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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ANAPC15 25906 genome.wustl.edu 37 11 71818495 71818495 + Nonsense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 11 71818495 71818495 G A SNP ANAPC15 ENST00000543050 human ensembl 70_37 -1 putative nonsense c.475 p.Q159* 0.001 NULL NULL - no_errors ANAPC15 HGNC CDH23-AS1 414246 genome.wustl.edu 37 10 73269694 73269694 + RNA SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 10 73269694 73269694 G A SNP CDH23-AS1 ENST00000428918 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CDH23-AS1 HGNC CNOT2 4848 genome.wustl.edu 37 12 70729334 70729334 + Missense_Mutation SNP G G T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 12 70729334 70729334 G T SNP CNOT2 ENST00000229195 human ensembl 70_37 +1 known missense c.766 p.A256S 1.000 NULL pfam_NOT - no_errors CNOT2 HGNC DCAF12L1 139170 genome.wustl.edu 37 X 125686155 125686155 + Missense_Mutation SNP T T C TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 X 125686155 125686155 T C SNP DCAF12L1 ENST00000371126 human ensembl 70_37 -1 known missense c.437 p.D146G 0.001 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC DIP2B 57609 genome.wustl.edu 37 12 51138529 51138529 + Silent SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 12 51138529 51138529 G A SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known silent c.4638 p.P1546 0.734 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000205233 0 genome.wustl.edu 37 7 102313428 102313428 + Silent SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 7 102313428 102313428 G A SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known silent c.381 p.P127 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000227781 0 genome.wustl.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 10 48968566 48968566 A G SNP ENSG00000227781 ENST00000438010 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors GLUDP2 Clone_based_vega_gene EPHA3 2042 genome.wustl.edu 37 3 89391151 89391151 + Missense_Mutation SNP C C G TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 3 89391151 89391151 C G SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known missense c.1217 p.T406S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC FAT3 120114 genome.wustl.edu 37 11 92532414 92532414 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 11 92532414 92532414 G A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.6235 p.D2079N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FREM3 166752 genome.wustl.edu 37 4 144617512 144617512 + Silent SNP A A T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 4 144617512 144617512 A T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative silent c.4317 p.G1439 0.023 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC GABRB3 2562 genome.wustl.edu 37 15 26806135 26806135 + Missense_Mutation SNP G G T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 15 26806135 26806135 G T SNP GABRB3 ENST00000299267 human ensembl 70_37 -1 known missense c.1024 p.L342I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC HIVEP1 3096 genome.wustl.edu 37 6 12164277 12164277 + Silent SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 6 12164277 12164277 G A SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known silent c.7740 p.E2580 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC KDR 3791 genome.wustl.edu 37 4 55973990 55973990 + Silent SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 4 55973990 55973990 C T SNP KDR ENST00000263923 human ensembl 70_37 -1 known silent c.1326 p.T442 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,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_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC MAP3K9 4293 genome.wustl.edu 37 14 71197432 71197432 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 14 71197432 71197432 G A SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.3022 p.R1008W 0.953 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,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 MAP3K9 HGNC MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC MGC21881 0 genome.wustl.edu 37 9 66553736 66553736 + RNA SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 9 66553736 66553736 C T SNP MGC21881 ENST00000305709 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-262H14.4 Clone_based_vega_gene MIR4485 100616263 genome.wustl.edu 37 MT 3179 3179 + RNA SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 MT 3179 3179 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MYO15A 51168 genome.wustl.edu 37 17 18067132 18067132 + Missense_Mutation SNP T T C TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 17 18067132 18067132 T C SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.9767 p.I3256T 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC NBPF1 55672 genome.wustl.edu 37 1 16889985 16889985 + RNA SNP T T C TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 1 16889985 16889985 T C SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.040 - - - no_errors NBPF1 HGNC NDST3 9348 genome.wustl.edu 37 4 119163280 119163280 + Missense_Mutation SNP A A G TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 4 119163280 119163280 A G SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.2375 p.H792R 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC NOTCH3 4854 genome.wustl.edu 37 19 15299079 15299079 + Nonsense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 19 15299079 15299079 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known nonsense c.1459 p.R487* 0.967 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC PTPRE 5791 genome.wustl.edu 37 10 129883836 129883836 + RNA SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 10 129883836 129883836 C T SNP PTPRE ENST00000479896 human ensembl 70_37 +1 known rna NULL NULL 0.929 - - - no_errors PTPRE HGNC RBFOX1 54715 genome.wustl.edu 37 16 7629836 7629836 + Missense_Mutation SNP A A G TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 16 7629836 7629836 A G SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known missense c.457 p.T153A 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC RBM27 54439 genome.wustl.edu 37 5 145665548 145665548 + Silent SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 5 145665548 145665548 C T SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known silent c.3138 p.D1046 0.855 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC SEMA5B 54437 genome.wustl.edu 37 3 122641210 122641210 + Missense_Mutation SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 3 122641210 122641210 C T SNP SEMA5B ENST00000451055 human ensembl 70_37 -1 known missense c.1519 p.E507K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC SKOR1 390598 genome.wustl.edu 37 15 68125560 68125560 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 15 68125560 68125560 G A SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known missense c.2768 p.R923Q 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC SPATA31E1 286234 genome.wustl.edu 37 9 90502270 90502270 + Missense_Mutation SNP G G C TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 9 90502270 90502270 G C SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known missense c.2868 p.R956S 0.001 NULL NULL - no_errors SPATA31E1 HGNC TNS1 7145 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 2 218712887 218712889 GCT - DEL TNS1 ENST00000171887 human ensembl 70_37 -1 known in_frame_del c.1978_1976 p.Q659in_frame_del 1.000:1.000:0.994 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC USP43 124739 genome.wustl.edu 37 17 9615324 9615324 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 17 9615324 9615324 G A SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.2210 p.R737Q 0.998 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC VPS52 6293 genome.wustl.edu 37 6 33239435 33239435 + Silent SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 6 33239435 33239435 G A SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known silent c.18 p.T6 0.995 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC