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 ADAMTS1 0 genome.wustl.edu 37 21 28210587 28210587 + Missense_Mutation SNP G G T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 21 28210587 28210587 G T SNP ADAMTS1 ENST00000284984 human ensembl 69_37n -1 known missense c.2215 p.H739N 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 72 0 0.00 54 10 15.62 - - - ARHGAP33 0 genome.wustl.edu 37 19 36268582 36268582 + Frame_Shift_Del DEL G G - TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 19 36268582 36268582 G - DEL ARHGAP33 ENST00000007510 human ensembl 69_37n +1 known frame_shift_del c.42 p.G15fs 0.966 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 9 0 0.00 5 3 37.50 - - - ASXL2 0 genome.wustl.edu 37 2 25976464 25976464 + Nonsense_Mutation SNP C C A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 2 25976464 25976464 C A SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known nonsense c.1081 p.E361* 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 622 0 0.00 264 66 20.00 - - - ASXL2 0 genome.wustl.edu 37 2 25976465 25976465 + Silent SNP A A T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 2 25976465 25976465 A T SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known silent c.1080 p.I360 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 619 0 0.00 264 64 19.51 - - - ATP10D 0 genome.wustl.edu 37 4 47525064 47525064 + Missense_Mutation SNP A A T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 4 47525064 47525064 A T SNP ATP10D ENST00000273859 human ensembl 69_37n +1 known missense c.521 p.D174V 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC ENSG00000145246 174 0 0.00 94 19 16.81 - - - B4GALT4 0 genome.wustl.edu 37 3 118942945 118942945 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 3 118942945 118942945 G A SNP B4GALT4 ENST00000359213 human ensembl 69_37n -1 known missense c.634 p.P212S 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT4 HGNC ENSG00000121578 159 0 0.00 80 29 26.61 - - - C11orf16 0 genome.wustl.edu 37 11 8947244 8947244 + Nonsense_Mutation SNP C C A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 11 8947244 8947244 C A SNP C11orf16 ENST00000326053 human ensembl 69_37n -1 known nonsense c.970 p.E324* 0.000 NULL NULL - no_errors C11orf16 HGNC ENSG00000176029 64 0 0.00 67 8 10.67 - - - C1orf114 0 genome.wustl.edu 37 1 169391389 169391389 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 1 169391389 169391389 G A SNP C1orf114 ENST00000367806 human ensembl 69_37n -1 known missense c.280 p.P94S 0.918 NULL NULL - no_errors C1orf114 HGNC ENSG00000117477 309 0 0.00 246 30 10.79 - - - C5orf20 0 genome.wustl.edu 37 5 134782595 134782595 + Nonsense_Mutation SNP G G T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 5 134782595 134782595 G T SNP C5orf20 ENST00000503143 human ensembl 69_37n -1 known nonsense c.204 p.Y68* 0.002 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 92 0 0.00 52 6 10.34 - - - CDH1 0 genome.wustl.edu 37 16 68845625 68845625 + Frame_Shift_Del DEL G G - TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 16 68845625 68845625 G - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.871 p.D291fs 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 171 0 0.00 78 32 28.32 - - - CIT 0 genome.wustl.edu 37 12 120189920 120189920 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 12 120189920 120189920 G A SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.2713 p.R905C 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 45 0 0.00 27 15 35.71 - - - DCAF8L1 0 genome.wustl.edu 37 X 27997690 27997690 + Missense_Mutation SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 X 27997690 27997690 C T SNP DCAF8L1 ENST00000441525 human ensembl 69_37n -1 known missense c.1762 p.E588K 0.782 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 280 0 0.00 164 38 18.72 - - - DMD 0 genome.wustl.edu 37 X 31462683 31462683 + Missense_Mutation SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 X 31462683 31462683 C T SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.8999 p.R3000H 0.987 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 187 1 0.53 160 31 16.23 - - - DMD 0 genome.wustl.edu 37 X 32481659 32481659 + Missense_Mutation SNP T T G TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 X 32481659 32481659 T G SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.3329 p.E1110A 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 95 0 0.00 49 12 19.67 - - - DOCK4 0 genome.wustl.edu 37 7 111409677 111409677 + Frame_Shift_Del DEL G G - TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 7 111409677 111409677 G - DEL DOCK4 ENST00000428084 human ensembl 69_37n -1 known frame_shift_del c.3736 p.L1246fs 1.000 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 83 0 0.00 72 21 22.11 - - - EP400 0 genome.wustl.edu 37 12 132522231 132522231 + Missense_Mutation SNP G G C TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 12 132522231 132522231 G C SNP EP400 ENST00000333577 human ensembl 69_37n +1 known missense c.6064 p.V2022L 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 48 0 0.00 109 85 43.81 - - - FGFR2 0 genome.wustl.edu 37 10 123256149 123256149 + Missense_Mutation SNP G G C TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 10 123256149 123256149 G C SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known missense c.1763 p.S588C 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 341 0 0.00 292 105 26.45 - - - GCH1 0 genome.wustl.edu 37 14 55310747 55310747 + Silent SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 14 55310747 55310747 G A SNP GCH1 ENST00000395514 human ensembl 69_37n -1 known silent c.741 p.L247 1.000 tigrfam_GTP_CycHdrlase_I pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I - no_errors GCH1 HGNC ENSG00000131979 603 1 0.16 304 74 19.58 - - - GIMAP5 0 genome.wustl.edu 37 7 150440110 150440111 + Frame_Shift_Ins INS - - T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 7 150440110 150440111 - T INS GIMAP5 ENST00000358647 human ensembl 69_37n +1 known frame_shift_ins c.883_884 p.I298fs 0.000:0.002 NULL pfam_AIG1 - no_errors GIMAP5 HGNC ENSG00000196329 245 0 0.00 236 71 23.13 - - - GNE 0 genome.wustl.edu 37 9 36217532 36217532 + Missense_Mutation SNP G G T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 9 36217532 36217532 G T SNP GNE ENST00000396594 human ensembl 69_37n -1 known missense c.2092 p.L698I 1.000 NULL pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 150 0 0.00 132 31 19.02 - - - GPD1L 0 genome.wustl.edu 37 3 32180207 32180207 + Missense_Mutation SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 3 32180207 32180207 C T SNP GPD1L ENST00000428684 human ensembl 69_37n +1 known missense c.176 p.S59L 0.999 NULL NULL - no_errors GPD1L HGNC ENSG00000152642 202 0 0.00 147 57 27.94 - - - GPR112 0 genome.wustl.edu 37 X 135455156 135455156 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 X 135455156 135455156 G A SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.7709 p.R2570Q 0.013 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 1076 3 0.28 501 216 30.13 - - - GPR155 0 genome.wustl.edu 37 2 175324714 175324714 + Missense_Mutation SNP C C A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 2 175324714 175324714 C A SNP GPR155 ENST00000295500 human ensembl 69_37n -1 known missense c.1663 p.D555Y 0.990 NULL pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 177 0 0.00 131 24 15.48 - - - HERC1 0 genome.wustl.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 15 63918305 63918306 - G INS HERC1 ENST00000443617 human ensembl 69_37n -1 known frame_shift_ins c.13154_13153 p.Q4385fs 1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 47 0 0.00 18 4 18.18 - - - KIF18A 0 genome.wustl.edu 37 11 28119324 28119324 + Missense_Mutation SNP C C A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 11 28119324 28119324 C A SNP KIF18A ENST00000263181 human ensembl 69_37n -1 known missense c.171 p.K57N 0.998 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 191 0 0.00 165 38 18.72 - - - MACROD2 0 genome.wustl.edu 37 20 15866446 15866446 + Silent SNP A A G TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 20 15866446 15866446 A G SNP MACROD2 ENST00000310348 human ensembl 69_37n +1 known silent c.765 p.K255 0.999 NULL pfam_A1pp,smart_A1pp,pfscan_A1pp - no_errors MACROD2 HGNC ENSG00000172264 534 0 0.00 297 98 24.75 - - - MAGEA11 0 genome.wustl.edu 37 X 148798418 148798419 + Frame_Shift_Del DEL GG GG - TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 X 148798418 148798419 GG - DEL MAGEA11 ENST00000355220 human ensembl 69_37n +1 known frame_shift_del c.1272_1273 p.E425fs 0.001:0.004 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 162 0 0.00 77 143 65.00 - - - MAP4K4 0 genome.wustl.edu 37 2 102504327 102504327 + Missense_Mutation SNP G G T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 2 102504327 102504327 G T SNP MAP4K4 ENST00000324219 human ensembl 69_37n +1 known missense c.3667 p.V1223F 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC ENSG00000071054 380 0 0.00 242 61 20.13 - - - MBNL1 0 genome.wustl.edu 37 3 152150507 152150507 + Nonsense_Mutation SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 3 152150507 152150507 C T SNP MBNL1 ENST00000464596 human ensembl 69_37n +1 novel nonsense c.343 p.Q115* 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - pseudogene:no_stop_codon:bad_bp_length_for_coding_region MBNL1 HGNC ENSG00000152601 566 0 0.00 265 91 25.56 - - - MCTP1 0 genome.wustl.edu 37 5 94620064 94620064 + Frame_Shift_Del DEL A A - TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 