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 IPO7 10527 broad.mit.edu 37 11 9466668 9466668 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr11:9466668G>C uc001mho.2 + 25 3186 c.3044G>C c.(3043-3045)GGA>GCA p.G1015A NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 1015 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GAGAAGCATGGAGGATACAAA 0.378 NA 11 135 0 0 0 0 CKAP5 9793 broad.mit.edu 37 11 46810308 46810308 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr11:46810308C>T uc001ndi.1 - 16 2001 c.1891G>A c.(1891-1893)GAC>AAC p.D631N CKAP5_uc009ylg.1_Missense_Mutation_p.D517N|CKAP5_uc001ndj.1_Missense_Mutation_p.D631N NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 631 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TCAGTTCGGTCCATTAGCTCA 0.308 NA 41 75 0 0 0 0 USP35 57558 broad.mit.edu 37 11 77921098 77921098 + Missense_Mutation SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr11:77921098G>A uc009yva.1 + 10 2443 c.2197G>A c.(2197-2199)GAA>AAA p.E733K USP35_uc001oze.2_Missense_Mutation_p.E489K|USP35_uc001ozc.2_Missense_Mutation_p.E301K|USP35_uc010rsp.1_Missense_Mutation_p.E165K|USP35_uc001ozd.2_Missense_Mutation_p.E344K|USP35_uc001ozf.2_Missense_Mutation_p.E464K NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 733 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) ggaaaaggaagaagaCAGCCT 0.333 NA 30 60 0 0 0 0 GALNT6 11226 broad.mit.edu 37 12 51751183 51751183 + Missense_Mutation SNP C C T rs142431103 TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr12:51751183C>T uc001ryk.2 - 9 1777 c.1552G>A c.(1552-1554)GGG>AGG p.G518R GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.G518R|GALNT6_uc001ryj.1_Missense_Mutation_p.G83R NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 518 Ricin B-type lectin.|Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 GGCTTCCCCCCGCGGTTGTTC 0.612 NA 21 57 0 0 0 0 STAB2 55576 broad.mit.edu 37 12 104107482 104107482 + Silent SNP C C A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr12:104107482C>A uc001tjw.2 + 42 4659 c.4473C>A c.(4471-4473)ACC>ACA p.T1491T STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1491 Extracellular (Potential).|EGF-like 12. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GTAAGAGAACCACCCCAGGAA 0.542 NA 100 273 8.45e-40 9.6e-40 1 0 CIT 11113 broad.mit.edu 37 12 120148383 120148383 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr12:120148383G>T uc001txi.1 - 37 4824 c.4771C>A c.(4771-4773)CGT>AGT p.R1591S CIT_uc001txh.1_Missense_Mutation_p.R1110S|CIT_uc001txj.1_Missense_Mutation_p.R1633S NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1591 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ATGTCTAGACGGTCATCACCT 0.483 NA 46 118 1.23e-26 1.36e-26 1 0 FNDC3A 22862 broad.mit.edu 37 13 49772367 49772367 + Missense_Mutation SNP A A G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr13:49772367A>G uc001vcm.2 + 22 3045 c.2740A>G c.(2740-2742)ATT>GTT p.I914V FNDC3A_uc001vcn.2_Missense_Mutation_p.I914V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.I858V NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 914 Fibronectin type-III 7. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TACAAGCTATATTATCAACAA 0.363 NA 58 102 0 0 0 0 DLST 1743 broad.mit.edu 37 14 75361079 75361079 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr14:75361079C>T uc001xqv.2 + 10 800 c.737C>T c.(736-738)GCA>GTA p.A246V DLST_uc001xqu.2_Missense_Mutation_p.A158V|DLST_uc001xqt.2_Missense_Mutation_p.A162V|DLST_uc010tuw.1_Missense_Mutation_p.A160V|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.A246V NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 246 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) AATACATGTGCAATGCTGACA 0.468 NA 79 65 0 0 0 0 APBA2 321 broad.mit.edu 37 15 29346705 29346705 + Silent SNP C C T rs111870710 byFrequency TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr15:29346705C>T uc001zck.2 + 3 825 c.618C>T c.(616-618)GGC>GGT p.G206G APBA2_uc010azj.2_Silent_p.G206G|APBA2_uc010uat.1_Silent_p.G206G|APBA2_uc001zcl.2_Silent_p.G206G|APBA2_uc010uas.1_Silent_p.G206G NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 206 STXBP1-binding. DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGAACACCGGCGCCTCCCCCT 0.607 NA 17 26 0 0 0 0 CLN6 54982 broad.mit.edu 37 15 68504043 68504043 + Silent SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr15:68504043G>A uc002arf.2 - 4 614 c.456C>T c.(454-456)CCC>CCT p.P152P CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.P184P NM_017882 NP_060352 Q9NWW5 CLN6_HUMAN CLN6 protein 152 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity 0 TCTTGATGATGGGGTTCTCAC 0.582 NA 61 154 0 0 0 0 MYO1C 4641 broad.mit.edu 37 17 1374583 1374583 + Missense_Mutation SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr17:1374583G>A uc002fsp.2 - 20 2289 c.2069C>T c.(2068-2070)CCG>CTG p.P690L MYO1C_uc002fsn.2_Missense_Mutation_p.P671L|MYO1C_uc002fso.2_Missense_Mutation_p.P655L|MYO1C_uc010vqj.1_Missense_Mutation_p.P655L|MYO1C_uc010vqk.1_Missense_Mutation_p.P666L NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 690 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCCATCCTGCGGCCGTCCTGC 0.667 NA 22 37 0 0 0 0 NCR1 9437 broad.mit.edu 37 19 55418074 55418074 + Missense_Mutation SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr19:55418074G>A uc002qib.2 + 3 302 c.264G>A c.(262-264)ATG>ATA p.M88I NCR1_uc002qic.2_Missense_Mutation_p.M88I|NCR1_uc002qie.2_Missense_Mutation_p.M88I|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 88 Ig-like 1.|Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) TCCCGGACATGAACTCCCGCA 0.517 NA 39 74 0 0 0 0 SPTBN1 6711 broad.mit.edu 37 2 54844759 54844759 + Missense_Mutation SNP A A G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:54844759A>G uc002rxu.2 + 6 830 c.581A>G c.(580-582)AAC>AGC p.N194S SPTBN1_uc002rxv.1_Missense_Mutation_p.N194S|SPTBN1_uc002rxx.2_Missense_Mutation_p.N181S NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 194 CH 2.|Actin-binding. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CCCAATGTCAACATTCACAAT 0.438 NA 19 39 0 0 0 0 THSD7B 80731 broad.mit.edu 37 2 137814582 137814582 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:137814582G>T uc002tva.1 + 2 639 c.639G>T c.(637-639)AAG>AAT p.K213N THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.K103N NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TTAGCCTTAAGGTTGGACCAT 0.423 NA 86 190 8.68e-40 9.78e-40 1 0 XIRP2 129446 broad.mit.edu 37 2 168106779 168106779 + Silent SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:168106779G>A uc002udx.2 + 8 8895 c.8877G>A c.(8875-8877)TCG>TCA p.S2959S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S2784S|XIRP2_uc010fpq.2_Silent_p.S2737S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.S305S NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2784 Potential. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGATTTTGTCGAGAGTGAAAC 0.383 NA 74 135 0 0 0 0 WIPF1 7456 broad.mit.edu 37 2 175446127 175446127 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:175446127G>C uc002uiy.2 - 4 424 c.92C>G c.(91-93)GCT>GGT p.A31G uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.A31G|WIPF1_uc010fqt.1_Missense_Mutation_p.A31G|WIPF1_uc002ujc.1_Missense_Mutation_p.A31G|WIPF1_uc002uiz.2_Missense_Mutation_p.A31G|WIPF1_uc002ujb.1_Missense_Mutation_p.A31G|WIPF1_uc010zep.1_Missense_Mutation_p.A31G NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 31 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 ATTTCTCCCAGCCTGCTCTGT 0.418 NA 118 198 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179401254 179401254 + Missense_Mutation SNP T T C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr2:179401254T>C uc010zfg.1 - 306 92740 c.92516A>G c.