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_status validation_method validation_tumor_sample validation_alt_allele filter SDF4 51150 broad.mit.edu 37 1 1153991 1153991 + Silent SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:1153991G>A uc001adh.3 - 6 1088 c.759C>T c.(757-759)CTC>CTT p.L253L SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Silent_p.L253L|SDF4_uc009vjv.2_Silent_p.L131L|SDF4_uc009vjw.2_RNA NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 253 4 (Potential).|EF-hand 4. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding upper_aerodigestive_tract(1)|large_intestine(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) CGGGCACAGAGAGCTGCTTGT 0.632 17 65 --- --- --- --- PASS PGD 5226 broad.mit.edu 37 1 10477566 10477566 + Missense_Mutation SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:10477566G>C uc001arc.2 + 10 1199 c.1109G>C c.(1108-1110)AGT>ACT p.S370T PGD_uc001ard.2_Missense_Mutation_p.S290T|PGD_uc010oak.1_Missense_Mutation_p.S348T|PGD_uc010oal.1_Missense_Mutation_p.S357T NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 370 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) ATCATTAGAAGGTAAGTGAGA 0.562 29 102 --- --- --- --- PASS RPS6KA1 6195 broad.mit.edu 37 1 26883509 26883509 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:26883509C>G uc001bmr.1 + 13 1165 c.1002C>G c.(1000-1002)ATC>ATG p.I334M RPS6KA1_uc010ofe.1_Missense_Mutation_p.I242M|RPS6KA1_uc010off.1_Missense_Mutation_p.I318M|RPS6KA1_uc001bms.1_Missense_Mutation_p.I343M|RPS6KA1_uc009vsl.1_Missense_Mutation_p.I177M NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 334 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GTCGTGAGATCAAGCCACCCT 0.587 30 108 --- --- --- --- PASS HDAC1 3065 broad.mit.edu 37 1 32797376 32797376 + Missense_Mutation SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:32797376G>C uc001bvb.1 + 11 1251 c.1188G>C c.(1186-1188)GAG>GAC p.E396D HDAC1_uc010ohf.1_Missense_Mutation_p.E367D|HDAC1_uc001bvc.1_Missense_Mutation_p.E152D NM_004964 NP_004955 Q13547 HDAC1_HUMAN histone deacetylase 1 396 Missing: Strongly decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1) 3 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) GTGGCGATGAGGACGAAGACG 0.567 39 131 --- --- --- --- PASS KTI12 112970 broad.mit.edu 37 1 52498835 52498835 + Missense_Mutation SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:52498835G>A uc001ctj.1 - 1 638 c.599C>T c.(598-600)TCC>TTC p.S200F TXNDC12_uc001cti.2_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated 200 ATP binding central_nervous_system(2) 2 AAAGGCACCGGACCCATGCTT 0.577 42 118 --- --- --- --- PASS CC2D1B 200014 broad.mit.edu 37 1 52828391 52828391 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:52828391C>G uc001ctq.1 - 3 235 c.97G>C c.(97-99)GAG>CAG p.E33Q CC2D1B_uc001cts.2_5'Flank NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 33 ovary(2) 2 AGCATGTCCTCAGGGCCAAAC 0.572 53 165 --- --- --- --- PASS NPR1 4881 broad.mit.edu 37 1 153654196 153654196 + Missense_Mutation SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:153654196C>A uc001fcs.3 + 4 1473 c.1052C>A c.(1051-1053)GCA>GAA p.A351E NPR1_uc010pdz.1_Missense_Mutation_p.A97E NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 351 Extracellular (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) ACCATCCCAGCATCCTTCCAC 0.582 51 79 --- --- --- --- PASS NUF2 83540 broad.mit.edu 37 1 163295920 163295920 + Missense_Mutation SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:163295920G>A uc001gcq.1 + 2 379 c.79G>A c.(79-81)GAT>AAT p.D27N NUF2_uc001gcp.2_Missense_Mutation_p.D27N|NUF2_uc001gcr.1_Missense_Mutation_p.D27N|NUF2_uc009wvc.1_Missense_Mutation_p.D27N NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 27 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) AACAGGAGCTGATGGTAAAAA 0.358 122 163 --- --- --- --- PASS ABL2 27 broad.mit.edu 37 1 179090794 179090794 + Missense_Mutation SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:179090794T>C uc001gmj.3 - 5 1183 c.896A>G c.(895-897)TAT>TGT p.Y299C ABL2_uc010pnf.1_Missense_Mutation_p.Y299C|ABL2_uc010png.1_Missense_Mutation_p.Y278C|ABL2_uc010pnh.1_Missense_Mutation_p.Y278C|ABL2_uc009wxe.2_Missense_Mutation_p.Y278C|ABL2_uc001gmg.3_Missense_Mutation_p.Y284C|ABL2_uc001gmi.3_Missense_Mutation_p.Y284C|ABL2_uc001gmh.3_Missense_Mutation_p.Y263C|ABL2_uc010pne.1_Missense_Mutation_p.Y263C|ABL2_uc009wxf.1_Missense_Mutation_p.Y284C|ABL2_uc001gmk.2_Missense_Mutation_p.Y263C NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 299 ATP (By similarity).|Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) AACCTCTCCATACTGACCGCC 0.453 T ETV6 AML 135 213 --- --- --- --- PASS SOX13 9580 broad.mit.edu 37 1 204092245 204092245 + Silent SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:204092245C>T uc001ham.2 + 11 1735 c.1140C>T c.(1138-1140)CTC>CTT p.L380L SOX13_uc010pqp.1_Silent_p.L379L|SOX13_uc010pqq.1_Silent_p.L247L NM_005686 NP_005677 Q9UN79 SOX13_HUMAN SRY-box 13 380 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CCTAGGACCTCATCAGCCTGG 0.612 56 104 --- --- --- --- PASS C1orf74 148304 broad.mit.edu 37 1 209956220 209956220 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:209956220C>T uc001hhp.1 - 2 1003 c.760G>A c.(760-762)GAT>AAT p.D254N NM_152485 NP_689698 Q96LT6 CA074_HUMAN hypothetical protein LOC148304 254 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0328) ATGCTGAGATCAGCAAAGTCA 0.478 53 231 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248263404 248263404 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr1:248263404C>T uc001ids.2 + 3 1064 c.727C>T c.