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 GJB3 2707 broad.mit.edu 37 1 35250842 35250842 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:35250842G>A uc001bxx.2 + 2 1094 c.479G>A c.(478-480)CGC>CAC p.R160H GJB3_uc001bxy.2_Missense_Mutation_p.R160H|GJB3_uc001bxz.3_Missense_Mutation_p.R160H|uc010ohs.1_RNA NM_024009 NP_076872 O75712 CXB3_HUMAN connexin 31 160 Extracellular (Potential). cell communication connexon complex|integral to membrane gap junction channel activity 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AATATGCCGCGCCTGGTGCAG 0.552 C8B 732 broad.mit.edu 37 1 57395177 57395177 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:57395177C>T uc001cyp.2 - 12 1743 c.1676G>A c.(1675-1677)GGA>GAA p.G559E C8B_uc010oon.1_Missense_Mutation_p.G497E|C8B_uc010ooo.1_Missense_Mutation_p.G507E NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 559 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 CTTACGTCTTCCAGAGCATGA 0.448 HOOK1 51361 broad.mit.edu 37 1 60294482 60294482 + Missense_Mutation SNP A T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:60294482A>T uc009wad.2 + 4 282 c.180A>T c.(178-180)TTA>TTT p.L60F HOOK1_uc001czo.2_Missense_Mutation_p.L60F|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.L18F NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 60 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) AATCTTGGTTAAGCCGAATTA 0.348 COL11A1 1301 broad.mit.edu 37 1 103453212 103453212 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:103453212G>A uc001dul.2 - 30 2797 c.2479C>T c.(2479-2481)CCT>TCT p.P827S COL11A1_uc001duk.2_Silent_p.V17V|COL11A1_uc001dum.2_Missense_Mutation_p.P839S|COL11A1_uc001dun.2_Missense_Mutation_p.P788S|COL11A1_uc009weh.2_Missense_Mutation_p.P711S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 827 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.P839S(1) ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGACCTGAAGGACCTGGGTCT 0.453 PYHIN1 149628 broad.mit.edu 37 1 158912123 158912123 + Silent SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:158912123G>A uc001ftb.2 + 5 1181 c.936G>A c.(934-936)CCG>CCA p.P312P PYHIN1_uc001ftc.2_Silent_p.P303P|PYHIN1_uc001ftd.2_Silent_p.P312P|PYHIN1_uc001fte.2_Silent_p.P303P NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 312 HIN-200. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) AGAAAATTCCGAAGATCAATA 0.378 RASAL2 9462 broad.mit.edu 37 1 178425898 178425898 + Missense_Mutation SNP G T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:178425898G>T uc001glr.2 + 11 1956 c.1831G>T c.(1831-1833)GAT>TAT p.D611Y RASAL2_uc001glq.2_Missense_Mutation_p.D752Y|RASAL2_uc009wxc.2_Missense_Mutation_p.D125Y NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 611 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 TGTTCTTGCTGATATTACCAA 0.468 STX6 10228 broad.mit.edu 37 1 180971810 180971810 + Missense_Mutation SNP A G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:180971810A>G uc010pnq.1 - 3 469 c.232T>C c.(232-234)TTT>CTT p.F78L STX6_uc001goo.2_Missense_Mutation_p.F78L|STX6_uc010pnr.1_Intron NM_005819 NP_005810 O43752 STX6_HUMAN syntaxin 6 78 Cytoplasmic (Potential). Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity ovary(1) 1 TCAAGGTTAAATTTTCTAGGA 0.353 CENPF 1063 broad.mit.edu 37 1 214787153 214787153 + Missense_Mutation SNP A G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:214787153A>G uc001hkm.2 + 2 230 c.56A>G c.(55-57)AAA>AGA p.K19R NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 19 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.K19R(1) ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GCTCTTCAGAAAATTCAAGAG 0.428 OBSCN 84033 broad.mit.edu 37 1 228504460 228504460 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:228504460G>A uc009xez.1 + 51 13380 c.13336G>A c.(13336-13338)GGC>AGC p.G4446S OBSCN_uc001hsn.2_Missense_Mutation_p.G4446S NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4446 Ig-like 46. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGTCCGGGCCGGCGCACAGGC 0.672 OR2L13 284521 broad.mit.edu 37 1 248263034 248263034 + Silent SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr1:248263034C>T uc001ids.2 + 3 694 c.357C>T c.