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 AMY2B 0 genome.wustl.edu 37 1 104113465 104113465 + RNA SNP C C A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 1 104113465 104113465 C A SNP AMY2B ENST00000491397 human ensembl 69_37n +1 known rna NULL NULL 0.982 - - - no_errors AMY2B HGNC ENSG00000240038 13 0 0.00 6 4 40.00 - - - ANO3 0 genome.wustl.edu 37 11 26621259 26621259 + Missense_Mutation SNP C C T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 11 26621259 26621259 C T SNP ANO3 ENST00000256737 human ensembl 69_37n +1 known missense c.1834 p.L612F 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 55 0 0.00 33 17 34.00 - - - ARFGAP1 0 genome.wustl.edu 37 20 61907998 61907998 + Missense_Mutation SNP G G T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 20 61907998 61907998 G T SNP ARFGAP1 ENST00000353546 human ensembl 69_37n +1 known missense c.337 p.D113Y 1.000 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 37 0 0.00 31 4 11.43 - - - CD101 0 genome.wustl.edu 37 1 117576699 117576699 + Silent SNP C C T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 1 117576699 117576699 C T SNP CD101 ENST00000256652 human ensembl 69_37n +1 known silent c.3042 p.D1014 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD101 HGNC ENSG00000134256 27 0 0.00 15 9 37.50 - - - CDCP2 0 genome.wustl.edu 37 1 54598912 54598912 + RNA SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 1 54598912 54598912 G A SNP CDCP2 ENST00000530059 human ensembl 69_37n -1 putative rna NULL NULL 0.004 - - - no_errors CDCP2 HGNC ENSG00000157211 29 0 0.00 39 14 26.42 - - - CDH1 0 genome.wustl.edu 37 16 68772218 68772218 + Nonsense_Mutation SNP C C T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 16 68772218 68772218 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.67 p.Q23* 0.982 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 73 0 0.00 26 41 61.19 - - - COL7A1 0 genome.wustl.edu 37 3 48625810 48625810 + Missense_Mutation SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 3 48625810 48625810 G A SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known missense c.2615 p.T872M 0.856 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 18 0 0.00 16 8 33.33 - - - CROCC 0 genome.wustl.edu 37 1 17273313 17273313 + Missense_Mutation SNP A A G TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 1 17273313 17273313 A G SNP CROCC ENST00000375541 human ensembl 69_37n +1 known missense c.2341 p.T781A 0.013 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 58 0 0.00 63 16 20.00 - - - CTNNA2 0 genome.wustl.edu 37 2 80101233 80101233 + Missense_Mutation SNP T T A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 2 80101233 80101233 T A SNP CTNNA2 ENST00000361291 human ensembl 69_37n +1 known missense c.719 p.M240K 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 22 0 0.00 5 8 61.54 - - - EFCAB12 0 genome.wustl.edu 37 3 129130137 129130137 + Missense_Mutation SNP T T A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 3 129130137 129130137 T A SNP EFCAB12 ENST00000326085 human ensembl 69_37n -1 known missense c.899 p.D300V 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB12 HGNC ENSG00000172771 62 0 0.00 45 20 30.77 - - - FAM73A 0 genome.wustl.edu 37 1 78309071 78309071 + Silent SNP T T C TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 1 78309071 78309071 T C SNP FAM73A ENST00000370791 human ensembl 69_37n +1 known silent c.975 p.D325 0.996 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 79 0 0.00 38 23 37.70 - - - GPNMB 0 genome.wustl.edu 37 7 23306203 23306203 + Silent SNP T T C TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 7 23306203 23306203 T C SNP GPNMB ENST00000381990 human ensembl 69_37n +1 known silent c.1122 p.Y374 0.894 smart_PKD/Chitinase_dom pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 51 0 0.00 31 18 36.73 - - - HBS1L 0 genome.wustl.edu 37 6 135299856 135299856 + Silent SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 6 135299856 135299856 G A SNP HBS1L ENST00000367837 human ensembl 69_37n -1 known silent c.1758 p.L586 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_DUF1916,pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors HBS1L HGNC ENSG00000112339 38 0 0.00 29 4 12.12 - - - KIF20B 0 genome.wustl.edu 37 10 91498016 91498016 + Nonsense_Mutation SNP C C T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 10 91498016 91498016 C T SNP KIF20B ENST00000416354 human ensembl 69_37n +1 known nonsense c.3508 p.Q1170* 0.208 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 36 0 0.00 14 14 50.00 - - - KIF2B 0 genome.wustl.edu 37 17 51900667 51900667 + Silent SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 17 51900667 51900667 G A SNP KIF2B ENST00000268919 human ensembl 69_37n +1 known silent c.273 p.P91 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 19 0 0.00 17 7 29.17 - - - KLHL9 0 genome.wustl.edu 37 9 21333116 21333116 + Silent SNP T T A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 9 21333116 21333116 T A SNP KLHL9 ENST00000359039 human ensembl 69_37n -1 known silent c.1743 p.P581 0.986 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL9 HGNC ENSG00000198642 58 0 0.00 51 27 34.62 - - - LYPD4 0 genome.wustl.edu 37 19 42342168 42342168 + Missense_Mutation SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 19 42342168 42342168 G A SNP LYPD4 ENST00000330743 human ensembl 69_37n -1 known missense c.379 p.L127F 0.872 NULL pfam_LY6_UPAR - no_errors LYPD4 HGNC ENSG00000183103 59 0 0.00 40 21 34.43 - - - MCAM 0 genome.wustl.edu 37 11 119183643 119183643 + Silent SNP C C T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 11 119183643 119183643 C T SNP MCAM ENST00000264036 human ensembl 69_37n -1 known silent c.576 p.S192 0.000 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MCAM HGNC ENSG00000076706 39 0 0.00 32 20 38.46 - - - MFI2 0 genome.wustl.edu 37 3 196730792 196730792 + Missense_Mutation SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 3 196730792 196730792 G A SNP MFI2 ENST00000296350 human ensembl 69_37n -1 known missense c.2117 p.S706F 0.981 smart_Peptidase_S60,pirsf_Transferrin pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors MFI2 HGNC ENSG00000163975 47 0 0.00 40 18 31.03 - - - MIR3179-1 0 genome.wustl.edu 37 16 14995686 14995686 + RNA SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 16 14995686 14995686 G A SNP MIR3179-1 ENST00000546674 human ensembl 69_37n +1 known rna NULL NULL 0.037 - - - no_errors MIR3179-1 HGNC ENSG00000257264 14 0 0.00 9 5 35.71 - - - MLL3 0 genome.wustl.edu 37 7 151880169 151880169 + Nonsense_Mutation SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 7 151880169 151880169 G A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.5155 p.Q1719* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 108 0 0.00 61 44 41.90 - - - MST1 0 genome.wustl.edu 37 3 49721622 49721622 + Missense_Mutation SNP C C T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 3 49721622 49721622 C T SNP MST1 ENST00000449682 human ensembl 69_37n -1 known missense c.2017 p.G673S 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 107 1 0.93 72 11 13.25 - - - OBSL1 0 genome.wustl.edu 37 2 220431781 220431781 + Silent SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 2 220431781 220431781 G A SNP OBSL1 ENST00000404537 human ensembl 69_37n -1 known silent c.1905 p.F635 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 45 0 0.00 41 25 37.88 - - - OR7A5 0 genome.wustl.edu 37 19 14938212 14938212 + Missense_Mutation SNP A A T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 19 14938212 14938212 A T SNP OR7A5 ENST00000322301 human ensembl 69_37n -1 known missense c.842 p.V281D 0.006 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7A5 HGNC ENSG00000188269 57 0 0.00 32 32 50.00 - - - PCGF6 0 genome.wustl.edu 37 10 105110755 105110756 + Frame_Shift_Del DEL CA CA - TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 10 105110755 105110756 CA - DEL PCGF6 ENST00000369847 human ensembl 69_37n -1 known frame_shift_del c.69_68 p.L23fs 0.953:0.836 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF6 HGNC ENSG00000156374 13 0 0.00 7 4 36.36 - - - PDE9A 0 genome.wustl.edu 37 21 44174151 44174151 + Missense_Mutation SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 21 44174151 44174151 G A SNP PDE9A ENST00000291539 human ensembl 69_37n +1 known missense c.787 p.V263I 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 33 0 0.00 29 12 29.27 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 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 16 0 0.00 18 13 41.94 - - - PIP5KL1 0 genome.wustl.edu 37 9 130689444 130689444 + Missense_Mutation SNP C C T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 9 130689444 130689444 C T SNP PIP5KL1 ENST00000300432 human ensembl 69_37n -1 known missense c.29 p.R10H 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5KL1 HGNC ENSG00000167103 47 0 0.00 33 4 10.81 - - - POU4F1 0 genome.wustl.edu 37 13 79177419 79177419 + Missense_Mutation SNP G G T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 13 79177419 79177419 G T SNP POU4F1 ENST00000377208 human ensembl 69_37n -1 known missense c.43 p.P15T 1.000 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 - no_errors POU4F1 HGNC ENSG00000152192 35 0 0.00 22 4 15.38 - - - PSG6 