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 ABCD3 5825 genome.wustl.edu 37 1 94982641 94982641 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 94982641 94982641 G A SNP ABCD3 ENST00000454898 human ensembl 70_37 +1 known missense c.2008 p.E670K 1.000 pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD3 HGNC ADH7 131 genome.wustl.edu 37 4 100349082 100349082 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 100349082 100349082 G T SNP ADH7 ENST00000209665 human ensembl 70_37 -1 known missense c.448 p.H150N 0.010 pfam_ADH_GroES-like,superfamily_GroES-like pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247067298 247067298 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 247067298 247067298 C T SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.946 p.A316T 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ALDH1L1 10840 genome.wustl.edu 37 3 125877305 125877305 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 125877305 125877305 G T SNP ALDH1L1 ENST00000393434 human ensembl 70_37 -1 known missense c.305 p.S102Y 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ARHGAP36 158763 genome.wustl.edu 37 X 130217839 130217839 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 130217839 130217839 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.451 p.R151W 0.997 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ARL14EP 120534 genome.wustl.edu 37 11 30358265 30358265 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 30358265 30358265 C T SNP ARL14EP ENST00000282032 human ensembl 70_37 +1 known missense c.706 p.R236C 1.000 NULL NULL - no_errors ARL14EP HGNC ATF7IP 55729 genome.wustl.edu 37 12 14613933 14613933 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 12 14613933 14613933 C T SNP ATF7IP ENST00000261168 human ensembl 70_37 +1 known missense c.2663 p.S888F 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC BAI2 576 genome.wustl.edu 37 1 32210276 32210276 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 32210276 32210276 C T SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.895 p.E299K 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC C19orf47 126526 genome.wustl.edu 37 19 40827897 40827897 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 19 40827897 40827897 C T SNP C19orf47 ENST00000582783 human ensembl 70_37 -1 known silent c.1161 p.R387 1.000 NULL superfamily_SAM/pointed - no_errors C19orf47 HGNC C1orf106 55765 genome.wustl.edu 37 1 200876963 200876963 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 200876963 200876963 G A SNP C1orf106 ENST00000367342 human ensembl 70_37 +1 known silent c.777 p.E259 1.000 NULL pfam_DUF3338 - no_errors C1orf106 HGNC CD109 135228 genome.wustl.edu 37 6 74517881 74517881 + Missense_Mutation SNP C C G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 74517881 74517881 C G SNP CD109 ENST00000287097 human ensembl 70_37 +1 known missense c.3265 p.L1089V 0.726 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC CD226 10666 genome.wustl.edu 37 18 67563262 67563262 + Silent SNP C C A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 18 67563262 67563262 C A SNP CD226 ENST00000280200 human ensembl 70_37 -1 known silent c.402 p.V134 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD226 HGNC CENPI 2491 genome.wustl.edu 37 X 100402754 100402754 + Missense_Mutation SNP A A G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 100402754 100402754 A G SNP CENPI ENST00000372927 human ensembl 70_37 +1 known missense c.1829 p.Y610C 0.997 NULL pfam_Centromere_CenpI - no_errors CENPI HGNC CLCC1 23155 genome.wustl.edu 37 1 109472737 109472737 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 109472737 109472737 G A SNP CLCC1 ENST00000473062 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CLCC1 HGNC CNTNAP2 26047 genome.wustl.edu 37 7 147092868 147092868 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 7 147092868 147092868 G A SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.1666 p.D556N 1.000 pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC CNTNAP3 79937 genome.wustl.edu 37 9 39149948 39149948 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 39149948 39149948 C T SNP CNTNAP3 ENST00000297668 human ensembl 70_37 -1 known missense c.1504 p.G502R 0.229 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,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,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 CNTNAP3 HGNC COBLL1 22837 genome.wustl.edu 37 2 165586456 165586456 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 165586456 165586456 C T SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known missense c.559 p.D187N 1.000 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC CST3 1471 genome.wustl.edu 37 20 23614632 23614632 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 20 23614632 23614632 G T SNP CST3 ENST00000376925 human ensembl 70_37 -1 known missense c.362 p.A121E 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST3 HGNC CTNNA2 1496 genome.wustl.edu 37 2 80773063 80773063 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 80773063 80773063 G A SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known missense c.1517 p.R506Q 0.999 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC DCC 1630 genome.wustl.edu 37 18 50866187 50866187 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 18 50866187 50866187 G A SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.2269 p.G757S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC DCHS2 54798 genome.wustl.edu 37 4 155411341 155411341 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 155411341 155411341 G A SNP DCHS2 ENST00000339452 human ensembl 70_37 -1 known silent c.1167 p.G389 0.013 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC EGFL6 25975 genome.wustl.edu 37 X 13645279 13645279 + Nonsense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 13645279 13645279 C T SNP EGFL6 ENST00000380602 human ensembl 70_37 +1 known nonsense c.1438 p.R480* 0.990 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000189275 0 genome.wustl.edu 37 10 133608290 133608290 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 10 133608290 133608290 C T SNP ENSG00000189275 ENST00000341866 human ensembl 70_37 -1 known missense c.86 p.S29N 0.000 NULL NULL - no_errors AL450307.1 Clone_based_ensembl_gene ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65483 65483 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a GL000212.1 65483 65483 C T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.1232 p.T411M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ERBB2 2064 genome.wustl.edu 37 17 37884255 37884255 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 37884255 37884255 G A SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known silent c.3726 p.T1242 0.609 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC FAM127A 8933 genome.wustl.edu 37 X 134166458 134166458 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 134166458 134166458 G A SNP FAM127A ENST00000257013 human ensembl 70_37 +1 novel silent c.45 p.P15 0.002 NULL NULL - no_errors FAM127A HGNC MTFR2 113115 genome.wustl.edu 37 6 136560647 136560647 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 136560647 136560647 C T SNP FAM54A ENST00000420702 human ensembl 70_37 -1 known missense c.826 p.V276I 1.000 pfam_Mtfr1 pfam_Mtfr1 - no_errors FAM54A HGNC FBXW7 55294 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FLNA 2316 genome.wustl.edu 37 X 153585975 153585975 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 153585975 153585975 G A SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.4772 p.P1591L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC FSIP2 401024 genome.wustl.edu 37 2 186603605 186603606 + Frame_Shift_Ins INS - - G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 186603605 186603606 - G INS FSIP2 ENST00000343098 human ensembl 70_37 +1 known frame_shift_ins c.251_252 p.A86fs 0.000:0.000 NULL NULL - no_errors FSIP2 HGNC GAS2L3 283431 genome.wustl.edu 37 12 100994246 100994246 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 12 100994246 100994246 C T SNP GAS2L3 ENST00000266754 human ensembl 70_37 +1 known silent c.105 p.Y35 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC GID4 79018 genome.wustl.edu 37 17 17960241 17960241 + Silent SNP A A G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 17960241 17960241 A G SNP GID4 ENST00000376345 human ensembl 70_37 +1 novel silent c.831 p.P277 0.000 NULL pfam_Vacuolar_import/degrad_Vid24 - no_errors GID4 HGNC GP6 51206 genome.wustl.edu 37 19 55543646 55543646 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 19 55543646 55543646 C T SNP GP6 ENST00000310373 human ensembl 70_37 -1 known silent c.186 p.L62 0.032 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC GPR125 166647 genome.wustl.edu 37 4 22437053 22437053 + Nonsense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 22437053 22437053 G A SNP GPR125 ENST00000334304 human ensembl 70_37 -1 known nonsense c.1324 p.R442* 0.990 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC GPR126 57211 genome.wustl.edu 37 6 142691670 142691670 + Missense_Mutation SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 142691670 142691670 G C SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known missense c.809 p.R270T 0.899 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC GSTZ1 2954 genome.wustl.edu 