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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCB11 0 genome.wustl.edu 37 2 169851868 169851868 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 169851868 169851868 C T SNP ABCB11 ENST00000263817 human ensembl 69_37n -1 known missense c.602 p.R201K 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 44 0 0.00 37 17 31.48 - - - ACBD5 0 genome.wustl.edu 37 10 27506953 27506953 + Missense_Mutation SNP T T A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 10 27506953 27506953 T A SNP ACBD5 ENST00000375888 human ensembl 69_37n -1 known missense c.812 p.E271V 0.013 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 61 0 0.00 114 34 22.97 - - - ACOT11 0 genome.wustl.edu 37 1 55074840 55074840 + RNA SNP T T A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 55074840 55074840 T A SNP ACOT11 ENST00000481208 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ACOT11 HGNC ENSG00000162390 23 0 0.00 29 4 12.12 - - - ACTA1 0 genome.wustl.edu 37 1 229567561 229567561 + Silent SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 229567561 229567561 G A SNP ACTA1 ENST00000366684 human ensembl 69_37n -1 known silent c.897 p.N299 0.967 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA1 HGNC ENSG00000143632 52 0 0.00 108 27 20.00 - - - AP2A2 0 genome.wustl.edu 37 11 972125 972125 + Splice_Site SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 972125 972125 G A SNP AP2A2 ENST00000529125 human ensembl 69_37n +1 novel splice_site c.342+1 e4+1 1.000 - - - no_errors AP2A2 HGNC ENSG00000183020 155 0 0.00 172 49 21.97 - - - ARSD 0 genome.wustl.edu 37 X 2825134 2825134 + RNA SNP A A G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 X 2825134 2825134 A G SNP ARSD ENST00000495294 human ensembl 69_37n -1 known rna NULL NULL 0.007 - - - no_errors ARSD HGNC ENSG00000006756 12 0 0.00 10 10 50.00 - - - BAI1 0 genome.wustl.edu 37 8 143566039 143566039 + Missense_Mutation SNP T T A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 8 143566039 143566039 T A SNP BAI1 ENST00000323289 human ensembl 69_37n +1 known missense c.2222 p.L741Q 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 81 0 0.00 100 65 39.39 - - - BHMT2 0 genome.wustl.edu 37 5 78384371 78384371 + Missense_Mutation SNP C C G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 5 78384371 78384371 C G SNP BHMT2 ENST00000255192 human ensembl 69_37n +1 known missense c.1066 p.P356A 1.000 superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 36 0 0.00 19 15 44.12 - - - C10orf85 0 genome.wustl.edu 37 10 122357994 122357994 + Missense_Mutation SNP G G T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 10 122357994 122357994 G T SNP C10orf85 ENST00000369071 human ensembl 69_37n +1 known missense c.172 p.A58S 0.017 NULL NULL - no_errors C10orf85 HGNC ENSG00000177234 36 0 0.00 12 17 58.62 - - - C11orf92 0 genome.wustl.edu 37 11 111169110 111169110 + RNA SNP A A T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 111169110 111169110 A T SNP C11orf92 ENST00000526150 human ensembl 69_37n -1 putative rna NULL NULL 1.000 - - - no_errors C11orf92 HGNC ENSG00000196167 38 0 0.00 36 4 10.00 - - - CCT3 0 genome.wustl.edu 37 1 156280797 156280797 + Missense_Mutation SNP G G T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 156280797 156280797 G T SNP CCT3 ENST00000295688 human ensembl 69_37n -1 known missense c.1345 p.R449S 0.999 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 42 0 0.00 55 13 19.12 - - - CD274 0 genome.wustl.edu 37 9 5465705 5465705 + RNA SNP G G T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 9 5465705 5465705 G T SNP CD274 ENST00000492923 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CD274 HGNC ENSG00000120217 14 0 0.00 16 5 23.81 - - - CDK17 0 genome.wustl.edu 37 12 96679861 96679861 + Missense_Mutation SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 12 96679861 96679861 G A SNP CDK17 ENST00000261211 human ensembl 69_37n -1 known missense c.1282 p.P428S 