0 genome.wustl.edu 37 19 43407829 43407829 + Missense_Mutation SNP A A C TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 19 43407829 43407829 A C SNP PSG6 ENST00000292125 human ensembl 69_37n -1 known missense c.1285 p.F429V 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 75 0 0.00 37 17 31.48 - - - ROBO4 0 genome.wustl.edu 37 11 124756666 124756666 + Missense_Mutation SNP A A G TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 11 124756666 124756666 A G SNP ROBO4 ENST00000306534 human ensembl 69_37n -1 known missense c.2488 p.Y830H 0.945 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO4 HGNC ENSG00000154133 58 0 0.00 25 17 40.48 - - - RUNDC3B 0 genome.wustl.edu 37 7 87323239 87323239 + Missense_Mutation SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 7 87323239 87323239 G A SNP RUNDC3B ENST00000338056 human ensembl 69_37n +1 known missense c.254 p.C85Y 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 53 0 0.00 47 26 35.62 - - - SETMAR 0 genome.wustl.edu 37 3 4345766 4345766 + RNA SNP C C T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 3 4345766 4345766 C T SNP SETMAR ENST00000462115 human ensembl 69_37n +1 putative rna NULL NULL 0.001 - - - no_errors SETMAR HGNC ENSG00000170364 37 0 0.00 19 3 13.64 - - - SLC45A1 0 genome.wustl.edu 37 1 8390620 8390620 + Frame_Shift_Del DEL G G - TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 1 8390620 8390620 G - DEL SLC45A1 ENST00000377479 human ensembl 69_37n +1 known frame_shift_del c.1169 p.S390fs 0.999 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 64 0 0.00 60 18 21.95 - - - TGFBR2 0 genome.wustl.edu 37 3 30713273 30713273 + Missense_Mutation SNP A A G TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 3 30713273 30713273 A G SNP TGFBR2 ENST00000359013 human ensembl 69_37n +1 known missense c.673 p.T225A 0.044 pirsf_Transform_growth_fac-b_typ-2 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 35 0 0.00 21 13 38.24 - - - TGS1 0 genome.wustl.edu 37 8 56711725 56711725 + Missense_Mutation SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 8 56711725 56711725 G A SNP TGS1 ENST00000260129 human ensembl 69_37n +1 known missense c.1795 p.E599K 0.000 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 31 0 0.00 11 3 21.43 - - - TRAK1 0 genome.wustl.edu 37 3 42234667 42234667 + Silent SNP A A G TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 3 42234667 42234667 A G SNP TRAK1 ENST00000396175 human ensembl 69_37n +1 known silent c.696 p.Q232 0.931 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 59 0 0.00 40 21 34.43 - - - TUT1 0 genome.wustl.edu 37 11 62343415 62343415 + Silent SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 11 62343415 62343415 G A SNP TUT1 ENST00000308436 human ensembl 69_37n -1 known silent c.1890 p.L630 0.995 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 21 0 0.00 20 19 48.72 - - - UBTF 0 genome.wustl.edu 37 17 42287812 42287812 + Silent SNP G G A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 17 42287812 42287812 G A SNP UBTF ENST00000302904 human ensembl 69_37n -1 known silent c.1389 p.L463 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors UBTF HGNC ENSG00000108312 33 0 0.00 16 8 33.33 - - - VDAC1 0 genome.wustl.edu 37 5 133316707 133316708 + RNA INS - - T TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 5 133316707 133316708 - T INS VDAC1 ENST00000492324 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.001 - - - no_errors VDAC1 HGNC ENSG00000213585 8 0 0.00 11 4 26.67 - - - ZFPM1 0 genome.wustl.edu 37 16 88594480 88594480 + Frame_Shift_Del DEL G G - TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 16 88594480 88594480 G - DEL ZFPM1 ENST00000319555 human ensembl 69_37n +1 known frame_shift_del c.546 p.G184fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 37 0 0.00 11 16 59.26 - - - ZNF260 0 genome.wustl.edu 37 19 37005895 37005895 + Silent SNP T T A TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 19 37005895 37005895 T A SNP ZNF260 ENST00000523638 human ensembl 69_37n -1 known silent c.246 p.A82 0.037 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 45 0 0.00 22 14 38.89 - - - ZNF285 0 genome.wustl.edu 37 19 44891062 44891063 + Frame_Shift_Del DEL CT CT - TCGA-LL-A50Y-01A-11D-A25Q-09 TCGA-LL-A50Y-10A-01D-A25Q-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 86f75e23-4693-49c0-961e-cff4c8ce91bb 173efdd7-0fb1-4752-a09b-698cb8f423e4 19 44891062 44891063 CT - DEL ZNF285 ENST00000330997 human ensembl 69_37n -1 known frame_shift_del c.1345_1344 p.R448fs 0.997:0.985 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 ZNF285 HGNC ENSG00000267508 82 0 0.00 43 36 45.00 - - -