SNP DAPP1 ENST00000512369 human ensembl 74_37 +1 known missense c.439 p.A147S 0.999 NULL pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC ENSG00000070190 69 0 0.00 55 3 5.17 DCLK3 0 genome.wustl.edu 37 3 36779753 36779753 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 36779753 36779753 G A SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.398 p.S133L 0.068 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 DCLK3 HGNC ENSG00000163673 tier1 rs201773927 - 58 0 0.00 32 17 34.69 DENND2A 0 genome.wustl.edu 37 7 140269504 140269504 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 140269504 140269504 C T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1481 p.R494Q 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 77 0 0.00 77 5 6.10 DHX32 0 genome.wustl.edu 37 10 127555659 127555659 + Missense_Mutation SNP G G C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 127555659 127555659 G C SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.376 p.L126V 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 72 0 0.00 45 4 8.16 DMAP1 0 genome.wustl.edu 37 1 44680151 44680151 + RNA SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 44680151 44680151 C T SNP DMAP1 ENST00000463950 human ensembl 74_37 +1 known rna NULL NULL 0.056 - - - no_errors DMAP1 HGNC ENSG00000178028 tier1 - - 117 0 0.00 86 18 17.31 DMD 0 genome.wustl.edu 37 X 31341748 31341748 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc X 31341748 31341748 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.9191 p.A3064V 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pirsf_Dystrophin/utrophin,pfscan_WW_dom 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 - - 66 0 0.00 67 4 5.63 DNAH10 0 genome.wustl.edu 37 12 124337760 124337760 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 124337760 124337760 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.5945 p.A1982V 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 100 0 0.00 74 38 33.93 DNAJC24 0 genome.wustl.edu 37 11 31436406 31436406 + Nonsense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 31436406 31436406 G T SNP DNAJC24 ENST00000465995 human ensembl 74_37 +1 known nonsense c.160 p.E54* 0.997 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,pfam_Znf_DHP,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_Znf_DHP,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC24 HGNC ENSG00000170946 tier1 - - 63 0 0.00 63 28 30.77 DOCK4 0 genome.wustl.edu 37 7 111407142 111407142 + Missense_Mutation SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 111407142 111407142 C A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.3861 p.K1287N 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 50 0 0.00 25 5 16.67 DPY19L2 0 genome.wustl.edu 37 12 63963039 63963040 + Frame_Shift_Del DEL AT AT - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 63963039 63963040 AT - DEL DPY19L2 ENST00000324472 human ensembl 74_37 -1 known frame_shift_del c.2091_2090 p.Y697fs 0.987:0.997 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 tier1 172 0 0.00 149 50 25.13 DTNA 0 genome.wustl.edu 37 18 32431858 32431858 + Missense_Mutation SNP A A T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 18 32431858 32431858 A T SNP DTNA ENST00000269190 human ensembl 74_37 +1 known missense c.1420 p.R474W 0.999 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 tier1 - - 49 0 0.00 21 4 16.00 DYSF 0 genome.wustl.edu 37 2 71766292 71766292 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 71766292 71766292 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.1496 p.R499H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 65 0 0.00 48 3 5.88 EGFLAM 0 genome.wustl.edu 37 5 38258922 38258922 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 38258922 38258922 G A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known silent c.66 p.A22 0.000 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 - - 72 0 0.00 55 8 12.70 EHBP1L1 0 genome.wustl.edu 37 11 65343817 65343817 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 65343817 65343817 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.44 p.A15V 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 tier1 - - 97 0 0.00 59 4 6.35 ELFN2 0 genome.wustl.edu 37 22 37769599 37769599 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 22 37769599 37769599 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1976 p.G659D 0.595 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 tier1 - - 28 0 0.00 5 9 64.29 ELMO3 0 genome.wustl.edu 37 16 67236656 67236656 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 67236656 67236656 C T SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known missense c.1684 p.R562W 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 tier1 - - 54 0 0.00 78 5 6.02 ELP4 0 genome.wustl.edu 37 11 31616371 31616371 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 31616371 31616371 G A SNP ELP4 ENST00000395934 human ensembl 74_37 +1 known missense c.436 p.V146I 0.000 pfam_Elongator_complex_protein_4 pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase - no_errors ELP4 HGNC ENSG00000109911 tier1 - - 62 0 0.00 39 17 30.36 ENSG00000188850 0 genome.wustl.edu 37 5 43348817 43348817 + RNA DEL A A - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 43348817 43348817 A - DEL ENSG00000188850 ENST00000511991 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-159F24.2 Clone_based_vega_gene ENSG00000188850 tier1 19 0 0.00 17 3 15.00 ENSG00000222031 0 genome.wustl.edu 37 2 151900307 151900307 + Nonsense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 151900307 151900307 G A SNP ENSG00000222031 ENST00000409243 human ensembl 74_37 -1 putative nonsense c.106 p.Q36* 0.040 NULL NULL - no_errors AC023469.1 Clone_based_vega_gene ENSG00000222031 tier1 - - 54 0 0.00 51 12 19.05 ENSG00000225411 0 genome.wustl.edu 37 9 68400475 68400475 + RNA SNP T T G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 68400475 68400475 T G SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 rs75317582 - 17 0 0.00 13 7 35.00 ENSG00000225411 0 genome.wustl.edu 37 9 68400495 68400495 + RNA SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 68400495 68400495 C T SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.113 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 - - 16 0 0.00 13 5 27.78 ENSG00000232274 0 genome.wustl.edu 37 1 143189125 143189125 + RNA SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 143189125 143189125 G A SNP ENSG00000232274 ENST00000447389 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs201126579 - 18 0 0.00 13 5 27.78 ENSG00000241956 0 genome.wustl.edu 37 5 164028110 164028110 + RNA SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 164028110 164028110 G A SNP ENSG00000241956 ENST00000486913 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors CTC-340A15.2 Clone_based_vega_gene ENSG00000241956 tier1 - - 119 0 0.00 42 43 50.59 ENSG00000258856 0 genome.wustl.edu 37 14 58097159 58097159 + RNA SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 14 58097159 58097159 C T SNP ENSG00000258856 ENST00000600311 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors CTD-2325K12.1 Clone_based_vega_gene ENSG00000258856 tier1 - - 29 0 0.00 27 13 32.50 ENSG00000263404 0 genome.wustl.edu 37 9 84420936 84420937 + RNA INS - - G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 84420936 84420937 - G INS ENSG00000263404 ENST00000581036 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.001 - - - no_errors AL158154.1 Clone_based_ensembl_gene ENSG00000263404 tier1 23 0 0.00 14 3 17.65 ENSG00000266248 0 genome.wustl.edu 37 19 30017607 30017607 + RNA DEL G G - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 30017607 30017607 G - DEL ENSG00000266248 ENST00000579268 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors CTC-525D6.2 Clone_based_vega_gene ENSG00000266248 tier1 55 0 0.00 31 4 11.43 ENSG00000268864 0 genome.wustl.edu 37 19 54105311 54105311 + Missense_Mutation SNP A A C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 54105311 54105311 A C SNP ENSG00000268864 ENST00000600193 human ensembl 74_37 -1 putative missense c.145 p.C49G 0.000 NULL NULL - no_errors CTB-167G5.5 Clone_based_vega_gene ENSG00000268864 tier1 - - 33 0 0.00 31 18 36.73 ENTHD2 0 genome.wustl.edu 37 17 79210792 79210792 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 79210792 79210792 G A SNP ENTHD2 ENST00000300714 human ensembl 74_37 -1 known silent c.201 p.H67 0.792 pfam_Epsin_dom_N,superfamily_ENTH_VHS pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 tier1 - - 105 0 0.00 86 47 35.34 ENTPD1-AS1 0 genome.wustl.edu 37 10 97515948 97515948 + RNA SNP T T G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 97515948 97515948 T G SNP ENTPD1-AS1 ENST00000416301 human ensembl 74_37 -1 known rna NULL NULL 0.969 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 72 0 0.00 67 5 6.94 EXPH5 0 genome.wustl.edu 37 11 108382592 108382592 + Nonsense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 108382592 108382592 G T SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known nonsense c.3642 p.C1214* 0.044 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 76 0 0.00 59 4 6.35 EYS 0 genome.wustl.edu 37 6 65300723 65300723 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 65300723 65300723 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.5037 p.M1679I 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 36 0 0.00 30 2 6.25 FAM110B 0 genome.wustl.edu 37 8 59059539 59059539 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 59059539 59059539 C T SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known silent c.750 p.V250 0.999 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 tier1 - - 42 0 0.00 32 12 27.27 FAM131B 0 genome.wustl.edu 37 7 143054514 143054514 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 143054514 143054514 C T SNP FAM131B ENST00000443739 human ensembl 74_37 -1 known missense c.469 p.V157I 0.993 NULL NULL - no_errors FAM131B HGNC ENSG00000159784 tier1 - - 49 0 0.00 39 15 27.78 FAM182A 0 genome.wustl.edu 37 20 26063533 26063533 + RNA SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 20 26063533 26063533 G A SNP FAM182A ENST00000376398 human ensembl 74_37 +1 known rna NULL NULL 0.092 - - - no_errors FAM182A HGNC ENSG00000125804 tier1 - - 21 0 0.00 29 7 19.44 FBLN2 0 genome.wustl.edu 37 3 13671357 13671357 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 13671357 13671357 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known silent c.2880 p.C960 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 - - 82 0 0.00 75 5 6.17 FBXO42 0 genome.wustl.edu 37 1 16632345 16632345 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 16632345 16632345 C T SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known missense c.320 p.R107H 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 tier1 - - 53 0 0.00 44 4 8.33 FDX1L 0 genome.wustl.edu 37 19 10421305 10421305 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 10421305 10421305 G A SNP FDX1L ENST00000393708 human ensembl 74_37 -1 known silent c.409 p.L137 1.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin - no_errors FDX1L HGNC ENSG00000267673 tier1 - - 54 0 0.00 60 4 6.25 FJX1 0 genome.wustl.edu 37 11 35642248 35642248 + RNA DEL A A - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 35642248 35642248 A - DEL FJX1 ENST00000532914 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FJX1 HGNC ENSG00000179431 tier1 54 0 0.00 60 20 25.00 FLG 0 genome.wustl.edu 37 1 152279935 152279935 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 152279935 152279935 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7427 p.S2476Y 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 171 0 0.00 118 81 40.70 FLG2 0 genome.wustl.edu 37 1 152327619 152327619 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 152327619 152327619 G A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.2643 p.Y881 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 175 0 0.00 107 66 37.93 FOXG1 0 genome.wustl.edu 37 14 29237109 29237109 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 14 29237109 29237109 C T SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known silent c.624 p.Y208 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 70 0 0.00 44 30 40.54 FTCD 0 genome.wustl.edu 37 21 47574184 47574184 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 21 47574184 47574184 G A SNP FTCD ENST00000359679 human ensembl 74_37 -1 known silent c.117 p.D39 0.766 pfam_Formiminotransferase_N,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 tier1 - - 161 0 0.00 92 22 19.30 GABBR1 0 genome.wustl.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 29573436 29573438 CAG - DEL GABBR1 ENST00000377034 human ensembl 74_37 -1 known in_frame_del c.2349_2347 p.L783in_frame_del 0.997:1.000:1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 tier1 40 0 0.00 17 3 15.00 GABBR2 0 genome.wustl.edu 37 9 101304292 101304292 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 101304292 101304292 C T SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.493 p.D165N 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 tier1 - - 60 0 0.00 46 18 28.12 GALR2 0 genome.wustl.edu 37 17 74070978 74070978 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 74070978 74070978 G A SNP GALR2 ENST00000329003 human ensembl 74_37 +1 known missense c.14 p.G5D 0.018 prints_GAL2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 tier1 - - 51 0 0.00 48 4 7.69 GAS7 0 genome.wustl.edu 37 17 9939846 9939846 + RNA SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 9939846 9939846 C T SNP GAS7 ENST00000578655 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GAS7 HGNC ENSG00000007237 tier1 - - 14 0 0.00 6 5 45.45 GCC1 0 genome.wustl.edu 37 7 127222498 127222498 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 127222498 127222498 G T SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1898 p.T633K 0.035 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 tier1 - - 58 0 0.00 59 4 6.35 GCC1 0 genome.wustl.edu 37 7 127225152 127225152 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 127225152 127225152 G T SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.85 p.L29I 0.081 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 37 0 0.00 31 2 6.06 GJC2 0 genome.wustl.edu 37 1 228346575 228346575 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 228346575 228346575 G A SNP GJC2 ENST00000366714 human ensembl 74_37 +1 known silent c.1116 p.S372 0.328 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 tier1 - - 9 0 0.00 4 5 55.56 GLB1L3 0 genome.wustl.edu 37 11 134162099 134162099 + Missense_Mutation SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 134162099 134162099 C A SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known missense c.803 p.T268N 0.041 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 tier1 - - 62 0 0.00 15 19 54.29 GPAT2 0 genome.wustl.edu 37 2 96690074 96690074 