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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SCN8A 6334 broad.mit.edu 37 12 52145212 52145212 + Silent SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr12:52145212C>T ENST00000354534.5 + 14 2383 c.2205C>T c.(2203-2205)tgC>tgT p.C735C SCN8A_ENST00000550891.1_Silent_p.C735C|SCN8A_ENST00000545061.1_Silent_p.C735C NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 735 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCTGGGAGTGCCACCCCTACT 0.443000 4 119 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123342198 123342198 + Splice_Site SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr9:123342198C>T ENST00000349780.4 - 1 238 c.59_splice c.e1+1 p.S20_splice CDK5RAP2_ENST00000360190.4_Splice_Site_p.S20_splice|CDK5RAP2_ENST00000359309.3_Splice_Site_p.S20_splice|CDK5RAP2_ENST00000360822.3_Splice_Site_p.S20_splice NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 20 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CCGGCCGCACCTGCAGCCGCT 0.642000 7 9 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151786011 151786011 + Missense_Mutation SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr1:151786011C>T ENST00000356728.6 - 6 1110 c.956G>A c.(955-957)gGc>gAc p.G319D RORC_ENST00000318247.6_Missense_Mutation_p.G340D|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.G394D NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 340 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTCCATAAAGCCTGAGAGCCT 0.602000 13 31 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39247055 39247055 + Missense_Mutation SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr7:39247055C>T ENST00000518318.2 + 4 389 c.347C>T c.(346-348)gCc>gTc p.A116V POU6F2_ENST00000403058.1_Missense_Mutation_p.A116V|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.A108V P78424 PO6F2_HUMAN POU class 6 homeobox 2 116 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GGCCCCCCAGCCCTCAACCAG 0.577000 31 79 0 0 1 0 0 PRR4 11272 broad.mit.edu 37 12 10999642 10999642 + Splice_Site SNP A A G rs77818542 TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr12:10999642A>G ENST00000228811.4 - 3 461 c.e3+1 PRR4_ENST00000540107.1_Splice_Site|PRR4_ENST00000536668.1_Splice_Site|PRR4_ENST00000544994.1_Splice_Site NM_007244.2 NP_009175.2 Q16378 PROL4_HUMAN proline rich 4 (lacrimal) visual perception extracellular space endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 9 CTGGAATCATACCTGCCACTG 0.423000 3 67 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29554565 29554565 + Missense_Mutation SNP T T A TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr17:29554565T>A ENST00000358273.4 + 20 2733 c.2350T>A c.(2350-2352)Tgg>Agg p.W784R NF1_ENST00000356175.3_Missense_Mutation_p.W784R NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 784 W -> C (in NF1).|W -> R (in NF1). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.H781_Q786del(1)|p.T780_Q786>K(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACATGCAAAATGGGAACAAGC 0.383000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 16 22 0 0 1 0 0 KLF10 7071 broad.mit.edu 37 8 103662557 103662557 + Missense_Mutation SNP G G C TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr8:103662557G>C ENST00000395884.3 - 4 2115 c.1213C>G c.(1213-1215)Ctg>Gtg p.L405V KLF10_ENST00000285407.6_Missense_Mutation_p.L416V NM_001032282.2 NP_001027453.1 Q13118 KLF10_HUMAN Kruppel-like factor 10 416 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) TGTCTGGACAGTTCATCAGAA 0.478000 4 53 0 0 1 0 0 BIRC5 332 broad.mit.edu 37 17 76212110 76212110 + Silent SNP C C A TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr17:76212110C>A ENST00000301633.4 + 3 416 c.285C>A c.(283-285)atC>atA p.I95I BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron|AC087645.1_ENST00000600484.1_Intron NM_001012271.1 NP_001012271.1 O15392 BIRC5_HUMAN baculoviral IAP repeat containing 5 74 anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding kidney(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) gcgggcggatcacgaggtcag 0.562000 3 25 0.115264 0.115264 1 1 0 APBB2 323 broad.mit.edu 37 4 41015773 41015773 + Missense_Mutation SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr4:41015773C>T ENST00000295974.8 - 6 1291 c.662G>A c.(661-663)gGc>gAc p.G221D APBB2_ENST00000506352.1_Missense_Mutation_p.G221D|APBB2_ENST00000513140.1_Missense_Mutation_p.G221D|APBB2_ENST00000508593.1_Missense_Mutation_p.G221D NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 221 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 GGCTACTTGGCCGTCTTCAGG 0.567000 5 368 0 0 1 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140856203 140856203 + Missense_Mutation SNP C C G TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr5:140856203C>G ENST00000308177.3 + 1 624 c.520C>G c.(520-522)Ctg>Gtg p.L174V PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACCTATGAGCTGAGCCGAAA 0.602000 12 25 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216264046 216264046 + Silent SNP G G A TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr2:216264046G>A ENST00000354785.4 - 21 3651 c.3282C>T c.(3280-3282)taC>taT p.Y1094Y FN1_ENST00000346544.3_Silent_p.Y1094Y|FN1_ENST00000356005.4_Silent_p.Y1094Y|FN1_ENST00000345488.5_Silent_p.Y1094Y|FN1_ENST00000443816.1_Silent_p.Y1094Y|FN1_ENST00000432072.2_Silent_p.Y1094Y|FN1_ENST00000421182.1_Silent_p.Y1094Y|FN1_ENST00000357867.4_Silent_p.Y1094Y|FN1_ENST00000357009.2_Silent_p.Y1094Y|FN1_ENST00000336916.4_Silent_p.Y1094Y|FN1_ENST00000323926.6_Silent_p.Y1094Y|FN1_ENST00000359671.1_Silent_p.Y1094Y|FN1_ENST00000446046.1_Silent_p.Y1094Y P02751 FINC_HUMAN fibronectin 1 1094 Fibronectin type-III 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTCGGTGTTGTAAGGTGGAA 0.428000 25 47 0 0 1 0 0 ACADM 34 broad.mit.edu 37 1 76200505 76200505 + Missense_Mutation SNP T T A TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr1:76200505T>A ENST00000370841.4 + 6 854 c.417T>A c.(415-417)gaT>gaA p.D139E ACADM_ENST00000543667.1_Intron|ACADM_ENST00000370834.5_Missense_Mutation_p.D172E|ACADM_ENST00000541113.1_Missense_Mutation_p.D103E|ACADM_ENST00000420607.2_Missense_Mutation_p.D143E NM_000016.4|NM_001127328.1 NP_000007.1|NP_001120800.1 P11310 ACADM_HUMAN acyl-CoA dehydrogenase, C-4 to C-12 straight chain 139 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18 CTGGAAATGATCAACAAAAGA 0.333000 3 16 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24628063 24628063 + Missense_Mutation SNP G G T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr22:24628063G>T ENST00000327365.4 - 5 1126 c.710C>A c.(709-711)aCg>aAg p.T237K GGT5_ENST00000263112.7_Missense_Mutation_p.T205K|GGT5_ENST00000418439.2_Missense_Mutation_p.T160K|GGT5_ENST00000398292.3_Missense_Mutation_p.T237K NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 237 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CAGCCTCCCCGTGTAGAAGAC 0.632000 4 6 0.00909568 0.00950912 1 1 0 TRIM48 79097 broad.mit.edu 37 11 55032490 55032490 + Silent SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr11:55032490C>T ENST00000417545.2 + 2 245 c.159C>T c.(157-159)ccC>ccT p.P53P NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 37 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TTTGCAGGCCCTGTTTCTACC 0.463000 4 141 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64818384 64818384 + Silent SNP A A G TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr12:64818384A>G ENST00000332707.5 + 12 1717 c.1188A>G c.(1186-1188)gaA>gaG p.E396E NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 396 intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) CATAGGGTGAAGATGAAGCCA 0.418000 30 53 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72829565 72829565 + Missense_Mutation SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr16:72829565C>T ENST00000268489.5 - 9 7688 c.7016G>A c.(7015-7017)cGc>cAc p.R2339H ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1425H NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2339 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ATCAAAGATGCGCTGAAACAC 0.473000 4 134 0 0 1 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880756 105880756 + Missense_Mutation SNP G G C TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr11:105880756G>C ENST00000301919.4 - 3 1959 c.544C>G c.(544-546)Cac>Gac p.H182D NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 182 nucleus TCATCAATGTGGGGGAAATCG 0.393000 15 60 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43167852 43167852 + Silent SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr6:43167852C>T ENST00000252050.4 + 14 3426 c.3342C>T c.(3340-3342)ctC>ctT p.L1114L CUL9_ENST00000354495.3_Silent_p.L1004L|CUL9_ENST00000372647.2_Silent_p.L1114L NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1114 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 ACGCACAGCTCTATAGCAACC 0.567000 10 27 0 0 1 0 0 LOC440700 440700 broad.mit.edu 37 1 165677513 165677513 + RNA DEL G G - TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr1:165677513delG ENST00000400982.2 + 0 407 NR_036683.1 GCCCCTTCCTGGGATACCATG 0.557 2 4 --- --- --- --- CYP2W1 54905 broad.mit.edu 37 7 1024197 1024197 + Frame_Shift_Del DEL C C - TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr7:1024197delC ENST00000340150.6 + 2 178 c.156delC c.(154-156)atfs p.I52fs CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.I108fs Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 108 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) TCCAGCTCATCCAGCGAGGTG 0.721 2 4 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 4 4 --- --- --- ---