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 pox qox isArtifactMode oxoGCut CDK11B 984 broad.mit.edu 37 1 1573143 1573143 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:1573143G>T uc001agv.1 - 17 1556 c.1445C>A c.(1444-1446)CCC>CAC p.P482H CDK11B_uc009vkj.2_Missense_Mutation_p.P139H|CDK11B_uc001ags.1_Missense_Mutation_p.P340H|CDK11B_uc001agt.1_Missense_Mutation_p.P265H|CDK11B_uc001aha.1_Missense_Mutation_p.P448H|CDK11B_uc001agw.1_Missense_Mutation_p.P437H|CDK11B_uc001agy.1_Missense_Mutation_p.P480H|CDK11B_uc001agx.1_Missense_Mutation_p.P471H|CDK11B_uc001agz.1_Missense_Mutation_p.P226H NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 495 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 GACGATGTTGGGATGCTGGGC 0.607 NA 21 222 1.28e-07 4.09e-07 1 0 ARHGEF16 27237 broad.mit.edu 37 1 3397090 3397090 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:3397090G>A uc001akg.3 + 15 2317 c.2069G>A c.(2068-2070)CGT>CAT p.R690H ARHGEF16_uc001aki.2_Missense_Mutation_p.R402H|ARHGEF16_uc001akj.2_Missense_Mutation_p.R402H|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R394H NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 690 activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) ATCACCAGCCGTGTGGCCGTG 0.677 NA 6 49 0 0 0 0 MAN1C1 57134 broad.mit.edu 37 1 25944781 25944781 + Nonsense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:25944781C>T uc001bkm.2 + 1 823 c.493C>T c.(493-495)CAG>TAG p.Q165* MAN1C1_uc009vry.1_5'UTR NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 165 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) CGATGAGAGTCAGGAGCCCCA 0.637 NA 5 12 0 0 0 0 C1orf177 163747 broad.mit.edu 37 1 55279519 55279519 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:55279519G>T uc001cyb.3 + 7 849 c.795G>T c.(793-795)AAG>AAT p.K265N C1orf177_uc001cya.3_Missense_Mutation_p.K265N NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 265 0 TGAATTTCAAGAGCTTTGTAG 0.413 NA 6 60 0.00116845 0.00344411 1 0 PRKAA2 5563 broad.mit.edu 37 1 57140142 57140142 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:57140142A>C uc001cyk.3 + 2 254 c.183A>C c.(181-183)ATA>ATC p.I61I NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 61 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 TTGGAAAAATAAAACGAGAAA 0.294 NA 18 62 0 0 0 0 USP33 23032 broad.mit.edu 37 1 78194375 78194375 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:78194375C>T uc001dht.2 - 11 1180 c.833G>A c.(832-834)TGT>TAT p.C278Y USP33_uc001dhs.2_5'UTR|USP33_uc001dhu.2_Missense_Mutation_p.C247Y|USP33_uc001dhv.2_Missense_Mutation_p.C83Y|USP33_uc001dhw.2_Missense_Mutation_p.C278Y NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 278 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 ATCCATTAAACATCGAAGGAA 0.353 NA 28 50 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152283083 152283083 + Missense_Mutation SNP C C T rs148844389 byFrequency TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:152283083C>T uc001ezu.1 - 3 4315 c.4279G>A c.(4279-4281)GCA>ACA p.A1427T uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1427 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCCACGTGCGGACTCTTTG 0.557 NA Ichthyosis 38 318 0 0 0 0 PPOX 5498 broad.mit.edu 37 1 161140306 161140306 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:161140306G>A uc001fyj.2 + 10 1385 c.1095G>A c.(1093-1095)GTG>GTA p.V365V PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Silent_p.V365V|PPOX_uc001fyl.2_Silent_p.V331V|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Silent_p.V203V|PPOX_uc001fyh.2_Silent_p.V203V|PPOX_uc010pkg.1_Silent_p.V203V|PPOX_uc009wuc.1_Intron|PPOX_uc010pkh.1_Silent_p.V110V|PPOX_uc001fyi.2_Silent_p.V203V NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 365 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCCTCAGAGTGACTGTGAGGA 0.542 NA Porphyria_Variegata 10 66 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563958 176563958 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:176563958G>T uc001gkz.2 + 3 2382 c.1218G>T c.(1216-1218)TTG>TTT p.L406F PAPPA2_uc001gky.1_Missense_Mutation_p.L406F|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 406 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCCGCTCTTTGCTCCTGGGGG 0.587 NA 32 59 4.32e-19 1.45e-18 1 0 USH2A 7399 broad.mit.edu 37 1 216380633 216380633 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:216380633C>G uc001hku.1 - 16 3685 c.3298G>C c.(3298-3300)GAG>CAG p.E1100Q USH2A_uc001hkv.2_Missense_Mutation_p.E1100Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1100 Extracellular (Potential).|Fibronectin type-III 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATTGATCCTCTGTTGTGTAG 0.373 NA HNSCC(13;0.011) 9 48 0 0 0 0 HEATR1 55127 broad.mit.edu 37 1 236760193 236760193 + Silent SNP T T C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:236760193T>C uc001hyd.1 - 6 812 c.687A>G c.