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 96690074 96690074 G A SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known missense c.1681 p.R561W 0.832 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 tier1 - - 71 0 0.00 42 15 26.32 GPC1 0 genome.wustl.edu 37 2 241405643 241405643 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 241405643 241405643 C T SNP GPC1 ENST00000264039 human ensembl 74_37 +1 known missense c.1613 p.P538L 0.000 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC ENSG00000063660 tier1 - - 152 0 0.00 107 23 17.69 GPR21 0 genome.wustl.edu 37 9 125797678 125797678 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 125797678 125797678 C T SNP GPR21 ENST00000373642 human ensembl 74_37 +1 known missense c.833 p.T278I 0.869 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR21 HGNC ENSG00000188394 tier1 - - 69 0 0.00 76 4 5.00 GPR32 0 genome.wustl.edu 37 19 51274368 51274368 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 51274368 51274368 G A SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.511 p.A171T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 tier1 - - 51 0 0.00 22 14 38.89 HEATR5A 0 genome.wustl.edu 37 14 31771645 31771645 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 14 31771645 31771645 G T SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.5302 p.Q1768K 0.991 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 tier1 - - 66 0 0.00 68 4 5.56 HK2 0 genome.wustl.edu 37 2 75094808 75094808 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 75094808 75094808 G A SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.272 p.R91H 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 tier1 - - 107 0 0.00 81 13 13.54 HPSE2 0 genome.wustl.edu 37 10 100503680 100503680 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 100503680 100503680 G A SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known silent c.744 p.S248 0.697 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 tier1 - - 65 0 0.00 51 27 34.62 HUWE1 0 genome.wustl.edu 37 X 53602169 53602169 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc X 53602169 53602169 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.6043 p.A2015T 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 64 0 0.00 52 5 8.77 IGSF21 0 genome.wustl.edu 37 1 18661448 18661448 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 18661448 18661448 G A SNP IGSF21 ENST00000251296 human ensembl 74_37 +1 known missense c.368 p.R123H 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF21 HGNC ENSG00000117154 tier1 - - 54 0 0.00 38 6 13.64 ISG20L2 0 genome.wustl.edu 37 1 156697415 156697415 + Missense_Mutation SNP A A C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 156697415 156697415 A C SNP ISG20L2 ENST00000313146 human ensembl 74_37 -1 known missense c.30 p.F10L 0.971 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 69 0 0.00 76 4 5.00 ITGA6 0 genome.wustl.edu 37 2 173368930 173368931 + Frame_Shift_Ins INS - - A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 173368930 173368931 - A INS ITGA6 ENST00000264106 human ensembl 74_37 +1 known frame_shift_ins c.3343_3344 p.Q1118fs 1.000:1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 tier1 36 0 0.00 17 15 46.88 KCNB2 0 genome.wustl.edu 37 8 73480108 73480108 + Nonsense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 73480108 73480108 G T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known nonsense c.139 p.E47* 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 - - 75 0 0.00 63 31 32.63 KEAP1 0 genome.wustl.edu 37 19 10610187 10610187 + Missense_Mutation SNP G G C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 10610187 10610187 G C SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.523 p.L175V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 23 0 0.00 38 2 5.00 KLHL24 0 genome.wustl.edu 37 3 183381293 183381293 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 183381293 183381293 G A SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.968 p.R323Q 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 tier1 - - 112 0 0.00 93 50 34.97 KPNA6 0 genome.wustl.edu 37 1 32622990 32622990 + Missense_Mutation SNP A A G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 32622990 32622990 A G SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known missense c.290 p.D97G 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 tier1 - - 101 0 0.00 61 4 6.15 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_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_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 tier1 rs121913529 - 59 0 0.00 52 20 27.78 LCE3E 0 genome.wustl.edu 37 1 152538409 152538409 + Nonsense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 152538409 152538409 G T SNP LCE3E ENST00000368789 human ensembl 74_37 -1 known nonsense c.276 p.C92* 0.984 NULL NULL - no_errors LCE3E HGNC ENSG00000185966 tier1 - - 81 0 0.00 73 22 23.16 LEMD2 0 genome.wustl.edu 37 6 33746063 33746063 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 33746063 33746063 C T SNP LEMD2 ENST00000293760 human ensembl 74_37 -1 known missense c.1112 p.R371Q 0.997 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD2 HGNC ENSG00000161904 tier1 - - 61 0 0.00 62 4 5.97 LGI1 0 genome.wustl.edu 37 10 95518113 95518113 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 95518113 95518113 C T SNP LGI1 ENST00000371418 human ensembl 74_37 +1 known missense c.212 p.S71L 1.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 82 0 0.00 50 4 7.41 LINC00933 0 genome.wustl.edu 37 15 85121557 85121557 + RNA DEL A A - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 15 85121557 85121557 A 0 DEL LINC00933 ENST00000557887 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors LINC00933 HGNC ENSG00000259728 8 0 0.00 4 3 42.86 LRIG1 0 genome.wustl.edu 37 3 66444597 66444597 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 66444597 66444597 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.1335 p.D445 1.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 55 0 0.00 76 4 5.00 LRRC19 0 genome.wustl.edu 37 9 26996481 26996481 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 26996481 26996481 G A SNP LRRC19 ENST00000380055 human ensembl 74_37 -1 known silent c.612 p.T204 0.896 smart_Cys-rich_flank_reg_C smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC ENSG00000184434 tier1 - - 75 0 0.00 76 4 5.00 LRRC63 0 genome.wustl.edu 37 13 46844610 46844610 + Silent SNP T T A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 13 46844610 46844610 T A SNP LRRC63 ENST00000446175 human ensembl 74_37 +1 known silent c.1599 p.S533 0.977 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 tier1 - - 30 0 0.00 39 7 15.22 LRRC8A 0 genome.wustl.edu 37 9 131670056 131670056 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 131670056 131670056 G A SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.613 p.V205M 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 tier1 - - 39 0 0.00 21 9 30.00 LTBP2 0 genome.wustl.edu 37 14 75052601 75052601 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 14 75052601 75052601 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.786 p.P262 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 tier1 - - 116 0 0.00 82 5 5.75 LTK 0 genome.wustl.edu 37 15 41803369 41803371 + In_Frame_Del DEL GCC GCC - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 15 41803369 41803371 GCC - DEL LTK ENST00000263800 human ensembl 74_37 -1 known in_frame_del c.990_988 