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 AHNAK2 0 genome.wustl.edu 37 14 105420425 105420425 + Missense_Mutation SNP G G T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 14 105420425 105420425 G T SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.1363 p.L455M 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 58 0 0.00 31 20 39.22 - - - CDH1 0 genome.wustl.edu 37 16 68847369 68847370 + Frame_Shift_Del DEL AA AA - TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 16 68847369 68847370 AA - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.1291_1292 p.N431fs 0.665:0.779 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_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 75 0 0.00 26 18 40.00 - - - DCDC5 0 genome.wustl.edu 37 11 30946866 30946866 + Missense_Mutation SNP C C G TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 11 30946866 30946866 C G SNP DCDC5 ENST00000339794 human ensembl 69_37n -1 known missense c.224 p.R75T 0.914 superfamily_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC ENSG00000170959 31 0 0.00 21 13 38.24 - - - EPB41L5 0 genome.wustl.edu 37 2 120836080 120836080 + Silent SNP G G T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 2 120836080 120836080 G T SNP EPB41L5 ENST00000263713 human ensembl 69_37n +1 known silent c.726 p.G242 0.603 pfam_FERM_PH-like_C,pfscan_FERM_domain,prints_Ez/rad/moesin pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L5 HGNC ENSG00000115109 29 0 0.00 29 4 12.12 - - - F11R 0 genome.wustl.edu 37 1 160970906 160970908 + In_Frame_Del DEL ACA ACA - TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 1 160970906 160970908 ACA - DEL F11R ENST00000436182 human ensembl 69_37n -1 known in_frame_del c.157_155 p.L52in_frame_del 0.006:0.074:0.072 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors F11R HGNC ENSG00000158769 42 0 0.00 57 7 10.94 - - - GPAM 0 genome.wustl.edu 37 10 113923490 113923490 + Silent SNP C C T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 10 113923490 113923490 C T SNP GPAM ENST00000348367 human ensembl 69_37n -1 known silent c.1392 p.L464 0.996 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors GPAM HGNC ENSG00000119927 79 0 0.00 50 35 41.18 - - - GRN 0 genome.wustl.edu 37 17 42429855 42429855 + Missense_Mutation SNP G G T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 17 42429855 42429855 G T SNP GRN ENST00000053867 human ensembl 69_37n +1 known missense c.1560 p.E520D 0.000 NULL pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 61 0 0.00 31 4 11.43 - - - HIST1H4J 0 genome.wustl.edu 37 6 27791945 27791945 + Missense_Mutation SNP G G A TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 6 27791945 27791945 G A SNP HIST1H4J ENST00000355057 human ensembl 69_37n +1 known missense c.43 p.G15S 1.000 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4J HGNC ENSG00000197238 34 0 0.00 20 8 28.57 - - - HRNR 0 genome.wustl.edu 37 1 152186614 152186614 + Silent SNP C C G TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 1 152186614 152186614 C G SNP HRNR ENST00000368801 human ensembl 69_37n -1 known silent c.7491 p.S2497 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 9 0 0.00 4 5 55.56 - - - HTR3D 0 genome.wustl.edu 37 3 183753877 183753877 + Silent SNP C C T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 3 183753877 183753877 C T SNP HTR3D ENST00000382489 human ensembl 69_37n +1 known silent c.369 p.F123 0.838 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 31 0 0.00 21 4 16.00 - - - KBTBD5 0 genome.wustl.edu 37 3 42730496 42730496 + Silent SNP C C T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 3 42730496 42730496 C T SNP KBTBD5 ENST00000287777 human ensembl 69_37n +1 known silent c.1557 p.T519 0.730 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD5 HGNC ENSG00000157119 30 0 0.00 25 11 30.56 - - - LRRC14B 0 genome.wustl.edu 37 5 191707 191707 + Missense_Mutation SNP C C A TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 5 191707 191707 C A SNP LRRC14B ENST00000328278 human ensembl 69_37n +1 novel missense c.54 p.H18Q 0.122 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 58 0 0.00 43 19 30.65 - - - MALAT1 0 genome.wustl.edu 37 11 65272285 65272285 + RNA SNP A A T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 11 65272285 65272285 A T SNP MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.454 - - - no_errors MALAT1 HGNC ENSG00000251562 132 0 0.00 50 30 37.50 - - - MAP3K1 0 genome.wustl.edu 37 5 56161268 56161269 + Frame_Shift_Del DEL TT TT - TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 5 56161268 56161269 TT - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.1137_1138 p.L380fs 0.761:0.988 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 62 0 0.00 48 21 30.43 - - - MED12 0 genome.wustl.edu 37 X 70345260 70345260 + Silent SNP G G A TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c X 70345260 70345260 G A SNP MED12 ENST00000333646 human ensembl 69_37n +1 known silent c.2286 p.K762 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 68 0 0.00 42 37 46.84 - - - OR2T4 0 genome.wustl.edu 37 1 248524975 248524975 + Silent SNP T T C TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 1 248524975 248524975 T C SNP OR2T4 ENST00000366475 human ensembl 69_37n +1 known silent c.93 p.N31 0.074 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 65 0 0.00 65 14 17.72 - - - PCDHGA8 0 genome.wustl.edu 37 5 140773952 140773952 + Missense_Mutation SNP G G T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 5 140773952 140773952 G T SNP PCDHGA8 ENST00000398604 human ensembl 69_37n +1 known missense c.1572 p.Q524H 0.964 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 39 0 0.00 31 20 39.22 - - - PHLDB1 0 genome.wustl.edu 37 11 118499208 118499208 + Missense_Mutation SNP T T C TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 11 118499208 118499208 T C SNP PHLDB1 ENST00000361417 human ensembl 69_37n +1 known missense c.1669 p.C557R 0.996 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 52 0 0.00 44 6 12.