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors CDK17 HGNC ENSG00000059758 34 0 0.00 26 4 13.33 - - - CEACAM4 0 genome.wustl.edu 37 19 42132011 42132011 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 19 42132011 42132011 C T SNP CEACAM4 ENST00000221954 human ensembl 69_37n -1 known missense c.388 p.D130N 0.000 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfscan_Ig-like - no_errors CEACAM4 HGNC ENSG00000105352 74 0 0.00 56 55 49.55 - - - CELF1 0 genome.wustl.edu 37 11 47494725 47494725 + Silent SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 47494725 47494725 G A SNP CELF1 ENST00000532048 human ensembl 69_37n -1 known silent c.1326 p.D442 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 50 0 0.00 59 15 20.27 - - - CHST2 0 genome.wustl.edu 37 3 142840236 142840236 + Missense_Mutation SNP T T C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 142840236 142840236 T C SNP CHST2 ENST00000309575 human ensembl 69_37n +1 known missense c.578 p.L193P 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 60 0 0.00 40 24 36.92 - - - CIB4 0 genome.wustl.edu 37 2 26846282 26846282 + Silent SNP T T C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 26846282 26846282 T C SNP CIB4 ENST00000405346 human ensembl 69_37n -1 putative silent c.192 p.K64 0.001 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB4 HGNC ENSG00000157884 28 0 0.00 29 5 14.71 - - - CMYA5 0 genome.wustl.edu 37 5 79095233 79095233 + Missense_Mutation SNP G G T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 5 79095233 79095233 G T SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.12004 p.V4002L 0.993 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 62 0 0.00 68 29 29.90 - - - CMYA5 0 genome.wustl.edu 37 5 79095234 79095234 + Missense_Mutation SNP T T G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 5 79095234 79095234 T G SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.12005 p.V4002G 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 62 0 0.00 68 28 29.17 - - - CNTN4 0 genome.wustl.edu 37 3 3085388 3085388 + Silent SNP A A G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 3085388 3085388 A G SNP CNTN4 ENST00000397461 human ensembl 69_37n +1 known silent c.2811 p.K937 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 49 0 0.00 28 27 49.09 - - - CWF19L1 0 genome.wustl.edu 37 10 101993082 101993082 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 10 101993082 101993082 C T SNP CWF19L1 ENST00000354105 human ensembl 69_37n -1 known missense c.1519 p.D507N 1.000 pfam_Cwf19-like_C_dom-2 pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 56 0 0.00 37 43 53.75 - - - CYP2U1 0 genome.wustl.edu 37 4 108866300 108866300 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 4 108866300 108866300 C T SNP CYP2U1 ENST00000332884 human ensembl 69_37n +1 known missense c.665 p.S222F 0.997 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 55 0 0.00 38 20 34.48 - - - DPM1 0 genome.wustl.edu 37 20 49562449 49562449 + Missense_Mutation SNP T T C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 20 49562449 49562449 T C SNP DPM1 ENST00000371582 human ensembl 69_37n -1 known missense c.307 p.I103V 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors DPM1 HGNC ENSG00000000419 20 0 0.00 15 49 76.56 - - - DSCR4 0 genome.wustl.edu 37 21 39492422 39492422 + Missense_Mutation SNP C C G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 21 39492422 39492422 C G SNP DSCR4 ENST00000328264 human ensembl 69_37n -1 known missense c.209 p.G70A 0.000 NULL NULL - no_errors DSCR4 HGNC ENSG00000184029 56 0 0.00 193 27 12.27 - - - ECD 0 genome.wustl.edu 37 10 74914034 74914034 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 10 74914034 74914034 C T SNP ECD ENST00000430082 human ensembl 69_37n -1 known missense c.763 p.E255K 1.000 pfam_SGT1 pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 59 0 0.00 90 14 13.46 - - - EEF1A2 0 genome.wustl.edu 37 20 62121849 62121849 + Missense_Mutation SNP C C A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 20 62121849 62121849 C A SNP EEF1A2 ENST00000217182 human ensembl 69_37n -1 known missense c.1012 p.A338S 0.999 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 93 0 0.00 322 49 13.21 - - - ELOVL4 0 genome.wustl.edu 37 6 80629179 80629179 + Missense_Mutation SNP C C A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 6 80629179 80629179 C A SNP ELOVL4 ENST00000369816 human ensembl 69_37n -1 known missense c.627 p.Q209H 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 34 0 0.00 45 12 21.05 - - - EZH1 0 genome.wustl.edu 37 17 40855784 40855784 + Missense_Mutation SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 17 40855784 40855784 G A SNP EZH1 ENST00000428826 human ensembl 69_37n -1 known missense c.2072 p.S691L 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 32 0 0.00 29 4 12.12 - - - F5 0 genome.wustl.edu 37 1 169487737 169487737 + Silent SNP C C A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 169487737 169487737 C A SNP F5 ENST00000367796 human ensembl 69_37n -1 known silent c.6273 p.S2091 0.066 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 67 0 0.00 85 69 44.81 - - - FCGBP 0 genome.wustl.edu 37 19 40421281 40421281 + Silent SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 19 40421281 40421281 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.2640 p.F880 0.052 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 88 0 0.00 88 84 48.84 - - - FERMT3 0 genome.wustl.edu 37 11 63988103 63988103 + Missense_Mutation SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 63988103 63988103 G A SNP FERMT3 ENST00000279227 human ensembl 69_37n +1 known missense c.1519 p.V507I 0.990 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 86 0 0.00 98 12 10.91 - - - FREM2 0 genome.wustl.edu 37 13 39264280 39264280 + Silent SNP C C A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 13 39264280 39264280 C A SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known silent c.2799 p.V933 0.127 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 35 0 0.00 24 26 52.00 - - - GFAP 0 genome.wustl.edu 37 17 42987611 42987611 + Missense_Mutation SNP C C A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 17 42987611 42987611 C A SNP GFAP ENST00000435360 human ensembl 69_37n -1 known missense c.1189 p.D397Y 1.000 NULL pfam_F - no_errors GFAP HGNC ENSG00000131095 39 0 0.00 37 18 32.73 - - - GGA1 0 genome.wustl.edu 37 22 38005244 38005244 + RNA SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 22 38005244 38005244 G A SNP GGA1 ENST00000484804 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors GGA1 HGNC ENSG00000100083 10 0 0.00 12 7 36.84 - - - GIGYF2 0 genome.wustl.edu 37 2 233680382 233680382 + Missense_Mutation SNP G G T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 233680382 233680382 G T SNP GIGYF2 ENST00000373566 human ensembl 69_37n +1 known missense c.2209 p.D737Y 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 203 0 0.00 233 83 26.27 - - - GON4L 0 genome.wustl.edu 37 1 155792255 155792256 + Frame_Shift_Del DEL TT TT - TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 155792255 155792256 TT - DEL GON4L ENST00000368331 human ensembl 69_37n -1 known frame_shift_del c.710_709 p.N237fs 0.000:0.002 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 38 0 0.00 51 49 45.37 - - - GON4L 0 genome.wustl.edu 37 1 155823536 155823536 + Silent SNP T T C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 155823536 155823536 T C SNP GON4L ENST00000368331 human ensembl 69_37n -1 known silent c.36 p.T12 0.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 98 0 0.00 180 34 15.89 - - - GPR142 0 genome.wustl.edu 37 17 72365633 72365633 + Silent SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 17 72365633 72365633 G A SNP GPR142 ENST00000335666 human ensembl 69_37n +1 known silent c.270 p.G90 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 65 0 0.00 72 73 50.34 - - - GPR55 0 genome.wustl.edu 37 2 231775322 231775322 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 231775322 231775322 C T SNP GPR55 ENST00000392039 human ensembl 69_37n -1 known missense c.356 p.R119Q 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR55 HGNC ENSG00000135898 48 0 0.00 55 11 16.67 - - - IGSF10 0 genome.wustl.edu 37 3 151163264 151163264 + Missense_Mutation SNP A A T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 151163264 151163264 A T SNP IGSF10 ENST00000282466 human ensembl 69_37n -1 known missense c.4505 p.V1502E 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 61 0 0.00 41 24 36.92 - - - IGSF22 0 genome.wustl.edu 37 11 18739611 18739611 + Silent SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 18739611 18739611 G A SNP IGSF22 ENST00000513874 human ensembl 69_37n -1 known silent c.840 p.S280 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 68 0 0.00 43 47 52.22 - - - IVL 0 genome.wustl.edu 37 1 152882383 152882383 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 152882383 152882383 C T SNP IVL ENST00000368764 human ensembl 69_37n +1 known missense c.110 p.P37L 0.023 pfam_Involucrin_N pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 36 0 0.00 94 16 14.55 - - - KIDINS220 0 genome.wustl.edu 37 2 8943114 8943114 + Silent SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 8943114 8943114 C T SNP KIDINS220 ENST00000256707 human ensembl 69_37n -1 known silent c.747 p.T249 0.114 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 66 0 0.00 71 46 39.32 - - - KIF17 0 genome.wustl.edu 37 1 20998492 20998492 + Silent SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 20998492 20998492 G A SNP KIF17 ENST00000247986 human ensembl 69_37n -1 known silent c.2661 p.D887 0.899 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 125 0 0.00 98 54 35.29 - - - LEKR1 0 genome.wustl.edu 37 3 156544156 156544156 + RNA SNP C C G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 156544156 156544156 C G SNP LEKR1 ENST00000489350 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RP11-6F2.7 Clone_based_vega_gene ENSG00000197980 81 0 0.00 54 31 36.47 - - - LEPR 0 genome.wustl.edu 37 1 66088677 66088678 + RNA INS - - T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 66088677 66088678 - T INS LEPR ENST00000471762 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.001 - - - no_errors LEPR HGNC ENSG00000116678 46 0 0.00 31 23 42.59 - - - LGR6 0 genome.wustl.edu 37 1 202287564 202287564 + Silent SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 202287564 202287564 C T SNP LGR6 ENST00000367278 human ensembl 69_37n +1 known silent c.2133 p.Y711 0.572 pfam_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 49 0 0.00 113 21 15.67 - - - LIPH 0 genome.wustl.edu 37 3 185229372 185229372 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 185229372 185229372 C T SNP LIPH ENST00000296252 human ensembl 69_37n -1 known missense c.1208 p.G403D 1.000 superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 59 0 0.00 57 26 30.95 - - - LMCD1 0 genome.wustl.edu 37 3 8578971 8578971 + Missense_Mutation SNP T T C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 8578971 8578971 T C SNP LMCD1 ENST00000157600 human ensembl 69_37n +1 known missense c.232 p.Y78H 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 35 0 0.00 34 20 37.04 - - - LRRC37A11P 0 genome.wustl.edu 37 17 37188547 37188547 + RNA SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 17 37188547 37188547 G A SNP LRRC37A11P ENST00000425901 human ensembl 69_37n +1 known rna NULL NULL 0.013 - - - no_errors LRRC37A11P HGNC ENSG00000214553 194 0 0.00 1015 239 19.03 - - - LRRC37A11P 0 genome.wustl.edu 37 17 37190468 37190468 + RNA SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 17 37190468 37190468 G A SNP LRRC37A11P ENST00000425901 human ensembl 69_37n +1 known rna NULL NULL 0.045 - - - no_errors LRRC37A11P HGNC ENSG00000214553 194 0 0.00 811 183 18.41 - - - LRRTM1 0 genome.wustl.edu 37 2 80530244 80530244 + Missense_Mutation SNP G G C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 80530244 80530244 G C SNP LRRTM1 ENST00000295057 human ensembl 69_37n -1 known missense c.701 p.S234C 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 110 0 0.00 139 38 21.35 - - - LRRTM4 0 genome.wustl.edu 37 2 77746565 77746565 + Missense_Mutation SNP T T G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 77746565 77746565 T G SNP LRRTM4 ENST00000409911 human ensembl 69_37n -1 known missense c.433 p.K145Q 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 63 0 0.00 46 23 33.33 - - - LTBP4 0 genome.wustl.edu 37 19 41115529 41115529 + Missense_Mutation SNP C C G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 19 41115529 41115529 C G SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known missense c.1721 p.S574C 0.438 smart_EGF-like,smart_EGF-like_Ca-bd pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 70 0 0.00 82 31 27.43 - - - LTF 0 genome.wustl.edu 37 3 46497446 46497446 + Silent SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 46497446 46497446 G A SNP LTF ENST00000231751 human ensembl 69_37n -1 known silent c.339 p.A113 0.602 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors LTF HGNC ENSG00000012223 56 0 0.00 61 7 10.14 - - - MOSPD2 0 genome.wustl.edu 37 X 14934369 14934369 + Missense_Mutation SNP G G C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 X 14934369 14934369 G C SNP MOSPD2 ENST00000380492 human ensembl 69_37n +1 known missense c.1237 p.E413Q 1.000 pfam_Major_sperm,superfamily_PapD-like,pfscan_Major_sperm pfam_CRAL-TRIO_dom,pfam_Major_sperm,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_Major_sperm - no_errors MOSPD2 HGNC ENSG00000130150 40 0 0.00 28 14 33.33 - - - MYT1L 0 genome.wustl.edu 37 2 1820060 1820060 + RNA SNP T T C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 1820060 1820060 T C SNP MYT1L ENST00000471668 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors MYT1L HGNC ENSG00000186487 47 0 0.00 77 9 10.47 - - - NCOA5 0 genome.wustl.edu 37 20 44695747 44695747 + Missense_Mutation SNP A A C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 20 44695747 44695747 A C SNP NCOA5 ENST00000290231 human ensembl 69_37n -1 known missense c.576 p.F192L 1.000 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 47 0 0.00 115 29 20.14 - - - OR8H1 0 genome.wustl.edu 37 11 56058069 56058069 + Frame_Shift_Del DEL A A - TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 56058069 56058069 A - DEL OR8H1 ENST00000313022 human ensembl 69_37n -1 known frame_shift_del c.470 p.V157fs 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8H1 HGNC ENSG00000181693 87 0 0.00 58 20 25.00 - - - PARP1 0 genome.wustl.edu 37 1 226562032 226562032 + Silent SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 226562032 226562032 C T SNP PARP1 ENST00000366794 human ensembl 69_37n -1 known silent c.1965 p.L655 1.000 pirsf_NAD_ADPRT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 76 0 0.00 108 27 20.00 - - - PCDHA11 0 genome.wustl.edu 37 5 140250555 140250555 + Missense_Mutation SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 5 140250555 140250555 G A SNP PCDHA11 ENST00000398640 human ensembl 69_37n +1 known missense c.1867 p.V623M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 143 0 0.00 120 67 35.83 - - - PCDHB6 0 genome.wustl.edu 37 5 140531179 140531179 + Silent SNP C C A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 5 140531179 140531179 C A SNP PCDHB6 ENST00000231136 human ensembl 69_37n +1 known silent c.1341 p.P447 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 122 0 0.00 113 51 31.10 - - - PDE1C 0 genome.wustl.edu 37 7 31917594 31917594 + Nonsense_Mutation SNP C C A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 7 31917594 31917594 C A SNP PDE1C ENST00000321453 human ensembl 69_37n -1 known nonsense c.481 p.E161* 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 47 0 0.00 80 18 18.18 - - - PDILT 0 genome.wustl.edu 37 16 20387447 20387447 + Silent SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 16 20387447 20387447 G A SNP PDILT ENST00000302451 human ensembl 69_37n -1 known silent c.486 p.S162 0.