5 94620064 94620064 A - DEL MCTP1 ENST00000515393 human ensembl 69_37n -1 known frame_shift_del c.216 p.S72fs 0.000 NULL pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 12 0 0.00 2 2 40.00 - - - MIR548AN 0 genome.wustl.edu 37 X 105883114 105883115 + RNA INS - - C TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 X 105883114 105883115 - C INS MIR548AN ENST00000408286 human ensembl 69_37n +1 known rna NULL NULL 0.050:0.054 - - - no_errors MIR548AN HGNC ENSG00000263515 23 0 0.00 13 6 31.58 - - - MYLK2 0 genome.wustl.edu 37 20 30419874 30419874 + Missense_Mutation SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 20 30419874 30419874 C T SNP MYLK2 ENST00000375985 human ensembl 69_37n +1 known missense c.1645 p.R549C 1.000 superfamily_Kinase-like_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 MYLK2 HGNC ENSG00000101306 19 0 0.00 22 6 21.43 - - - NOP2 0 genome.wustl.edu 37 12 6672822 6672822 + Missense_Mutation SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 12 6672822 6672822 C T SNP NOP2 ENST00000322166 human ensembl 69_37n -1 known missense c.646 p.E216K 0.919 NULL pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 86 0 0.00 72 11 13.10 - - - OR10H1 0 genome.wustl.edu 37 19 15918448 15918448 + Missense_Mutation SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 19 15918448 15918448 C T SNP OR10H1 ENST00000334920 human ensembl 69_37n -1 known missense c.400 p.V134M 0.128 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,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 OR10H1 HGNC ENSG00000186723 87 0 0.00 82 25 23.36 - - - OR4K1 0 genome.wustl.edu 37 14 20404131 20404131 + Silent SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 14 20404131 20404131 C T SNP OR4K1 ENST00000285600 human ensembl 69_37n +1 known silent c.306 p.F102 0.037 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 716 0 0.00 460 60 11.49 - - - PLCE1 0 genome.wustl.edu 37 10 96018635 96018635 + Silent SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 10 96018635 96018635 C T SNP PLCE1 ENST00000371380 human ensembl 69_37n +1 known silent c.3633 p.S1211 0.993 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 283 0 0.00 172 58 25.22 - - - PNN 0 genome.wustl.edu 37 14 39648666 39648666 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 14 39648666 39648666 G A SNP PNN ENST00000216832 human ensembl 69_37n +1 known missense c.793 p.A265T 1.000 NULL pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 58 0 0.00 91 22 19.47 - - - PPM1L 0 genome.wustl.edu 37 3 160783285 160783285 + Silent SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 3 160783285 160783285 C T SNP PPM1L ENST00000498165 human ensembl 69_37n +1 known silent c.669 p.N223 0.796 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1L HGNC ENSG00000163590 314 1 0.32 209 63 23.16 - - - PPP2R5B 0 genome.wustl.edu 37 11 64695334 64695334 + Missense_Mutation SNP G G C TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 11 64695334 64695334 G C SNP PPP2R5B ENST00000164133 human ensembl 69_37n +1 known missense c.457 p.E153Q 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 52 0 0.00 42 16 27.59 - - - PRMT5 0 genome.wustl.edu 37 14 23395473 23395473 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 14 23395473 23395473 G A SNP PRMT5 ENST00000324366 human ensembl 69_37n -1 known missense c.646 p.H216Y 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 297 2 0.67 256 65 20.19 - - - PRR21 0 genome.wustl.edu 37 2 240982243 240982243 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 2 240982243 240982243 G A SNP PRR21 ENST00000408934 human ensembl 69_37n -1 known missense c.157 p.R53W 0.000 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 27 0 0.00 68 10 12.82 - - - RAB30 0 genome.wustl.edu 37 11 82693237 82693237 + Silent SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 11 82693237 82693237 G A SNP RAB30 ENST00000260056 human ensembl 69_37n -1 known silent c.582 p.I194 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB30 HGNC ENSG00000137502 154 0 0.00 104 45 30.20 - - - RGS9 0 genome.wustl.edu 37 17 63185416 63185416 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 17 63185416 63185416 G A SNP RGS9 ENST00000262406 human ensembl 69_37n +1 known missense c.667 p.V223I 0.002 superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS9 HGNC ENSG00000108370 76 0 0.00 46 11 19.30 - - - SCFD1 0 genome.wustl.edu 37 14 31144222 31144222 + Missense_Mutation SNP T T G TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 14 31144222 31144222 T G SNP SCFD1 ENST00000458591 human ensembl 69_37n +1 known missense c.1193 p.L398R 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 212 0 0.00 124 31 19.87 - - - SCNM1 0 genome.wustl.edu 37 1 151138644 151138644 