(727-729)CAT>TAT p.H243Y NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CATTTCAACACATTTAACTGT 0.453 83 144 --- --- --- --- PASS APLF 200558 broad.mit.edu 37 2 68765102 68765102 + Silent SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr2:68765102T>C uc002sep.2 + 7 1076 c.903T>C c.(901-903)CTT>CTC p.L301L APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Silent_p.L277L|APLF_uc002ser.1_Silent_p.L32L NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 301 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 TAGAGGAACTTGGTAAAGTTT 0.363 33 97 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116572478 116572478 + Missense_Mutation SNP A G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr2:116572478A>G uc002tla.1 + 20 2267 c.1810A>G c.(1810-1812)AGT>GGT p.S604G DPP10_uc002tlb.1_Missense_Mutation_p.S554G|DPP10_uc002tlc.1_Missense_Mutation_p.S600G|DPP10_uc002tle.2_Missense_Mutation_p.S608G|DPP10_uc002tlf.1_Missense_Mutation_p.S597G NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 604 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TGGCAGAGGAAGTGGATTCCA 0.423 56 150 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155158078 155158078 + Missense_Mutation SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr2:155158078G>C uc002tyr.3 + 9 1699 c.1132G>C c.(1132-1134)GAT>CAT p.D378H GALNT13_uc002tyt.3_Missense_Mutation_p.D378H|GALNT13_uc010foc.1_Missense_Mutation_p.D197H|GALNT13_uc010fod.2_Missense_Mutation_p.D131H NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 378 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TGAATTTAAAGATTTCTTCTA 0.363 68 220 --- --- --- --- PASS MAP1D 254042 broad.mit.edu 37 2 172944926 172944926 + Silent SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr2:172944926C>T uc002uhk.2 + 9 994 c.921C>T c.(919-921)GAC>GAT p.D307D MAP1D_uc010zdw.1_Silent_p.D189D NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN methionine aminopeptidase 1D precursor 307 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) tctccctagacaatcAAAGGT 0.383 59 179 --- --- --- --- PASS TRIM59 286827 broad.mit.edu 37 3 160155865 160155865 + Silent SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr3:160155865T>C uc003fdm.2 - 3 1302 c.1107A>G c.(1105-1107)CTA>CTG p.L369L IFT80_uc003fda.2_Intron NM_173084 NP_775107 Q8IWR1 TRI59_HUMAN tripartite motif-containing 59 369 integral to membrane|intracellular zinc ion binding 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGTAAACAGATAGAGAGGCTT 0.313 87 88 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56831872 56831872 + Silent SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr4:56831872C>T uc003hbi.2 + 8 1125 c.891C>T c.(889-891)ACC>ACT p.T297T CEP135_uc003hbj.2_Silent_p.T3T|CEP135_uc010igz.1_Silent_p.T127T NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 297 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) TTATGGAAACCAAGGAAACAG 0.353 44 75 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123268789 123268789 + Silent SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr4:123268789C>T uc003ieh.2 + 74 13029 c.12984C>T c.(12982-12984)TCC>TCT p.S4328S KIAA1109_uc003iem.2_Silent_p.S684S NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4328 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGTCAGCCTCCTTCACCCACA 0.498 51 47 --- --- --- --- PASS ANKH 56172 broad.mit.edu 37 5 14758688 14758688 + Nonsense_Mutation SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr5:14758688G>C uc003jfm.3 - 3 664 c.333C>G c.(331-333)TAC>TAG p.Y111* NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 111 Extracellular (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 TGATAATGTAGTATCCTAAAT 0.408 50 144 --- --- --- --- PASS OR2B2 81697 broad.mit.edu 37 6 27879971 27879971 + Silent SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr6:27879971G>A uc011dkw.1 - 1 127 c.127C>T c.(127-129)CTG>TTG p.L43L NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATTATTGTCAGATTGCCAAAG 0.393 52 88 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51907784 51907784 + Silent SNP A C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr6:51907784A>C uc003pah.1 - 27 3246 c.2970T>G c.(2968-2970)GTT>GTG p.V990V PKHD1_uc003pai.2_Silent_p.V990V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 990 IPT/TIG 4.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GATGCATTCCAACAGGTAGCA 0.453 77 141 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64394489 64394489 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr6:64394489C>T uc003pep.1 + 3 892 c.866C>T c.(865-867)TCA>TTA p.S289L PHF3_uc010kaf.1_Missense_Mutation_p.S289L|PHF3_uc003pem.2_Missense_Mutation_p.S242L|PHF3_uc010kag.1_Missense_Mutation_p.S201L|PHF3_uc010kah.1_Missense_Mutation_p.S103L|PHF3_uc003pen.2_Missense_Mutation_p.S201L|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.S289L NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 289 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TTTAAGTTTTCAGATAAAGAA 0.343 30 130 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69349286 69349286 + Missense_Mutation SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr6:69349286G>A uc003pev.3 + 3 1167 c.719G>A c.(718-720)TGC>TAC p.C240Y BAI3_uc010kak.2_Missense_Mutation_p.C240Y NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 240 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ACCCAAGTCTGCAATCTTACC 0.537 20 37 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76633407 76633407 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr6:76633407C>T uc003pik.1 - 16 2390 c.2260G>A c.