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 91 0 0.00 161 35 17.77 - - - PHLDB1 0 genome.wustl.edu 37 11 118509627 118509627 + Missense_Mutation SNP G G C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 118509627 118509627 G C SNP PHLDB1 ENST00000361417 human ensembl 69_37n +1 known missense c.2554 p.D852H 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 72 0 0.00 89 47 34.56 - - - PHLDB1 0 genome.wustl.edu 37 11 118509911 118509911 + Missense_Mutation SNP G G C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 118509911 118509911 G C SNP PHLDB1 ENST00000361417 human ensembl 69_37n +1 known missense c.2678 p.R893T 0.994 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 41 0 0.00 25 12 32.43 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 ENSG00000121879 52 0 0.00 19 46 70.77 - - - PRKACG 0 genome.wustl.edu 37 9 71628481 71628481 + Missense_Mutation SNP G G C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 9 71628481 71628481 G C SNP PRKACG ENST00000377276 human ensembl 69_37n -1 known missense c.528 p.D176E 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 50 0 0.00 44 32 42.11 - - - PRKCA 0 genome.wustl.edu 37 17 64731690 64731690 + Silent SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 17 64731690 64731690 C T SNP PRKCA ENST00000413366 human ensembl 69_37n +1 known silent c.1140 p.D380 0.655 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 105 0 0.00 114 34 22.97 - - - PWWP2A 0 genome.wustl.edu 37 5 159520690 159520690 + Missense_Mutation SNP C C G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 5 159520690 159520690 C G SNP PWWP2A ENST00000307063 human ensembl 69_37n -1 known missense c.967 p.D323H 1.000 NULL pfam_PWWP,smart_PWWP,pfscan_PWWP - no_errors PWWP2A HGNC ENSG00000170234 70 0 0.00 86 11 11.34 - - - RHD 0 genome.wustl.edu 37 1 25634205 25634205 + Missense_Mutation SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 25634205 25634205 G A SNP RHD ENST00000342055 human ensembl 69_37n +1 putative missense c.1141 p.V381M 0.009 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 79 0 0.00 19 4 17.39 - - - RP1L1 0 genome.wustl.edu 37 8 10480628 10480628 + Silent SNP G G T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 8 10480628 10480628 G T SNP RP1L1 ENST00000382483 human ensembl 69_37n -1 known silent c.84 p.T28 0.998 superfamily_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 24 0 0.00 29 15 34.09 - - - SDHAP1 0 genome.wustl.edu 37 3 195712586 195712586 + RNA SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 195712586 195712586 C T SNP SDHAP1 ENST00000413474 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 99 1 1.00 31 5 13.89 - - - SEPP1 0 genome.wustl.edu 37 5 42808293 42808293 + Missense_Mutation SNP G G C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 5 42808293 42808293 G C SNP SEPP1 ENST00000506577 human ensembl 69_37n -1 known missense c.163 p.L55V 1.000 pfam_Selenoprotein-P_N pfam_Selenoprotein-P_N,pfam_SelP_C - pseudogene SEPP1 HGNC ENSG00000250722 81 0 0.00 125 18 12.59 - - - SHANK2-AS3 0 genome.wustl.edu 37 11 70709531 70709531 + RNA SNP C C A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 70709531 70709531 C A SNP SHANK2-AS3 ENST00000307548 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors SHANK2-AS3 HGNC ENSG00000171671 54 0 0.00 61 30 32.97 - - - SLC24A4 0 genome.wustl.edu 37 14 92790284 92790284 + Missense_Mutation SNP C C G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 14 92790284 92790284 C G SNP SLC24A4 ENST00000532405 human ensembl 69_37n +1 known missense c.110 p.S37C 0.995 NULL pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A4 HGNC ENSG00000140090 166 0 0.00 177 63 26.14 - - - SNORA75 0 genome.wustl.edu 37 2 232320618 232320618 + RNA SNP G G A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 232320618 232320618 G A SNP SNORA75 ENST00000384158 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SNORA75 HGNC ENSG00000206885 34 0 0.00 