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 DBT 1629 broad.mit.edu 37 1 100706430 100706430 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr1:100706430C>T uc001dta.2 - 2 95 c.62G>A c.(61-63)CGC>CAC p.R21H DBT_uc010oug.1_5'UTR NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 21 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TTGAAAATAGCGAACACAAAT 0.313 ANP32E 81611 broad.mit.edu 37 1 150202934 150202934 + Missense_Mutation SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr1:150202934A>G uc001etw.2 - 3 669 c.299T>C c.(298-300)ATA>ACA p.I100T ANP32E_uc010pbu.1_Missense_Mutation_p.I52T|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Missense_Mutation_p.I100T|ANP32E_uc010pbw.1_Missense_Mutation_p.I100T NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 100 LRR 4. cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAGATCTTTTATTTTGTTTCC 0.363 HMCN1 83872 broad.mit.edu 37 1 186084452 186084452 + Silent SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr1:186084452C>T uc001grq.1 + 75 11696 c.11467C>T c.(11467-11469)CTG>TTG p.L3823L NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3823 Ig-like C2-type 37. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCAAACTACTCTGGCTTGTGA 0.398 SMYD2 56950 broad.mit.edu 37 1 214505455 214505455 + Nonsense_Mutation SNP C A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr1:214505455C>A uc010ptx.1 + 10 1065 c.1032C>A c.(1030-1032)TAC>TAA p.Y344* SMYD2_uc009xdj.2_3'UTR|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_Intron NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 344 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) ACATGATGTACCAGGCCATGG 0.517 OREG0012979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC39A12 221074 broad.mit.edu 37 10 18270258 18270258 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr10:18270258G>A uc001ipo.2 + 6 1215 c.942G>A c.(940-942)AGG>AGA p.R314R SLC39A12_uc001ipn.2_Silent_p.R314R|SLC39A12_uc001ipp.2_Silent_p.R314R|SLC39A12_uc010qck.1_Silent_p.R180R NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 314 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TCTCTGCTAGGCAGCTGGTGG 0.448 FAM196A 642938 broad.mit.edu 37 10 128973691 128973691 + Silent SNP C T T rs139302074 byFrequency TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr10:128973691C>T uc001lju.1 - 1 1010 c.969G>A c.(967-969)TCG>TCA p.S323S DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.S323S|FAM196A_uc001ljv.1_Silent_p.S323S|FAM196A_uc009yap.1_Silent_p.S323S NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 323 ovary(2) 2 TGTGAGTCTGCGACGGCTGCT 0.642 MRPL23 6150 broad.mit.edu 37 11 1973439 1973439 + Missense_Mutation SNP G C C TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr11:1973439G>C uc001lux.2 + 3 314 c.223G>C c.(223-225)GGC>CGC p.G75R NM_021134 NP_066957 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 75 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|ovary(1) 3 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) GGTGCAGCATGGTGAGTGCCC 0.602 ANO5 203859 broad.mit.edu 37 11 22239813 22239813 + Missense_Mutation SNP T G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr11:22239813T>G uc001mqi.2 + 4 477 c.160T>G c.(160-162)TTC>GTC p.F54V ANO5_uc001mqj.2_Missense_Mutation_p.F53V NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 54 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 ATTCAATTTGTTCCTGAGGCG 0.403 OR5D16 390144 broad.mit.edu 37 11 55606889 55606889 + Missense_Mutation SNP C A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr11:55606889C>A uc010rio.1 + 1 662 c.662C>A c.(661-663)GCA>GAA p.A221E NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) ACATCTTATGCATTCATCATT 0.468 OR5D16 390144 broad.mit.edu 37 11 55606937 55606937 + Missense_Mutation SNP G A A rs148616685 TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr11:55606937G>A uc010rio.1 + 1 710 c.710G>A c.(709-711)CGC>CAC p.R237H NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) AGTGGGCACCGCAAAGTCTTC 0.488 OR5M3 219482 broad.mit.edu 37 11 56237927 56237927 + Missense_Mutation SNP G A A rs147367874 byFrequency TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr11:56237927G>A uc010rjk.1 - 1 47 c.47C>T c.(46-48)ACG>ATG p.T16M NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TCGACGGCTCGTTAGCCCCAA 0.383 ANO1 55107 broad.mit.edu 37 11 69949227 69949227 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr11:69949227G>A uc001opj.2 + 3 802 c.497G>A c.(496-498)TGC>TAC p.C166Y ANO1_uc001opk.1_Missense_Mutation_p.C138Y|ANO1_uc001opl.1_RNA NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 166 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 AACGTGCTGTGCAGAGAGGCC 0.532 PAAF1 80227 broad.mit.edu 37 11 73627614 73627614 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr11:73627614G>A uc001ouk.1 + 9 878 c.844G>A c.