37 14 77797494 77797494 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 14 77797494 77797494 C T SNP GSTZ1 ENST00000216465 human ensembl 70_37 +1 known missense c.607 p.H203Y 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Mal_ac_isom pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom - no_errors GSTZ1 HGNC HCFC1 3054 genome.wustl.edu 37 X 153227013 153227014 + In_Frame_Ins INS - - TGT TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 153227013 153227014 - TGT INS HCFC1 ENST00000310441 human ensembl 70_37 -1 known in_frame_ins c.884_883 p.295in_frame_insN 0.997:1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC HLA-A 3105 genome.wustl.edu 37 6 29910553 29910556 + Frame_Shift_Del DEL TTTC TTTC - TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 29910553 29910556 TTTC - DEL HLA-A ENST00000376806 human ensembl 70_37 +1 known frame_shift_del c.93_96 p.F32fs 0.268:0.270:0.216:0.061 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ITGB6 3694 genome.wustl.edu 37 2 160998513 160998513 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 160998513 160998513 G A SNP ITGB6 ENST00000283249 human ensembl 70_37 -1 known silent c.1087 p.L363 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB6 HGNC KIAA1614 57710 genome.wustl.edu 37 1 180913548 180913548 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 180913548 180913548 G A SNP KIAA1614 ENST00000367588 human ensembl 70_37 +1 known silent c.3183 p.R1061 1.000 NULL NULL - no_errors KIAA1614 HGNC KIAA1958 158405 genome.wustl.edu 37 9 115380184 115380184 + Missense_Mutation SNP A A T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 115380184 115380184 A T SNP KIAA1958 ENST00000536272 human ensembl 70_37 +1 known missense c.1205 p.E402V 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC LETM1 3954 genome.wustl.edu 37 4 1824750 1824750 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 1824750 1824750 G A SNP LETM1 ENST00000302787 human ensembl 70_37 -1 known missense c.1441 p.R481C 0.004 NULL pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC LINC00623 728855 genome.wustl.edu 37 1 149581062 149581062 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 149581062 149581062 G A SNP LINC00623 ENST00000598569 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-353N4.6 Clone_based_vega_gene LINC00654 149837 genome.wustl.edu 37 20 5480027 5480027 + RNA SNP T T G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 20 5480027 5480027 T G SNP LINC00654 ENST00000379053 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00654 HGNC LRRC8D 55144 genome.wustl.edu 37 1 90400768 90400768 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 90400768 90400768 C T SNP LRRC8D ENST00000337338 human ensembl 70_37 +1 known missense c.2141 p.S714F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC MAPKAPK5 8550 genome.wustl.edu 37 12 112327921 112327921 + Missense_Mutation SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 12 112327921 112327921 G C SNP MAPKAPK5 ENST00000202788 human ensembl 70_37 +1 known missense c.1300 p.D434H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK5 HGNC MPO 4353 genome.wustl.edu 37 17 56357796 56357796 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 56357796 56357796 G A SNP MPO ENST00000340482 human ensembl 70_37 -1 known missense c.179 p.S60L 0.026 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC MUC4 4585 genome.wustl.edu 37 3 195506473 195506473 + Missense_Mutation SNP A A G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 195506473 195506473 A G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11978 p.V3993A 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC NFYB 4801 genome.wustl.edu 37 12 104514219 104514219 + Missense_Mutation SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 12 104514219 104514219 G C SNP NFYB ENST00000240055 human ensembl 70_37 -1 known missense c.550 p.Q184E 1.000 superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors NFYB HGNC NLRP12 91662 genome.wustl.edu 37 19 54308691 54308691 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 19 54308691 54308691 G A SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known missense c.2257 p.R753C 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139399191 139399191 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 139399191 139399191 G A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4952 p.S1651L 0.005 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NRG3 10718 genome.wustl.edu 37 10 83635529 83635529 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 10 83635529 83635529 G A SNP NRG3 ENST00000404547 human ensembl 70_37 +1 known missense c.433 p.A145T 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC NTRK3 4916 genome.wustl.edu 37 15 88576247 88576247 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 15 88576247 88576247 C T SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known missense c.1426 p.D476N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC OR4C3 256144 genome.wustl.edu 37 11 48347444 48347444 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 48347444 48347444 G A SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.952 p.E318K 0.993 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140720212 140720212 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 5 140720212 140720212 C T SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.1674 p.N558 0.003 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC PCSK6 5046 genome.wustl.edu 37 15 101858545 101858545 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 15 101858545 101858545 G A SNP PCSK6 ENST00000348070 human ensembl 70_37 -1 known missense c.2545 p.H849Y 0.983 superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC PHACTR4 65979 genome.wustl.edu 37 1 28696259 28696259 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 28696259 28696259 G A SNP PHACTR4 ENST00000463428 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PHACTR4 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PTPN4 5775 genome.wustl.edu 37 2 120702698 120702698 + Missense_Mutation SNP C C G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 120702698 120702698 C G SNP PTPN4 ENST00000263708 human ensembl 70_37 +1 known missense c.1397 p.P466R 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN4 HGNC RAD51B 5890 genome.wustl.edu 37 14 68290309 68290309 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 14 68290309 68290309 G T SNP RAD51B ENST00000487270 human ensembl 70_37 +1 known missense c.49 p.D17Y 1.000 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC RAD51B 5890 genome.wustl.edu 37 14 68290317 68290317 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 14 68290317 68290317 G A SNP RAD51B ENST00000487270 human ensembl 70_37 +1 known silent c.57 p.L19 0.852 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC RASGRP3 25780 genome.wustl.edu 37 2 33736799 33736799 + RNA SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 33736799 33736799 C T SNP RASGRP3 ENST00000497723 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RASGRP3 HGNC RGS3 5998 genome.wustl.edu 37 9 116263868 116263868 + Missense_Mutation SNP C C A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 116263868 116263868 C A SNP RGS3 ENST00000343817 human ensembl 70_37 +1 known missense c.12 p.F4L 1.000 NULL pfam_Regulat_G_prot_signal,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ROS1 6098 genome.wustl.edu 37 6 117710546 117710546 + Nonsense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 117710546 117710546 G A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known nonsense c.1726 p.Q576* 0.748 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC SCGB1D1 10648 genome.wustl.edu 37 11 61959649 61959649 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 61959649 61959649 G T SNP SCGB1D1 ENST00000306238 human ensembl 70_37 +1 known missense c.177 p.K59N 0.000 pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin - no_errors SCGB1D1 HGNC SCUBE2 57758 genome.wustl.edu 37 11 9055196 9055196 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 9055196 9055196 G T SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known missense c.2150 p.A717D 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC SEC14L1 6397 genome.wustl.edu 37 17 75205475 75205475 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 75205475 75205475 G A SNP SEC14L1 ENST00000392476 human ensembl 70_37 +1 known missense c.1528 p.E510K 1.000 superfamily_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC SERPINC1 462 genome.wustl.edu 37 1 173876634 173876634 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 173876634 173876634 C T SNP SERPINC1 ENST00000367698 human ensembl 70_37 -1 known missense c.1172 p.R391Q 0.769 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINC1 HGNC SLC6A1 6529 genome.wustl.edu 37 3 11059595 11059595 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 11059595 11059595 G T SNP SLC6A1 ENST00000287766 human ensembl 70_37 +1 known missense c.305 p.C102F 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1 - no_errors SLC6A1 HGNC SMYD1 150572 genome.wustl.edu 37 2 88367422 88367422 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 88367422 88367422 C T SNP SMYD1 ENST00000419482 human ensembl 70_37 +1 known silent c.39 p.T13 0.182 smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC SNAP23 8773 genome.wustl.edu 37 