(355-357)TAC>TAT p.Y119Y NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 119 Helical; Name=3; (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) CCATGGCCTACGACCGTTATT 0.512 C10orf18 54906 broad.mit.edu 37 10 5791482 5791482 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr10:5791482C>T uc001iij.2 + 15 6723 c.6098C>T c.(6097-6099)CCT>CTT p.P2033L C10orf18_uc001iik.2_Missense_Mutation_p.P877L NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2033 ovary(1)|central_nervous_system(1) 2 CATCCTGCACCTAGGAGCAGA 0.547 ARMC3 219681 broad.mit.edu 37 10 23250972 23250972 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr10:23250972G>A uc001irm.3 + 7 780 c.697G>A c.(697-699)GGA>AGA p.G233R ARMC3_uc010qcv.1_Missense_Mutation_p.G233R|ARMC3_uc010qcw.1_Intron NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 233 ARM 6. binding 0 AGACAATCAAGGATTGGACCA 0.358 ZNF248 57209 broad.mit.edu 37 10 38126948 38126948 + Missense_Mutation SNP A G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr10:38126948A>G uc001izd.1 - 4 606 c.107T>C c.(106-108)GTG>GCG p.V36A ZNF248_uc009xmc.2_Missense_Mutation_p.V36A|ZNF248_uc001izb.2_RNA|ZNF248_uc001izc.2_Missense_Mutation_p.V36A|ZNF248_uc010qeu.1_Missense_Mutation_p.V36A NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCCAGGATCACATCTCTGTA 0.413 PTEN 5728 broad.mit.edu 37 10 89692907 89692907 + Missense_Mutation SNP A G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr10:89692907A>G uc001kfb.2 + 6 1422 c.391A>G c.(391-393)ACT>GCT p.T131A NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 131 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.T131fs*3(3)|p.?(2)|p.Y27fs*1(2)|p.K128_R130del(2)|p.Y27_N212>Y(2)|p.T131A(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131N(1)|p.T131fs*50(1)|p.T131P(1)|p.T131fs*42(1)|p.T131I(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAAGGGACGAACTGGTGTAAT 0.398 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PHRF1 57661 broad.mit.edu 37 11 608380 608380 + Missense_Mutation SNP A T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr11:608380A>T uc001lqe.2 + 14 3055 c.2924A>T c.(2923-2925)GAC>GTC p.D975V PHRF1_uc010qwc.1_Missense_Mutation_p.D974V|PHRF1_uc010qwd.1_Missense_Mutation_p.D973V|PHRF1_uc010qwe.1_Missense_Mutation_p.D971V|PHRF1_uc009ybz.1_Missense_Mutation_p.D765V|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 975 RNA polymerase binding|zinc ion binding 0 CCCAGCCCGGACGTGCTGCAG 0.657 OR51D1 390038 broad.mit.edu 37 11 4661587 4661587 + Silent SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr11:4661587C>T uc010qyk.1 + 1 567 c.567C>T c.(565-567)CAC>CAT p.H189H NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTCACACACTCCTTCTGTC 0.483 PICALM 8301 broad.mit.edu 37 11 85733503 85733503 + Missense_Mutation SNP A T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr11:85733503A>T uc001pbm.2 - 4 645 c.359T>A c.(358-360)ATG>AAG p.M120K PICALM_uc001pbl.2_Missense_Mutation_p.M120K|PICALM_uc001pbn.2_Missense_Mutation_p.M120K|PICALM_uc010rtl.1_Missense_Mutation_p.M69K NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 120 ENTH. clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) AAATGTAGACATGTCATATCC 0.289 T MLLT10|MLL TALL|AML| ANO2 57101 broad.mit.edu 37 12 5842030 5842030 + Splice_Site SNP A G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr12:5842030A>G uc001qnm.2 - 14 1506 c.1434_splice c.e14+1 p.Q478_splice NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 TGAAAACCAAACCTGGGCACG 0.483 LEPREL2 10536 broad.mit.edu 37 12 6946911 6946911 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr12:6946911G>A uc001qra.1 + 14 1761 c.1727G>A c.(1726-1728)CGC>CAC p.R576H LEPREL2_uc001qqz.1_Missense_Mutation_p.R383H|LEPREL2_uc001qrb.1_Missense_Mutation_p.R383H|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank NM_014262 NP_055077 Q8IVL6 P3H3_HUMAN leprecan-like 2 precursor 576 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity 0 L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CAAGAGCAGCGCATGGACCTG 0.652 NOS1 4842 broad.mit.edu 37 12 117768967 117768967 + Translation_Start_Site SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr12:117768967C>T uc001twm.1 - 2 594 c.-92G>A c.(-94--90)CCGTG>CCATG NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCAGGCTACACGGAGAGCAGG 0.582 UBC 7316 broad.mit.edu 37 12 125397201 125397201 + Missense_Mutation SNP G T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr12:125397201G>T uc001ugs.3 - 2 1565 c.1117C>A c.(1117-1119)CTG>ATG p.L373M UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Missense_Mutation_p.L373M|UBC_uc001ugt.2_Missense_Mutation_p.L373M|UBC_uc001ugv.2_Intron NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 373 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CGGAGCACCAGGTGCAAGGTG 0.532 OCA2 4948 broad.mit.edu 37 15 28202861 28202861 + Missense_Mutation SNP C G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr15:28202861C>G uc001zbh.3 - 16 1767 c.1657G>C c.(1657-1659)GTC>CTC p.V553L OCA2_uc010ayv.2_Missense_Mutation_p.V529L NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 553 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGCGCCAGACGTGAATCTCG 0.617 Oculocutaneous_Albinism TRPM1 4308 broad.mit.edu 37 15 31342763 31342763 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr15:31342763G>A uc001zfm.2 - 11 1348 c.1220C>T c.(1219-1221)CCG>CTG p.P407L TRPM1_uc010azy.2_Missense_Mutation_p.P314L|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 407 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GCTGTCCGTCGGGGGTGCCAG 0.453 EXD1 161829 broad.mit.edu 37 15 41483752 41483752 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr15:41483752G>A uc001znk.2 - 8 769 c.578C>T c.(577-579)ACG>ATG p.T193M EXD1_uc001znj.2_5'Flank|EXD1_uc010ucv.1_Missense_Mutation_p.T251M NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 193 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding ovary(1) 1 ATAGCCACCCGTTTCCATGGA 0.383 SPG11 80208 broad.mit.edu 37 15 44876437 44876437 + Missense_Mutation SNP T C C TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr15:44876437T>C uc001ztx.2 - 30 5472 c.5441A>G c.(5440-5442)AAT>AGT p.N1814S SPG11_uc010bdw.2_Missense_Mutation_p.N103S|SPG11_uc010ueh.1_Missense_Mutation_p.N1814S|SPG11_uc010uei.1_Missense_Mutation_p.N1814S|SPG11_uc001zty.1_Missense_Mutation_p.N543S NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1814 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TTCCTCCTGATTTCTTCCAAG 0.512 SEMA6D 80031 broad.mit.edu 37 15 48056239 48056239 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr15:48056239G>A uc010bek.2 + 10 1300 c.940G>A c.(940-942)GGG>AGG p.G314R SEMA6D_uc001zvw.2_Missense_Mutation_p.G314R|SEMA6D_uc001zvx.1_Missense_Mutation_p.G314R|SEMA6D_uc001zvy.2_Missense_Mutation_p.G314R|SEMA6D_uc001zvz.2_Missense_Mutation_p.G314R|SEMA6D_uc001zwa.2_Missense_Mutation_p.G314R|SEMA6D_uc001zwb.2_Missense_Mutation_p.G314R|SEMA6D_uc001zwc.2_Missense_Mutation_p.G314R NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 314 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CACTGTGGTCGGGGTGTTTAC 0.483 ALDH1A2 8854 broad.mit.edu 37 15 58253017 58253017 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr15:58253017C>T uc002aex.2 - 12 1493 c.1435G>A c.(1435-1437)GCC>ACC p.A479T ALDH1A2_uc002aey.2_Missense_Mutation_p.A441T|ALDH1A2_uc010ugv.1_Missense_Mutation_p.A458T|ALDH1A2_uc010ugw.1_Missense_Mutation_p.A450T|ALDH1A2_uc002aew.2_Missense_Mutation_p.A383T NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 479 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GGGCTCTGGGCATTTAAGGCA 0.408 CLDN6 9074 broad.mit.edu 37 16 3065604 3065604 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr16:3065604G>A uc002csu.3 - 2 479 c.419C>T c.(418-420)GCG>GTG p.A140V NM_021195 NP_067018 P56747 CLD6_HUMAN claudin 6 140 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 GATGGCATGCGCCGTCCAGCA 0.622 SCNN1B 6338 broad.mit.edu 37 16 23360038 23360038 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr16:23360038C>T uc002dln.2 + 2 294 c.118C>T c.(118-120)CGC>TGC p.R40C NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 40 Cytoplasmic (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CGGCCCCAAGCGCATCATCTG 0.622 ITGAD 3681 broad.mit.edu 37 16 31422517 31422517 + Missense_Mutation SNP G A A rs147338780 TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr16:31422517G>A uc002ebv.1 + 13 1526 c.1477G>A c.(1477-1479)GTG>ATG p.V493M ITGAD_uc010cap.1_Missense_Mutation_p.V493M NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 493 Extracellular (Potential).|FG-GAP 5. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 CCAGGTGTCCGTGTGTCCCTT 0.632 WDR59 79726 broad.mit.edu 37 16 74976699 74976699 + Missense_Mutation SNP A T T rs11394861 TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr16:74976699A>T uc002fdh.1 - 7 573 c.471T>A c.(469-471)AAT>AAA p.N157K WDR59_uc002fdi.2_Missense_Mutation_p.N157K|WDR59_uc002fdj.2_Missense_Mutation_p.N157K NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN WD repeat domain 59 157 WD 3. ovary(1)|breast(1) 2 CATTTTTTTTATTCCATTTGA 0.502 KCNG4 93107 broad.mit.edu 37 16 84270708 84270708 + Silent SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr16:84270708C>T uc010voc.1 - 2 505 c.384G>A c.(382-384)GCG>GCA p.A128A KCNG4_uc002fhu.1_Silent_p.A128A NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 128 Helical; Name=Segment S1; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 GCTTCCCGGCCGCCAGGAAGC 0.637 TP53 7157 broad.mit.edu 37 17 7578203 7578203 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr17:7578203C>T uc002gim.2 - 6 840 c.646G>A c.(646-648)GTG>ATG p.V216M TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.2_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.1_Missense_Mutation_p.V177M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 216 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (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.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*6(2)|p.V216fs*31(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(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) GGCACCACCACACTATGTCGA 0.537 111 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) MGAT5B 146664 broad.mit.edu 37 17 74936837 74936837 + Silent SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr17:74936837G>A uc002jti.2 + 13 1885 c.1782G>A c.(1780-1782)GCG>GCA p.A594A MGAT5B_uc002jth.2_Silent_p.A583A NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 585 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 ATCCCTACGCGGAGAACTTCA 0.552 PAPL 390928 broad.mit.edu 37 19 39597641 39597641 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr19:39597641G>A uc002oki.2 + 12 1442 c.1168G>A c.(1168-1170)GTG>ATG p.V390M PAPL_uc010egl.2_Intron NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN iron/zinc purple acid phosphatase-like protein 390 extracellular region acid phosphatase activity|metal ion binding 0 CTGGAGTGCCGTGCGTGTGAA 0.652 PSG1 5669 broad.mit.edu 37 19 43376198 43376198 + Splice_Site SNP C A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr19:43376198C>A uc002ovb.2 - 3 569 c.431_splice c.e3-1 p.L144_splice PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Splice_Site_p.L144_splice|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Splice_Site|PSG1_uc002our.1_Splice_Site_p.L144_splice|PSG1_uc010eio.1_Splice_Site_p.L144_splice|PSG1_uc002oux.1_Splice_Site_p.L73_splice|PSG1_uc002ouy.1_Splice_Site_p.L144_splice|PSG1_uc002ouz.1_Splice_Site_p.L144_splice|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Splice_Site_p.L144_splice NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) GGAGTCTCCACTGTGCAGAAA 0.527 ZNF534 147658 broad.mit.edu 37 19 52942411 52942411 + Silent SNP G A A rs113700997 TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr19:52942411G>A uc002pzk.2 + 4 1798 c.1737G>A c.(1735-1737)GCG>GCA p.A579A ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.A566A NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 579 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACACCTTGCGCGACATAGGA 0.443 IL1RN 3557 broad.mit.edu 37 2 113890330 113890330 + Missense_Mutation SNP C A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr2:113890330C>A uc002tjb.2 + 4 480 c.416C>A c.(415-417)GCC>GAC p.A139D IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Missense_Mutation_p.A105D|IL1RN_uc002tiz.2_Missense_Mutation_p.A142D|IL1RN_uc002tja.2_Missense_Mutation_p.A121D NM_173842 NP_776214 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist isoform 1 139 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity skin(2) 2 Anakinra(DB00026) TTTGAGTCTGCCGCCTGCCCC 0.572 Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of PPIG 9360 broad.mit.edu 37 2 170494029 170494029 + Missense_Mutation SNP G C C TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr2:170494029G>C uc002uez.2 + 14 2481 c.2261G>C c.(2260-2262)GGA>GCA p.G754A PPIG_uc010fpx.2_Missense_Mutation_p.G739A|PPIG_uc010fpy.2_Missense_Mutation_p.G747A|PPIG_uc002ufb.2_Missense_Mutation_p.G754A|PPIG_uc002ufd.2_Missense_Mutation_p.G751A NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 754 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) GACAAAAGCGGATGAGTGAGT 0.313 TTN 7273 broad.mit.edu 37 2 179412263 179412263 + Missense_Mutation SNP T C C TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr2:179412263T>C uc010zfg.1 - 288 86610 c.86386A>G c.(86386-86388)AAG>GAG p.K28796E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K22491E|TTN_uc010zfi.1_Missense_Mutation_p.K22424E|TTN_uc010zfj.1_Missense_Mutation_p.K22299E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29723 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAGTGCGCTTGACACTGGAA 0.413 COL6A3 1293 broad.mit.edu 37 2 238275663 238275663 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr2:238275663G>A uc002vwl.2 - 11 5452 c.5167C>T c.(5167-5169)CTT>TTT p.L1723F COL6A3_uc002vwo.2_Missense_Mutation_p.L1517F|COL6A3_uc010znj.1_Missense_Mutation_p.L1116F NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1723 VWFA 9.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGGTGCTCAAGGCCCACCTTA 0.547 BTBD3 22903 broad.mit.edu 37 20 11900455 11900455 + Silent SNP C G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr20:11900455C>G uc002wnz.2 + 3 866 c.507C>G c.(505-507)GTC>GTG p.V169V BTBD3_uc002wny.2_Silent_p.V108V|BTBD3_uc002woa.2_Silent_p.V108V|BTBD3_uc010zrf.1_Silent_p.V18V|BTBD3_uc010zrg.1_Silent_p.V18V|BTBD3_uc010zrh.1_Silent_p.V18V NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 169 BTB. ovary(2)|central_nervous_system(1) 3 TACCAGATGTCGAACCTGCTG 0.418 DEFB118 117285 broad.mit.edu 37 20 29960755 29960755 + Nonsense_Mutation SNP C T T rs34328728 TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr20:29960755C>T uc002wvr.2 + 2 180 c.154C>T c.(154-156)CGA>TGA p.R52* NM_054112 NP_473453 Q96PH6 DB118_HUMAN beta-defensin 118 precursor 52 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region ovary(3)|pancreas(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CAAAAATCTTCGAGCTTGCTG 0.438 ASXL1 171023 broad.mit.edu 37 20 31022345 31022345 + Silent SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr20:31022345C>T uc002wxs.2 + 12 2256 c.1830C>T c.(1828-1830)GGC>GGT p.G610G ASXL1_uc010geb.2_Silent_p.G501G NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 610 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1)|p.G610G(1) haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GTTGGACTGGCGCCAGGACCC 0.632 F|N|Mis MDS|CMML DLGAP4 22839 broad.mit.edu 37 20 35075140 35075140 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr20:35075140G>A uc002xff.2 + 7 1883 c.1448G>A c.(1447-1449)TGC>TAC p.C483Y DLGAP4_uc010zvp.1_Missense_Mutation_p.C483Y NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 483 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GAGGCGGCCTGCGAGTCAGCC 0.647 KRTAP19-3 337970 broad.mit.edu 37 21 31864264 31864264 + Silent SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr21:31864264G>A uc002yog.1 - 1 12 c.12C>T c.(10-12)TAC>TAT p.Y4Y NM_181609 NP_853640 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 4 intermediate filament 0 AGTAGCTGCCGTAGTAGCTCA 0.547 TPST2 8459 broad.mit.edu 37 22 26937269 26937269 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr22:26937269G>A uc003acv.2 - 2 496 c.328C>T c.(328-330)CGC>TGC p.R110C TPST2_uc003acw.2_Missense_Mutation_p.R110C|TPST2_uc003acx.2_Missense_Mutation_p.R110C|TPST2_uc011akf.1_Missense_Mutation_p.R110C NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 110 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 CAGGCCTGGCGCATGGCCAGC 0.697 ITPR1 3708 broad.mit.edu 37 3 4816936 4816936 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr3:4816936G>A uc003bqa.2 + 44 6194 c.5846G>A c.(5845-5847)CGT>CAT p.R1949H ITPR1_uc010hca.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.R919H NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 1997 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AACTTCCTCCGTTGCCAAAAT 0.483 FGD5 152273 broad.mit.edu 37 3 14905722 14905722 + Silent SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr3:14905722G>A uc003bzc.2 + 2 2723 c.2613G>A c.(2611-2613)TCG>TCA p.S871S FGD5_uc011avk.1_Silent_p.S871S NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 871 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 AGAGAAGCTCGGAGGAGGAGG 0.597 CTBP1 1487 broad.mit.edu 37 4 1209830 1209830 + Silent SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr4:1209830G>A uc003gcv.1 - 5 876 c.711C>T c.(709-711)TGC>TGT p.C237C uc003gcs.1_RNA|CTBP1_uc003gct.1_Silent_p.C218C|CTBP1_uc003gcu.1_Silent_p.C226C|CTBP1_uc003gcw.2_5'Flank NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 237 NAD (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) CGTTGAGGCCGCAGTGCAGGG 0.637 HGFAC 3083 broad.mit.edu 37 4 3449235 3449235 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr4:3449235G>A uc003ghc.2 + 11 1375 c.1372G>A c.(1372-1374)GTC>ATC p.V458I HGFAC_uc010icw.2_Missense_Mutation_p.V465I NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 458 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CAGGGACAGCGTCTCCGTGGT 0.667 ADRA2C 152 broad.mit.edu 37 4 3769412 3769412 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr4:3769412G>A uc003ghm.2 + 1 1117 c.1079G>A c.(1078-1080)CGG>CAG p.R360Q ADRA2C_uc010icx.2_Intron NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 360 Cytoplasmic (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CTGTCGCGCCGGCGCCGGGCG 0.726 AFM 173 broad.mit.edu 37 4 74354406 74354406 + Missense_Mutation SNP T C C rs139224995 byFrequency TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr4:74354406T>C uc003hhb.2 + 7 804 c.773T>C c.(772-774)CTT>CCT p.L258P NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 258 Albumin 2. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTTATTTCTCTTGTAGAAGAT 0.353 FAT4 79633 broad.mit.edu 37 4 126373451 126373451 + Silent SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr4:126373451G>A uc003ifj.3 + 9 11280 c.11280G>A c.(11278-11280)ACG>ACA p.T3760T FAT4_uc011cgp.1_Silent_p.T2058T|FAT4_uc003ifi.1_Silent_p.T1238T NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3760 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACAATAGAACGTTTCTTTTGG 0.453 ENPP6 133121 broad.mit.edu 37 4 185074883 185074883 + Missense_Mutation SNP C T T rs142786439 TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr4:185074883C>T uc003iwc.2 - 2 387 c.245G>A c.(244-246)CGC>CAC p.R82H NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 82 Extracellular (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) TTCACAATGGCGGCCTATGTC 0.453 PLEKHG4B 153478 broad.mit.edu 37 5 163558 163558 + Missense_Mutation SNP C T T rs148435989 TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr5:163558C>T uc003jak.2 + 11 2353 c.2303C>T c.(2302-2304)CCG>CTG p.P768L NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 768 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AAGAAGCTCCCGCTGTGGCAG 0.652 IPO11 51194 broad.mit.edu 37 5 61887491 61887491 + Silent SNP T A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr5:61887491T>A uc003jtc.2 + 28 2860 c.2670T>A c.(2668-2670)ACT>ACA p.T890T IPO11_uc011cqr.1_Silent_p.T930T|IPO11_uc010iwr.2_Silent_p.T155T|IPO11_uc003jte.2_Silent_p.T9T NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 890 cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) AAACAGGAACTTATAAAGAGT 0.338 SLC27A6 28965 broad.mit.edu 37 5 128301930 128301930 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr5:128301930G>A uc003kuy.2 + 2 496 c.100G>A c.(100-102)GTG>ATG p.V34M SLC27A6_uc003kuz.2_Missense_Mutation_p.V34M NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 34 Helical; (Potential). long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CTTCTGGTTCGTGTTGAAGGT 0.463 PCDHGA1 56114 broad.mit.edu 37 5 140712400 140712400 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr5:140712400C>T uc003lji.1 + 1 2149 c.2149C>T c.(2149-2151)CGG>TGG p.R717W PCDHGA1_uc011dan.1_Missense_Mutation_p.R717W NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 717 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACAGGCTGCGGCGCTGGCA 0.657 FAM153C 653316 broad.mit.edu 37 5 177466410 177466410 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr5:177466410G>A uc011dge.1 + 6 332 c.131G>A c.(130-132)CGT>CAT p.R44H FAM153C_uc003mig.1_Missense_Mutation_p.R44H NM_001079527 NP_001072995 hypothetical protein LOC653316 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTCCACAACGTGGTACGTAT 0.478 ZC3H12D 340152 broad.mit.edu 37 6 149795611 149795611 + Silent SNP C A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr6:149795611C>A uc003qmn.1 - 1 139 c.69G>T c.(67-69)GTG>GTT p.V23V PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.V23V|ZC3H12D_uc010kid.2_Silent_p.V23V NM_207360 NP_997243 A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 23 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) GCTTGCCCAACACCCGGAGCA 0.677 CYCS 54205 broad.mit.edu 37 7 25163649 25163649 + Silent SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr7:25163649C>T uc003sxl.2 - 2 235 c.90G>A c.(88-90)GGG>GGA p.G30G NM_018947 NP_061820 P99999 CYC_HUMAN cytochrome c 30 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding ovary(1)|lung(1) 2 Melatonin(DB01065)|Minocycline(DB01017) GGAGATTTGGCCCAGTCTTGT 0.443 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr7:26225102G>A uc003sxq.2 + 4 2056 c.1784G>A c.(1783-1785)TGT>TAT p.C595Y NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 595 Basic motif. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 GCGCAGAACTGTCGTAAACGC 0.368 JHDM1D 80853 broad.mit.edu 37 7 139824534 139824534 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr7:139824534C>T uc003vvm.2 - 7 942 c.938G>A c.(937-939)CGT>CAT p.R313H NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 313 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) AGATTCATAACGTGCCAAATT 0.358 OR2A2 442361 broad.mit.edu 37 7 143807248 143807248 + Silent SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr7:143807248C>T uc011ktz.1 + 1 573 c.573C>T c.(571-573)ACC>ACT p.T191T NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) GTGCTGACACCTGGGTTAACC 0.512 PLAG1 5324 broad.mit.edu 37 8 57079222 57079222 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr8:57079222C>T uc003xsq.3 - 3 1534 c.1083G>A c.(1081-1083)ATG>ATA p.M361I PLAG1_uc003xsr.3_Missense_Mutation_p.M361I|PLAG1_uc010lyi.2_Missense_Mutation_p.M361I|PLAG1_uc010lyj.2_Missense_Mutation_p.M279I NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 361 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.M361I(1) CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CTTGTAACTCCATCAGGTAAC 0.438 T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma MATN2 4147 broad.mit.edu 37 8 99044505 99044505 + Silent SNP T C C TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chr8:99044505T>C uc003yic.2 + 16 2772 c.2541T>C c.(2539-2541)TCT>TCC p.S847S MATN2_uc010mbh.1_Silent_p.S806S|MATN2_uc003yid.2_Silent_p.S847S|MATN2_uc003yie.1_Silent_p.S847S|MATN2_uc010mbi.1_Silent_p.S680S|MATN2_uc010mbj.1_Silent_p.S208S|RPL30_uc010mbk.1_Intron NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 847 proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) GACAGGACTCTCCAGCAGGGG 0.473 P2RY8 286530 broad.mit.edu 37 X 1584470 1584470 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:1584470C>T uc004cpz.2 - 2 1230 c.982G>A c.(982-984)GCC>ACC p.A328T NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 328 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTGGTCCTGGCGGAGAAGAGG 0.682 T CRLF2 B-ALL|Downs associated ALL GEMIN8 54960 broad.mit.edu 37 X 14027285 14027285 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:14027285C>T uc004cwb.2 - 5 819 c.476G>A c.(475-477)CGG>CAG p.R159Q GEMIN8_uc004cwc.2_Missense_Mutation_p.R159Q|GEMIN8_uc004cwd.2_Missense_Mutation_p.R159Q NM_017856 NP_060326 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 159 Potential. spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding 0 CTGCTGCTGCCGCCCTGAGAA 0.582 KLHL34 257240 broad.mit.edu 37 X 21674666 21674666 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:21674666G>A uc004czz.1 - 1 1783 c.1241C>T c.(1240-1242)GCG>GTG p.A414V NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 414 Kelch 2. ovary(1) 1 GTGGGCCCGCGCTTCCCGCAT 0.721 USP11 8237 broad.mit.edu 37 X 47102906 47102906 + Silent SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:47102906C>T uc004dhp.2 + 13 1824 c.1824C>T c.