p.G330in_frame_del 1.000:1.000:1.000 NULL 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 LTK HGNC ENSG00000062524 tier1 73 0 0.00 33 2 5.71 LTK 0 genome.wustl.edu 37 15 41804982 41804982 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 15 41804982 41804982 G T SNP LTK ENST00000263800 human ensembl 74_37 -1 known missense c.282 p.S94R 1.000 NULL 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 LTK HGNC ENSG00000062524 124 0 0.00 74 4 5.13 MAB21L1 0 genome.wustl.edu 37 13 36049601 36049601 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 13 36049601 36049601 C T SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known silent c.675 p.A225 0.877 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 tier1 - - 23 0 0.00 12 18 60.00 MAGEC1 0 genome.wustl.edu 37 X 140995192 140995192 + Missense_Mutation SNP G G C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc X 140995192 140995192 G C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.2002 p.E668Q 0.918 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 43 0 0.00 37 19 33.93 MCMDC2 0 genome.wustl.edu 37 8 67803140 67803140 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 67803140 67803140 C T SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.1114 p.R372C 0.999 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 tier1 - - 119 0 0.00 67 46 40.71 MIR3156-3 0 genome.wustl.edu 37 21 14778723 14778723 + RNA SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 21 14778723 14778723 G T SNP MIR3156-3 ENST00000580304 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors MIR3156-3 HGNC ENSG00000266211 tier1 - - 47 0 0.00 49 11 18.33 MRC2 0 genome.wustl.edu 37 17 60741944 60741944 + Nonsense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 60741944 60741944 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known nonsense c.154 p.Q52* 0.804 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 tier1 - - 60 0 0.00 42 4 8.70 MRPL54 0 genome.wustl.edu 37 19 3765204 3765204 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 3765204 3765204 C T SNP MRPL54 ENST00000330133 human ensembl 74_37 +1 known silent c.159 p.S53 0.000 NULL pfam_Ribosomal_L37_mit - no_errors MRPL54 HGNC ENSG00000183617 tier1 - - 47 0 0.00 52 4 7.14 MS4A10 0 genome.wustl.edu 37 11 60557950 60557950 + Nonsense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 60557950 60557950 G T SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known nonsense c.142 p.E48* 0.002 NULL pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 60 0 0.00 44 3 6.38 MT-ND5 0 genome.wustl.edu 37 MT 12904 12904 + Missense_Mutation SNP A A G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc MT 12904 12904 A G SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.568 p.I190V NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 18 0 0.00 7 2 22.22 NAV3 0 genome.wustl.edu 37 12 78444920 78444920 + Missense_Mutation SNP A A G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 78444920 78444920 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.2509 p.N837D 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 48 0 0.00 47 4 7.84 NCAM2 0 genome.wustl.edu 37 21 22849776 22849776 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 21 22849776 22849776 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known silent c.2061 p.K687 0.942 superfamily_Fibronectin_type3 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,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 78 0 0.00 57 4 6.56 NEK5 0 genome.wustl.edu 37 13 52661570 52661570 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 13 52661570 52661570 G A SNP NEK5 ENST00000355568 human ensembl 74_37 -1 known silent c.1296 p.A432 0.975 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_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 tier1 - - 92 0 0.00 68 66 49.25 NFXL1 0 genome.wustl.edu 37 4 47900808 47900808 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 47900808 47900808 C T SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known missense c.1055 p.R352K 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 tier1 - - 81 0 0.00 25 34 57.63 NLE1 0 genome.wustl.edu 37 17 33464163 33464163 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 33464163 33464163 G A SNP NLE1 ENST00000442241 human ensembl 74_37 -1 known missense c.685 p.R229W 0.995 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B - no_errors NLE1 HGNC ENSG00000073536 tier1 - - 71 0 0.00 29 12 29.27 NLRP3 0 genome.wustl.edu 37 1 247587419 247587420 + Frame_Shift_Ins INS - - G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 247587419 247587420 - G INS NLRP3 ENST00000336119 human ensembl 74_37 +1 known frame_shift_ins c.674_675 p.A227fs 1.000:1.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 tier1 50 0 0.00 30 2 6.25 NOD2 0 genome.wustl.edu 37 16 50745944 50745944 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 50745944 50745944 C T SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.2122 p.R708C 0.017 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 - - 51 0 0.00 41 36 46.75 NOX3 0 genome.wustl.edu 37 6 155751997 155751997 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 155751997 155751997 G T SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known missense c.871 p.Q291K 1.000 superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 27 0 0.00 31 2 5.88 NPNT 0 genome.wustl.edu 37 4 106816881 106816881 + Splice_Site SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 106816881 106816881 G T SNP NPNT ENST00000379987 human ensembl 74_37 +1 known splice_site c.71+1 e1+1 0.998 - - - no_errors NPNT HGNC ENSG00000168743 tier1 - - 168 0 0.00 44 50 53.19 NR1D2 0 genome.wustl.edu 37 3 24009343 24009343 + Missense_Mutation SNP G G C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 24009343 24009343 G C SNP NR1D2 ENST00000312521 human ensembl 74_37 +1 known missense c.1372 p.E458Q 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 tier1 - - 52 0 0.00 40 20 33.33 NTM 0 genome.wustl.edu 37 11 132206283 132206284 + RNA DEL AA AA - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 132206283 132206284 AA - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.023:0.070 - - - no_errors NTM HGNC ENSG00000182667 tier1 21 0 0.00 17 3 15.00 NUP153 0 genome.wustl.edu 37 6 17629214 17629214 + Missense_Mutation SNP T T G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 17629214 17629214 T G SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.3309 p.K1103N 0.973 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 tier1 - - 73 0 0.00 31 20 39.22 OCSTAMP 0 genome.wustl.edu 37 20 45170430 45170430 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 20 45170430 45170430 C T SNP OCSTAMP ENST00000279028 human ensembl 74_37 -1 known missense c.1184 p.R395Q 0.004 pfam_DC_STAMP-like pfam_DC_STAMP-like - no_errors OCSTAMP HGNC ENSG00000149635 27 0 0.00 22 5 18.52 OR13C4 0 genome.wustl.edu 37 9 107289070 107289070 + Missense_Mutation SNP A A G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 107289070 107289070 A G SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.421 p.Y141H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 tier1 - - 40 0 0.00 40 22 35.48 OSMR 0 genome.wustl.edu 37 5 38933248 38933248 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 38933248 38933248 C T SNP OSMR ENST00000274276 human ensembl 74_37 +1 known missense c.2642 p.P881L 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 tier1 - - 64 0 0.00 21 51 70.83 PAX4 0 genome.wustl.edu 37 7 127253852 127253852 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 127253852 127253852 G A SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.496 p.R166W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 tier1 - - 65 0 0.00 74 25 25.25 PCGF1 0 genome.wustl.edu 37 2 74733931 74733931 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 74733931 74733931 G T SNP PCGF1 ENST00000233630 human ensembl 74_37 -1 known missense c.280 p.P94T 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF1 HGNC ENSG00000115289 90 0 0.00 72 4 5.26 PCSK5 0 genome.wustl.edu 37 9 78853891 78853891 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 78853891 78853891 G T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.2883 p.E961D 0.110 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 55 0 0.00 55 4 6.78 PDE3B 0 genome.wustl.edu 37 11 14880604 14880604 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 14880604 14880604 G T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.2536 p.D846Y 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 tier1 - - 76 0 0.00 51 28 35.44 PDSS1 0 genome.wustl.edu 37 10 26986739 26986739 + Silent SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 26986739 26986739 G T SNP PDSS1 ENST00000376215 human ensembl 74_37 +1 known silent c.99 p.G33 0.000 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC ENSG00000148459 22 0 0.00 10 4 28.57 PDSS1 0 genome.wustl.edu 37 10 26986740 26986740 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 26986740 26986740 C T SNP PDSS1 ENST00000376215 human ensembl 74_37 +1 known missense c.100 p.P34S 0.000 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC ENSG00000148459 22 0 0.00 10 4 28.57 PER2 0 genome.wustl.edu 37 2 239157804 239157804 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 239157804 239157804 G T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.3517 p.Q1173K 1.000 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 58 0 0.00 45 4 8.16 PES1 0 genome.wustl.edu 37 22 30975882 30975882 + Missense_Mutation SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 22 30975882 30975882 C A SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.1210 p.A404S 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 tier1 - - 62 0 0.00 41 31 43.06 PLXNA4 0 genome.wustl.edu 37 7 131831446 131831446 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 131831446 131831446 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.4878 p.R1626 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 72 0 0.00 70 5 6.67 POLR1B 0 genome.wustl.edu 37 2 113325658 113325658 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 113325658 113325658 C T SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known missense c.1975 p.R659W 0.860 pfam_RNA_pol_Rpa2-specific pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 tier1 - - 83 0 0.00 56 4 6.67 PPEF2 0 genome.wustl.edu 37 4 76785642 76785642 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 76785642 76785642 G A SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known silent c.1959 p.N653 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 tier1 - - 60 0 0.00 73 4 5.19 PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 202407190 202407190 T - DEL PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_del c.1496 p.F502fs 0.041 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 PPP1R12B HGNC ENSG00000077157 tier1 50 0 0.00 34 3 8.11 PPP1R16B 0 genome.wustl.edu 37 20 37531431 37531431 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 20 37531431 37531431 C T SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.692 p.T231I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 tier1 - - 55 0 0.00 33 18 35.29 PPP2R5C 0 genome.wustl.edu 37 14 102360876 102360876 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 14 102360876 102360876 G T SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known missense c.924 p.K308N 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 tier1 - - 71 0 0.00 68 4 5.56 PQBP1 0 genome.wustl.edu 37 X 48755853 48755853 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc X 48755853 48755853 G A SNP PQBP1 ENST00000218224 human ensembl 74_37 +1 known missense c.61 p.E21K 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PQBP1 HGNC ENSG00000102103 tier1 - - 29 0 0.00 7 8 53.33 PRAMEF1 0 genome.wustl.edu 37 1 12855915 12855915 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 12855915 12855915 C T SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.1195 p.R399C 0.012 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 327 0 0.00 415 22 5.02 PRAMEF2 0 genome.wustl.edu 37 1 12921404 12921404 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 12921404 12921404 C T SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.1195 p.R399C 0.003 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 tier1 - - 304 0 0.00 254 46 15.28 PRDM16 0 genome.wustl.edu 37 1 3329152 3329152 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 3329152 3329152 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.2391 p.S797 0.016 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 137 0 0.00 74 53 41.73 PRKAB1 0 genome.wustl.edu 37 12 120114351 120114351 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 120114351 120114351 G A SNP PRKAB1 ENST00000229328 human ensembl 74_37 +1 known missense c.542 p.S181N 1.000 NULL pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 tier1 - - 100 0 0.00 68 33 32.67 PRMT5 0 genome.wustl.edu 37 14 23394147 23394147 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 14 23394147 23394147 G A SNP PRMT5 ENST00000324366 human ensembl 74_37 -1 known missense c.880 p.P294S 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 tier1 - - 93 0 0.00 87 21 19.44 PSMD3 0 genome.wustl.edu 37 17 38153633 38153634 + Frame_Shift_Ins INS - - GTAA TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 38153633 38153634 - GTAA INS PSMD3 ENST00000264639 human ensembl 74_37 +1 known frame_shift_ins c.1527_1528 p.E509fs 1.000:1.000 pfam_26S_Psome_reg_C pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 tier1 67 0 0.00 78 10 11.36 PSTPIP2 0 genome.wustl.edu 37 18 43585474 43585474 + Silent SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 18 43585474 43585474 G T SNP PSTPIP2 ENST00000409746 human ensembl 74_37 -1 known silent c.378 p.I126 0.041 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP2 HGNC ENSG00000152229 53 0 0.00 23 2 8.00 PTPN13 0 genome.wustl.edu 37 4 87691018 87691018 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 87691018 87691018 G A SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.4601 p.S1534N 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 119 0 0.00 73 4 5.19 PTPRC 0 genome.wustl.edu 37 1 198687284 198687284 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 198687284 198687284 G T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1512 p.K504N 0.000 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 75 0 0.00 64 4 5.88 RAB10 0 genome.wustl.edu 37 2 26350735 26350735 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 26350735 26350735 G A SNP RAB10 ENST00000264710 human ensembl 74_37 +1 known missense c.434 p.G145D 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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_ARF,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 RAB10 HGNC ENSG00000084733 tier1 - - 88 0 0.00 69 4 5.48 RAB25 0 genome.wustl.edu 37 1 156038211 156038211 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 