(844-846)GCT>ACT p.A282T PAAF1_uc001oul.1_Missense_Mutation_p.A265T|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.A265T|PAAF1_uc001oun.1_5'Flank NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 282 WD 4. interspecies interaction between organisms proteasome complex protein binding ovary(1)|skin(1) 2 Breast(11;7.42e-05) TGGCTCAGACGCTTTCAACTG 0.423 XRRA1 143570 broad.mit.edu 37 11 74559419 74559419 + Missense_Mutation SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr11:74559419A>G uc009yub.2 - 15 1777 c.1445T>C c.(1444-1446)ATG>ACG p.M482T XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.M105T|XRRA1_uc001ovo.2_Missense_Mutation_p.M90T|XRRA1_uc001ovq.3_Missense_Mutation_p.M395T|XRRA1_uc001ovp.3_Missense_Mutation_p.M207T|XRRA1_uc001ovr.2_Missense_Mutation_p.M105T|XRRA1_uc001ovs.1_Missense_Mutation_p.M84T NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 482 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 TGGCTCTAGCATATCCTTTGA 0.552 ADAMTS8 11095 broad.mit.edu 37 11 130281492 130281492 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr11:130281492C>T uc001qgg.3 - 6 1928 c.1570G>A c.(1570-1572)GTG>ATG p.V524M ADAMTS8_uc001qgf.2_Missense_Mutation_p.V5M NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 524 Disintegrin. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CCATCTGCCACGGGCTGCAAC 0.577 KRT4 3851 broad.mit.edu 37 12 53208029 53208029 + Silent SNP G A A rs143824965 by1000genomes TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr12:53208029G>A uc001saz.2 - 1 307 c.36C>T c.(34-36)AAC>AAT p.N12N NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 Error:Variant_position_missing_in_B4DRS2_after_alignment keratin filament structural molecule activity ovary(4)|skin(2) 6 TCCCGCACCCGTTGAGCATGT 0.542 MYO1A 4640 broad.mit.edu 37 12 57432332 57432332 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr12:57432332G>A uc001smw.3 - 17 1867 c.1624C>T c.(1624-1626)CTC>TTC p.L542F MYO1A_uc010sqz.1_Missense_Mutation_p.L380F|MYO1A_uc009zpd.2_Missense_Mutation_p.L542F NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 542 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 GACCGAAGGAGGGGGTGCTGG 0.537 C12orf66 144577 broad.mit.edu 37 12 64588399 64588399 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr12:64588399G>A uc001srw.3 - 3 620 c.561C>T c.(559-561)TTC>TTT p.F187F C12orf66_uc009zql.2_Silent_p.F134F NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 187 ovary(1) 1 CTTCCAGCTGGAAACTGCTTT 0.478 KSR2 283455 broad.mit.edu 37 12 118016952 118016952 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr12:118016952G>A uc001two.2 - 7 1265 c.1210C>T c.(1210-1212)CTT>TTT p.L404F NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 433 Phorbol-ester/DAG-type. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity p.L465F(1) lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGCCAAAAAGCATCCCTTTC 0.478 CCDC60 160777 broad.mit.edu 37 12 119866567 119866567 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr12:119866567G>A uc001txe.2 + 2 635 c.170G>A c.(169-171)CGC>CAC p.R57H uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 57 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) ATACGAAGCCGGTGAGTGAGC 0.502 GPR133 283383 broad.mit.edu 37 12 131487816 131487816 + Missense_Mutation SNP G T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr12:131487816G>T uc001uit.3 + 10 1672 c.1113G>T c.(1111-1113)CAG>CAT p.Q371H GPR133_uc010tbm.1_Missense_Mutation_p.Q403H NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 371 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GCACGCCCCAGGTCACCGTGG 0.617 DCLK1 9201 broad.mit.edu 37 13 36428681 36428681 + Silent SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr13:36428681C>T uc001uvf.2 - 6 1223 c.990G>A c.(988-990)TCG>TCA p.S330S DCLK1_uc001uve.3_Silent_p.S23S|DCLK1_uc010teh.1_Silent_p.S23S|DCLK1_uc010abk.2_Silent_p.S23S|DCLK1_uc001uvh.3_RNA NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 330 Pro/Ser-rich. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) ATGGGCTTGGCGACTTGCCTG 0.493 GRK1 6011 broad.mit.edu 37 13 114321752 114321752 + Silent SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr13:114321752C>T uc010tkf.1 + 1 159 c.51C>T c.(49-51)GCC>GCT p.A17A NM_002929 NP_002920 Q15835 RK_HUMAN rhodopsin kinase precursor 17 N-terminal. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) CCTTCATCGCCGCCCGAGGCA 0.647 SCFD1 23256 broad.mit.edu 37 14 31139520 31139520 + Missense_Mutation SNP C G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr14:31139520C>G uc001wqm.1 + 11 938 c.914C>G c.