(92515-92517)GAT>GGT p.D30839G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24534G|TTN_uc010zfi.1_Missense_Mutation_p.D24467G|TTN_uc010zfj.1_Missense_Mutation_p.D24342G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31766 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) AACACAAGAATCTTTTGTGAC 0.403 NA 46 92 0 0 0 0 MC3R 4159 broad.mit.edu 37 20 54824431 54824431 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr20:54824431G>C uc002xxb.2 + 1 644 c.532G>C c.(532-534)GTG>CTG p.V178L NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 215 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) CTGTGGCGTGGTGTTCATCGT 0.557 NA 55 121 0 0 0 0 COL6A2 1292 broad.mit.edu 37 21 47545929 47545929 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr21:47545929C>T uc002zia.1 + 26 2282 c.2200C>T c.(2200-2202)CGC>TGC p.R734C COL6A2_uc002zhy.1_Missense_Mutation_p.R734C|COL6A2_uc002zhz.1_Missense_Mutation_p.R734C|COL6A2_uc002zib.1_Missense_Mutation_p.R140C|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 734 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CACGGACGGGCGCCACGACCC 0.637 NA 47 96 0 0 0 0 VGLL4 9686 broad.mit.edu 37 3 11600120 11600120 + Silent SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:11600120G>A uc003bwf.2 - 6 1149 c.783C>T c.(781-783)AGC>AGT p.S261S VGLL4_uc010hdx.1_Silent_p.S267S|VGLL4_uc003bwg.2_Silent_p.S266S|VGLL4_uc010hdv.1_Silent_p.S177S|VGLL4_uc010hdw.1_Silent_p.S181S|VGLL4_uc011aun.1_Silent_p.S202S NM_014667 NP_055482 Q14135 VGLL4_HUMAN vestigial like 4 isoform b 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) ACTCAGGGCTGCTGGATGCTC 0.657 NA 33 64 0 0 0 0 ALS2CL 259173 broad.mit.edu 37 3 46725326 46725326 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:46725326G>C uc003cqa.1 - 9 1048 c.858C>G c.(856-858)CAC>CAG p.H286Q ALS2CL_uc003cpz.1_5'Flank|ALS2CL_uc003cqb.1_Missense_Mutation_p.H286Q|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 286 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GCGTGAGGAGGTGAAACGTGC 0.617 NA 65 62 0 0 0 0 PDE12 201626 broad.mit.edu 37 3 57543283 57543283 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:57543283C>T uc003diw.3 + 1 1303 c.1177C>T c.(1177-1179)CTT>TTT p.L393F PDE12_uc003div.2_Missense_Mutation_p.L393F NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 393 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TAAGTTCAGCCTTCTTAGCCA 0.532 NA 34 21 0 0 0 0 TRA2B 6434 broad.mit.edu 37 3 185655648 185655648 + Missense_Mutation SNP T T C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr3:185655648T>C uc003fpv.2 - 1 277 c.1A>G c.(1-3)ATG>GTG p.M1V TRA2B_uc003fpu.2_5'Flank|TRA2B_uc010hym.2_5'UTR|TRA2B_uc003fpw.2_Missense_Mutation_p.M1V|TRA2B_uc003fpx.2_RNA NM_004593 NP_004584 P62995 TRA2B_HUMAN splicing factor, arginine/serine-rich 10 1 nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding ovary(2) 2 CTGTCGCTCATGACTCCTGGC 0.632 NA 26 37 0 0 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079789 70079789 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr4:70079789G>T uc003heh.2 - 1 661 c.652C>A c.(652-654)CTT>ATT p.L218I uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 218 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 TCAAAATAAAGCACATAGATC 0.338 NA 31 96 4.66e-17 5.03e-17 1 0 ODZ2 57451 broad.mit.edu 37 5 167645514 167645514 + Missense_Mutation SNP G G C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr5:167645514G>C uc010jjd.2 + 23 4591 c.4591G>C c.(4591-4593)GAT>CAT p.D1531H ODZ2_uc003lzr.3_Missense_Mutation_p.D1301H|ODZ2_uc003lzt.3_Missense_Mutation_p.D904H|ODZ2_uc010jje.2_Missense_Mutation_p.D795H NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CTACGCGACTGATGCCATCTT 0.498 NA 86 212 0 0 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179545821 179545821 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr5:179545821G>T uc003mlq.2 - 8 1250 c.953C>A c.(952-954)GCC>GAC p.A318D RASGEF1C_uc003mlr.2_Missense_Mutation_p.A318D|RASGEF1C_uc003mlp.3_Missense_Mutation_p.A167D NM_175062 NP_778232 Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 318 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCACTTTGGCCCAGGTCTT 0.627 NA 52 87 3.17e-08 3.32e-08 1 0 KCNK16 83795 broad.mit.edu 37 6 39284101 39284101 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr6:39284101C>T uc003ooq.2 - 5 793 c.779G>A c.(778-780)AGA>AAA p.R260K KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Intron|KCNK16_uc010jwy.2_Intron|KCNK16_uc011dtz.1_Missense_Mutation_p.R260K NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 260 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 CTGGCAGCATCTGTGCAGAAG 0.637 NA 10 20 0 0 0 0 RAC1 5879 broad.mit.edu 37 7 6426860 6426860 + Missense_Mutation SNP G G T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr7:6426860G>T uc003spx.2 + 2 294 c.53G>T c.(52-54)TGC>TTC p.C18F RAC1_uc003spw.2_Missense_Mutation_p.C18F NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 18 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) GGTAAAACTTGCCTACTGATC 0.338 NA 38 115 1.16e-17 1.26e-17 1 0 DBNL 28988 broad.mit.edu 37 7 44098509 44098509 + Silent SNP C C T rs148365536 byFrequency TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr7:44098509C>T uc003tjp.3 + 9 860 c.762C>T c.(760-762)GCC>GCT p.A254A DBNL_uc003tjn.2_Silent_p.A126A|DBNL_uc003tjo.3_Silent_p.A255A|DBNL_uc003tjr.3_Silent_p.A127A|DBNL_uc003tjq.3_Silent_p.A263A|DBNL_uc011kbm.1_Silent_p.A230A|DBNL_uc011kbn.1_Silent_p.A151A|DBNL_uc011kbo.1_Silent_p.A155A|DBNL_uc011kbp.1_Silent_p.A206A|DBNL_uc011kbq.1_Silent_p.A179A|DBNL_uc011kbr.1_Silent_p.A203A|DBNL_uc011kbs.1_Silent_p.A159A NM_001014436 NP_001014436 Q9UJU6 DBNL_HUMAN drebrin-like isoform b 254 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding skin(1) 1 AGGAGTCTGCCGTGCACCCGA 0.612 NA 29 49 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94057678 94057678 + Silent SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr7:94057678C>T uc003ung.1 + 50 4071 c.3600C>T c.(3598-3600)GGC>GGT p.G1200G COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1200 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCTCTACTGGCGAAACCTGTA 0.428 NA HNSCC(75;0.22) 65 152 0 0 0 0 ZFAND5 7763 broad.mit.edu 37 9 74975552 74975552 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr9:74975552C>T uc004aiv.2 - 2 421 c.143G>A c.(142-144)AGC>AAC p.S48N ZFAND5_uc010mox.1_5'Flank|ZFAND5_uc010moy.1_Missense_Mutation_p.S48N|ZFAND5_uc004aix.2_Missense_Mutation_p.S48N|ZFAND5_uc004aiw.2_Missense_Mutation_p.S48N|ZFAND5_uc004aiy.2_Missense_Mutation_p.S48N NM_006007 NP_005998 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 48 DNA binding|zinc ion binding 0 ACCCATTGGGCTCATTCTGCC 0.413 NA 117 244 0 0 0 0 SH2D3C 10044 broad.mit.edu 37 9 130504111 130504111 + Missense_Mutation SNP T T C TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr9:130504111T>C uc004bsc.2 - 9 2186 c.2044A>G c.(2044-2046)ATG>GTG p.M682V SH2D3C_uc010mxo.2_Missense_Mutation_p.M522V|SH2D3C_uc004bry.2_Missense_Mutation_p.M524V|SH2D3C_uc004brz.3_Missense_Mutation_p.M328V|SH2D3C_uc011mak.1_Missense_Mutation_p.M328V|SH2D3C_uc004bsa.2_Missense_Mutation_p.M525V|SH2D3C_uc004bsb.2_Missense_Mutation_p.M614V NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 682 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 AAGCTGAACATGTTGCCCATA 0.672 NA 14 36 0 0 0 0 PTGES2 80142 broad.mit.edu 37 9 130886072 130886072 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr9:130886072C>T uc004bti.2 - 4 1073 c.595G>A c.(595-597)GGC>AGC p.G199S PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.G8S|PTGES2_uc004btl.2_Missense_Mutation_p.G8S|PTGES2_uc004btm.2_RNA NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 199 Cytoplasmic (Potential). cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity 0 ACCTCCTTGCCCTGCTCGTTC 0.577 NA 24 70 0 0 0 0 IL3RA 3563 broad.mit.edu 37 X 1471026 1471026 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chrX:1471026C>T uc004cps.2 + 5 681 c.332C>T c.(331-333)ACC>ATC p.T111I IL3RA_uc011mhd.1_Missense_Mutation_p.T33I NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 111 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 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) Sargramostim(DB00020) GAGAATCTGACCTGCTGGATT 0.493 NA 25 37 0 0 0 0 ZNF449 203523 broad.mit.edu 37 X 134494851 134494851 + Silent SNP G G A TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chrX:134494851G>A uc004eys.2 + 5 1572 c.1407G>A c.(1405-1407)GGG>GGA p.G469G ZNF449_uc004eyt.2_Silent_p.G349G|ZNF449_uc004eyu.2_Silent_p.G275G NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 469 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) ATTATTGTGGGAAAAGTTTTA 0.388 NA 91 54 0 0 0 0 USP9Y 8287 broad.mit.edu 37 Y 14885611 14885611 + Missense_Mutation SNP C C G TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chrY:14885611C>G uc004fst.1 + 17 3028 c.2083C>G c.(2083-2085)CGT>GGT p.R695G USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 695 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 TCTTTGTGATCGTGAAGCCTG 0.398 NA 76 36 0 0 0 0 TRAF3 7187 broad.mit.edu 37 14 103352585 103352585 + Frame_Shift_Del DEL C C - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr14:103352585delC uc001ymc.1 + 7 983 c.630delC c.(628-630)GTCfs p.V210fs TRAF3_uc001yme.1_Frame_Shift_Del_p.V210fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.V210fs|TRAF3_uc010txy.1_Intron NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 210 TRAF-type 2. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) AGTGCAGCGTCCAGACTCTCC 0.498 NA 26 10 --- --- --- --- NA NA NA NA MAP2K1 5604 broad.mit.edu 37 15 66729094 66729099 + In_Frame_Del DEL TGGAGA TGGAGA - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr15:66729094_66729099delTGGAGA uc010bhq.2 + 3 777_782 c.302_307delTGGAGA c.(301-309)CTGGAGATC>CTC p.EI102del MAP2K1_uc010ujp.1_In_Frame_Del_p.EI80del NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 102_103 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 CTAATTCATCTGGAGATCAAACCCGC 0.447 NA Cardiofaciocutaneous_syndrome 36 60 --- --- --- --- NA NA NA NA ACOX3 8310 broad.mit.edu 37 4 8376858 8376858 + Frame_Shift_Del DEL C C - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr4:8376858delC uc010idk.2 - 15 1820 c.1675delG c.(1675-1677)GCGfs p.A559fs ACOX3_uc003glc.3_Frame_Shift_Del_p.A559fs|ACOX3_uc003gld.3_Frame_Shift_Del_p.A559fs|ACOX3_uc003gle.1_Frame_Shift_Del_p.A464fs NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 559 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 AAGGCCAGCGCCAACGGACGG 0.697 NA 2 4 --- --- --- --- NA NA NA NA MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr6:29455156_29455157delAC uc011dlq.1 - 1 523_524 c.523_524delGT c.(523-525)GTCfs p.V175fs NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 Cytoplasmic (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 GGGGAAGAGGACACACACACAC 0.495 NA 9 124 --- --- --- --- NA NA NA NA CSMD3 114788 broad.mit.edu 37 8 113332168 113332168 + Frame_Shift_Del DEL T T - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136 79557539-56d8-411f-8151-1bc33fe25c4d g.chr8:113332168delT uc003ynu.2 - 46 7367 c.7208delA c.(7207-7209)AATfs p.N2403fs CSMD3_uc003yns.2_Frame_Shift_Del_p.N1605fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.N2363fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.N2299fs|CSMD3_uc003ynw.1_Frame_Shift_Del_p.N114fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2403 Extracellular (Potential).|Sushi 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AATTTCAGCATTGGGCACAGG 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 53 155 --- --- --- --- NA NA NA NA