156038211 156038211 C T SNP RAB25 ENST00000361084 human ensembl 74_37 +1 known silent c.390 p.S130 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB25 HGNC ENSG00000132698 60 0 0.00 75 4 5.06 RAP1GAP 0 genome.wustl.edu 37 1 21978179 21978179 + RNA SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 21978179 21978179 C T SNP RAP1GAP ENST00000374757 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors RAP1GAP HGNC ENSG00000076864 tier1 - - 75 0 0.00 30 4 11.76 RBM19 0 genome.wustl.edu 37 12 114356243 114356243 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 114356243 114356243 C T SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.2395 p.V799M 0.989 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 tier1 - - 35 0 0.00 44 7 13.73 RBM34 0 genome.wustl.edu 37 1 235318216 235318216 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 235318216 235318216 G A SNP RBM34 ENST00000408888 human ensembl 74_37 -1 known missense c.577 p.P193S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 tier1 - - 111 0 0.00 94 5 5.05 RGS12 0 genome.wustl.edu 37 4 3422409 3422409 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 3422409 3422409 G A SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known silent c.2802 p.S934 0.185 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 - - 55 0 0.00 30 4 11.76 RGSL1 0 genome.wustl.edu 37 1 182443379 182443379 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 182443379 182443379 C T SNP RGSL1 ENST00000294854 human ensembl 74_37 +1 known missense c.1133 p.A378V 0.000 superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC ENSG00000121446 57 0 0.00 42 3 6.67 RIMS2 0 genome.wustl.edu 37 8 104897914 104897914 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 104897914 104897914 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1087 p.R363W 0.443 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 RIMS2 HGNC ENSG00000176406 tier1 - - 69 0 0.00 53 4 7.02 RPRML 0 genome.wustl.edu 37 17 45056320 45056320 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 45056320 45056320 G A SNP RPRML ENST00000322329 human ensembl 74_37 -1 known silent c.54 p.G18 0.388 NULL NULL - no_errors RPRML HGNC ENSG00000179673 tier1 - - 20 0 0.00 15 12 44.44 SALL3 0 genome.wustl.edu 37 18 76753955 76753955 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 18 76753955 76753955 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1964 p.S655L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 34 0 0.00 6 6 50.00 SCIMP 0 genome.wustl.edu 37 17 5126688 5126688 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 5126688 5126688 C T SNP SCIMP ENST00000574081 human ensembl 74_37 -1 known missense c.85 p.V29I 0.000 NULL NULL - no_errors SCIMP HGNC ENSG00000161929 84 0 0.00 54 4 6.90 SDK1 0 genome.wustl.edu 37 7 4056815 4056815 + Silent SNP T T A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 4056815 4056815 T A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.2433 p.A811 0.079 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 90 0 0.00 70 4 5.41 SEMA3E 0 genome.wustl.edu 37 7 83026033 83026033 + Missense_Mutation SNP A A T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 83026033 83026033 A T SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.1379 p.V460E 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 tier1 - - 54 0 0.00 56 4 6.67 SEMA6A 0 genome.wustl.edu 37 5 115782665 115782665 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 115782665 115782665 C T SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2788 p.G930R 0.993 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 tier1 - - 72 0 0.00 31 24 43.64 SENP3 0 genome.wustl.edu 37 17 7468306 7468306 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 7468306 7468306 G T SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known missense c.986 p.G329V 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 tier1 - - 60 0 0.00 44 4 8.33 SERPINF1 0 genome.wustl.edu 37 17 1674367 1674367 + Missense_Mutation SNP T T A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 1674367 1674367 T A SNP SERPINF1 ENST00000254722 human ensembl 74_37 +1 known missense c.328 p.Y110N 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF1 HGNC ENSG00000132386 tier1 - - 80 0 0.00 72 4 5.26 SEZ6L 0 genome.wustl.edu 37 22 26688433 26688433 + Silent SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 22 26688433 26688433 G T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.156 p.P52 0.002 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 - - 60 0 0.00 73 4 5.19 SGCD 0 genome.wustl.edu 37 5 156186335 156186335 + Silent SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 156186335 156186335 G T SNP SGCD ENST00000337851 human ensembl 74_37 +1 known silent c.807 p.G269 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 52 0 0.00 33 2 5.71 SHROOM3 0 genome.wustl.edu 37 4 77677900 77677900 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 77677900 77677900 G T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.5008 p.A1670S 0.993 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 65 0 0.00 57 4 6.56 SLC22A10 0 genome.wustl.edu 37 11 63066469 63066469 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 63066469 63066469 C T SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known missense c.908 p.A303V 0.992 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 79 0 0.00 59 4 6.35 SLC29A1 0 genome.wustl.edu 37 6 44189380 44189380 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 44189380 44189380 G T SNP SLC29A1 ENST00000313248 human ensembl 74_37 +1 known missense c.144 p.E48D 0.003 NULL pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 tier1 - - 32 0 0.00 41 4 8.89 SMAD5 0 genome.wustl.edu 37 5 135514032 135514032 + RNA SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 135514032 135514032 C T SNP SMAD5 ENST00000514641 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SMAD5 HGNC ENSG00000113658 tier1 - - 75 0 0.00 67 4 5.63 SMARCB1 0 genome.wustl.edu 37 22 24175848 24175848 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 22 24175848 24175848 C T SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.1076 p.A359V 0.996 pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 tier1 - - 38 0 0.00 54 4 6.90 SNORA53 0 genome.wustl.edu 37 12 98993464 98993464 + RNA SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 98993464 98993464 C A SNP SNORA53 ENST00000391141 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors SNORA53 HGNC ENSG00000212443 tier1 - - 120 0 0.00 88 5 5.38 SNTG2 0 genome.wustl.edu 37 2 1241751 1241751 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 1241751 1241751 G A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.811 p.A271T 0.097 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 57 0 0.00 30 4 11.76 SNX9 0 genome.wustl.edu 37 6 158363834 158363834 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 158363834 158363834 G T SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known missense c.1752 p.K584N 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 56 0 0.00 70 4 5.41 SORL1 0 genome.wustl.edu 37 11 121475855 121475855 + Missense_Mutation SNP A A G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 121475855 121475855 A G SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.4685 p.Q1562R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 96 0 0.00 75 4 5.06 SOX1 0 genome.wustl.edu 37 13 112722424 112722424 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 13 