(913-915)GCT>GGT p.A305G SCFD1_uc001wqn.1_Missense_Mutation_p.A238G|SCFD1_uc010tpg.1_Missense_Mutation_p.A246G|SCFD1_uc010tph.1_Missense_Mutation_p.A120G|SCFD1_uc010amf.1_Missense_Mutation_p.A120G|SCFD1_uc010tpi.1_Missense_Mutation_p.A213G|SCFD1_uc010amd.1_Missense_Mutation_p.A137G|SCFD1_uc010ame.1_Missense_Mutation_p.A238G NM_016106 NP_057190 Q8WVM8 SCFD1_HUMAN vesicle transport-related protein isoform a 305 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding 0 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) AACTCTCCAGCTGGTGCTAGA 0.328 FANCM 57697 broad.mit.edu 37 14 45665510 45665510 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr14:45665510G>A uc001wwd.3 + 21 5575 c.5476G>A c.(5476-5478)GAA>AAA p.E1826K FANCM_uc010anf.2_Missense_Mutation_p.E1800K|FANCM_uc001wwe.3_Missense_Mutation_p.E1362K|FANCM_uc010ang.2_Missense_Mutation_p.E1075K NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1826 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 AGGTGGTCATGAAATCACTTC 0.418 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia ESR2 2100 broad.mit.edu 37 14 64727172 64727172 + Missense_Mutation SNP A T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr14:64727172A>T uc001xha.1 - 5 1415 c.947T>A c.(946-948)ATT>AAT p.I316N ESR2_uc001xgu.2_Missense_Mutation_p.I316N|ESR2_uc001xgv.2_Missense_Mutation_p.I316N|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.I316N|ESR2_uc001xgy.1_Missense_Mutation_p.I316N|ESR2_uc001xgz.1_Missense_Mutation_p.I316N|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.I316N|ESR2_uc010aqd.1_RNA NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 316 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CCTACCGGGAATCTTCTTGGC 0.398 SERPINA6 866 broad.mit.edu 37 14 94780400 94780400 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr14:94780400C>T uc001ycv.2 - 2 690 c.586G>A c.(586-588)GTC>ATC p.V196I SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 196 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TTGACCAGGACGAGGATGGCT 0.502 AHNAK2 113146 broad.mit.edu 37 14 105410846 105410846 + Missense_Mutation SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr14:105410846A>G uc010axc.1 - 7 11062 c.10942T>C c.(10942-10944)TTC>CTC p.F3648L AHNAK2_uc001ypx.2_Missense_Mutation_p.F3548L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3648 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GATACCCTGAATGACGGCATC 0.592 AHNAK2 113146 broad.mit.edu 37 14 105417866 105417866 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr14:105417866C>T uc010axc.1 - 7 4042 c.3922G>A c.(3922-3924)GCA>ACA p.A1308T AHNAK2_uc001ypx.2_Missense_Mutation_p.A1208T NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1308 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCAGCTGTGCGCCATCCAAC 0.597 DUOX2 50506 broad.mit.edu 37 15 45392270 45392270 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr15:45392270G>A uc010bea.2 - 24 3365 c.3162C>T c.(3160-3162)GGC>GGT p.G1054G DUOX2_uc001zun.2_Silent_p.G1054G NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1054 Interaction with TXNDC11 (By similarity).|Helical; (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTGCAAACACGCCAACACAGA 0.562 FBXO22 26263 broad.mit.edu 37 15 76205599 76205599 + Frame_Shift_Del DEL T - - TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr15:76205599delT uc002bbk.2 + 3 440 c.335delT c.(334-336)ATTfs p.I112fs FBXO22_uc002bbj.1_Frame_Shift_Del_p.I112fs|FBXO22_uc002bbl.2_Frame_Shift_Del_p.I8fs NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 112 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 GAAACTTTCATTAGTCTGGAA 0.358 SYNM 23336 broad.mit.edu 37 15 99670079 99670079 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr15:99670079C>T uc002bup.2 + 6 1634 c.1514C>T c.(1513-1515)ACG>ATG p.T505M SYNM_uc002buo.2_Missense_Mutation_p.T505M|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 505 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 GTGAAAGCCACGAGGGAGCAA 0.488 LRRK1 79705 broad.mit.edu 37 15 101586198 101586198 + Silent SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr15:101586198C>T uc002bwr.2 + 21 3295 c.2976C>T c.(2974-2976)CCC>CCT p.P992P LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 992 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACCTCCTGCCCCATCTCCTTC 0.592 SPIRE2 84501 broad.mit.edu 37 16 89916966 89916966 + Frame_Shift_Del DEL C - - TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr16:89916966delC uc002foz.1 + 3 595 c.543delC c.(541-543)GACfs p.D181fs SPIRE2_uc010civ.1_Frame_Shift_Del_p.D96fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.D181fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.D133fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.D50fs NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 181 KIND. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) GGCTGACCGACCCCCGGGGCG 0.751 OR3A2 4995 broad.mit.edu 37 17 3181738 3181738 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr17:3181738G>A uc002fvg.2 - 1 531 c.492C>T c.(490-492)AAC>AAT p.N164N NM_002551 NP_002542 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, 164 Helical; Name=4; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 GGGTCAGTGCGTTGGTGAAGG 0.582 DNAH2 146754 broad.mit.edu 37 17 7736507 7736507 + Missense_Mutation SNP G A A rs145226741 TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr17:7736507G>A uc002giu.1 + 84 13111 c.13097G>A c.(13096-13098)CGG>CAG p.R4366Q NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4366 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) ATCCACTTCCGGCCTGCAGAG 0.622 MLLT6 4302 broad.mit.edu 37 17 36873166 36873166 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr17:36873166C>T uc002hqi.3 + 10 1596 c.1583C>T c.(1582-1584)TCC>TTC p.S528F MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 528 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) GGAGGTCTGTCCTCCCGAACC 0.637 T MLL AL OR4D2 124538 broad.mit.edu 37 17 56247707 56247707 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr17:56247707G>A uc010wnp.1 + 1 691 c.691G>A c.(691-693)GAG>AAG p.E231K NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 ACATCCAGGGGAGGCAAGAAG 0.537 C18orf45 85019 broad.mit.edu 37 18 20979531 20979531 + Missense_Mutation SNP A T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr18:20979531A>T uc002kuf.2 - 4 387 c.278T>A c.(277-279)CTG>CAG p.L93Q C18orf45_uc010xaq.1_Intron|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA NM_032933 NP_116322 Q24JQ0 CR045_HUMAN hypothetical protein LOC85019 93 Helical; (Potential). integral to membrane 0 all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127) AATACTTACCAGTCTGGACAA 0.443 LGALS13 29124 broad.mit.edu 37 19 40095888 40095888 + Nonsense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr19:40095888C>T uc002omb.2 + 3 203 c.163C>T c.(163-165)CGA>TGA p.R55* NM_013268 NP_037400 Q9UHV8 PP13_HUMAN galectin-13 55 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding ovary(1) 1 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CTTCCGTTTCCGAGTGCACTT 0.498 CEACAM7 1087 broad.mit.edu 37 19 42187746 42187746 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr19:42187746G>A uc002ori.1 - 3 678 c.676C>T c.(676-678)CGC>TGC p.R226C CEACAM7_uc010ehx.2_Missense_Mutation_p.R226C|CEACAM7_uc010ehy.1_Intron NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 226 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) GGGTCACTGCGGCTGGCACCC 0.552 BCAM 4059 broad.mit.edu 37 19 45322967 45322967 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr19:45322967C>T uc002ozu.2 + 13 1791 c.1747C>T c.(1747-1749)CGG>TGG p.R583W BCAM_uc002ozt.1_Missense_Mutation_p.R583W NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 583 Cytoplasmic (Potential). cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CCGCCAGCGGCGGGAGAAGGG 0.507 FPR2 2358 broad.mit.edu 37 19 52272072 52272072 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr19:52272072G>A uc002pxr.2 + 2 206 c.161G>A c.(160-162)CGG>CAG p.R54Q FPR2_uc002pxs.3_Missense_Mutation_p.R54Q|FPR2_uc010epf.2_Missense_Mutation_p.R54Q NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 54 Cytoplasmic (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 GCTGGATTCCGGATGACACGC 0.562 CCDC88A 55704 broad.mit.edu 37 2 55561635 55561635 + Missense_Mutation SNP G C C TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr2:55561635G>C uc002ryv.2 - 15 3164 c.2322C>G c.(2320-2322)AAC>AAG p.N774K CCDC88A_uc010yoz.1_Missense_Mutation_p.N774K|CCDC88A_uc010ypa.1_Missense_Mutation_p.N774K|CCDC88A_uc010ypb.1_Missense_Mutation_p.N676K|CCDC88A_uc002ryu.2_Missense_Mutation_p.N57K|CCDC88A_uc002ryw.2_Missense_Mutation_p.N57K NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 774 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TTTTATTGCTGTTCTCTAAAG 0.338 RMND5A 64795 broad.mit.edu 37 2 86992995 86992995 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr2:86992995G>A uc010ytm.1 + 6 1079 c.702G>A c.(700-702)TTG>TTA p.L234L RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Silent_p.L234L NM_022780 NP_073617 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog 234 ovary(1)|skin(1) 2 TTCAGGTTTTGATGGGAAGCC 0.428 DDX18 8886 broad.mit.edu 37 2 118587005 118587005 + Silent SNP G T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr2:118587005G>T uc002tlh.1 + 13 1932 c.1833G>T c.(1831-1833)CTG>CTT p.L611L NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 611 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 AGGTTGCTCTGTCATTTGGTT 0.403 TTN 7273 broad.mit.edu 37 2 179556814 179556814 + Missense_Mutation SNP G T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr2:179556814G>T uc010zfg.1 - 118 28183 c.27959C>A c.(27958-27960)CCC>CAC p.P9320H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5981H|TTN_uc010fre.1_Missense_Mutation_p.P431H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10247 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) GGGTTTCTTGGGAACCTCAGG 0.433 TTN 7273 broad.mit.edu 37 2 179569962 179569962 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr2:179569962C>T uc010zfg.1 - 100 26035 c.25811G>A c.(25810-25812)CGA>CAA p.R8604Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5265Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9531 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) AAGAAGACCTCGGAAGTCAGT 0.383 SPTLC3 55304 broad.mit.edu 37 20 13029756 13029756 + Missense_Mutation SNP C A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr20:13029756C>A uc002wod.1 + 2 570 c.281C>A c.(280-282)GCT>GAT p.A94D SPTLC3_uc002woc.2_Missense_Mutation_p.A94D NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 94 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) TGCAACGCAGCTGTGGAAAGA 0.423 PLCG1 5335 broad.mit.edu 37 20 39788360 39788360 + Missense_Mutation SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr20:39788360A>G uc002xjp.1 + 2 453 c.332A>G c.(331-333)TAT>TGT p.Y111C PLCG1_uc002xjo.1_Missense_Mutation_p.Y111C NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 111 PH 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GTCATTCTCTATGGAATGGAA 0.537 RRP1B 23076 broad.mit.edu 37 21 45107441 45107441 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr21:45107441C>T uc002zdk.2 + 13 1300 c.1186C>T c.(1186-1188)CTT>TTT p.L396F RRP1B_uc002zdl.2_5'UTR NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 396 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) TGAAAGCAGTCTTCAAAAGAG 0.532 CABIN1 23523 broad.mit.edu 37 22 24487684 24487684 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr22:24487684G>A uc002zzi.1 + 24 3800 c.3673G>A c.(3673-3675)GTT>ATT p.V1225I CABIN1_uc002zzj.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzl.1_Missense_Mutation_p.V1225I NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1225 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GCCACCCACCGTTTACTTGCT 0.612 FGD5 152273 broad.mit.edu 37 3 14862435 14862435 + Silent SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr3:14862435C>T uc003bzc.2 + 1 1967 c.1857C>T c.(1855-1857)TTC>TTT p.F619F FGD5_uc011avk.1_Silent_p.F619F NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 619 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 CACCTCCTTTCGACCTGGCCT 0.557 GCET2 257144 broad.mit.edu 37 3 111842437 111842437 + Silent SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr3:111842437A>G uc003dys.1 - 6 552 c.402T>C c.(400-402)CCT>CCC p.P134P C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Silent_p.P68P NM_152785 NP_689998 Q8N6F7 GCET2_HUMAN germinal center expressed transcript 2 isoform 134 mitochondrion 0 GGTCTGTAGAAGGCATATGTA 0.483 ABCF3 55324 broad.mit.edu 37 3 183907351 183907351 + Missense_Mutation SNP C A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr3:183907351C>A uc003fmz.2 + 13 1253 c.1120C>A c.(1120-1122)CCC>ACC p.P374T ABCF3_uc003fna.2_Missense_Mutation_p.P368T|ABCF3_uc003fnb.2_Missense_Mutation_p.P55T NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 374 ABC transporter 1. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCAGACGTGGCCCTCCACCAT 0.617 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G C C TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr3:195505836G>C uc011bto.1 - 3 12691 c.12231C>G c.(12229-12231)CAC>CAG p.H4077Q MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597 EVC2 132884 broad.mit.edu 37 4 5630350 5630350 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr4:5630350G>A uc003gij.2 - 12 1876 c.1822C>T c.(1822-1824)CGT>TGT p.R608C EVC2_uc011bwb.1_Missense_Mutation_p.R48C|EVC2_uc003gik.2_Missense_Mutation_p.R528C NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 608 integral to membrane large_intestine(3)|ovary(2) 5 CCCTGCACACGGGTCTCTGAT 0.498 SLC2A9 56606 broad.mit.edu 37 4 9889261 9889261 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr4:9889261G>A uc003gmc.2 - 10 1282 c.1221C>T c.(1219-1221)CAC>CAT p.H407H SLC2A9_uc003gmd.2_Silent_p.H378H NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 407 Extracellular (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 CCCAGGGGGCGTGGTCCTGGG 0.393 PCDH7 5099 broad.mit.edu 37 4 30724267 30724267 + Missense_Mutation SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr4:30724267A>G uc003gsk.1 + 1 2231 c.1223A>G c.(1222-1224)GAG>GGG p.E408G PCDH7_uc011bxw.1_Missense_Mutation_p.E361G|PCDH7_uc011bxx.1_Missense_Mutation_p.E408G NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 408 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 ATCAAAGACGAGAACGACAAC 0.642 CXCL6 6372 broad.mit.edu 37 4 74702791 74702791 + Missense_Mutation SNP C A A rs149811429 TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr4:74702791C>A uc003hhf.2 + 2 415 c.220C>A c.(220-222)CAG>AAG p.Q74K IL8_uc011cbh.1_Intron NM_002993 NP_002984 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 (granulocyte 74 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CGCAGGCCCGCAGTGCTCCAA 0.542 NPNT 255743 broad.mit.edu 37 4 106863540 106863540 + Missense_Mutation SNP C A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr4:106863540C>A uc003hya.2 + 8 1045 c.840C>A c.(838-840)GAC>GAA p.D280E NPNT_uc011cfc.1_Missense_Mutation_p.D297E|NPNT_uc011cfd.1_Missense_Mutation_p.D310E|NPNT_uc011cfe.1_Missense_Mutation_p.D310E|NPNT_uc010ilt.1_Missense_Mutation_p.D280E|NPNT_uc011cff.1_Missense_Mutation_p.D280E|NPNT_uc010ilu.1_Missense_Mutation_p.D176E NM_001033047 NP_001028219 Q6UXI9 NPNT_HUMAN nephronectin precursor 280 cell differentiation membrane calcium ion binding skin(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TAAAGGGTGACACAGGAAATA 0.393 TLL1 7092 broad.mit.edu 37 4 166960565 166960565 + Silent SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr4:166960565C>T uc003irh.1 + 10 1880 c.1233C>T c.(1231-1233)GAC>GAT p.D411D TLL1_uc011cjn.1_Silent_p.D411D|TLL1_uc011cjo.1_Silent_p.D235D NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 411 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AAGTAAGAGACGGGTACTGGA 0.388 ODZ3 55714 broad.mit.edu 37 4 183594220 183594220 + Nonsense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr4:183594220C>T uc003ivd.1 + 6 1211 c.1174C>T c.(1174-1176)CGA>TGA p.R392* NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 392 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TGATATTGGCCGAAGAGCAAT 0.388 ODZ3 55714 broad.mit.edu 37 4 183594343 183594343 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr4:183594343C>T uc003ivd.1 + 6 1334 c.1297C>T c.(1297-1299)CGG>TGG p.R433W NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 433 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGTATATGGCCGGAAAGGCTT 0.388 FAT1 2195 broad.mit.edu 37 4 187557880 187557880 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr4:187557880G>A uc003izf.2 - 5 4019 c.3831C>T c.(3829-3831)ACC>ACT p.T1277T NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1277 Extracellular (Potential).|Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CATCCTTGTCGGTGGCTATGA 0.493 HNSCC(5;0.00058) TTC37 9652 broad.mit.edu 37 5 94856458 94856458 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr5:94856458G>A uc003klb.2 - 20 2346 c.2076C>T c.(2074-2076)GCC>GCT p.A692A NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 692 TPR 12. binding ovary(3)|pancreas(1) 4 TGTAGTCTACGGCTTTTCCAT 0.284 DMXL1 1657 broad.mit.edu 37 5 118503534 118503534 + Missense_Mutation SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr5:118503534A>G uc003ksd.2 + 23 5554 c.5373A>G c.(5371-5373)ATA>ATG p.I1791M DMXL1_uc010jcl.1_Missense_Mutation_p.I1791M NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1791 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AAACATTAATAAAGCAACCTA 0.343 ABLIM3 22885 broad.mit.edu 37 5 148620291 148620291 + Silent SNP C G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr5:148620291C>G uc003lpy.2 + 14 1508 c.1257C>G c.(1255-1257)TCC>TCG p.S419S ABLIM3_uc003lpz.1_Silent_p.S419S|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Intron NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 419 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTGAGGTCCTCCACTCCAA 0.572 SLIT3 6586 broad.mit.edu 37 5 168112727 168112727 + Missense_Mutation SNP C T T rs150873620 by1000genomes TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr5:168112727C>T uc003mab.2 - 31 3940 c.3520G>A c.(3520-3522)GCC>ACC p.A1174T SLIT3_uc010jjg.2_Missense_Mutation_p.A1181T NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1174 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.A1174T(1) ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGGACCTTGGCGGAGGCCAGT 0.627 STK10 6793 broad.mit.edu 37 5 171479966 171479966 + Silent SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr5:171479966C>T uc003mbo.1 - 18 3033 c.2733G>A c.(2731-2733)AAG>AAA p.K911K NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 911 Potential. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCCGCCATTCCTTCAGGTTCT 0.567 LMAN2 10960 broad.mit.edu 37 5 176765541 176765541 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr5:176765541G>A uc003mge.2 - 3 618 c.381C>T c.(379-381)AAC>AAT p.N127N LMAN2_uc003mgd.2_Silent_p.N127N NM_006816 NP_006807 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 precursor 127 Lumenal (Potential).|L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCCATGGAGGTTCTTCTTCC 0.632 CANX 821 broad.mit.edu 37 5 179132740 179132740 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr5:179132740G>A uc003mkk.2 + 2 235 c.58G>A c.(58-60)GCT>ACT p.A20T CANX_uc011dgp.1_Missense_Mutation_p.A55T|CANX_uc010jlb.1_Missense_Mutation_p.A20T|CANX_uc003mkl.2_Missense_Mutation_p.A20T|CANX_uc011dgq.1_5'UTR NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 20 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) tattgttgaggctcatgatgg 0.104 ABCF1 23 broad.mit.edu 37 6 30552069 30552069 + Frame_Shift_Del DEL G - - TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr6:30552069delG uc003nql.2 + 13 1298 c.1203delG c.(1201-1203)CTGfs p.L401fs ABCF1_uc003nqk.2_Frame_Shift_Del_p.L402fs|ABCF1_uc003nqm.2_Frame_Shift_Del_p.L363fs|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 401 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 AGGGACAGCTGGAACAAGGGG 0.592 LRFN2 57497 broad.mit.edu 37 6 40359856 40359856 + Silent SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr6:40359856C>T uc003oph.1 - 3 2661 c.2196G>A c.(2194-2196)GCG>GCA p.A732A NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 732 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CTCCCGCCGCCGCAGCAGCAA 0.682 UNC5CL 222643 broad.mit.edu 37 6 40996138 40996138 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr6:40996138C>T uc003opi.2 - 9 1620 c.1531G>A c.(1531-1533)GGC>AGC p.G511S NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN unc-5 homolog C-like 511 Cytoplasmic (Potential). signal transduction cytoplasm|integral to membrane ovary(2) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCTCCAGGCCCTGGTTATCC 0.687 OREG0017423 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SMPD2 6610 broad.mit.edu 37 6 109764877 109764877 + Silent SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr6:109764877A>G uc003pti.2 + 10 1435 c.1041A>G c.(1039-1041)GGA>GGG p.G347G PPIL6_uc003pth.1_5'Flank NM_003080 NP_003071 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral 347 Helical; (Potential). induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity 0 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) TGGCGGCTGGAGGAGGGGCCG 0.632 UTRN 7402 broad.mit.edu 37 6 144809879 144809879 + Missense_Mutation SNP T A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr6:144809879T>A uc003qkt.2 + 29 4135 c.4043T>A c.(4042-4044)GTC>GAC p.V1348D NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1348 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATGCTTCAAGTCTTGCAAGAG 0.483 SLC29A4 222962 broad.mit.edu 37 7 5330480 5330480 + Missense_Mutation SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr7:5330480A>G uc003sod.2 + 3 448 c.287A>G c.(286-288)CAT>CGT p.H96R SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.H96R|SLC29A4_uc003soe.2_Missense_Mutation_p.H96R NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 96 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GACTACCTGCATCACAAGTAC 0.627 STK31 56164 broad.mit.edu 37 7 23830449 23830449 + Nonsense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr7:23830449C>T uc003sws.3 + 22 2711 c.2644C>T c.(2644-2646)CGA>TGA p.R882* STK31_uc003swt.3_Nonsense_Mutation_p.R859*|STK31_uc011jze.1_Nonsense_Mutation_p.R882*|STK31_uc010kuq.2_Nonsense_Mutation_p.R859*|STK31_uc003swv.1_Nonsense_Mutation_p.R48* NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 882 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 GCAGAGTCAGCGAGCCTCGGT 0.378 EGFR 1956 broad.mit.edu 37 7 55233035 55233035 + Silent SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr7:55233035C>T uc003tqk.2 + 15 2031 c.1785C>T c.(1783-1785)TGC>TGT p.C595C EGFR_uc003tqi.2_Silent_p.C595C|EGFR_uc003tqj.2_Silent_p.C595C|EGFR_uc010kzg.1_Silent_p.C550C|EGFR_uc011kco.1_Silent_p.C542C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 595 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCAAGACCTGCCCGGCAGGAG 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) LOC407835 407835 broad.mit.edu 37 7 128767702 128767702 + Frame_Shift_Del DEL T - - TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr7:128767702delT uc003voo.2 + 1 1378 c.1131delT c.(1129-1131)GATfs p.D377fs NR_002144 SubName: Full=cDNA FLJ35806 fis, clone TESTI2005987, highly similar to Dual specificity mitogen-activated protein kinase kinase 2 (EC 2.7.12.2); SubName: Full=Mitogen-activated protein kinase kinase 2, isoform CRA_d; 0 AAGAAGCGGATTTTGCCTGCT 0.582 MCM4 4173 broad.mit.edu 37 8 48889249 48889249 + Missense_Mutation SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr8:48889249A>G uc003xqk.1 + 17 2598 c.2503A>G c.(2503-2505)ATT>GTT p.I835V MCM4_uc003xql.1_Missense_Mutation_p.I835V|MCM4_uc011ldi.1_Missense_Mutation_p.I822V NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 835 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CCCACAGGCAATTACTAAAGA 0.423 TTC39B 158219 broad.mit.edu 37 9 15185345 15185345 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr9:15185345G>A uc003zlr.1 - 16 1470 c.1349C>T c.(1348-1350)GCT>GTT p.A450V TTC39B_uc003zlq.1_Missense_Mutation_p.A419V|TTC39B_uc011lmp.1_Missense_Mutation_p.A351V|TTC39B_uc010mie.1_Missense_Mutation_p.A448V|TTC39B_uc011lmq.1_Missense_Mutation_p.A437V|TTC39B_uc011lmr.1_Missense_Mutation_p.A381V|TTC39B_uc003zlp.1_Missense_Mutation_p.A33V NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 450 binding ovary(1) 1 CTTCCTCACAGCAAACTTCTC 0.507 FLJ43859 389761 broad.mit.edu 37 9 84547688 84547688 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr9:84547688G>A uc004amh.2 + 4 2698 c.2612G>A c.(2611-2613)CGA>CAA p.R871Q uc004ami.1_Intron|uc004amj.1_5'Flank NM_001145197 NP_001138669 Q6ZUB0 YI020_HUMAN hypothetical protein LOC389761 871 integral to membrane 0 ATTAAACATCGAAATTTGGCA 0.458 C9orf125 84302 broad.mit.edu 37 9 104238682 104238682 + Silent SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr9:104238682G>A uc004bbm.2 - 2 1015 c.693C>T c.(691-693)CGC>CGT p.R231R uc004bbl.1_5'Flank NM_032342 NP_115718 Q9BRR3 CI125_HUMAN hypothetical protein LOC84302 231 integral to membrane 0 Acute lymphoblastic leukemia(62;0.0527) GCTCAGAGAAGCGAGCCCGCA 0.542 SMC2 10592 broad.mit.edu 37 9 106885401 106885401 + Silent SNP A G G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr9:106885401A>G uc004bbv.2 + 17 2433 c.2145A>G c.(2143-2145)CTA>CTG p.L715L SMC2_uc004bbu.1_Silent_p.L715L|SMC2_uc004bbw.2_Silent_p.L715L|SMC2_uc011lvl.1_Silent_p.L715L|SMC2_uc004bbx.2_Silent_p.L715L NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 715 Potential. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 ATCGCCAACTAAAACAGCAGT 0.348 COL27A1 85301 broad.mit.edu 37 9 117071558 117071558 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr9:117071558C>T uc011lxl.1 + 60 5236 c.5236C>T c.(5236-5238)CGG>TGG p.R1746W COL27A1_uc004bii.2_RNA|COL27A1_uc011lxn.1_Missense_Mutation_p.R61W NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1746 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 TGCCATCAGCCGGGTCCAGAT 0.607 ATP6V1G1 9550 broad.mit.edu 37 9 117359986 117359986 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr9:117359986G>A uc004bjc.2 + 3 445 c.320G>A c.(319-321)CGG>CAG p.R107Q NM_004888 NP_004879 O75348 VATG1_HUMAN vacuolar H+ ATPase G1 107 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances 0 TGTGACATTCGGCCAGAAATC 0.478 NELF 26012 broad.mit.edu 37 9 140351900 140351900 + Missense_Mutation SNP C T T TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chr9:140351900C>T uc004cna.2 - 3 819 c.587G>A c.(586-588)CGC>CAC p.R196H C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_5'Flank|NELF_uc010nci.2_5'Flank|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.R196H|NELF_uc004cmz.2_Missense_Mutation_p.R196H|NELF_uc004cnc.2_Missense_Mutation_p.R196H|NELF_uc004cnb.2_Missense_Mutation_p.R196H NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 196 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) CAGCTTCTTGCGGCGACCGGA 0.652 SHOX 6473 broad.mit.edu 37 X 591909 591909 + Missense_Mutation SNP G A A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chrX:591909G>A uc004cph.1 + 2 968 c.277G>A c.(277-279)GGG>AGG p.G93R SHOX_uc004cpi.2_Missense_Mutation_p.G93R NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 93 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 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) AGTGGCAGAAGGTAAGTTCCT 0.647 FOXR2 139628 broad.mit.edu 37 X 55650926 55650926 + Missense_Mutation SNP A C C TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 Somatic Phase_I Capture Illumina GAIIx 33f8304e-11c3-4a9d-ad21-ffea555309dc 7a88c445-24c5-4dfd-9064-de5dc2a47b41 g.chrX:55650926A>C uc004duo.2 + 1 1094 c.782A>C c.(781-783)GAT>GCT p.D261A NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 261 Fork-head. embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(2)|central_nervous_system(1) 3 AAGGATGAAGATAATGCAAGA 0.517