15 42821973 42821973 + Nonsense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 15 42821973 42821973 G T SNP SNAP23 ENST00000249647 human ensembl 70_37 +1 known nonsense c.526 p.E176* 1.000 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP23 HGNC SPOP 8405 genome.wustl.edu 37 17 47755313 47755313 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 47755313 47755313 G A SNP SPOP ENST00000502385 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SPOP HGNC ST5 6764 genome.wustl.edu 37 11 8752742 8752742 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 8752742 8752742 G A SNP ST5 ENST00000313726 human ensembl 70_37 -1 known missense c.95 p.S32F 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 ST5 HGNC STARD3 10948 genome.wustl.edu 37 17 37819218 37819218 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 37819218 37819218 G A SNP STARD3 ENST00000580611 human ensembl 70_37 +1 novel missense c.1340 p.R447K 0.015 NULL pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR - no_errors STARD3 HGNC TAS1R1 80835 genome.wustl.edu 37 1 6638780 6638780 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 6638780 6638780 G A SNP TAS1R1 ENST00000328191 human ensembl 70_37 +1 known missense c.1328 p.R443H 0.022 NULL pfam_ANF_lig-bd_rcpt,prints_GPCR_3 - no_errors TAS1R1 HGNC TENM2 57451 genome.wustl.edu 37 5 167551886 167551886 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 5 167551886 167551886 C T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.2040 p.H680 0.982 pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TEX35 84066 genome.wustl.edu 37 1 178491537 178491537 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 178491537 178491537 G A SNP TEX35 ENST00000319416 human ensembl 70_37 +1 known missense c.664 p.A222T 0.001 NULL NULL - no_errors TEX35 HGNC TPTEP1 387590 genome.wustl.edu 37 22 17082954 17082954 + RNA SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 22 17082954 17082954 G C SNP TPTEP1 ENST00000400593 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TPTEP1 HGNC TRIM7 81786 genome.wustl.edu 37 5 180626112 180626112 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 5 180626112 180626112 G T SNP TRIM7 ENST00000274773 human ensembl 70_37 -1 known missense c.855 p.F285L 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC TTI1 9675 genome.wustl.edu 37 20 36641902 36641902 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 20 36641902 36641902 G A SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known missense c.317 p.S106L 0.988 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC UBE3C 9690 genome.wustl.edu 37 7 157046952 157046952 + Silent SNP T T C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 7 157046952 157046952 T C SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known silent c.2898 p.G966 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC UBXN2B 137886 genome.wustl.edu 37 8 59345735 59345735 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 8 59345735 59345735 G A SNP UBXN2B ENST00000399598 human ensembl 70_37 +1 known missense c.356 p.G119E 1.000 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2B HGNC VPS28 51160 genome.wustl.edu 37 8 145650985 145650985 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 8 145650985 145650985 G A SNP VPS28 ENST00000526734 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors VPS28 HGNC WDR48 57599 genome.wustl.edu 37 3 39133113 39133113 + RNA SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 39133113 39133113 C T SNP WDR48 ENST00000466405 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors WDR48 HGNC WDR91 29062 genome.wustl.edu 37 7 134880995 134880995 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 7 134880995 134880995 G A SNP WDR91 ENST00000354475 human ensembl 70_37 -1 known missense c.1145 p.S382L 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ZNF618 114991 genome.wustl.edu 37 9 116790996 116790996 + RNA SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 116790996 116790996 G C SNP ZNF618 ENST00000470105 human ensembl 70_37 +1 known rna NULL NULL 0.916 - - - no_errors ZNF618 HGNC ZNF720 124411 genome.wustl.edu 37 16 31765213 31765213 + Missense_Mutation SNP A A T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 16 31765213 31765213 A T SNP ZNF720 ENST00000399681 human ensembl 70_37 +1 known missense c.155 p.E52V 0.052 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF720 HGNC ZNF746 155061 genome.wustl.edu 37 7 149171621 149171621 + Nonsense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 7 149171621 149171621 G A SNP ZNF746 ENST00000458143 human ensembl 70_37 -1 known nonsense c.1792 p.R598* 0.930 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC