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 ACAT2 0 genome.wustl.edu 37 6 160189602 160189602 + Silent SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 160189602 160189602 C T SNP ACAT2 ENST00000541436 human ensembl 69_37n +1 known silent c.519 p.D173 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT2 HGNC ENSG00000120437 89 0 0.00 259 126 32.73 - - - ADAMTS14 0 genome.wustl.edu 37 10 72498656 72498656 + Missense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 10 72498656 72498656 G T SNP ADAMTS14 ENST00000373208 human ensembl 69_37n +1 known missense c.1667 p.G556V 1.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 88 0 0.00 53 53 50.00 - - - ADCY9 0 genome.wustl.edu 37 16 4057542 4057542 + Missense_Mutation SNP T T A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 4057542 4057542 T A SNP ADCY9 ENST00000294016 human ensembl 69_37n -1 known missense c.1711 p.I571L 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 104 0 0.00 78 36 31.58 - - - AIM1 0 genome.wustl.edu 37 6 106967226 106967226 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 106967226 106967226 G C SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.919 p.A307P 1.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 60 0 0.00 91 50 35.46 - - - ALMS1 0 genome.wustl.edu 37 2 73747041 73747041 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 73747041 73747041 C T SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.9676 p.H3226Y 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 301 0 0.00 190 73 27.76 - - - ANKRD30A 0 genome.wustl.edu 37 10 37490246 37490246 + Missense_Mutation SNP A A T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 10 37490246 37490246 A T SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known missense c.2694 p.K898N 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 107 0 0.00 113 60 34.68 - - - ARID3C 0 genome.wustl.edu 37 9 34623463 34623463 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 9 34623463 34623463 G A SNP ARID3C ENST00000378909 human ensembl 69_37n -1 known missense c.824 p.A275V 0.002 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3C HGNC ENSG00000205143 8 0 0.00 14 13 48.15 - - - B3GALT1 0 genome.wustl.edu 37 2 168725803 168725803 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 168725803 168725803 G A SNP B3GALT1 ENST00000305861 human ensembl 69_37n +1 known missense c.254 p.S85N 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC ENSG00000172318 141 0 0.00 73 42 36.52 - - - BBS2 0 genome.wustl.edu 37 16 56553673 56553673 + Silent SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 56553673 56553673 G A SNP BBS2 ENST00000245157 human ensembl 69_37n -1 known silent c.102 p.A34 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 38 0 0.00 72 28 28.00 - - - BCL2L11 0 genome.wustl.edu 37 2 111881572 111881572 + Missense_Mutation SNP A A G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 111881572 111881572 A G SNP BCL2L11 ENST00000393256 human ensembl 69_37n +1 known missense c.250 p.R84G 1.000 pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 15 0 0.00 151 76 33.48 - - - BRCA2 0 genome.wustl.edu 37 13 32936802 32936802 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 13 32936802 32936802 G C SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known missense c.7948 p.E2650Q 1.000 pfam_DNA_recomb/repair_BRCA2_hlx,superfamily_DNA_recomb/repair_BRCA2_hlx,pirsf_DNA_recomb/repair_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 313 0 0.00 120 61 33.70 - - - C15orf39 0 genome.wustl.edu 37 15 75500670 75500670 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 15 75500670 75500670 G A SNP C15orf39 ENST00000360639 human ensembl 69_37n +1 known missense c.2281 p.D761N 0.000 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 22 0 0.00 58 10 14.49 - - - C20orf195 0 genome.wustl.edu 37 20 62187736 62187736 + Silent SNP T T C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 20 62187736 62187736 T C SNP C20orf195 ENST00000370097 human ensembl 69_37n +1 known silent c.720 p.Y240 0.033 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 13 0 0.00 19 15 42.86 - - - C5orf60 0 genome.wustl.edu 37 5 179069969 179069969 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 5 179069969 179069969 G C SNP C5orf60 ENST00000448248 human ensembl 69_37n -1 known missense c.584 p.S195C 0.013 NULL NULL - no_errors C5orf60 HGNC ENSG00000204661 131 0 0.00 126 102 44.74 - - - CACNA1B 0 genome.wustl.edu 37 9 140970316 140970316 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 9 140970316 140970316 C T SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known missense c.4906 p.H1636Y 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 123 0 0.00 74 65 46.76 - - - CAD 0 genome.wustl.edu 37 2 27448725 27448725 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 27448725 27448725 C A SNP CAD ENST00000264705 human ensembl 69_37n +1 known missense c.1773 p.D591E 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk - no_errors CAD HGNC ENSG00000084774 162 0 0.00 275 124 31.08 - - - CALCA 0 genome.wustl.edu 37 11 14989307 14989307 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 11 14989307 14989307 G C SNP CALCA ENST00000361010 human ensembl 69_37n -1 known missense c.321 p.N107K 0.995 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCA HGNC ENSG00000110680 133 0 0.00 91 30 24.59 - - - CCDC170 0 genome.wustl.edu 37 6 151907108 151907108 + Missense_Mutation SNP A A G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 151907108 151907108 A G SNP CCDC170 ENST00000367290 human ensembl 69_37n +1 known missense c.1177 p.R393G 1.000 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 115 0 0.00 248 84 25.30 - - - CEACAM21 0 genome.wustl.edu 37 19 42085765 42085765 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 42085765 42085765 G A SNP CEACAM21 ENST00000401445 human ensembl 69_37n +1 known missense c.484 p.V162M 0.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM21 HGNC ENSG00000007129 133 0 0.00 38 38 49.35 - - - CHRM2 0 genome.wustl.edu 37 7 136700174 136700174 + Missense_Mutation SNP T T A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 7 136700174 136700174 T A SNP CHRM2 ENST00000320658 human ensembl 69_37n +1 known missense c.562 p.F188I 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 100 0 0.00 74 27 26.73 - - - CNTNAP5 0 genome.wustl.edu 37 2 125262113 125262113 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 125262113 125262113 G A SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known missense c.1304 p.R435H 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,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,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 178 0 0.00 75 41 35.04 - - - CREBBP 0 genome.wustl.edu 37 16 3823824 3823825 + Frame_Shift_Ins INS - - T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 3823824 3823825 - T INS CREBBP ENST00000262367 human ensembl 69_37n -1 known frame_shift_ins c.2391_2390 p.N797fs 0.983:0.987 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 60 0 0.00 46 15 24.59 - - - CTCF 0 genome.wustl.edu 37 16 67645308 67645308 + Nonsense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 67645308 67645308 G A SNP CTCF ENST00000264010 human ensembl 69_37n +1 known nonsense c.573 p.W191* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 101 0 0.00 109 60 35.50 - - - CTSF 0 genome.wustl.edu 37 11 66335548 66335548 + Silent SNP A A G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 11 66335548 66335548 A G SNP CTSF ENST00000310325 human ensembl 69_37n -1 known silent c.219 p.G73 0.030 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 8 0 0.00 26 12 24.49 - - - CTTNBP2NL 0 genome.wustl.edu 37 1 112999478 112999478 + Missense_Mutation SNP T T A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 112999478 112999478 T A SNP CTTNBP2NL ENST00000271277 human ensembl 69_37n +1 known missense c.1364 p.I455N 1.000 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 135 0 0.00 128 31 19.38 - - - CUL5 0 genome.wustl.edu 37 11 107968417 107968417 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 11 107968417 107968417 G A SNP CUL5 ENST00000393094 human ensembl 69_37n +1 known missense c.1960 p.V654I 1.000 pfam_Cullin_N,superfamily_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 201 0 0.00 129 131 50.19 - - - CYFIP1 0 genome.wustl.edu 37 15 22960793 22960793 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 15 22960793 22960793 G C SNP CYFIP1 ENST00000313077 human ensembl 69_37n +1 known missense c.1986 p.E662D 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 23 0 0.00 33 6 15.38 - - - DGKI 0 genome.wustl.edu 37 7 137266623 137266623 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 7 137266623 137266623 C A SNP DGKI ENST00000424189 human ensembl 69_37n -1 known missense c.1615 p.V539F 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 130 0 0.00 91 147 61.76 - - - DHX40 0 genome.wustl.edu 37 17 57654510 57654510 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 17 57654510 57654510 G A SNP DHX40 ENST00000451169 human ensembl 69_37n +1 known missense c.781 p.V261M 0.140 smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 29 0 0.00 47 7 12.96 - - - DNAH6 0 genome.wustl.edu 37 2 84785059 84785059 + Missense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 84785059 84785059 G T SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.1803 p.K601N 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 54 0 0.00 81 34 29.57 - - - DND1 0 genome.wustl.