(1822-1824)TAC>TAT p.Y608Y USP11_uc004dhq.2_Silent_p.Y335Y NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 608 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 ACTCCTACTACGGCCTGATGC 0.592 ZNF81 347344 broad.mit.edu 37 X 47775654 47775654 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:47775654G>A uc010nhy.1 + 6 1977 c.1609G>A c.(1609-1611)GAC>AAC p.D537N NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 537 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) GGCCTTCACCGACAGGTCAAA 0.443 Unknown 0 broad.mit.edu 37 X 48159131 48159131 + Silent SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:48159131G>A uc010nib.1 - 6 489 c.402C>T c.(400-402)AAC>AAT p.N134N NM_174962 NP_777622 synovial sarcoma, X breakpoint 9 GTTTCCCATCGTTCTGTAAGC 0.468 ERCC6L 54821 broad.mit.edu 37 X 71424939 71424939 + Silent SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:71424939C>T uc004eaq.1 - 2 3775 c.3678G>A c.(3676-3678)GCG>GCA p.A1226A PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.A1103A NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 1226 TPR 2. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) TTATGTCAAGCGCTTTAACTA 0.363 TBX22 50945 broad.mit.edu 37 X 79286010 79286010 + Silent SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:79286010C>T uc010nmg.1 + 9 1097 c.963C>T c.(961-963)GGC>GGT p.G321G TBX22_uc004edi.1_Silent_p.G201G|TBX22_uc004edj.1_Silent_p.G321G NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 321 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 GAAGCAGTGGCTCATCTCCAG 0.433 H2BFWT 158983 broad.mit.edu 37 X 103267902 103267902 + Missense_Mutation SNP G A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:103267902G>A uc004elr.2 - 1 355 c.331C>T c.(331-333)CAT>TAT p.H111Y NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 111 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 AATATGTCATGAACCAAAGAA 0.637 FAM70A 55026 broad.mit.edu 37 X 119394752 119394752 + Silent SNP A G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:119394752A>G uc004eso.3 - 10 1250 c.1023T>C c.(1021-1023)TTT>TTC p.F341F FAM70A_uc004esp.3_Silent_p.F317F|FAM70A_uc010nqo.2_Silent_p.F233F NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 341 Pro-rich. integral to membrane lung(1)|breast(1) 2 GTGGCTTTTCAAAAGGTGGAT 0.507 FAM45B 55855 broad.mit.edu 37 X 129629140 129629140 + Missense_Mutation SNP C T T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:129629140C>T uc010nrh.2 + 1 226 c.8C>T c.(7-9)GCG>GTG p.A3V uc004evu.2_RNA NM_207009 NP_996892 hypothetical protein LOC404636 skin(1) 1 all cancers(201;0.0293) AAGATGGCTGCGGCCGAGTTG 0.483 F9 2158 broad.mit.edu 37 X 138623341 138623341 + Missense_Mutation SNP T G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:138623341T>G uc004fas.1 + 4 413 c.384T>G c.(382-384)TGT>TGG p.C128W F9_uc004fat.1_Intron NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 128 EGF-like 1; calcium-binding (Potential). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) GAAAGAACTGTGAATTAGGTA 0.348 GABRA3 2556 broad.mit.edu 37 X 151336828 151336828 + Missense_Mutation SNP T A A TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:151336828T>A uc010ntk.1 - 10 1591 c.1351A>T c.(1351-1353)AGT>TGT p.S451C NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 451 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTGCTGACACTGTTGTAGGTC 0.527 CTAG2 30848 broad.mit.edu 37 X 153880614 153880614 + Silent SNP T C C TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:153880614T>C uc004fmi.1 - 2 614 c.561A>G c.(559-561)CCA>CCG p.P187P CTAG2_uc004fmh.1_Intron NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 187 Poly-Pro. centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTCCCTCGGGTGGCGGCGGGC 0.602 F8 2157 broad.mit.edu 37 X 154156957 154156957 + Missense_Mutation SNP T G G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 9cd89af4-5118-4adb-aa1d-fbd03bf42a33 b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7 g.chrX:154156957T>G uc004fmt.2 - 14 5279 c.5108A>C c.(5107-5109)GAA>GCA p.E1703A NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1703 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GCTCTGATTTTCATCCTCATC 0.408