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 21 0 0.00 11 7 38.89 - - - RASSF7 0 genome.wustl.edu 37 11 563307 563307 + Missense_Mutation SNP C C G TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 11 563307 563307 C G SNP RASSF7 ENST00000344375 human ensembl 69_37n +1 known missense c.941 p.P314R 0.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 38 0 0.00 20 7 25.93 - - - RNF31 0 genome.wustl.edu 37 14 24620062 24620062 + Missense_Mutation SNP C C T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 14 24620062 24620062 C T SNP RNF31 ENST00000324103 human ensembl 69_37n +1 known missense c.1453 p.R485W 1.000 NULL pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 63 0 0.00 40 27 40.30 - - - SAFB2 0 genome.wustl.edu 37 19 5621340 5621340 + Missense_Mutation SNP G G A TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 19 5621340 5621340 G A SNP SAFB2 ENST00000252542 human ensembl 69_37n -1 known missense c.254 p.S85L 0.041 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 48 0 0.00 35 14 28.57 - - - SCYL2 0 genome.wustl.edu 37 12 100711639 100711639 + Missense_Mutation SNP A A G TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 12 100711639 100711639 A G SNP SCYL2 ENST00000360820 human ensembl 69_37n +1 known missense c.1331 p.E444G 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL2 HGNC ENSG00000136021 40 0 0.00 26 19 42.22 - - - SHISA9 0 genome.wustl.edu 37 16 13329127 13329127 + Missense_Mutation SNP G G A TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 16 13329127 13329127 G A SNP SHISA9 ENST00000558583 human ensembl 69_37n +1 known missense c.1259 p.R420Q 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 72 0 0.00 42 40 48.78 - - - SLC43A3 0 genome.wustl.edu 37 11 57182167 57182167 + Missense_Mutation SNP G G A TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 11 57182167 57182167 G A SNP SLC43A3 ENST00000525205 human ensembl 69_37n -1 known missense c.293 p.S98L 0.998 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SLC43A3 HGNC ENSG00000134802 47 0 0.00 33 13 28.26 - - - ST5 0 genome.wustl.edu 37 11 8752457 8752457 + Missense_Mutation SNP C C T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 11 8752457 8752457 C T SNP ST5 ENST00000313726 human ensembl 69_37n -1 known missense c.380 p.G127E 0.339 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 44 0 0.00 32 7 17.95 - - - TERT 0 genome.wustl.edu 37 5 1266600 1266600 + Missense_Mutation SNP G G T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 5 1266600 1266600 G T SNP TERT ENST00000310581 human ensembl 69_37n -1 known missense c.2633 p.T878N 0.000 pfam_RVT,pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,prints_Telomerase_RT,pfscan_RVT - no_errors TERT HGNC ENSG00000164362 48 0 0.00 29 6 17.14 - - - TH1L 0 genome.wustl.edu 37 20 57561249 57561249 + Frame_Shift_Del DEL C C - TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 20 57561249 57561249 C - DEL TH1L ENST00000344018 human ensembl 69_37n +1 known frame_shift_del c.189 p.F63fs 0.996 pfam_TH1 pfam_TH1 - no_errors TH1L HGNC ENSG00000101158 72 0 0.00 45 6 11.54 - - - TIMMDC1 0 genome.wustl.edu 37 3 119217721 119217721 + Missense_Mutation SNP G G T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 3 119217721 119217721 G T SNP TIMMDC1 ENST00000494664 human ensembl 69_37n +1 known missense c.141 p.E47D 0.000 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 35 0 0.00 35 4 10.00 - - - TSHZ1 0 genome.wustl.edu 37 18 72999964 72999964 + Missense_Mutation SNP G G A TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 18 72999964 72999964 G A SNP TSHZ1 ENST00000580243 human ensembl 69_37n +1 known missense c.2602 p.D868N 0.998 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 28 0 0.00 14 5 26.32 - - - TXNDC11 0 genome.wustl.edu 37 16 11792024 11792024 + Missense_Mutation SNP A A C TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 16 11792024 11792024 A C SNP TXNDC11 ENST00000356957 human ensembl 69_37n -1 known missense c.1145 p.I382R 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 36 0 0.00 43 5 10.42 - - - WASH6P 0 genome.wustl.edu 37 X 155251726 155251726 + Silent SNP G G C TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c X 155251726 155251726 G C SNP WASH6P ENST00000359512 human ensembl 69_37n +1 known silent c.363 p.T121 0.993 NULL pfam_WASH_WASD - no_errors WASH6P HGNC ENSG00000182484 9 0 0.00 4 4 50.00 - - - YTHDF1 0 genome.wustl.edu 37 20 61834861 61834861 + Missense_Mutation SNP C C T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 20 61834861 61834861 C T SNP YTHDF1 ENST00000370339 human ensembl 69_37n -1 known missense c.431 p.S144N 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 51 0 0.00 53 12 18.18 - - - ZNF439 0 genome.wustl.edu 37 19 11959677 11959677 + RNA SNP T T C TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 67a233d6-6e32-4224-a9af-c5579672d155 0ca11874-f9f6-4631-9a0a-1814a35f238c 19 11959677 11959677 T C SNP ZNF439 ENST00000592534 human ensembl 69_37n +1 putative rna NULL NULL 0.011 - - - no_errors ZNF439 HGNC ENSG00000171291 25 0 0.00 7 5 41.67 - - -