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 5 140052285 140052285 T - DEL DND1 ENST00000542735 human ensembl 69_37n -1 known frame_shift_del c.349 p.T117fs 0.986 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DND1 HGNC ENSG00000256453 8 0 0.00 4 2 33.33 - - - DNMBP 0 genome.wustl.edu 37 10 101648689 101648689 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 10 101648689 101648689 C T SNP DNMBP ENST00000342239 human ensembl 69_37n -1 known missense c.3250 p.V1084M 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors DNMBP HGNC ENSG00000107554 100 0 0.00 135 59 30.41 - - - DOCK11 0 genome.wustl.edu 37 X 117814519 117814519 + Silent SNP A A G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a X 117814519 117814519 A G SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known silent c.5535 p.K1845 1.000 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 191 0 0.00 139 87 38.50 - - - DRAM1 0 genome.wustl.edu 37 12 102295135 102295135 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 12 102295135 102295135 C T SNP DRAM1 ENST00000258534 human ensembl 69_37n +1 known missense c.266 p.T89I 0.727 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM1 HGNC ENSG00000136048 348 1 0.29 561 289 34.00 - - - DST 0 genome.wustl.edu 37 6 56357785 56357785 + Missense_Mutation SNP A A T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 56357785 56357785 A T SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.20404 p.S6802T 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 276 0 0.00 194 92 32.17 - - - ERBB4 0 genome.wustl.edu 37 2 212248654 212248654 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 212248654 212248654 C T SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known missense c.3613 p.E1205K 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 261 0 0.00 190 107 36.03 - - - ERLEC1 0 genome.wustl.edu 37 2 54035587 54035587 + Missense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 54035587 54035587 G T SNP ERLEC1 ENST00000185150 human ensembl 69_37n +1 known missense c.1031 p.C344F 1.000 pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 217 0 0.00 270 75 21.74 - - - EXOC1 0 genome.wustl.edu 37 4 56744164 56744164 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 4 56744164 56744164 C T SNP EXOC1 ENST00000346134 human ensembl 69_37n +1 known missense c.1156 p.L386F 1.000 pfam_Exocyst_Exoc1 pfam_Exocyst_Exoc1 - no_errors EXOC1 HGNC ENSG00000090989 135 0 0.00 248 128 34.04 - - - FADS2 0 genome.wustl.edu 37 11 61608167 61608167 + Silent SNP T T A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 11 61608167 61608167 T A SNP FADS2 ENST00000278840 human ensembl 69_37n +1 known silent c.588 p.L196 0.000 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5 - no_errors FADS2 HGNC ENSG00000134824 134 0 0.00 289 140 32.63 - - - FLG 0 genome.wustl.edu 37 1 152280687 152280687 + Silent SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 152280687 152280687 C A SNP FLG ENST00000368799 human ensembl 69_37n -1 known silent c.6675 p.V2225 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 161 0 0.00 490 257 30.93 - - - FMN2 0 genome.wustl.edu 37 1 240497202 240497202 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 240497202 240497202 C A SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.4600 p.L1534I 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 144 0 0.00 185 65 25.90 - - - FZD7 0 genome.wustl.edu 37 2 202899638 202899638 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 202899638 202899638 G C SNP FZD7 ENST00000286201 human ensembl 69_37n +1 known missense c.268 p.V90L 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 19 0 0.00 104 37 26.24 - - - GATM 0 genome.wustl.edu 37 15 45658366 45658366 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 15 45658366 45658366 C A SNP GATM ENST00000396659 