50 22 30.56 - - - SPHKAP 0 genome.wustl.edu 37 2 228882097 228882097 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 228882097 228882097 C T SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known missense c.3473 p.S1158N 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 16 0 0.00 35 9 20.45 - - - SPHKAP 0 genome.wustl.edu 37 2 228883414 228883414 + Missense_Mutation SNP A A G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 228883414 228883414 A G SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known missense c.2156 p.F719S 0.999 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 53 0 0.00 63 24 27.59 - - - SRP68 0 genome.wustl.edu 37 17 74042252 74042252 + Nonsense_Mutation SNP G G C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 17 74042252 74042252 G C SNP SRP68 ENST00000307877 human ensembl 69_37n -1 known nonsense c.1166 p.S389* 0.998 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 79 0 0.00 55 21 27.63 - - - STAG1 0 genome.wustl.edu 37 3 136059362 136059362 + Missense_Mutation SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 3 136059362 136059362 C T SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.3643 p.E1215K 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 36 0 0.00 20 12 37.50 - - - TEX36 0 genome.wustl.edu 37 10 127344640 127344640 + Silent SNP T T C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 10 127344640 127344640 T C SNP TEX36 ENST00000368821 human ensembl 69_37n -1 known silent c.390 p.V130 0.000 NULL NULL - no_errors TEX36 HGNC ENSG00000175018 61 0 0.00 86 10 10.42 - - - TPCN2 0 genome.wustl.edu 37 11 68821648 68821648 + RNA SNP G G C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 11 68821648 68821648 G C SNP TPCN2 ENST00000534832 human ensembl 69_37n +1 putative rna NULL NULL 0.180 - - - no_errors TPCN2 HGNC ENSG00000162341 26 0 0.00 35 6 14.63 - - - TRPM8 0 genome.wustl.edu 37 2 234891789 234891789 + Missense_Mutation SNP G G C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 2 234891789 234891789 G C SNP TRPM8 ENST00000324695 human ensembl 69_37n +1 known missense c.2682 p.Q894H 0.356 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 60 0 0.00 100 34 25.37 - - - TUBA3C 0 genome.wustl.edu 37 13 19751148 19751148 + Silent SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 13 19751148 19751148 C T SNP TUBA3C ENST00000400113 human ensembl 69_37n -1 known silent c.975 p.P325 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 158 0 0.00 59 131 68.95 - - - UBR1 0 genome.wustl.edu 37 15 43360113 43360113 + Missense_Mutation SNP T T C TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 15 43360113 43360113 T C SNP UBR1 ENST00000290650 human ensembl 69_37n -1 known missense c.781 p.T261A 0.777 pfam_ClpS_core,superfamily_Ribosomal_L7/12_C/ClpS-like pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 39 0 0.00 40 30 42.25 - - - ZBTB7B 0 genome.wustl.edu 37 1 154988894 154988894 + Silent SNP C C A TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 1 154988894 154988894 C A SNP ZBTB7B ENST00000417934 human ensembl 69_37n +1 known silent c.1455 p.G485 1.000 pfscan_Znf_C2H2 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 ZBTB7B HGNC ENSG00000160685 59 0 0.00 132 20 13.07 - - - ZMYM3 0 genome.wustl.edu 37 X 70467295 70467295 + Missense_Mutation SNP C C G TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 X 70467295 70467295 C G SNP ZMYM3 ENST00000373988 human ensembl 69_37n -1 known missense c.2220 p.Q740H 1.000 pfam_Znf_MYM,smart_TRASH pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 39 0 0.00 74 9 10.84 - - - ZNF536 0 genome.wustl.edu 37 19 30935417 30935417 + Silent SNP C C T TCGA-A7-A4SF-01A-11D-A25Q-09 TCGA-A7-A4SF-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd6babb0-c2bb-4a12-b522-448f993e86f0 7b28f197-a6a1-4649-a37e-fd1b63fe3a57 19 30935417 30935417 C T SNP ZNF536 ENST00000355537 human ensembl 69_37n +1 known silent c.948 p.I316 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 59 0 0.00 91 38 29.46 - - -