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 1 151138644 151138644 G A SNP SCNM1 ENST00000368905 human ensembl 69_37n +1 known missense c.16 p.E6K 1.000 NULL NULL - no_errors SCNM1 HGNC ENSG00000163156 13 0 0.00 10 13 56.52 - - - SEL1L3 0 genome.wustl.edu 37 4 25831746 25831746 + Missense_Mutation SNP C C G TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 4 25831746 25831746 C G SNP SEL1L3 ENST00000399878 human ensembl 69_37n -1 known missense c.1131 p.L377F 0.999 superfamily_ConA-like_lec_gl pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 80 0 0.00 48 18 26.87 - - - STAT4 0 genome.wustl.edu 37 2 191919242 191919242 + Missense_Mutation SNP A A G TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 2 191919242 191919242 A G SNP STAT4 ENST00000358470 human ensembl 69_37n -1 known missense c.1225 p.S409P 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 446 1 0.22 241 80 24.92 - - - STAU1 0 genome.wustl.edu 37 20 47734890 47734890 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 20 47734890 47734890 G A SNP STAU1 ENST00000371856 human ensembl 69_37n -1 known missense c.1169 p.S390F 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU1 HGNC ENSG00000124214 66 0 0.00 51 8 13.56 - - - SVEP1 0 genome.wustl.edu 37 9 113312283 113312283 + Silent SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 9 113312283 113312283 C T SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known silent c.633 p.L211 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 281 0 0.00 187 48 20.43 - - - TMEM104 0 genome.wustl.edu 37 17 72786401 72786401 + Silent SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 17 72786401 72786401 C T SNP TMEM104 ENST00000335464 human ensembl 69_37n +1 known silent c.312 p.Y104 0.992 NULL pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 122 0 0.00 110 32 22.22 - - - TP53 0 genome.wustl.edu 37 17 7577543 7577543 + Missense_Mutation SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 17 7577543 7577543 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.738 p.M246I 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 62 0 0.00 51 19 27.14 - - - TSTD2 0 genome.wustl.edu 37 9 100368473 100368473 + Silent SNP T T C TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 9 100368473 100368473 T C SNP TSTD2 ENST00000341170 human ensembl 69_37n -1 known silent c.906 p.Q302 0.630 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 169 0 0.00 147 28 16.00 - - - WDR38 0 genome.wustl.edu 37 9 127619109 127619109 + Frame_Shift_Del DEL A A - TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 9 127619109 127619109 A - DEL WDR38 ENST00000373574 human ensembl 69_37n +1 known frame_shift_del c.717 p.I239fs 0.982 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR38 HGNC ENSG00000136918 35 0 0.00 18 9 33.33 - - - ZBTB5 0 genome.wustl.edu 37 9 37441772 37441772 + Missense_Mutation SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 9 37441772 37441772 C T SNP ZBTB5 ENST00000307750 human ensembl 69_37n -1 known missense c.777 p.M259I 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 118 0 0.00 118 35 22.88 - - - ZFP64 0 genome.wustl.edu 37 20 50769075 50769076 + Frame_Shift_Ins INS - - G TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 20 50769075 50769076 - G INS ZFP64 ENST00000216923 human ensembl 69_37n -1 known frame_shift_ins c.1656_1655 p.Q553fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 33 0 0.00 13 4 23.53 - - - ZFPM2 0 genome.wustl.edu 37 8 106646553 106646553 + Missense_Mutation SNP A A T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 8 106646553 106646553 A T SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.500 p.D167V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 96 0 0.00 46 14 22.95 - - - ZNF266 0 genome.wustl.edu 37 19 9524313 9524313 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 19 9524313 9524313 G A SNP ZNF266 ENST00000361151 human ensembl 69_37n -1 known missense c.1288 p.H430Y 0.996 smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 235 0 0.00 155 20 11.43 - - - ZNF532 0 genome.wustl.edu 37 18 56586482 56586482 + Silent SNP C C T TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 18 56586482 56586482 C T SNP ZNF532 ENST00000336078 human ensembl 69_37n +1 known silent c.963 p.I321 0.888 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 905 1 0.11 341 140 29.11 - - - ZNF729 0 genome.wustl.edu 37 19 22497609 22497609 + Missense_Mutation SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48e532ea-2af5-427a-a784-781e208cced6 a0a00bdd-dfc0-4707-9491-d509f218d623 19 22497609 22497609 G A SNP ZNF729 ENST00000357491 human ensembl 69_37n +1 known missense c.1390 p.E464K 0.011 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_stop_codon ZNF729 HGNC ENSG00000196350 327 0 0.00 283 124 30.47 - - -