human ensembl 69_37n -1 known missense c.856 p.A286S 0.999 NULL NULL - no_errors GATM HGNC ENSG00000171766 136 0 0.00 115 99 46.26 - - - GNAQ 0 genome.wustl.edu 37 9 80412549 80412549 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 9 80412549 80412549 C A SNP GNAQ ENST00000286548 human ensembl 69_37n -1 known missense c.492 p.L164F 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA - no_errors GNAQ HGNC ENSG00000156052 112 1 0.88 135 20 12.90 - - - GON4L 0 genome.wustl.edu 37 1 155753882 155753882 + Splice_Site SNP T T G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 155753882 155753882 T G SNP GON4L ENST00000368331 human ensembl 69_37n -1 known splice_site c.1789-2 e13-2 0.986 - - - no_errors GON4L HGNC ENSG00000116580 123 0 0.00 325 136 29.50 - - - HAO2 0 genome.wustl.edu 37 1 119927617 119927617 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 119927617 119927617 G A SNP HAO2 ENST00000361035 human ensembl 69_37n +1 known missense c.541 p.D181N 0.159 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 187 0 0.00 117 47 28.66 - - - HERC2 0 genome.wustl.edu 37 15 28501091 28501092 + Frame_Shift_Del DEL AG AG - TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 15 28501091 28501092 AG - DEL HERC2 ENST00000261609 human ensembl 69_37n -1 known frame_shift_del c.2798_2797 p.L933fs 0.992:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 211 0 0.00 233 46 16.49 - - - HIVEP2 0 genome.wustl.edu 37 6 143091275 143091275 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 143091275 143091275 C A SNP HIVEP2 ENST00000012134 human ensembl 69_37n -1 known missense c.4601 p.R1534M 0.786 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 89 0 0.00 109 55 33.33 - - - HYDIN 0 genome.wustl.edu 37 16 71098655 71098655 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 71098655 71098655 G C SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.2164 p.L722V 0.993 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 303 0 0.00 214 98 31.41 - - - IGDCC3 0 genome.wustl.edu 37 15 65667575 65667575 + Missense_Mutation SNP A A C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 15 65667575 65667575 A C SNP IGDCC3 ENST00000327987 human ensembl 69_37n -1 known missense c.269 p.L90W 0.913 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 IGDCC3 HGNC ENSG00000174498 31 0 0.00 58 26 30.95 - - - IGHV3-11 0 genome.wustl.edu 37 14 106573233 106573233 + Silent SNP T T C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 14 106573233 106573233 T C SNP IGHV3-11 ENST00000390601 human ensembl 69_37n -1 known silent c.351 p.R117 0.035 smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-11 HGNC ENSG00000211941 42 0 0.00 112 16 12.50 - - - IL6R 0 genome.wustl.edu 37 1 154437823 154437823 + Missense_Mutation SNP C C G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 154437823 154437823 C G SNP IL6R ENST00000368485 human ensembl 69_37n +1 known missense c.1374 p.D458E 0.245 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL6R HGNC ENSG00000160712 92 0 0.00 81 28 25.69 - - - INSRR 0 genome.wustl.edu 37 1 156814280 156814283 + Frame_Shift_Del DEL CTGT CTGT - TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 156814280 156814283 CTGT - DEL INSRR ENST00000368195 human ensembl 69_37n -1 known frame_shift_del c.2711_2708 p.D903fs 0.005:0.003:0.002:0.830 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,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 INSRR HGNC ENSG00000027644 59 0 0.00 56 23 29.11 - - - IQSEC2 0 genome.wustl.edu 37 X 53268410 53268410 + Missense_Mutation SNP C C G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a X 53268410 53268410 C G SNP IQSEC2 ENST00000396435 human ensembl 69_37n -1 known missense c.3082 p.V1028L 1.000 smart_Pleckstrin_homology pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 358 0 0.00 178 44 19.82 - - - ITGAD 0 genome.wustl.edu 37 16 31422067 31422067 + Silent SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 31422067 31422067 C A SNP ITGAD ENST00000389202 human ensembl 69_37n +1 known silent c.1224 p.T408 0.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 37 0 0.00 30 17 36.17 - - - KIAA1804 0 genome.wustl.edu 37 1 233515008 233515008 + Silent SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 233515008 233515008 G A SNP KIAA1804 ENST00000366624 human ensembl 69_37n +1 known silent c.2256 p.L752 0.632 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors RP5-862P8.2 Clone_based_vega_gene ENSG00000143674 132 0 0.00 92 76 44.97 - - - KIR2DL3 0 genome.wustl.edu 37 19 55250982 55250982 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 55250982 55250982 C T SNP KIR2DL3 ENST00000434419 human ensembl 69_37n +1 known missense c.64 p.H22Y 0.041 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 187 0 0.00 345 238 40.82 - - - KLK8 0 genome.wustl.edu 37 19 51503734 51503734 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 51503734 51503734 C A SNP KLK8 ENST00000391806 human ensembl 69_37n -1 known missense c.311 p.G104V 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 47 0 0.00 38 9 19.15 - - - KREMEN1 0 genome.wustl.edu 37 22 29521252 29521252 + Missense_Mutation SNP T T G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 22 29521252 29521252 T G SNP KREMEN1 ENST00000327813 human ensembl 69_37n +1 known missense c.479 p.F160C 1.000 pirsf_Kremen,pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 105 0 0.00 177 91 33.96 - - - LRP8 0 genome.wustl.edu 37 1 53727829 53727829 + Missense_Mutation SNP A A G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 53727829 53727829 A G SNP LRP8 ENST00000306052 human ensembl 69_37n -1 known missense c.1825 p.S609P 0.995 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP8 HGNC ENSG00000157193 119 0 0.00 116 17 12.78 - - - LRRFIP1 0 genome.wustl.edu 37 2 238671248 238671248 + Missense_Mutation SNP A A G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 238671248 238671248 A G SNP LRRFIP1 ENST00000392000 human ensembl 69_37n +1 known missense c.892 p.R298G 1.000 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC ENSG00000124831 65 0 0.00 83 33 28.45 - - - MIS18BP1 0 genome.wustl.edu 37 14 45711518 45711518 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 14 45711518 45711518 G C SNP MIS18BP1 ENST00000310806 human ensembl 69_37n -1 known missense c.862 p.L288V 0.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 155 0 0.00 76 46 37.70 - - - MYO18B 0 genome.wustl.edu 37 22 26422671 26422671 + Missense_Mutation SNP C C G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 22 26422671 26422671 C G SNP MYO18B ENST00000335473 human ensembl 69_37n +1 known missense c.6731 p.P2244R 0.998 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 63 0 0.00 42 18 30.00 - - - NAALADL1 0 genome.wustl.edu 37 11 64825817 64825817 + Silent SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 11 64825817 64825817 C T SNP NAALADL1 ENST00000358658 human ensembl 69_37n -1 known silent c.177 p.E59 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 37 0 0.00 39 23 35.94 - - - NFIA 0 genome.wustl.edu 37 1 61869882 61869882 + Silent SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 61869882 61869882 G A SNP NFIA ENST00000371189 human ensembl 69_37n +1 known silent c.1317 p.E439 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 131 0 0.00 193 147 43.24 - - - NKD1 0 genome.wustl.edu 37 16 50664794 50664794 + Missense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 50664794 50664794 G T SNP NKD1 ENST00000268459 human ensembl 69_37n +1 known missense c.668 p.W223L 0.999 NULL pfscan_EF_HAND_2 - no_errors NKD1 HGNC ENSG00000140807 119 0 0.00 34 18 34.62 - - - NPTXR 0 genome.wustl.edu 37 22 39218758 39218758 + Silent SNP C C G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 22 39218758 39218758 C G SNP NPTXR ENST00000333039 human ensembl 69_37n -1 known silent c.1359 p.L453 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 40 0 0.00 50 17 25.37 - - - NR2E1 0 genome.wustl.edu 37 6 108502082 108502082 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 108502082 108502082 G C SNP NR2E1 ENST00000368986 human ensembl 69_37n +1 known missense c.811 p.V271L 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 54 0 0.00 117 71 37.77 - - - NUMA1 0 genome.wustl.edu 37 11 71726884 71726884 + Missense_Mutation SNP C C G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 11 71726884 71726884 C G SNP NUMA1 ENST00000393695 human ensembl 69_37n -1 known missense c.1665 p.Q555H 0.998 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 48 0 0.00 170 87 33.85 - - - OGDHL 0 genome.wustl.edu 37 10 50946058 50946058 + Missense_Mutation SNP A A T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 10 50946058 50946058 A T SNP OGDHL ENST00000374103 human ensembl 69_37n -1 known missense c.2452 p.C818S 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 175 0 0.00 152 54 26.09 - - - OR4K2 0 genome.wustl.edu 37 14 20344945 20344945 + Missense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 14 20344945 20344945 G T SNP OR4K2 ENST00000298642 human ensembl 69_37n +1 known missense c.519 p.E173D 0.000 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 OR4K2 HGNC ENSG00000165762 122 0 0.00 260 131 33.50 - - - PCCB 0 genome.wustl.edu 37 3 136045650 136045650 + Missense_Mutation SNP T T G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 3 136045650 136045650 T G SNP PCCB ENST00000251654 human ensembl 69_37n +1 known missense c.1096 p.L366V 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 329 0 0.00 194 189 49.35 - - - PDE4DIP 0 genome.wustl.edu 37 1 144921921 144921921 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 144921921 144921921 C T SNP PDE4DIP ENST00000369356 human ensembl 69_37n -1 known missense c.1108 p.A370T 0.977 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 206 0 0.00 398 94 19.11 - - - PKHD1 0 genome.wustl.edu 37 6 51890477 51890477 + Silent SNP A A G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 51890477 51890477 A G SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known silent c.4131 p.N1377 0.013 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 101 0 0.00 61 27 30.68 - - - POU2F2 0 genome.wustl.edu 37 19 42626508 42626508 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 42626508 42626508 G C SNP POU2F2 ENST00000342301 human ensembl 69_37n -1 known missense c.117 p.D39E 0.998 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 121 0 0.00 221 41 15.65 - - - PRDM1 0 genome.wustl.edu 37 6 106553082 106553082 + Missense_Mutation SNP C C G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 106553082 106553082 C G SNP PRDM1 ENST00000369096 human ensembl 69_37n +1 known missense c.1047 p.S349R 1.000 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 70 0 0.00 38 9 19.15 - - - PRKG2 0 genome.wustl.edu 37 4 82125781 82125781 + Missense_Mutation SNP C C G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 4 82125781 82125781 C G SNP PRKG2 ENST00000264399 human ensembl 69_37n -1 known missense c.421 p.E141Q 0.952 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 46 0 0.00 48 35 42.17 - - - PROC 0 genome.wustl.edu 37 2 128186352 128186352 + Missense_Mutation SNP A A G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 128186352 128186352 A G SNP PROC ENST00000453608 human ensembl 69_37n +1 known missense c.1381 p.M461V 1.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors PROC HGNC ENSG00000115718 12 0 0.00 27 12 30.00 - - - PROL1 0 genome.wustl.edu 37 4 71275628 71275628 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 4 71275628 71275628 G A SNP PROL1 ENST00000399575 human ensembl 69_37n +1 putative missense c.583 p.A195T 0.009 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 770 0 0.00 456 218 32.20 - - - PUM1 0 genome.wustl.edu 37 1 31439034 31439034 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 31439034 31439034 C T SNP PUM1 ENST00000525843 human ensembl 69_37n -1 putative missense c.1933 p.A645T 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PUM1 HGNC ENSG00000134644 243 0 0.00 313 121 27.50 - - - QRICH2 0 genome.wustl.edu 37 17 74288109 74288109 + Missense_Mutation SNP C C G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 17 74288109 74288109 C G SNP QRICH2 ENST00000262765 human ensembl 69_37n -1 known missense c.2201 p.G734A 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 58 0 0.00 161 44 21.46 - - - RLF 0 genome.wustl.edu 37 1 40654877 40654877 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 40654877 40654877 G C SNP RLF ENST00000372771 human ensembl 69_37n +1 known missense c.388 p.V130L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 241 0 0.00 188 78 29.32 - - - SAFB2 0 genome.wustl.edu 37 19 5590388 5590388 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 5590388 5590388 C T SNP SAFB2 ENST00000252542 human ensembl 69_37n -1 known missense c.2426 p.G809E 0.917 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 9 0 0.00 2 5 71.43 - - - SCN7A 0 genome.wustl.edu 37 2 167262191 167262191 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 167262191 167262191 C A SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known missense c.4948 p.D1650Y 0.018 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 363 0 0.00 228 98 30.06 - - - SEMA4A 0 genome.wustl.edu 37 1 156124481 156124481 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 156124481 156124481 C T SNP SEMA4A