(2260-2262)GAA>AAA p.E754K NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 754 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GCTTGATTTTCAGAGTGATCT 0.299 20 29 --- --- --- --- PASS TAAR2 9287 broad.mit.edu 37 6 132939033 132939033 + Silent SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr6:132939033C>A uc003qdl.1 - 2 312 c.312G>T c.(310-312)TCG>TCT p.S104S TAAR2_uc010kfr.1_Silent_p.S59S NM_001033080 NP_001028252 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 isoform 1 104 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) AGTTCTCCACCGATCTGATCA 0.423 48 107 --- --- --- --- PASS TTLL2 83887 broad.mit.edu 37 6 167754034 167754034 + Missense_Mutation SNP T A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr6:167754034T>A uc003qvs.1 + 3 734 c.646T>A c.(646-648)TTA>ATA p.L216I TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 216 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GCCTGCTGAGTTATCTCGTGG 0.418 45 160 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20784946 20784946 + Missense_Mutation SNP G T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr7:20784946G>T uc003suw.3 + 17 2525 c.1979G>T c.(1978-1980)TGC>TTC p.C660F ABCB5_uc010kuh.2_Missense_Mutation_p.C1105F NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 660 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CTCTTCAACTGCAGCATTGCT 0.448 48 110 --- --- --- --- PASS TBX20 57057 broad.mit.edu 37 7 35242047 35242047 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr7:35242047C>T uc011kas.1 - 8 1350 c.1339G>A c.(1339-1341)GTA>ATA p.V447I NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 447 nucleus DNA binding central_nervous_system(1) 1 AAGAGTCATACAAATGGCGTC 0.507 9 17 --- --- --- --- PASS TNS3 64759 broad.mit.edu 37 7 47453597 47453597 + Splice_Site SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr7:47453597T>C uc003tnv.2 - 12 954 c.587_splice c.e12-1 p.V196_splice TNS3_uc003tnw.2_Splice_Site_p.V196_splice|TNS3_uc010kyo.1_Splice_Site_p.V196_splice NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 focal adhesion protein binding ovary(4) 4 GCCGGCACACTGAAAGAAAGG 0.463 32 112 --- --- --- --- PASS TFR2 7036 broad.mit.edu 37 7 100230713 100230713 + Nonsense_Mutation SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr7:100230713C>A uc003uvv.1 - 6 801 c.760G>T c.(760-762)GAA>TAA p.E254* TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Nonsense_Mutation_p.E83* NM_003227 NP_003218 Q9UP52 TFR2_HUMAN transferrin receptor 2 254 Extracellular (Potential). cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity ovary(1)|pancreas(1) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCAGGTCTTCGGGCCGCCCG 0.697 25 71 --- --- --- --- PASS EPHB6 2051 broad.mit.edu 37 7 142568388 142568388 + Silent SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr7:142568388C>T uc011kst.1 + 19 3694 c.2907C>T c.(2905-2907)TTC>TTT p.F969F EPHB6_uc011ksu.1_Silent_p.F969F|EPHB6_uc003wbs.2_Silent_p.F677F|EPHB6_uc003wbt.2_Silent_p.F443F|EPHB6_uc003wbu.2_Silent_p.F677F|EPHB6_uc003wbv.2_Silent_p.F353F NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 969 SAM.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) AGGACAACTTCTCCAAGTTTG 0.607 54 196 --- --- --- --- PASS INSIG1 3638 broad.mit.edu 37 7 155094556 155094556 + Missense_Mutation SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr7:155094556G>A uc003wly.2 + 5 1015 c.804G>A c.(802-804)ATG>ATA p.M268I INSIG1_uc011kvu.1_Missense_Mutation_p.M116I|INSIG1_uc003wlz.2_3'UTR NM_005542 NP_005533 O15503 INSI1_HUMAN insulin induced gene 1 isoform 1 268 Cytoplasmic. cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTTAGCTATGGTAAGTGAAA 0.383 54 193 --- --- --- --- PASS GPR124 25960 broad.mit.edu 37 8 37699012 37699012 + Silent SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr8:37699012C>T uc003xkj.2 + 19 3519 c.3156C>T c.(3154-3156)TGC>TGT p.C1052C GPR124_uc010lvy.2_Silent_p.C835C NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 1052 Helical; Name=7; (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGTGCAGCTGCTTGTACGGGG 0.697 39 91 --- --- --- --- PASS INTS8 55656 broad.mit.edu 37 8 95879535 95879535 + Missense_Mutation SNP A G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr8:95879535A>G uc003yhb.2 + 20 2510 c.2384A>G c.(2383-2385)CAC>CGC p.H795R INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.H622R NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 795 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) ACAGCTGAACACATTTCTATT 0.274 59 208 --- --- --- --- PASS MTERFD1 51001 broad.mit.edu 37 8 97263324 97263324 + Splice_Site SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr8:97263324C>G uc003yhs.1 - 4 566 c.488_splice c.e4-1 p.G163_splice MTERFD1_uc003yhr.1_Splice_Site_p.G42_splice|MTERFD1_uc010mbd.1_Splice_Site_p.G163_splice NM_015942 NP_057026 Q96E29 MTER1_HUMAN MTERF domain containing 1 precursor negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding ovary(1) 1 Breast(36;5.16e-05) AAATCCACGCCTATAATAAAT 0.333 28 98 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 134025901 134025901 + Missense_Mutation SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr8:134025901G>C uc003ytw.2 + 37 6495 c.6454G>C c.(6454-6456)GTG>CTG p.V2152L TG_uc010mdw.2_Missense_Mutation_p.V911L|TG_uc011ljb.1_Missense_Mutation_p.V521L|TG_uc011ljc.1_Missense_Mutation_p.V285L NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2152 Type IIIA. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ACCTGGGGCTGTGAGATGTAT 0.517 37 122 --- --- --- --- PASS DNM1 1759 broad.mit.edu 37 9 131004537 131004537 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr9:131004537C>G uc011mau.1 + 15 1671 c.1584C>G c.(1582-1584)ATC>ATG p.I528M DNM1_uc011mat.1_Missense_Mutation_p.I528M|DNM1_uc004bub.1_Translation_Start_Site|DNM1_uc004buc.1_Translation_Start_Site|DNM1_uc004bud.3_RNA NM_004408 NP_004399 Q05193 DYN1_HUMAN dynamin 1 isoform 1 528 PH. receptor-mediated endocytosis microtubule GTP binding|GTPase activity ovary(2) 2 GGCTGACTATCAATAATATTG 0.557 14 23 --- --- --- --- PASS CEL 1056 broad.mit.edu 37 9 135945996 135945996 + Missense_Mutation SNP A G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr9:135945996A>G uc010naa.1 + 10 1460 c.1444A>G c.(1444-1446)ACA>GCA p.T482A NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 479 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CCAAGACAGGACAGTCTCTAA 0.607 38 89 --- --- --- --- PASS GBGT1 26301 broad.mit.edu 37 9 136029232 136029232 + Missense_Mutation SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr9:136029232T>C uc004ccw.2 - 7 1057 c.776A>G c.(775-777)TAT>TGT p.Y259C RALGDS_uc011mcw.1_Intron|GBGT1_uc004ccx.2_Missense_Mutation_p.Y212C|GBGT1_uc010nab.2_3'UTR|GBGT1_uc011mcx.1_Missense_Mutation_p.Y242C|GBGT1_uc010nac.1_Missense_Mutation_p.Y123C|GBGT1_uc004ccy.1_3'UTR NM_021996 NP_068836 Q8N5D6 GBGT1_HUMAN globoside 259 Lumenal (Potential). carbohydrate metabolic process|glycolipid biosynthetic process Golgi membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) CCCACCATAATAGAAGTCCCC 0.592 38 51 --- --- --- --- PASS AKR1CL1 340811 broad.mit.edu 37 10 5227068 5227068 + RNA SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr10:5227068C>T uc009xhz.2 - 1 c.83G>A NR_027916 Homo sapiens cDNA FLJ16347 fis, clone TESTI2036288, moderately similar to PROSTAGLANDIN-F SYNTHASE 1 (EC 1.1.1.188). 0 CCGTCATCATCCCCAGCTAAC 0.507 28 95 --- --- --- --- PASS NEBL 10529 broad.mit.edu 37 10 21177072 21177072 + Missense_Mutation SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr10:21177072G>A uc001iqi.2 - 4 720 c.323C>T c.(322-324)ACA>ATA p.T108I NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 108 Nebulin 3. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 ACTGTCAATTGTGGCTGGCAT 0.353 40 69 --- --- --- --- PASS ARMC4 55130 broad.mit.edu 37 10 28233864 28233864 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr10:28233864C>G uc009xky.2 - 11 1512 c.1414G>C c.(1414-1416)GCG>CCG p.A472P ARMC4_uc010qds.1_5'UTR|ARMC4_uc010qdt.1_Missense_Mutation_p.A164P|ARMC4_uc001itz.2_Missense_Mutation_p.A472P|ARMC4_uc010qdu.1_Missense_Mutation_p.A164P NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 472 binding ovary(4)|skin(2) 6 GAACACAACGCAATCACTGTA 0.438 26 106 --- --- --- --- PASS ARHGAP12 94134 broad.mit.edu 37 10 32098194 32098194 + Missense_Mutation SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr10:32098194C>A uc001ivz.1 - 17 2362 c.2092G>T c.(2092-2094)GCA>TCA p.A698S ARHGAP12_uc001ivy.1_Missense_Mutation_p.A644S|ARHGAP12_uc009xls.2_Missense_Mutation_p.A649S|ARHGAP12_uc001iwb.1_Missense_Mutation_p.A691S|ARHGAP12_uc001iwc.1_Missense_Mutation_p.A666S|ARHGAP12_uc009xlq.1_Missense_Mutation_p.A619S|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'UTR NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 698 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) TGGATCACTGCGAGGTTGCCA 0.358 33 117 --- --- --- --- PASS SCD 6319 broad.mit.edu 37 10 102116493 102116493 + Silent SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr10:102116493G>A uc001kqy.2 + 5 1342 c.852G>A c.(850-852)GAG>GAA p.E284E NM_005063 NP_005054 O00767 ACOD_HUMAN stearoyl-CoA desaturase 1 284 Cytoplasmic (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity 0 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) GCCCCCGGGAGAATATCCTGG 0.502 12 45 --- --- --- --- PASS CPT1A 1374 broad.mit.edu 37 11 68549256 68549256 + Silent SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr11:68549256G>A uc001oog.3 - 11 1505 c.1335C>T c.(1333-1335)CAC>CAT p.H445H CPT1A_uc001oof.3_Silent_p.H445H|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 445 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) AACATCGGCCGTGTAGTAGAG 0.488 91 289 --- --- --- --- PASS ALKBH8 91801 broad.mit.edu 37 11 107403129 107403129 + Missense_Mutation SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr11:107403129C>A uc010rvr.1 - 8 850 c.775G>T c.(775-777)GTC>TTC p.V259F ALKBH8_uc001pjk.2_Missense_Mutation_p.V7F|ALKBH8_uc010rvq.1_Missense_Mutation_p.V122F|ALKBH8_uc009yxp.2_Missense_Mutation_p.V259F|ALKBH8_uc001pjl.2_RNA NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 259 Fe2OG dioxygenase. response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) AAATCCATGACAATCTTGAAG 0.388 20 77 --- --- --- --- PASS M6PR 4074 broad.mit.edu 37 12 9098176 9098176 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:9098176C>G uc001qvf.2 - 3 351 c.181G>C c.(181-183)GAG>CAG p.E61Q NM_002355 NP_002346 P20645 MPRD_HUMAN cation-dependent mannose-6-phosphate receptor 61 Lumenal (Potential). endosome to lysosome transport|receptor-mediated endocytosis cell surface|endosome|integral to plasma membrane|lysosomal membrane mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity 0 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) ACAGTGCTCTCAAAGCTGTAA 0.468 25 79 --- --- --- --- PASS KLRB1 3820 broad.mit.edu 37 12 9750713 9750713 + Nonsense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:9750713C>T uc010sgt.1 - 5 521 c.459G>A c.