112722424 112722424 C T SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.452 p.A151V 1.000 pfam_TF_SOX pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 tier1 - - 11 0 0.00 10 9 47.37 SOX10 0 genome.wustl.edu 37 22 38379482 38379482 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 22 38379482 38379482 C T SNP SOX10 ENST00000360880 human ensembl 74_37 -1 known missense c.310 p.V104I 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX10 HGNC ENSG00000100146 tier1 - - 147 0 0.00 117 43 26.88 SOX5 0 genome.wustl.edu 37 12 23998970 23998970 + Missense_Mutation SNP A A G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 23998970 23998970 A G SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.428 p.V143A 0.996 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 tier1 - - 50 0 0.00 31 27 46.55 SPC25 0 genome.wustl.edu 37 2 169746017 169746017 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 169746017 169746017 C T SNP SPC25 ENST00000282074 human ensembl 74_37 -1 known missense c.13 p.E5K 0.581 NULL pfam_Spc25 - no_errors SPC25 HGNC ENSG00000152253 28 0 0.00 22 2 8.33 SPEF2 0 genome.wustl.edu 37 5 35727842 35727842 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 5 35727842 35727842 G T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.2980 p.D994Y 0.148 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 45 0 0.00 69 4 5.48 SPR 0 genome.wustl.edu 37 2 73115449 73115449 + Missense_Mutation SNP T T A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 73115449 73115449 T A SNP SPR ENST00000234454 human ensembl 74_37 +1 known missense c.311 p.L104H 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC ENSG00000116096 81 0 0.00 75 4 5.06 SSC5D 0 genome.wustl.edu 37 19 56011964 56011964 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 56011964 56011964 C T SNP SSC5D ENST00000389623 human ensembl 74_37 +1 known missense c.2410 p.R804W 0.001 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SSC5D HGNC ENSG00000179954 tier1 - - 143 0 0.00 108 46 29.87 STAB1 0 genome.wustl.edu 37 3 52556952 52556952 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 52556952 52556952 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.6906 p.V2302 0.018 superfamily_C-type_lectin_fold,superfamily_FAS1_domain 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 tier1 - - 32 0 0.00 26 4 13.33 STEAP3 0 genome.wustl.edu 37 2 120012354 120012354 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 120012354 120012354 C T SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.1145 p.S382F 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 78 0 0.00 57 4 6.56 SYNE1 0 genome.wustl.edu 37 6 152576221 152576221 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 152576221 152576221 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.19264 p.L6422I 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 tier1 - - 49 0 0.00 37 11 22.92 SYT4 0 genome.wustl.edu 37 18 40857273 40857273 + RNA SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 18 40857273 40857273 G A SNP SYT4 ENST00000586678 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 83 0 0.00 37 4 9.76 SZT2 0 genome.wustl.edu 37 1 43908862 43908862 + Missense_Mutation SNP T T C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 43908862 43908862 T C SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.8252 p.L2751P 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 tier1 - - 77 0 0.00 73 4 5.19 TAF1 0 genome.wustl.edu 37 X 70601714 70601714 + Silent SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc X 70601714 70601714 G T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known silent c.1479 p.R493 0.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 51 0 0.00 74 4 5.13 TAF1C 0 genome.wustl.edu 37 16 84216924 84216924 + Missense_Mutation SNP A A G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 84216924 84216924 A G SNP TAF1C ENST00000569505 human ensembl 74_37 -1 known missense c.128 p.L43P 1.000 NULL NULL - no_errors TAF1C HGNC ENSG00000103168 tier1 - - 29 0 0.00 22 16 42.11 TANK 0 genome.wustl.edu 37 2 162087607 162087607 + Nonsense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 162087607 162087607 G T SNP TANK ENST00000259075 human ensembl 74_37 +1 known nonsense c.646 p.G216* 1.000 NULL NULL - no_errors TANK HGNC ENSG00000136560 54 0 0.00 26 2 7.14 TATDN2 0 genome.wustl.edu 37 3 10290963 10290964 + Frame_Shift_Ins INS - - GG TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 10290963 10290964 0 GG INS TATDN2 ENST00000287652 human ensembl 74_37 +1 known frame_shift_ins c.79_80 p.E28fs 1.000:1.000 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 114 0 0.00 129 9 6.52 TDRKH 0 genome.wustl.edu 37 1 151747924 151747924 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 151747924 151747924 G T SNP TDRKH ENST00000368822 human ensembl 74_37 -1 known missense c.1378 p.Q460K 1.000 NULL pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 tier1 - - 68 0 0.00 51 4 7.27 TIAM1 0 genome.wustl.edu 37 21 32595768 32595768 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 21 32595768 32595768 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.1949 p.A650V 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 113 0 0.00 94 5 5.05 TMPRSS4 0 genome.wustl.edu 37 11 117969749 117969749 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 11 117969749 117969749 G T SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known missense c.93 p.K31N 0.995 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 tier1 - - 57 0 0.00 43 4 8.33 TMTC1 0 genome.wustl.edu 37 12 29936476 29936476 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 29936476 29936476 C T SNP TMTC1 ENST00000539277 human ensembl 74_37 -1 putative missense c.209 p.R70H 0.994 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 tier1 - - 152 0 0.00 143 59 29.06 TOMM70A 0 genome.wustl.edu 37 3 100119483 100119483 + Missense_Mutation SNP G G C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 100119483 100119483 G C SNP TOMM70A ENST00000284320 human ensembl 74_37 -1 known missense c.311 p.A104G 0.855 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC ENSG00000154174 tier1 - - 121 0 0.00 81 30 27.03 TP53 0 genome.wustl.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 17 7578526 7578526 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.404 p.C135F 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 - - 55 0 0.00 16 22 57.89 TP53TG3D 0 genome.wustl.edu 37 16 32265836 32265836 + RNA SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 32265836 32265836 C T SNP TP53TG3D ENST00000564810 human ensembl 74_37 +1 known rna NULL NULL 0.373 - - - no_errors TP53TG3D HGNC ENSG00000205456 tier1 - - 150 0 0.00 126 73 36.50 TRAPPC9 0 genome.wustl.edu 37 8 140922425 140922425 + Missense_Mutation SNP T T C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 140922425 140922425 T C SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.3224 p.E1075G 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 78 0 0.00 81 15 15.62 TSHZ3 0 genome.wustl.edu 37 19 31770238 31770240 + In_Frame_Del DEL CTG CTG - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 31770238 31770240 CTG - DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known in_frame_del c.461_459 p.S157in_frame_del 1.000:1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 62 0 0.00 58 6 9.38 TSNAXIP1 0 genome.wustl.edu 37 16 67858589 67858589 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 67858589 67858589 G T SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.423 p.E141D 0.997 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 tier1 - - 71 0 0.00 64 20 23.81 TTC28 0 genome.wustl.edu 37 22 28388606 28388606 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 22 28388606 28388606 G A SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel missense c.5522 p.A1841V 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 90 0 0.00 114 6 5.00 TTN 0 genome.wustl.edu 37 2 179447301 179447301 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 179447301 179447301 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.58178 p.A19393E 1.000 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 tier1 - - 34 0 0.00 41 4 8.89 UBAP1 0 genome.wustl.edu 37 9 34250735 34250735 + Missense_Mutation SNP T T C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 34250735 34250735 T C SNP UBAP1 ENST00000545103 human ensembl 74_37 +1 known missense c.1538 p.M513T 1.000 superfamily_UBA-like superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 81 0 0.00 93 5 5.10 UBE3B 0 genome.wustl.edu 37 12 109949113 109949113 + RNA SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 12 109949113 109949113 G A SNP UBE3B ENST00000535900 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 61 0 0.00 36 31 46.27 UQCRC2 0 genome.wustl.edu 37 16 21964747 21964747 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 21964747 21964747 G T SNP UQCRC2 ENST00000268379 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC2 HGNC ENSG00000140740 40 0 0.00 56 3 5.08 USF1 0 genome.wustl.edu 37 1 161011971 161011971 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 161011971 161011971 G T SNP USF1 ENST00000368020 human ensembl 74_37 -1 known missense c.211 p.L71M 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF1 HGNC ENSG00000158773 73 0 0.00 61 4 6.06 USP10 0 genome.wustl.edu 37 16 84779188 84779188 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 84779188 84779188 C T SNP USP10 ENST00000570191 human ensembl 74_37 +1 known silent c.1113 p.P371 0.998 NULL pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 tier1 - - 137 0 0.00 100 83 45.36 VIL1 0 genome.wustl.edu 37 2 219303392 219303392 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 219303392 219303392 C T SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known silent c.2172 p.S724 0.998 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 tier1 - - 95 0 0.00 56 27 32.53 WBP1 0 genome.wustl.edu 37 2 74687409 74687410 + Frame_Shift_Ins INS - - C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 74687409 74687410 - C INS WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_ins c.411_412 p.Y140fs 0.119:0.993 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 tier1 122 0 0.00 74 34 31.48 WDFY4 0 genome.wustl.edu 37 10 50190923 50190924 + RNA INS - - AA TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 10 50190923 50190924 - AA INS WDFY4 ENST00000465910 human ensembl 74_37 +1 known rna NULL NULL 0.898:0.023 - - - no_errors WDFY4 HGNC ENSG00000128815 tier1 18 0 0.00 19 4 17.39 WDR59 0 genome.wustl.edu 37 16 74946165 74946165 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 74946165 74946165 G A SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known silent c.1320 p.N440 0.969 superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 tier1 - - 48 0 0.00 85 5 5.56 XPO6 0 genome.wustl.edu 37 16 28109896 28109896 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 16 28109896 28109896 C T SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known missense c.3341 p.C1114Y 1.000 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 51 0 0.00 68 4 5.56 XPR1 0 genome.wustl.edu 37 1 180843070 180843070 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 180843070 180843070 G T SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.1800 p.E600D 1.000 pfam_EXS_C pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 76 0 0.00 67 4 5.63 YARS 0 genome.wustl.edu 37 1 33241585 33241585 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 33241585 33241585 G A SNP YARS ENST00000373477 human ensembl 74_37 -1 known silent c.1584 p.S528 1.000 superfamily_NA-bd_OB-fold pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 57 0 0.00 37 4 9.76 ZBTB12 0 genome.wustl.edu 37 6 31868356 31868357 + Frame_Shift_Ins INS - - GT TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 6 31868356 31868357 - GT INS ZBTB12 ENST00000375527 human ensembl 74_37 -1 known frame_shift_ins c.727_726 p.L242fs 0.994:0.996 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 tier1 98 0 0.00 92 57 38.26 ZBTB5 0 genome.wustl.edu 37 9 37442366 37442366 + Silent SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 9 37442366 37442366 G T SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known silent c.183 p.T61 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 tier1 - - 30 0 0.00 49 4 7.55 ZEB2 0 genome.wustl.edu 37 2 145147113 145147113 + Missense_Mutation SNP C C G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 2 145147113 145147113 C G SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.3550 p.E1184Q 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 82 0 0.00 62 10 13.89 ZFP42 0 genome.wustl.edu 37 4 188924760 188924760 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 4 188924760 188924760 C T SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.799 p.R267C 0.890 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 tier1 - - 51 0 0.00 12 11 47.83 ZFPM2 0 genome.wustl.edu 37 8 106813340 106813340 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 8 106813340 106813340 G T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1030 p.A344S 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 86 0 0.00 67 25 27.17 ZIC4 0 genome.wustl.edu 37 3 147124452 147124453 + RNA INS - - T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 3 147124452 147124453 - T INS ZIC4 ENST00000464144 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 54 0 0.00 53 6 10.17 ZNF441 0 genome.wustl.edu 37 19 11892530 11892530 + Missense_Mutation SNP C C G TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 19 11892530 11892530 C G SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1891 p.R631G 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 ZNF441 HGNC ENSG00000197044 66 0 0.00 70 4 5.41 ZNF767 0 genome.wustl.edu 37 7 149318616 149318616 + RNA SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 149318616 149318616 G T SNP ZNF767 ENST00000463567 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors ZNF767 HGNC ENSG00000133624 80 0 0.00 72 4 5.26 ZNF804B 0 genome.wustl.edu 37 7 88964965 88964965 + Missense_Mutation SNP A A C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 88964965 88964965 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2669 p.K890T 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 75 0 0.00 55 22 28.57 ZNF804B 0 genome.wustl.edu 37 7 88965418 88965418 + Missense_Mutation SNP A A T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 7 88965418 88965418 A T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3122 p.N1041I 0.996 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 46 0 0.00 30 3 9.09 ZZZ3 0 genome.wustl.edu 37 1 78030139 78030139 + RNA DEL A A - TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e143e72-fabb-477f-a577-53f0ab1c2a5c 5a9e8a71-e4fd-4699-bd7a-a02771c76ebc 1 78030139 78030139 A - DEL ZZZ3 ENST00000481346 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZZZ3 HGNC ENSG00000036549 tier1 40 0 0.00 30 3 9.09