ENST00000355014 human ensembl 69_37n +1 known missense c.112 p.P38S 0.586 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4A HGNC ENSG00000196189 38 0 0.00 28 14 29.79 - - - SFXN5 0 genome.wustl.edu 37 2 73268023 73268023 + Missense_Mutation SNP T T G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 73268023 73268023 T G SNP SFXN5 ENST00000272433 human ensembl 69_37n -1 known missense c.209 p.Y70S 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN5 HGNC ENSG00000144040 66 0 0.00 89 47 34.56 - - - SIGLEC1 0 genome.wustl.edu 37 20 3686511 3686511 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 20 3686511 3686511 C T SNP SIGLEC1 ENST00000344754 human ensembl 69_37n -1 known missense c.586 p.V196I 0.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 28 0 0.00 63 30 32.26 - - - SLC17A8 0 genome.wustl.edu 37 12 100795569 100795569 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 12 100795569 100795569 G A SNP SLC17A8 ENST00000323346 human ensembl 69_37n +1 known missense c.691 p.A231T 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 229 0 0.00 671 259 27.82 - - - SLC25A14 0 genome.wustl.edu 37 X 129483303 129483303 + Silent SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a X 129483303 129483303 C T SNP SLC25A14 ENST00000339231 human ensembl 69_37n +1 known silent c.387 p.F129 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A14 HGNC ENSG00000102078 286 0 0.00 192 39 16.88 - - - SLC44A2 0 genome.wustl.edu 37 19 10742750 10742750 + Silent SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 10742750 10742750 C T SNP SLC44A2 ENST00000335757 human ensembl 69_37n +1 known silent c.741 p.L247 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 66 0 0.00 178 526 74.61 - - - SMOC2 0 genome.wustl.edu 37 6 168910709 168910709 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 168910709 168910709 C A SNP SMOC2 ENST00000354536 human ensembl 69_37n +1 known missense c.199 p.Q67K 1.000 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 67 0 0.00 139 157 53.04 - - - SOGA1 0 genome.wustl.edu 37 20 35444226 35444226 + Missense_Mutation SNP A A C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 20 35444226 35444226 A C SNP SOGA1 ENST00000357779 human ensembl 69_37n -1 known missense c.905 p.L302R 1.000 pfam_DUF3166 pfam_DUF3166 - no_errors SOGA1 HGNC ENSG00000149639 51 0 0.00 41 21 33.87 - - - SPATA1 0 genome.wustl.edu 37 1 85018772 85018772 + RNA DEL A A - TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 85018772 85018772 A - DEL SPATA1 ENST00000460286 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC ENSG00000122432 17 0 0.00 11 3 21.43 - - - STAB2 0 genome.wustl.edu 37 12 104097010 104097010 + Missense_Mutation SNP A A T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 12 104097010 104097010 A T SNP STAB2 ENST00000388887 human ensembl 69_37n +1 known missense c.3799 p.I1267F 1.000 superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 61 0 0.00 161 75 31.78 - - - SYNE1 0 genome.wustl.edu 37 6 152826437 152826437 + Missense_Mutation SNP T T G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 152826437 152826437 T G SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.677 p.D226A 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 172 0 0.00 293 87 22.77 - - - TBRG1 0 genome.wustl.edu 37 11 124494848 124494848 + Nonsense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 11 124494848 124494848 G T SNP TBRG1 ENST00000441174 human ensembl 69_37n +1 known nonsense c.172 p.E58* 1.000 NULL pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 70 0 0.00 106 59 35.76 - - - TEX13A 0 genome.wustl.edu 37 X 104464663 104464663 + Missense_Mutation SNP T T G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a X 104464663 104464663 T G SNP TEX13A ENST00000413579 human ensembl 69_37n -1 known missense c.419 p.Q140P 0.001 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 38 0 0.00 24 14 36.84 - - - TFAP4 0 genome.wustl.edu 37 16 4312598 4312598 + Missense_Mutation SNP T T C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 4312598 4312598 T C SNP TFAP4 ENST00000204517 human ensembl 69_37n -1 known missense c.194 p.N65S 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFAP4 HGNC ENSG00000090447 35 0 0.00 80 33 29.20 - - - TGFB1 0 genome.wustl.edu 37 19 41850696 41850696 + Frame_Shift_Del DEL G G - TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 41850696 41850696 G - DEL TGFB1 ENST00000221930 human ensembl 69_37n -1 known frame_shift_del c.590 p.S197fs 1.000 pfam_TGF-b_N,pirsf_TGF-beta,prints_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta - no_errors TGFB1 HGNC ENSG00000105329 15 0 0.00 32 36 49.32 - - - TIMM44 0 genome.wustl.edu 37 19 7998974 7998974 + Missense_Mutation SNP C C A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 7998974 7998974 C A SNP TIMM44 ENST00000270538 human ensembl 69_37n -1 known missense c.543 p.Q181H 1.000 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 23 0 0.00 40 83 66.94 - - - TLE4 0 genome.wustl.edu 37 9 82323054 82323054 + Missense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 9 82323054 82323054 G T SNP TLE4 ENST00000376520 human ensembl 69_37n +1 known missense c.1054 p.V352F 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 224 0 0.00 124 58 31.87 - - - TMEM57 0 genome.wustl.edu 37 1 25810708 25810708 + Missense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 1 25810708 25810708 G T SNP TMEM57 ENST00000374343 human ensembl 69_37n +1 known missense c.1256 p.R419L 1.000 pfam_Macoilin,superfamily_Prefoldin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 46 0 0.00 39 12 23.53 - - - TRMT12 0 genome.wustl.edu 37 8 125464331 125464331 + Missense_Mutation SNP C C G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 8 125464331 125464331 C G SNP TRMT12 ENST00000328599 human ensembl 69_37n +1 known missense c.1163 p.T388S 0.009 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC ENSG00000183665 49 0 0.00 38 13 25.49 - - - TTN 0 genome.wustl.edu 37 2 179606022 179606022 + Missense_Mutation SNP T T C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 2 179606022 179606022 T C SNP TTN ENST00000342175 human ensembl 69_37n -1 known missense c.11425 p.T3809A 0.915 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 71 0 0.00 38 22 36.67 - - - UPF3B 0 genome.wustl.edu 37 X 118971940 118971940 + Missense_Mutation SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a X 118971940 118971940 C T SNP UPF3B ENST00000276201 human ensembl 69_37n -1 known missense c.1082 p.R361Q 0.355 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 239 0 0.00 316 84 20.95 - - - VCAN 0 genome.wustl.edu 37 5 82815833 82815833 + Missense_Mutation SNP A A T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 5 82815833 82815833 A T SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.1708 p.T570S 0.020 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 114 0 0.00 59 51 46.36 - - - VCX3B 0 genome.wustl.edu 37 X 8433833 8433833 + Silent SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a X 8433833 8433833 C T SNP VCX3B ENST00000444481 human ensembl 69_37n +1 known silent c.150 p.R50 0.000 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 14 0 0.00 165 61 26.87 - - - VPS52 0 genome.wustl.edu 37 6 33231848 33231848 + Silent SNP A A G TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 6 33231848 33231848 A G SNP VPS52 ENST00000445902 human ensembl 69_37n -1 known silent c.1557 p.A519 0.995 pfam_Vps52 pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC ENSG00000223501 98 0 0.00 102 100 49.50 - - - VWA3A 0 genome.wustl.edu 37 16 22134947 22134947 + Missense_Mutation SNP G G C TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 22134947 22134947 G C SNP VWA3A ENST00000389398 human ensembl 69_37n +1 known missense c.1451 p.R484T 0.031 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 171 0 0.00 56 47 45.63 - - - ZIM3 0 genome.wustl.edu 37 19 57647274 57647274 + Missense_Mutation SNP T T A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 57647274 57647274 T A SNP ZIM3 ENST00000269834 human ensembl 69_37n -1 known missense c.431 p.N144I 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM3 HGNC ENSG00000141946 197 0 0.00 183 78 29.89 - - - ZNF597 0 genome.wustl.edu 37 16 3487525 3487525 + Silent SNP C C T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 16 3487525 3487525 C T SNP ZNF597 ENST00000301744 human ensembl 69_37n -1 known silent c.174 p.K58 0.001 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 60 0 0.00 71 41 36.61 - - - ZNF613 0 genome.wustl.edu 37 19 52448266 52448266 + Missense_Mutation SNP G G T TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f848b66f-bd9e-4fba-afd4-eb58848d1ef4 1dab1c73-daeb-4900-9fa1-61656237024a 19 52448266 52448266 G T SNP ZNF613 ENST00000293471 human ensembl 69_37n +1 known missense c.1130 p.C377F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 91 0 0.00 173 72 29.39 - - -