(457-459)TGG>TGA p.W153* NM_002258 NP_002249 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, 153 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 TTAATCCAATCCAAAACAGAA 0.299 14 55 --- --- --- --- PASS ETV6 2120 broad.mit.edu 37 12 11905406 11905406 + Missense_Mutation SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:11905406C>A uc001qzz.2 + 2 330 c.56C>A c.(55-57)CCT>CAT p.P19H NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 19 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) TCATATACACCTCCAGAGAGC 0.542 T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 51 158 --- --- --- --- PASS DDX11 1663 broad.mit.edu 37 12 31238029 31238029 + Missense_Mutation SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:31238029G>A uc001rjt.1 + 5 858 c.607G>A c.(607-609)GAG>AAG p.E203K DDX11_uc010sjw.1_Missense_Mutation_p.E203K|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.E203K|DDX11_uc001rjs.1_Missense_Mutation_p.E203K|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E203K|DDX11_uc001rjw.1_Missense_Mutation_p.E177K|DDX11_uc001rjx.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 203 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CGCCGAATACGAGAGTGATGA 0.627 Multiple Myeloma(12;0.14) 7 9 --- --- --- --- PASS CACNB3 784 broad.mit.edu 37 12 49221670 49221670 + Missense_Mutation SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:49221670G>C uc001rsl.1 + 13 1644 c.1443G>C c.(1441-1443)AAG>AAC p.K481N CACNB3_uc010sly.1_Missense_Mutation_p.K468N|CACNB3_uc010slz.1_Missense_Mutation_p.K480N|CACNB3_uc001rsk.1_Missense_Mutation_p.K328N NM_000725 NP_000716 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 481 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 Verapamil(DB00661) CTTGGCCCAAGGATAGCTACT 0.647 12 37 --- --- --- --- PASS ATXN2 6311 broad.mit.edu 37 12 111957681 111957681 + Splice_Site SNP A T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:111957681A>T uc001tsj.2 - 8 1628 c.1466_splice c.e8+1 p.R489_splice ATXN2_uc001tsh.2_Splice_Site_p.R224_splice|ATXN2_uc001tsi.2_Splice_Site_p.R200_splice|ATXN2_uc001tsk.2_Splice_Site|ATXN2_uc001tsm.1_Splice_Site_p.R224_splice NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 TCCTTTAAATACCTAGTGTTT 0.388 87 231 --- --- --- --- PASS DHX37 57647 broad.mit.edu 37 12 125461949 125461949 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:125461949C>T uc001ugy.2 - 5 925 c.826G>A c.(826-828)GAG>AAG p.E276K NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 276 ATP (By similarity).|Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CTGCCGGTCTCACCACACACG 0.577 44 126 --- --- --- --- PASS SLC15A4 121260 broad.mit.edu 37 12 129294641 129294641 + Silent SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:129294641G>C uc001uhu.2 - 3 911 c.858C>G c.(856-858)GTC>GTG p.V286V SLC15A4_uc001uhv.2_Intron NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 286 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) ATTGCTGAAAGACTCCAATGC 0.378 47 136 --- --- --- --- PASS SLC15A4 121260 broad.mit.edu 37 12 129299345 129299345 + Nonsense_Mutation SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:129299345G>A uc001uhu.2 - 2 870 c.817C>T c.(817-819)CGA>TGA p.R273* SLC15A4_uc001uhv.2_RNA|MGC16384_uc001uhw.2_5'Flank NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 273 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) TCTCCACTTCGCTTCTGGGAA 0.453 59 111 --- --- --- --- PASS PUS1 80324 broad.mit.edu 37 12 132425925 132425925 + Silent SNP G T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr12:132425925G>T uc001ujf.2 + 5 1112 c.633G>T c.(631-633)GCG>GCT p.A211A PUS1_uc001ujg.2_Silent_p.A183A|PUS1_uc001ujh.2_Silent_p.A183A|PUS1_uc001uji.2_Silent_p.A158A NM_025215 NP_079491 Q9Y606 TRUA_HUMAN pseudouridine synthase 1 isoform 1 211 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) TTGCCTTTGCGCACAAGGACC 0.607 28 67 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19748035 19748035 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr13:19748035C>T uc009zzj.2 - 5 1370 c.1321G>A c.(1321-1323)GAA>AAA p.E441K NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 441 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GCCTCGGCTTCCACGGAATCC 0.587 106 98 --- --- --- --- PASS PLEKHG3 26030 broad.mit.edu 37 14 65197885 65197885 + Nonsense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr14:65197885C>T uc001xho.1 + 7 1116 c.847C>T c.(847-849)CAG>TAG p.Q283* PLEKHG3_uc001xhn.1_Nonsense_Mutation_p.Q227*|PLEKHG3_uc001xhp.2_Nonsense_Mutation_p.Q283*|PLEKHG3_uc010aqh.1_5'UTR NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 283 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGTCCGGCTCCAGGTGCTCTG 0.652 14 34 --- --- --- --- PASS PLEKHG3 26030 broad.mit.edu 37 14 65209878 65209878 + Silent SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr14:65209878C>G uc001xho.1 + 17 3386 c.3117C>G c.(3115-3117)CTC>CTG p.L1039L PLEKHG3_uc001xhn.1_Silent_p.L983L|PLEKHG3_uc001xhp.2_Silent_p.L1160L|PLEKHG3_uc010aqh.1_Silent_p.L581L|PLEKHG3_uc001xhq.1_Silent_p.L544L NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 1039 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGAGCCCCCTCAGCCCCACAG 0.612 44 138 --- --- --- --- PASS IREB2 3658 broad.mit.edu 37 15 78782999 78782999 + Silent SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr15:78782999C>G uc002bdr.2 + 18 2382 c.2220C>G c.(2218-2220)GCC>GCG p.A740A IREB2_uc010unb.1_Silent_p.A490A NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 740 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TTGAAAATGCCCATGTCTTAT 0.378 97 328 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100331367 100331367 + RNA SNP A T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr15:100331367A>T uc010urx.1 - 5 c.2825T>A C15orf51_uc010ury.1_RNA NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 CCACCCCGCAATGGCAGAAGA 0.502 17 40 --- --- --- --- PASS TEKT5 146279 broad.mit.edu 37 16 10770015 10770015 + Missense_Mutation SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr16:10770015G>C uc002czz.1 - 5 959 c.887C>G c.(886-888)GCC>GGC p.A296G NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 296 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 ACTGAACTTGGCCCAGGTCTC 0.433 18 55 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20430718 20430718 + Missense_Mutation SNP G T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr16:20430718G>T uc002dhe.2 + 4 731 c.584G>T c.(583-585)AGC>ATC p.S195I ACSM5_uc002dhd.1_Missense_Mutation_p.S195I NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 195 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GTGTCAGACAGCAGTCGGCCA 0.537 18 62 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20491959 20491959 + Missense_Mutation SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr16:20491959T>C uc010bwe.2 + 12 1585 c.1346T>C c.(1345-1347)ATC>ACC p.I449T ACSM2A_uc010vax.1_Missense_Mutation_p.I370T|ACSM2A_uc002dhf.3_Missense_Mutation_p.I449T|ACSM2A_uc002dhg.3_Missense_Mutation_p.I449T|ACSM2A_uc010vay.1_Missense_Mutation_p.I370T|ACSM2A_uc002dhh.3_Missense_Mutation_p.I79T NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 449 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GACCGGGGAATCAAAGATGAA 0.502 31 96 --- --- --- --- PASS EEF2K 29904 broad.mit.edu 37 16 22291592 22291592 + Nonsense_Mutation SNP G T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr16:22291592G>T uc002dki.2 + 17 2448 c.1963G>T c.(1963-1965)GAG>TAG p.E655* EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 655 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) TGAGGGCGGTGAGTACGACGG 0.607 18 49 --- --- --- --- PASS TNRC6A 27327 broad.mit.edu 37 16 24801959 24801959 + Missense_Mutation SNP A G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr16:24801959A>G uc002dmm.2 + 6 2110 c.1996A>G c.(1996-1998)ACA>GCA p.T666A TNRC6A_uc010bxs.2_Missense_Mutation_p.T413A|TNRC6A_uc010vcc.1_Missense_Mutation_p.T413A|TNRC6A_uc002dmn.2_Missense_Mutation_p.T413A|TNRC6A_uc002dmo.2_Missense_Mutation_p.T413A NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 666 Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GTGGGCCAAAACAGGAGGTAC 0.458 19 55 --- --- --- --- PASS NLRP1 22861 broad.mit.edu 37 17 5424256 5424256 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr17:5424256C>T uc002gci.2 - 14 4415 c.3860G>A c.(3859-3861)GGC>GAC p.G1287D NLRP1_uc002gcg.1_Missense_Mutation_p.G1291D|NLRP1_uc002gck.2_Intron|NLRP1_uc002gcj.2_Missense_Mutation_p.G1257D|NLRP1_uc002gcl.2_Intron|NLRP1_uc002gch.3_Intron NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1287 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GTAACGACAGCCCATATAAAG 0.498 12 15 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578239 7578239 + Nonsense_Mutation SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr17:7578239C>A uc002gim.2 - 6 804 c.610G>T c.(610-612)GAG>TAG p.E204* TP53_uc002gig.1_Nonsense_Mutation_p.E204*|TP53_uc002gih.2_Nonsense_Mutation_p.E204*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E72*|TP53_uc010cng.1_Nonsense_Mutation_p.E72*|TP53_uc002gii.1_Nonsense_Mutation_p.E72*|TP53_uc010cnh.1_Nonsense_Mutation_p.E204*|TP53_uc010cni.1_Nonsense_Mutation_p.E204*|TP53_uc002gij.2_Nonsense_Mutation_p.E204*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E111*|TP53_uc002gio.2_Nonsense_Mutation_p.E72*|TP53_uc010vug.1_Nonsense_Mutation_p.E165* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 204 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E204*(23)|p.0?(7)|p.E204fs*5(3)|p.E204G(2)|p.E204E(2)|p.E204K(2)|p.E204fs*43(2)|p.K164_P219del(1)|p.E204Q(1)|p.E204D(1)|p.E204fs*4(1)|p.E204A(1)|p.V203_E204>V*(1)|p.E204V(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCCAAATACTCCACACGCAAA 0.542 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 43 --- --- --- --- PASS DHRS7C 201140 broad.mit.edu 37 17 9684839 9684839 + Missense_Mutation SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr17:9684839T>C uc010vvb.1 - 2 227 c.227A>G c.(226-228)AAC>AGC p.N76S DHRS7C_uc010cof.2_Missense_Mutation_p.N76S NM_001105571 NP_001099041 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 76 extracellular region binding|oxidoreductase activity 0 ATCATATAGGTTCTCTAGCCT 0.562 13 27 --- --- --- --- PASS KRT23 25984 broad.mit.edu 37 17 39092695 39092695 + Missense_Mutation SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr17:39092695G>A uc002hvm.1 - 2 750 c.161C>T c.(160-162)CCC>CTC p.P54L KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.P54L|KRT23_uc002hvn.1_Missense_Mutation_p.P54L NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 54 Head. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) CCCTCCAGGGGGTGGGCAGCT 0.682 44 74 --- --- --- --- PASS SEC14L1 6397 broad.mit.edu 37 17 75190993 75190993 + Missense_Mutation SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr17:75190993G>A uc002jto.2 + 7 976 c.709G>A c.(709-711)GAC>AAC p.D237N SEC14L1_uc010dhc.2_Missense_Mutation_p.D237N|SEC14L1_uc010wth.1_Missense_Mutation_p.D237N|SEC14L1_uc002jtm.2_Missense_Mutation_p.D237N|SEC14L1_uc010wti.1_Missense_Mutation_p.D203N NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 237 transport Golgi apparatus|integral to membrane binding ovary(2) 2 CACCCCTGACGGTGGGTCTGG 0.632 34 113 --- --- --- --- PASS AFG3L2 10939 broad.mit.edu 37 18 12353077 12353077 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr18:12353077C>G uc002kqz.1 - 10 1358 c.1245G>C c.(1243-1245)AAG>AAC p.K415N NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 415 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) CTCTTCCTCTCTTCCTTCCCA 0.502 40 174 --- --- --- --- PASS B4GALT6 9331 broad.mit.edu 37 18 29246305 29246305 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr18:29246305C>G uc002kwz.3 - 2 443 c.146G>C c.(145-147)CGA>CCA p.R49P B4GALT6_uc010dma.2_Intron|B4GALT6_uc010dmb.2_Missense_Mutation_p.R49P NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN beta-1,4-galactosyltransferase 6 49 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(10;0.00791) CATTATACCTCGAGCTTGTAC 0.313 45 148 --- --- --- --- PASS DIRAS1 148252 broad.mit.edu 37 19 2717450 2717450 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:2717450C>T uc002lwf.3 - 2 513 c.355G>A c.(355-357)GTG>ATG p.V119M NM_145173 NP_660156 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 119 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGTTGCCCACGAGCATCACG 0.637 17 28 --- --- --- --- PASS CELF5 60680 broad.mit.edu 37 19 3293414 3293414 + Silent SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:3293414G>A uc002lxm.2 + 12 1465 c.1428G>A c.(1426-1428)AAG>AAA p.K476K CELF5_uc002lxl.1_3'UTR|CELF5_uc010dtj.1_3'UTR|CELF5_uc010xhg.1_3'UTR|CELF5_uc002lxn.2_RNA NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 476 RRM 3. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 TCCAGCTGAAGCGGCCCAAAG 0.677 13 30 --- --- --- --- PASS FUT5 2527 broad.mit.edu 37 19 5867442 5867442 + Missense_Mutation SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:5867442G>C uc002mdo.3 - 2 383 c.295C>G c.(295-297)CCC>GCC p.P99A FUT5_uc010duo.2_Missense_Mutation_p.P99A NM_002034 NP_002025 Q11128 FUT5_HUMAN fucosyltransferase 5 99 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 GCCGCGCCGGGCACCATCTCT 0.632 17 53 --- --- --- --- PASS KHSRP 8570 broad.mit.edu 37 19 6420434 6420434 + Silent SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:6420434C>A uc002mer.3 - 5 584 c.474G>T c.(472-474)CTG>CTT p.L158L NM_003685 NP_003676 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 158 Gly-rich.|KH 1. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding skin(1) 1 CACACTCACTCAGGCCCACCA 0.597 10 26 --- --- --- --- PASS ZNF562 54811 broad.mit.edu 37 19 9764312 9764312 + Silent SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:9764312G>C uc010xks.1 - 6 757 c.594C>G c.(592-594)CTC>CTG p.L198L ZNF562_uc002mly.2_Silent_p.L198L|ZNF562_uc002mlx.2_Silent_p.L126L|ZNF562_uc010xkt.1_Silent_p.L161L|ZNF562_uc010xku.1_Silent_p.L129L|ZNF562_uc010xkv.1_Silent_p.L197L|ZNF562_uc010xkw.1_Silent_p.L82L NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 198 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCTTCCATTGAGAATTTCAA 0.398 30 116 --- --- --- --- PASS KCNN1 3780 broad.mit.edu 37 19 18085079 18085079 + Missense_Mutation SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:18085079T>C uc002nht.2 + 3 692 c.382T>C c.(382-384)TCC>CCC p.S128P KCNN1_uc010xqa.1_Missense_Mutation_p.S128P NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 128 Helical; Name=Segment S1; (Potential). synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 GACCGAGCTGTCCTGGGGGGT 0.632 16 45 --- --- --- --- PASS TM6SF2 53345 broad.mit.edu 37 19 19375667 19375667 + Missense_Mutation SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:19375667T>C uc002nmd.1 - 10 990 c.940A>G c.(940-942)ATG>GTG p.M314V HAPLN4_uc002nmb.2_5'Flank|HAPLN4_uc002nmc.2_Intron NM_001001524 NP_001001524 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 314 integral to membrane 0 Epithelial(12;0.0151) GAAGCCCCCATGTGCGAGAAC 0.607 17 48 --- --- --- --- PASS APOC2 344 broad.mit.edu 37 19 45452030 45452030 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:45452030C>G uc002pah.2 + 3 231 c.128C>G c.(127-129)TCT>TGT p.S43C NM_000483 NP_000474 P02655 APOC2_HUMAN apolipoprotein C-II precursor 43 Lipid binding. cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity kidney(1) 1 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) GTGAAGGAATCTCTCTCCAGT 0.582 41 119 --- --- --- --- PASS PPP1R15A 23645 broad.mit.edu 37 19 49376765 49376765 + Missense_Mutation SNP A G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:49376765A>G uc002pky.3 + 2 544 c.275A>G c.(274-276)GAC>GGC p.D92G NM_014330 NP_055145 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 92 Required for localization in the endoplasmic reticulum. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding lung(1) 1 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CCTGGAGAGGACAGAGAAACA 0.577 26 93 --- --- --- --- PASS ZNF582 147948 broad.mit.edu 37 19 56896044 56896044 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:56896044C>G uc002qmz.1 - 5 901 c.742G>C c.(742-744)GTT>CTT p.V248L ZNF582_uc002qmy.2_Missense_Mutation_p.V279L NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 248 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) CCAGTATGAACTCTCTGATGT 0.378 22 94 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57326518 57326518 + Missense_Mutation SNP G T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:57326518G>T uc002qnu.2 - 7 3643 c.3292C>A c.(3292-3294)CAG>AAG p.Q1098K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q1069K|PEG3_uc002qnv.2_Missense_Mutation_p.Q1098K|PEG3_uc002qnw.2_Missense_Mutation_p.Q974K|PEG3_uc002qnx.2_Missense_Mutation_p.Q972K|PEG3_uc010etr.2_Missense_Mutation_p.Q1098K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1098 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCATCCTTCTGAGGGTCTTCC 0.517 64 191 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57640619 57640619 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr19:57640619C>G uc002qny.2 + 4 932 c.576C>G c.(574-576)AAC>AAG p.N192K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 192 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTGTACCAAACAAGAAATATA 0.368 57 135 --- --- --- --- PASS PAK7 57144 broad.mit.edu 37 20 9523233 9523233 + Silent SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr20:9523233C>T uc002wnl.2 - 10 2549 c.2004G>A c.(2002-2004)AAG>AAA p.K668K PAK7_uc002wnk.2_Silent_p.K668K|PAK7_uc002wnj.2_Silent_p.K668K|PAK7_uc010gby.1_Intron NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 668 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) TGTTTCTCACCTTGTGTAGGT 0.483 71 237 --- --- --- --- PASS C20orf94 128710 broad.mit.edu 37 20 10603339 10603339 + Missense_Mutation SNP C G G TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr20:10603339C>G uc010zre.1 + 8 719 c.539C>G c.(538-540)ACG>AGG p.T180R NM_001009608 NP_001009608 Q5VYV7 CT094_HUMAN hypothetical protein LOC128710 180 protein binding 0 AGCAGTGTCACGAGCAAATCG 0.433 20 78 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31671218 31671218 + Missense_Mutation SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr20:31671218C>T uc010zue.1 + 3 230 c.215C>T c.(214-216)CCC>CTC p.P72L NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 72 cytoplasm|extracellular region lipid binding 0 CGAGGACCCCCCCCAGTATAT 0.488 59 120 --- --- --- --- PASS STAU1 6780 broad.mit.edu 37 20 47770589 47770589 + Silent SNP T C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chr20:47770589T>C uc002xud.2 - 4 636 c.225A>G c.(223-225)GTA>GTG p.V75V STAU1_uc002xua.2_5'UTR|STAU1_uc002xub.2_5'UTR|STAU1_uc002xuc.2_5'UTR|STAU1_uc002xue.2_5'UTR|STAU1_uc002xuf.2_5'UTR|STAU1_uc002xug.2_Silent_p.V75V NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 75 DRBM 1. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) CATTTAGTTCTACAGTAGGGG 0.368 64 191 --- --- --- --- PASS NYX 60506 broad.mit.edu 37 X 41333813 41333813 + Silent SNP C T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chrX:41333813C>T uc004dfh.2 + 2 1537 c.1107C>T c.(1105-1107)GCC>GCT p.A369A NYX_uc011mku.1_Silent_p.A364A NM_022567 NP_072089 Q9GZU5 NYX_HUMAN nyctalopin precursor 369 LRRCT. response to stimulus|visual perception intracellular|proteinaceous extracellular matrix lung(2) 2 GCTCCGTGGCCGGCCTGGACC 0.706 4 2 --- --- --- --- PASS MAGIX 79917 broad.mit.edu 37 X 49021258 49021258 + Missense_Mutation SNP A T T TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chrX:49021258A>T uc010nin.1 + 4 384 c.337A>T c.(337-339)AGT>TGT p.S113C MAGIX_uc010nio.1_Intron|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.S54C|MAGIX_uc004dmw.2_Missense_Mutation_p.S46C NM_024859 NP_079135 Q9H6Y5 MAGIX_HUMAN MAGI family member, X-linked isoform a 113 0 TAAGGCACATAGTGCTCCGAA 0.557 89 70 --- --- --- --- PASS AR 367 broad.mit.edu 37 X 66931320 66931320 + Silent SNP G A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chrX:66931320G>A uc004dwu.1 + 4 3077 c.1962G>A c.(1960-1962)GAG>GAA p.E654E AR_uc004dwv.1_Silent_p.E122E NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 653 Interaction with HIPK3 (By similarity).|Interaction with MYST2. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GCCCCACTGAGGAGACAACCC 0.507 Androgen_Insensitivity_Syndrome 8 10 --- --- --- --- PASS PABPC5 140886 broad.mit.edu 37 X 90690734 90690734 + Missense_Mutation SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chrX:90690734C>A uc004efg.2 + 2 598 c.158C>A c.(157-159)CCG>CAG p.P53Q PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 53 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 TGCCGTGATCCGGTGACCCGC 0.542 15 17 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122613996 122613996 + Missense_Mutation SNP G C C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chrX:122613996G>C uc004etq.3 + 15 2700 c.2407G>C c.(2407-2409)GGG>CGG p.G803R GRIA3_uc004etr.3_Intron|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 803 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) GTACGATAAGGGGGAATGTGG 0.438 34 33 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123514551 123514551 + Missense_Mutation SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chrX:123514551C>A uc004euj.2 - 31 8077 c.8013G>T c.(8011-8013)GAG>GAT p.E2671D ODZ1_uc011muj.1_Missense_Mutation_p.E2677D|ODZ1_uc010nqy.2_Missense_Mutation_p.E2678D NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2671 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CCCTAATCCCCTCTTCCCCCT 0.517 129 113 --- --- --- --- PASS ZDHHC9 51114 broad.mit.edu 37 X 128946745 128946745 + Silent SNP C A A TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8defff62-9395-47cb-bb19-4b8487d9ea8e 30c3332d-63d9-4c8c-ac66-424e9008f789 g.chrX:128946745C>A uc004euv.2 - 7 1095 c.726G>T c.(724-726)CTG>CTT p.L242L ZDHHC9_uc004euw.2_Silent_p.L242L NM_001008222 NP_001008223 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC domain containing 9 242 Helical; (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 GAAATCCAGTCAGTCCCACGA 0.453 64 62 --- --- --- --- PASS