(685-687)GTA>GTG p.V229V NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 229 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CCTCTGCAGCTACCAGCGCCG 0.448 NA 10 80 0 0 0 0 OR14A16 284532 broad.mit.edu 37 1 247978414 247978414 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:247978414G>A uc001idm.1 - 1 618 c.618C>T c.(616-618)TTC>TTT p.F206F NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAAAACAGCAGAAATCCAAAA 0.373 NA 4 50 0 0 0 0 OR2T27 403239 broad.mit.edu 37 1 248814121 248814121 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:248814121C>T uc010pzo.1 - 1 65 c.65G>A c.(64-66)CGT>CAT p.R22H NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCAGGGGAAACGGGCGTTGCT 0.483 NA 13 86 0 0 0 0 CCDC6 8030 broad.mit.edu 37 10 61666054 61666054 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr10:61666054A>C uc001jks.3 - 1 765 c.129T>G c.(127-129)GGT>GGG p.G43G NM_005436 NP_005427 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 43 Poly-Gly. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton ovary(3)|breast(1) 4 Kidney(211;0.0597) CCGACTTCccaccgccgccgc 0.537 NA 10 51 0 0 0 0 TNKS2 80351 broad.mit.edu 37 10 93602105 93602105 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr10:93602105C>T uc001khp.2 + 16 2313 c.2016C>T c.(2014-2016)TGC>TGT p.C672C NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 672 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) ATGTAAATTGCCGCGATACCC 0.418 NA 4 44 0 0 0 0 PDE6C 5146 broad.mit.edu 37 10 95386572 95386572 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr10:95386572G>T uc001kiu.3 + 7 1153 c.1015G>T c.(1015-1017)GCA>TCA p.A339S NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 339 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) GACGCCTCCTGCAGACCACTG 0.378 NA 6 39 8.13e-05 0.000247141 1 0 C10orf95 79946 broad.mit.edu 37 10 104210810 104210810 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr10:104210810C>T uc001kvo.1 - 2 253 c.178G>A c.(178-180)GGC>AGC p.G60S uc001kvp.1_Intron|uc001kvq.1_Intron|uc001kvr.1_5'Flank NM_024886 NP_079162 Q9H7T3 CJ095_HUMAN hypothetical protein LOC79946 60 Arg/Pro-rich. liver(1) 1 Colorectal(252;0.207) Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213) CGGCGGCGGCCAGACGCCCTG 0.716 NA 7 16 0 0 0 0 STK33 65975 broad.mit.edu 37 11 8414255 8414255 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:8414255A>C uc001mgi.1 - 12 2266 c.1347T>G c.(1345-1347)TCT>TCG p.S449S STK33_uc001mgj.1_Silent_p.S449S|STK33_uc001mgk.1_Silent_p.S449S|STK33_uc010rbn.1_Silent_p.S408S|STK33_uc001mgl.3_Silent_p.S262S NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 449 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CATAAGCAGTAGACTGCAAAT 0.378 NA 28 49 0 0 0 0 TRIM48 79097 broad.mit.edu 37 11 55032644 55032644 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:55032644G>A uc010rid.1 + 2 399 c.313G>A c.(313-315)GAG>AAG p.E105K NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 89 B box-type. intracellular zinc ion binding 0 CCTGAGCTCTGAGGAGCAAAT 0.483 NA 8 61 0 0 0 0 OR4C6 219432 broad.mit.edu 37 11 55433284 55433284 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:55433284G>A uc001nht.3 + 3 907 c.642G>A c.(640-642)GCG>GCA p.A214A OR4C6_uc010rik.1_Silent_p.A214A NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TCTTAATTGCGTCCTACACGG 0.517 NA 30 86 0 0 0 0 CYBASC3 220002 broad.mit.edu 37 11 61124072 61124072 + Missense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:61124072A>T uc001nrf.3 - 1 290 c.114T>A c.(112-114)AAT>AAA p.N38K CYBASC3_uc010rlh.1_Missense_Mutation_p.N55K|CYBASC3_uc001nrg.2_Missense_Mutation_p.N38K|CYBASC3_uc009ynn.2_RNA|CYBASC3_uc001nrh.2_Missense_Mutation_p.N38K|CYBASC3_uc001nri.2_Intron|CYBASC3_uc009yno.2_Missense_Mutation_p.N38K NM_001161452 NP_001154924 Q8NBI2 CYAC3_HUMAN cytochrome b, ascorbate dependent 3 isoform 2 38 Cytochrome b561. electron transport chain|transport integral to membrane|late endosome membrane|lysosomal membrane metal ion binding|oxidoreductase activity 0 AGATGCTGCCATTCCAGGCAA 0.547 NA 24 91 0 0 0 0 CYBASC3 220002 broad.mit.edu 37 11 61124075 61124075 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:61124075C>A uc001nrf.3 - 1 287 c.111G>T c.(109-111)TGG>TGT p.W37C CYBASC3_uc010rlh.1_Missense_Mutation_p.W54C|CYBASC3_uc001nrg.2_Missense_Mutation_p.W37C|CYBASC3_uc009ynn.2_RNA|CYBASC3_uc001nrh.2_Missense_Mutation_p.W37C|CYBASC3_uc001nri.2_Intron|CYBASC3_uc009yno.2_Missense_Mutation_p.W37C NM_001161452 NP_001154924 Q8NBI2 CYAC3_HUMAN cytochrome b, ascorbate dependent 3 isoform 2 37 Cytochrome b561. electron transport chain|transport integral to membrane|late endosome membrane|lysosomal membrane metal ion binding|oxidoreductase activity 0 TGCTGCCATTCCAGGCAAAGC 0.547 NA 20 90 2.38e-13 7.9e-13 1 0 CACNA1C 775 broad.mit.edu 37 12 2224421 2224421 + Missense_Mutation SNP T T A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:2224421T>A uc009zdu.1 + 2 394 c.81T>A c.(79-81)CAT>CAA p.H27Q CACNA1C_uc009zdv.1_Missense_Mutation_p.H27Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qke.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.H27Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.H27Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qko.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qku.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qks.2_Missense_Mutation_p.H27Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.H27Q NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 27 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCCCCGCCCATGCCAACATGA 0.622 NA 6 9 0 0 0 0 ETV6 2120 broad.mit.edu 37 12 12022466 12022466 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:12022466G>A uc001qzz.2 + 5 846 c.572G>A c.(571-573)CGG>CAG p.R191Q ETV6_uc001raa.1_5'UTR NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 191 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) ACAAATCACCGGCCTTCTCCT 0.642 NA 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 56 336 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20832977 20832977 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:20832977C>G uc001reh.1 + 16 3220 c.3198C>G c.(3196-3198)TTC>TTG p.F1066L NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 1066 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AGAAGACTTTCAAAAGGAGAA 0.358 NA 7 57 0 0 0 0 ABCC9 10060 broad.mit.edu 37 12 21967641 21967641 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:21967641G>A uc001rfi.1 - 33 4059 c.4039C>T c.(4039-4041)CGC>TGC p.R1347C ABCC9_uc001rfh.2_Missense_Mutation_p.R1347C|ABCC9_uc001rfj.1_Missense_Mutation_p.R1311C NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1347 Cytoplasmic (Potential).|ATP 2 (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGCCAGTGCGACCACATATG 0.388 NA 8 47 0 0 0 0 RASAL1 8437 broad.mit.edu 37 12 113537802 113537802 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:113537802C>A uc001tum.1 - 22 2640 c.2347G>T c.(2347-2349)GAT>TAT p.D783Y RASAL1_uc010syp.1_Missense_Mutation_p.D784Y|RASAL1_uc001tul.2_Missense_Mutation_p.D755Y|RASAL1_uc001tun.1_Missense_Mutation_p.D785Y NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 783 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 TGGGCACGATCCAGGTCTGCG 0.677 NA 13 34 5.51e-06 1.71e-05 1 0 DIS3 22894 broad.mit.edu 37 13 73346872 73346872 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr13:73346872G>A uc001vix.3 - 9 1719 c.1345C>T c.(1345-1347)CTT>TTT p.L449F DIS3_uc001viy.3_Missense_Mutation_p.L419F|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 449 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AGAAAACTAAGAACAGCCTGT 0.363 NA Multiple Myeloma(4;0.011) 4 98 0 0 0 0 PCCA 5095 broad.mit.edu 37 13 100861712 100861712 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr13:100861712G>A uc001voo.2 + 7 633 c.595G>A c.(595-597)GTC>ATC p.V199I PCCA_uc010aga.2_Missense_Mutation_p.V173I|PCCA_uc010tiz.1_Missense_Mutation_p.V199I NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 199 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TGATGGAGTAGTCAAGGTGAG 0.338 NA 10 63 0 0 0 0 NEIL1 79661 broad.mit.edu 37 15 75641409 75641409 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr15:75641409G>A uc002bad.2 + 2 669 c.163G>A c.(163-165)GAG>AAG p.E55K NEIL1_uc002bae.2_Missense_Mutation_p.E141K NM_024608 NP_078884 Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 55 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding ovary(1) 1 CCGCGGCAAGGAGCTGCGCCT 0.647 NA BER_DNA_glycosylases 4 49 0 0 0 0 KIAA1024 23251 broad.mit.edu 37 15 79750590 79750590 + Nonsense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr15:79750590A>T uc002bew.1 + 2 2176 c.2101A>T c.(2101-2103)AAA>TAA p.K701* KIAA1024_uc010unk.1_Nonsense_Mutation_p.K701* NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 701 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 GGCCTTAAAAAAAAGCCTCTT 0.552 NA 12 108 0 0 0 0 PKD1 5310 broad.mit.edu 37 16 2159543 2159543 + Silent SNP G G C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr16:2159543G>C uc002cos.1 - 15 5834 c.5625C>G c.(5623-5625)GTC>GTG p.V1875V PKD1_uc002cot.1_Silent_p.V1875V NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1875 PKD 14.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 ACGTGGCTGAGACCCAGCTGA 0.652 NA 8 13 0 0 0 0 ALG1 56052 broad.mit.edu 37 16 5127458 5127458 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr16:5127458C>A uc002cym.2 + 5 593 c.552C>A c.(550-552)TTC>TTA p.F184L ALG1_uc002cyj.2_Missense_Mutation_p.F73L|ALG1_uc002cyn.2_Missense_Mutation_p.F184L|ALG1_uc010bue.2_Missense_Mutation_p.F73L|ALG1_uc010uxy.1_Missense_Mutation_p.F73L NM_019109 NP_061982 Q9BT22 ALG1_HUMAN beta-1,4-mannosyltransferase 184 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(90;0.0164) ACGAGAAGTTCTTTGGGCGCC 0.552 NA 19 100 1.02e-10 3.35e-10 1 0 RNF40 9810 broad.mit.edu 37 16 30779808 30779808 + Silent SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr16:30779808C>A uc002dzq.2 + 13 2059 c.1936C>A c.(1936-1938)CGG>AGG p.R646R RNF40_uc010caa.2_Silent_p.R646R|RNF40_uc010cab.2_Silent_p.R546R|RNF40_uc010vfa.1_5'UTR|RNF40_uc002dzr.2_Silent_p.R646R|RNF40_uc010vfb.1_Silent_p.R338R|RNF40_uc010vfc.1_5'UTR NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 646 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) AGAAACCAAGCGGAAGGAATC 0.597 NA 4 75 0.00024832 0.000751641 1 0 ANKRD11 29123 broad.mit.edu 37 16 89348419 89348419 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr16:89348419G>A uc002fmx.1 - 9 4992 c.4531C>T c.(4531-4533)CCC>TCC p.P1511S ANKRD11_uc002fmy.1_Missense_Mutation_p.P1511S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1511S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1468S NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1511 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGCACGCGGGGCGGGCTGTCC 0.632 NA 4 66 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:7578534C>G uc002gim.2 - 5 590 c.396G>C c.(394-396)AAG>AAC p.K132N TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 132 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and 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.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(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) GGCAAAACATCTTGTTGAGGG 0.562 111 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 15 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10447033 10447033 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:10447033G>A uc010coi.2 - 8 864 c.736C>T c.(736-738)CGC>TGC p.R246C uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R246C|MYH2_uc010coj.2_Missense_Mutation_p.R246C NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 246 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTTACAAAGCGAGAGGAGTTG 0.448 NA 6 54 0 0 0 0 TOP2A 7153 broad.mit.edu 37 17 38552685 38552685 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:38552685T>G uc002huq.2 - 28 3696 c.3570A>C c.(3568-3570)CAA>CAC p.Q1190H NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 1190 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GAAGTCCGACTTGTTCATCTT 0.413 NA 12 108 0 0 0 0 STXBP4 252983 broad.mit.edu 37 17 53158448 53158448 + Missense_Mutation SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:53158448A>C uc002iuf.1 + 16 1600 c.1393A>C c.(1393-1395)ACA>CCA p.T465P STXBP4_uc010dcd.1_Missense_Mutation_p.T443P NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 465 cytoplasm calcium ion binding ovary(1) 1 GACTTCCCTCACACCACTGGG 0.393 NA 4 47 0 0 0 0 STRADA 92335 broad.mit.edu 37 17 61781730 61781730 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:61781730C>A uc002jbm.2 - 11 1230 c.1071G>T c.(1069-1071)GAG>GAT p.E357D STRADA_uc002jbn.2_Missense_Mutation_p.E299D|STRADA_uc002jbo.2_Missense_Mutation_p.E320D|STRADA_uc002jbp.2_Missense_Mutation_p.E320D|STRADA_uc002jbq.2_Missense_Mutation_p.E299D|STRADA_uc010wpq.1_Intron|STRADA_uc010wpr.1_Intron|STRADA_uc010ddw.2_Missense_Mutation_p.E328D|STRADA_uc002jbr.2_3'UTR NM_001003787 NP_001003787 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha isoform 1 357 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity ovary(1) 1 GAAGGCACTGCTCCACAAAGT 0.662 NA 4 25 0.00116845 0.00344411 1 0 AXIN2 8313 broad.mit.edu 37 17 63526139 63526139 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:63526139C>T uc002jfi.2 - 11 2776 c.2487G>A c.(2485-2487)CCG>CCA p.P829P AXIN2_uc002jfh.2_Silent_p.P764P NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 829 DIX. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 CTTCATACATCGGGAGCACCG 0.507 NA Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 15 88 0 0 0 0 GPS1 2873 broad.mit.edu 37 17 80013938 80013938 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:80013938G>A uc002kdl.1 + 8 953 c.908G>A c.(907-909)CGG>CAG p.R303Q GPS1_uc002kdk.1_Missense_Mutation_p.R339Q|GPS1_uc010dij.1_Missense_Mutation_p.R338Q|GPS1_uc002kdm.1_Missense_Mutation_p.R283Q|GPS1_uc002kdn.1_Missense_Mutation_p.R299Q|GPS1_uc002kdo.1_Missense_Mutation_p.R302Q|GPS1_uc010wvh.1_Missense_Mutation_p.R295Q NM_004127 NP_004118 Q13098 CSN1_HUMAN G protein pathway suppressor 1 isoform 2 303 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) ACCTTTGACCGGCAGGAGCTG 0.657 NA 4 29 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 7043287 7043287 + Missense_Mutation SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr18:7043287A>C uc002knm.2 - 8 1188 c.1094T>G c.(1093-1095)TTG>TGG p.L365W LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 365 Laminin EGF-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGTTCTGCAAGCAATTTAT 0.388 NA 58 145 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50977000 50977000 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr18:50977000T>G uc002lfe.1 + 23 3947 c.3360T>G c.(3358-3360)ATT>ATG p.I1120M DCC_uc010dpf.1_Missense_Mutation_p.I755M NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1120 Helical; (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGGCTGTGATTTGCACCCGAC 0.488 NA 6 36 0 0 0 0 AP3D1 8943 broad.mit.edu 37 19 2121250 2121250 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:2121250C>T uc002luz.2 - 13 1385 c.1162G>A c.(1162-1164)GAG>AAG p.E388K AP3D1_uc002luy.2_Missense_Mutation_p.E297K|AP3D1_uc002lva.2_Missense_Mutation_p.E388K NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 388 HEAT 8. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) 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) GTGGTACCCTCTGCCTTGTCT 0.542 NA 6 69 0 0 0 0 ZNF823 55552 broad.mit.edu 37 19 11832973 11832973 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:11832973T>G uc002msm.2 - 4 1502 c.1376A>C c.(1375-1377)CAA>CCA p.Q459P ZNF823_uc010xmd.1_Missense_Mutation_p.Q277P|ZNF823_uc010dyi.1_Missense_Mutation_p.Q415P NM_001080493 NP_001073962 P16415 ZN823_HUMAN ZFP-36 for a zinc finger protein 459 C2H2-type 11; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CTCATGATTTTGAAAGGAAGA 0.423 NA HNSCC(68;0.2) 6 104 0 0 0 0 NCAN 1463 broad.mit.edu 37 19 19334919 19334919 + Missense_Mutation SNP A A G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:19334919A>G uc002nlz.2 + 4 664 c.565A>G c.(565-567)ATT>GTT p.I189V NCAN_uc010ecc.1_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 189 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CTCAGCCATCATTGCAGCCCC 0.602 NA 21 45 0 0 0 0 CILP2 148113 broad.mit.edu 37 19 19655256 19655256 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:19655256G>A uc002nmv.3 + 8 1987 c.1902G>A c.(1900-1902)CTG>CTA p.L634L CILP2_uc002nmw.3_Silent_p.L640L NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 634 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 ACGGCGAGCTGGCTCCACTGC 0.736 NA 7 123 0 0 0 0 PSG8 440533 broad.mit.edu 37 19 43259212 43259212 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:43259212C>T uc002ouo.2 - 4 1014 c.916G>A c.(916-918)GGA>AGA p.G306R PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.G145R|PSG8_uc002ouh.2_Missense_Mutation_p.G306R|PSG8_uc010ein.2_Missense_Mutation_p.G184R|PSG8_uc002ouj.3_Missense_Mutation_p.G88R|PSG8_uc002ouk.3_Missense_Mutation_p.G145R|PSG8_uc002oul.3_Missense_Mutation_p.G306R|PSG8_uc002oum.3_Missense_Mutation_p.G213R|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.G213R NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 306 Ig-like C2-type 2. extracellular region 0 Prostate(69;0.00899) TGATAGGGTCCTGTTTCATTT 0.498 NA 46 206 0 0 0 0 SYT3 84258 broad.mit.edu 37 19 51135984 51135984 + Nonsense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:51135984A>T uc002pst.2 - 2 867 c.233T>A c.(232-234)TTG>TAG p.L78* SYT3_uc002psv.2_Nonsense_Mutation_p.L78*|SYT3_uc010ycd.1_Nonsense_Mutation_p.L78* NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 78 Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CACCCAGCACAACTTCCAGGA 0.632 NA 6 99 0 0 0 0 HEATR5B 54497 broad.mit.edu 37 2 37284598 37284598 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:37284598T>G uc002rpp.1 - 15 2181 c.2085A>C c.(2083-2085)GAA>GAC p.E695D NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 695 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) CCGCTACCAGTTCTCTAAGAA 0.363 NA 6 23 0 0 0 0 QPCT 25797 broad.mit.edu 37 2 37599902 37599902 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:37599902G>A uc002rqg.2 + 7 1140 c.1018G>A c.(1018-1020)GAT>AAT p.D340N QPCT_uc002rqh.2_Missense_Mutation_p.D291N NM_012413 NP_036545 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase precursor 340 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1) 1 Ovarian(717;0.051)|all_hematologic(82;0.21) AGAAAATTTGGATGAATCAAC 0.358 NA 4 75 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 80816531 80816531 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:80816531T>G uc010ysh.1 + 14 2115 c.2110T>G c.(2110-2112)TGG>GGG p.W704G CTNNA2_uc010yse.1_Missense_Mutation_p.W704G|CTNNA2_uc010ysf.1_Missense_Mutation_p.W704G|CTNNA2_uc010ysg.1_Missense_Mutation_p.W704G|CTNNA2_uc010ysi.1_Missense_Mutation_p.W336G|CTNNA2_uc010ysj.1_Missense_Mutation_p.W33G NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 704 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGTGGCCAAATGGGACGACAG 0.498 NA 9 81 0 0 0 0 ZRANB3 84083 broad.mit.edu 37 2 135965229 135965229 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:135965229C>T uc002tum.2 - 19 2901 c.2784G>A c.(2782-2784)GCG>GCA p.A928A ZRANB3_uc002tuk.2_Silent_p.A471A|ZRANB3_uc002tul.2_Silent_p.A926A NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 928 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) CCCAAGAGTTCGCTTTACATG 0.428 NA 28 194 0 0 0 0 STK39 27347 broad.mit.edu 37 2 169020294 169020294 + Missense_Mutation SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:169020294A>C uc002uea.2 - 4 687 c.527T>G c.(526-528)GTT>GGT p.V176G NM_013233 NP_037365 Q9UEW8 STK39_HUMAN serine threonine kinase 39 (STE20/SPS1 homolog, 176 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 GCCTTCCAAAACCTCTTTAAG 0.363 NA 5 50 0 0 0 0 CERKL 375298 broad.mit.edu 37 2 182414397 182414397 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:182414397G>A uc002unx.2 - 7 1038 c.937C>T c.(937-939)CCT>TCT p.P313S CERKL_uc002uny.2_Missense_Mutation_p.P287S|CERKL_uc010zfm.1_Missense_Mutation_p.P269S|CERKL_uc002unz.2_Missense_Mutation_p.P35S|CERKL_uc002uoa.2_Missense_Mutation_p.P218S|CERKL_uc002uob.2_Missense_Mutation_p.P35S|CERKL_uc002uoc.2_Missense_Mutation_p.P174S|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.P82S|CERKL_uc002uoe.2_Missense_Mutation_p.P287S|CERKL_uc002unw.2_5'Flank NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 313 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATCACATGAGGAACTCCATGA 0.343 NA 11 80 0 0 0 0 SMTN 6525 broad.mit.edu 37 22 31491537 31491537 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr22:31491537C>A uc003ajl.1 + 13 2021 c.1803C>A c.(1801-1803)GAC>GAA p.D601E SMTN_uc003ajk.1_Missense_Mutation_p.D601E|SMTN_uc003ajm.1_Missense_Mutation_p.D601E|SMTN_uc011ale.1_Missense_Mutation_p.D686E|SMTN_uc011alf.1_Missense_Mutation_p.D657E|SMTN_uc003ajn.1_Missense_Mutation_p.D624E|SMTN_uc011alg.1_Missense_Mutation_p.D57E|SMTN_uc003ajo.1_Missense_Mutation_p.D200E|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Missense_Mutation_p.D57E NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 601 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 AGAGCACGGACTTTGAAGAGC 0.577 NA 15 37 3.27e-08 1.05e-07 1 0 ACO2 50 broad.mit.edu 37 22 41919936 41919936 + Silent SNP G G A rs148997312 TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr22:41919936G>A uc003bac.2 + 12 1495 c.1473G>A c.(1471-1473)ACG>ACA p.T491T ACO2_uc003bad.2_Silent_p.T516T NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 491 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 CCTTTGTCACGTCCCCAGAGG 0.617 NA 9 33 0 0 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378750 113378750 + Silent SNP G G C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:113378750G>C uc003eam.2 - 7 2190 c.1779C>G c.(1777-1779)CTC>CTG p.L593L KIAA2018_uc003eal.2_Silent_p.L537L NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 593 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GAGCAGGGAGGAGTGGCAAAG 0.473 NA 30 67 0 0 0 0 SRPRB 58477 broad.mit.edu 37 3 133538447 133538447 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:133538447C>A uc003epx.1 + 7 669 c.653C>A c.(652-654)TCC>TAC p.S218Y NM_021203 NP_067026 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, beta 218 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity ovary(1) 1 CTGGACAGTTCCAGCACTGCC 0.517 NA 7 71 0.000673444 0.00201139 1 0 HTR3D 200909 broad.mit.edu 37 3 183754191 183754191 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:183754191G>T uc011bqv.1 + 4 409 c.409G>T c.(409-411)GCT>TCT p.A137S HTR3D_uc003fmj.2_Missense_Mutation_p.A2S|HTR3D_uc011bqu.1_Missense_Mutation_p.A76S|HTR3D_uc010hxp.2_Intron NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 137 Extracellular (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGGTCTCATGGCTAGTATGTC 0.507 NA 16 23 4.15e-12 1.37e-11 1 0 PYDC2 152138 broad.mit.edu 37 3 191179054 191179054 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:191179054C>A uc011bso.1 + 1 103 c.103C>A c.(103-105)CTG>ATG p.L35M NM_001083308 NP_001076777 Q56P42 PYDC2_HUMAN pyrin domain containing 2 35 DAPIN. cytoplasm|nucleus 0 AACAATCTCCCTGGGAAAGGA 0.537 NA 10 96 7.48e-07 2.36e-06 1 0 MUC20 200958 broad.mit.edu 37 3 195447901 195447901 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:195447901C>G uc010hzo.2 + 1 149 c.23C>G c.(22-24)GCT>GGT p.A8G NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L 8 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TGGGGTCTGGCTCTGCCCCTT 0.617 NA 2 7 0 0 0 0 SLC26A1 10861 broad.mit.edu 37 4 985266 985266 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr4:985266C>A uc003gcb.2 - 3 604 c.226G>T c.(226-228)GGG>TGG p.G76W SLC26A1_uc003gbx.2_Missense_Mutation_p.G76W|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.G76W NM_213613 NP_998778 Q9H2B4 S26A1_HUMAN solute carrier family 26, member 1 isoform a 76 Helical; (Potential). integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ATGACCAGCCCAGACATGACG 0.662 NA 5 88 0.000602214 0.00180664 1 0 PCDHB1 29930 broad.mit.edu 37 5 140432406 140432406 + Missense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr5:140432406A>T uc003lik.1 + 1 1428 c.1351A>T c.(1351-1353)ATA>TTA p.I451L NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 451 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATCCTCCAATATTTCGGGA 0.423 NA 9 60 0 0 0 0 HTR4 3360 broad.mit.edu 37 5 147845444 147845444 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr5:147845444C>G uc003lpi.1 - 7 1285 c.1121G>C c.(1120-1122)AGA>ACA p.R374T HTR4_uc010jgu.1_RNA|HTR4_uc003lpj.1_Intron NM_199453 NP_955525 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform g Error:Variant_position_missing_in_Q13639_after_alignment G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) AGGAACTGGTCTATTGCAGAA 0.443 NA 5 144 0 0 0 0 BCKDHB 594 broad.mit.edu 37 6 80878708 80878708 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr6:80878708G>A uc003pjd.2 + 5 661 c.594G>A c.(592-594)CAG>CAA p.Q198Q BCKDHB_uc003pje.2_Silent_p.Q198Q NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta 198 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) ATCATTCTCAGAGTCCTGAAG 0.423 NA 7 81 0 0 0 0 UNC93A 54346 broad.mit.edu 37 6 167721317 167721317 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr6:167721317C>T uc003qvq.2 + 7 1202 c.1027C>T c.(1027-1029)CGT>TGT p.R343C UNC93A_uc003qvr.2_Missense_Mutation_p.R301C NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 343 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GTGGAGACCTCGTGCTGACCA 0.617 NA 7 63 0 0 0 0 CHST12 55501 broad.mit.edu 37 7 2472309 2472309 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:2472309T>G uc003smc.2 + 2 170 c.35T>G c.(34-36)GTG>GGG p.V12G CHST12_uc003smd.2_Missense_Mutation_p.V12G NM_018641 NP_061111 Q9NRB3 CHSTC_HUMAN carbohydrate sulfotransferase 12 12 Helical; Signal-anchor for type II membrane protein; (Potential). dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding kidney(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTGTGGCTGGTGCTGGGGTCG 0.662 NA 8 55 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11468652 11468652 + Silent SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:11468652C>G uc003ssf.3 - 14 3417 c.3165G>C c.(3163-3165)GTG>GTC p.V1055V NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1055 TSP type-1 11.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AACGAACCTTCACACCACTCC 0.517 NA HNSCC(18;0.044) 17 317 0 0 0 0 SRRT 51593 broad.mit.edu 37 7 100483362 100483362 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:100483362C>T uc003uwy.2 + 12 1626 c.1358C>T c.(1357-1359)TCA>TTA p.S453L SRRT_uc010lhl.1_Missense_Mutation_p.S452L|SRRT_uc003uxa.2_Missense_Mutation_p.S452L|SRRT_uc003uwz.2_Missense_Mutation_p.S453L NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 453 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 GTGGCGCTCTCAGAGCCCCAG 0.537 NA 18 99 0 0 0 0 CPA4 51200 broad.mit.edu 37 7 129948151 129948151 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:129948151G>T uc003vpr.2 + 8 754 c.707G>T c.(706-708)CGA>CTA p.R236L CPA4_uc011kpd.1_Missense_Mutation_p.R203L|CPA4_uc011kpe.1_Missense_Mutation_p.R132L NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein 236 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TTTCAGAACCGATTATGGAGG 0.557 NA 18 44 6.94e-10 2.28e-09 1 0 FAM110B 90362 broad.mit.edu 37 8 59059406 59059406 + Missense_Mutation SNP T T C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr8:59059406T>C uc003xtj.1 + 5 1497 c.617T>C c.(616-618)GTG>GCG p.V206A NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 206 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) ATCCGCAAGGTGACCAGCGTG 0.657 NA 11 72 0 0 0 0 SULF1 23213 broad.mit.edu 37 8 70536227 70536227 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr8:70536227G>A uc010lza.1 + 15 2362 c.1645G>A c.(1645-1647)GAA>AAA p.E549K SULF1_uc003xyd.2_Missense_Mutation_p.E549K|SULF1_uc003xye.2_Missense_Mutation_p.E549K|SULF1_uc003xyf.2_Missense_Mutation_p.E549K|SULF1_uc003xyg.2_Missense_Mutation_p.E549K|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 549 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CTTGTCCGTCGAATTTGAAGG 0.408 NA 11 63 0 0 0 0 TEK 7010 broad.mit.edu 37 9 27220088 27220088 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr9:27220088G>A uc003zqi.3 + 21 3587 c.3145G>A c.(3145-3147)GAG>AAG p.E1049K TEK_uc011lno.1_Missense_Mutation_p.E1006K|TEK_uc011lnp.1_Missense_Mutation_p.E901K NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 1049 Protein kinase.|Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) AGAACTCTACGAGAAGCTGCC 0.532 NA 6 96 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627757 43627757 + Silent SNP A A G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr9:43627757A>G uc011lrb.1 - 4 959 c.930T>C c.(928-930)TGT>TGC p.C310C NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 310 integral to membrane 0 CTTCCATCTGACAGGTCTCTG 0.532 NA 4 216 0 0 0 0 ASPN 54829 broad.mit.edu 37 9 95236914 95236914 + Nonsense_Mutation SNP G G C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr9:95236914G>C uc004ase.1 - 2 510 c.266C>G c.(265-267)TCA>TGA p.S89* CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Nonsense_Mutation_p.S89* NM_017680 NP_060150 Q9BXN1 ASPN_HUMAN asporin precursor 89 LRRNT.|Cys-rich. bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding 0 ACCTAAATCTGAGCAATGTAC 0.323 NA 4 26 0 0 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734913 12734913 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chrX:12734913G>A uc004cuz.1 + 15 2841 c.2335G>A c.(2335-2337)GAC>AAC p.D779N FRMPD4_uc011mij.1_Missense_Mutation_p.D771N NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 779 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 GTCAAGCGATGACATCATTGA 0.592 NA 9 100 0 0 0 0 GLOD5 392465 broad.mit.edu 37 X 48629492 48629492 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chrX:48629492C>T uc011mmh.1 + 3 392 c.351C>T c.(349-351)CAC>CAT p.H117H NM_001080489 NP_001073958 glyoxalase domain containing 5 0 TGATCCAGCACCTCAAGGTGA 0.483 NA 18 10 0 0 0 0 EIF4G2 1982 broad.mit.edu 37 11 10821256 10821260 + Frame_Shift_Del DEL CCTTT CCTTT - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:10821256_10821260delCCTTT uc001mjc.2 - 19 2580_2584 c.2163_2167delAAAGG c.(2161-2169)GGAAAGGGAfs p.G721fs EIF4G2_uc001mjb.2_Frame_Shift_Del_p.G515fs|EIF4G2_uc009ygf.2_Frame_Shift_Del_p.G515fs|EIF4G2_uc001mjd.2_Frame_Shift_Del_p.G683fs NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 721_723 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAACTCAGTCCCTTTCCTTCCAAAA 0.385 NA 10 46 --- --- --- --- NA NA NA NA PAN2 9924 broad.mit.edu 37 12 56717351 56717351 + Frame_Shift_Del DEL T T - rs138946880 TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:56717351delT uc001skx.2 - 15 2589 c.2216delA c.(2215-2217)GATfs p.D739fs PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Frame_Shift_Del_p.D738fs|PAN2_uc001sky.2_Frame_Shift_Del_p.D735fs NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 739 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 GACAAGAATATCTGGCAGATG 0.488 NA 26 49 --- --- --- --- NA NA NA NA HECTD1 25831 broad.mit.edu 37 14 31597034 31597034 + Frame_Shift_Del DEL G G - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr14:31597034delG uc001wrc.1 - 26 5427 c.4938delC c.(4936-4938)TCCfs p.S1646fs HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Frame_Shift_Del_p.S1114fs NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1646 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CACTCTCACTGGAAGTTGATG 0.353 NA 17 80 --- --- --- --- NA NA NA NA ZNF440 126070 broad.mit.edu 37 19 11943494 11943494 + Frame_Shift_Del DEL T T - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:11943494delT uc002msp.1 + 4 1659 c.1503delT c.(1501-1503)CCTfs p.P501fs NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCCAGTTCCTTTTGATATCA 0.413 NA 12 52 --- --- --- --- NA NA NA NA CLSTN2 64084 broad.mit.edu 37 3 140167413 140167413 + Frame_Shift_Del DEL C C - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:140167413delC uc003etn.2 + 6 1030 c.840delC c.(838-840)TTCfs p.F280fs CLSTN2_uc003etm.2_Frame_Shift_Del_p.F280fs NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 280 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TGCCCCTGTTCCCCAGCATCC 0.512 NA HNSCC(16;0.037) 72 112 --- --- --- --- NA NA NA NA PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:92146721delT uc003uly.2 - 5 1204 c.1108delA c.(1108-1110)ATTfs p.I370fs PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 NA 18 1074 --- --- --- --- NA NA NA NA LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:97820131_97820132delAG uc003upd.1 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)AGAfs p.R364fs NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 NA 9 1358 --- --- --- --- NA NA NA NA SSPO 23145 broad.mit.edu 37 7 149488643 149488643 + Frame_Shift_Del DEL C C - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:149488643delC uc010lpk.2 + 35 5094 c.5094delC c.(5092-5094)GGCfs p.G1698fs NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1698 TSP type-1 1. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGCCTGGGGCCCCTGGAGCC 0.721 NA 2 4 --- --- --- --- NA NA NA NA PTDSS1 9791 broad.mit.edu 37 8 97318687 97318687 + Frame_Shift_Del DEL A A - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr8:97318687delA uc003yht.1 + 8 1012 c.910delA c.(910-912)ACCfs p.T304fs PTDSS1_uc003yhu.1_Frame_Shift_Del_p.T158fs NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 304 Helical; (Potential). phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TGAGTTGAATACCTTCTTCTT 0.393 NA 67 92 --- --- --- --- NA NA NA NA